What is a parinaud syndrome?

It is the supranuclear vertical gaze disturbances secondary to tectal plate compression. It is also known as parinaud dorsal midbrain syndrome.

It is a term used to denote multiple eye abnormalities, specifically dysfunctional pupil and eye movement. The term parinaud syndrome is named after Henry Parinaud, a French ophthalmologist. He is the father of French ophthalmology. ^{(1, 2)}

Image 1: A young adult with clinical manifestations of parinaud dorsal midbrain syndrome.
Picture Source: images.slideplayer.com

Photo 2: A two year old patient with a clinical manifestation of parinaud syndrome.
Image Source: upload.medbullets.com

Parinaud Syndrome Symptoms

The clinical manifestations of parinaud syndrome include the following:

• Upgaze paralysis – The patient complains of upward gaze palsy. Usually, the downward gaze is preserved. The vertical palsy is supranuclear. The upward gaze mechanism is not functioning.
• Pseudo-Argyll Robertson pupils – The pupil of the patient is mid-dilated and demonstrates a light near dissociation. The pupils respond well to near stimuli but they do not response to light.
• Collier’s sign (Eyelid retraction) – It is the abnormal elevation of the upper eyelids and lowering of the lower eyelids.
• Convergence-Retraction nystagmus – An upward gaze causes this phenomenon. If you suddenly up gaze, the eyes pull in and the globes retract.
• Setting sun sign – It is also known as a sunset eye sign. It is common in children which results from upward gaze paresis. The eyes are driven downward and the sclera is usually positioned in between the iris and upper eyelid. A portion of the lower pupil is covered by the lower lid. It is usually seen in patients with botched ventriculoperitoneal shunts.
• Other clinical manifestations include nerve palsy at third position, skew divergence, see-saw nystagmus (intorsion and elevation of one eye), diplopia (double vision), oscillopsia (illusion of an unstable visual world), and near vision becomes blurry. ^{(2, 3, 4, 5)}

Causes of parinaud syndrome

Parinaud syndrome is usually associated with pineal gland tumor and infarction in the midbrain. Other possible causes of parinaud syndrome include the following:

• Mesencephalic hemorrhage
• A/V malformation
• Obstructive hydrocephalus
• Multiple sclerosis
• Trauma ⁽⁵⁾

Parinaud syndrome is commonly mistaken for conjunctivitis because the clinical manifestations are the same. However, parinaud syndrome usually affects one eye and occurs with a swollen lymph node and fever. The source of infection is usually viral, bacterial, fungi, and parasite.

The common causes are tularemia and cat scratch disease. The bacteria causing disease can directly enter the eye or can be transmitted to the eyes via droplets. ^{(6, 7)}

Diagnosis

The doctor will conduct a thorough physical examination of the affected eye. He/she will watch for any signs of irritation and redness. The presence of swollen lymph nodes near the ears should be checked as well. The cornea will also be checked for the presence of ulcers.

A blood test is ordered to check for any signs of infection. Culture and sensitivity of the eye secretion can also help come up with the most accurate diagnosis. Various neuroimaging studies should be done to correctly and accurately diagnose the condition of the patient.

The doctor will usually order for a CT scan and MRI scan. There are also instances when an angiography is needed to as to detect arteriovenous malformation. ^{(7, 8, 9)}

Who are at risk?

People who are at risk for parinaud syndrome include the following:

• Women with multiple sclerosis, especially in their 20s to 30s.
• Geriatric patients, especially those with stroke of the upper brainstem.
• Young patients suffering from brain tumor in the midbrain and pineal gland. ⁽⁹⁾

Parinaud Syndrome Treatment

The focus of care and treatment approach depends on the clinical manifestations and underlying cause. Hence, it is important to come up with a detailed diagnosis including a CT scan and MRI scan. It is important to diagnose the disease at an early stage so that treatment will be initiated the soonest time possible.

A positive prognosis for recovery is more likely to happen if the disease is diagnose and treated at an early stage. If there is an ongoing infection, the doctor will prescribe antibiotics. If the ocular tissues are infected, then it should be removed surgically.

For eye-related symptoms such as upgaze palsy, retraction nystagmus, and convergence movement, they can be improved using bilateral inferior rectus recessions. The overall condition of the eye usually improve after a few months. The improvement is slow but steady, especially when proper treatment and care is observed. ^{(3, 4, 10)}

Conclusion

A parinaud syndrome is an umbrella term for multiple eye abnormalities. The term is named in honor of Henry Parinaud, a well-known French ophthalmologist and neurologist. He was known in these fields in the second half of the 19th century.

He was the one who gave the disease a clear view and understanding. Parinaud syndrome is characterized by the patient’s inability to perform eye movements, especially controlling gaze in the vertical direction. This manifestation is associated with dorsal midbrain damage primarily because the movements of the eyes are controlled by the superior colliculus of the tectum, which is found in the dorsal portion of the midbrain. That is why parinaud syndrome is also called dorsal midbrain syndrome. ^{(2, 7, 8)}

Parinaud syndrome can compromise other surrounding structures particularly the pretectal area, rostral interstitial nucleus of the medial longitudinal fasciculus, and posterior commissure. Of all the possible causes of parinaud syndrome, the two most common are tumor of the pineal gland and tumor of the midbrain structures.

Hence, it is of great importance to detect the disease the earliest time possible so that the patient will be able to receive proper care and treatment. It is difficult to treat the disease once it is already in its advanced stage. If you feel like something is not right in your body, you should actively take measures to treat the disease.

The best thing to do is to consult your doctor so that proper assessment, accurate diagnosis, and the best treatment will be received by the patient. ^{(1, 4, 5)}

References:

1. https://en.wikipedia.org
2. https://radiopaedia.org
3. www.eneurosurgery.com
4. webeye.ophth.uiowa.edu
5. https://syndromespedia.com
6. https://healthmaza.com
7. https://www.ncbi.nlm.nih.gov
8. www.sciencedirect.com
9. www.gpnotebook.co.uk
10. www.medigoo.com

What is Fatty liver?

Fatty liver is a condition where fat in the liver exceeds beyond 5-10% of the weight of the liver ^[1]. Fat in the liver accumulates in the form of large vacuoles of triglycerides through steatosis (i.e. abnormal lipid retention within a cell) ^[2].

Otherwise known as fatty liver disease (FLD), it is classified as either alcoholic or non-alcoholic liver disease, depending on its cause. FLD is often times benign, however, accumulation of simple fat in the liver leads to greater risks that may cause further damage such as inflammation (steatohepatitis) and scarring of the liver ^[4].

Fatty liver disease can often be reversed through a change in lifestyle ^[3].

picture:normal vs fatty liver

Source: Mayo Foundation

How does the liver become fat?

One of the functions of the liver is to filter fats. The liver is clogged when too much fat accumulates on the spaces surrounding liver cells (hepatocytes). This then causes the liver to enlarge and become heavier, thus it is termed a fatty liver.

This condition reduces the liver’s function which is to filter toxins and other harmful substances from the blood, which further aggravates the work of the liver to metabolize fats ^[5].

Signs and Symptoms

Fatty liver disease often doesn’t show any outward symptoms, and sometimes only known when patients undergo medical tests ^[3]. When the disease advances, which may take years or even decades in the making ^[1], that’s where various symptoms begin to show. Symptoms such as:

• Fatigue
• Weight loss
• Abdominal discomfort
• Vomiting blood
• Pain in the centre or upper right of abdomen (due to enlargement of liver pressing to other organs)
• Weakness
• Nausea
• Confusion or difficulty concentrating

When the disease is caused by alcoholic means, symptoms worsen when heavy drinking is continued. When it is non-alcoholic, the disease may easily be reversed, but may also become worse, depending on its cause (i.e. genetic). Cirrhosis may develop either way ^[1], wherein the liver begins to lose its function when liver cells are replaced by scar tissue due to enlargement for which you may have the following symptoms:

• Jaundice or yellow discoloration of the skin, eyes, and the mucus membranes
• Bruising and bleeding caused by decrease of coagulation factors produced by the liver
• Liver failure
• Fluid retention

What causes fatty liver?

Fatty liver has multiple causes but the leading cause worldwide is excessive alcohol intake and obesity. It is also associated with metabolic syndrome (diabetes, hypertension, high levels of triglycerides, insulin resistance).

The people who have higher risk of this disease are those who are middle-aged and overweight, obese, suffer from diabetes and hypertension. However, some people may not have these factors but still develop fatty liver disease.

There are some nutritional causes of fatty liver, such as:

• Starvation and malnutrition,
• Rapid weight loss,
• Long term use of parenteral nutrition (direct infusion of nutrients in the blood stream); and
• Intestinal bypass surgery for obesity ^[4].

If the cause is considered in light of alcohol, the disease may be alcoholic or non-alcoholic.

Alcoholic Fatty Liver disease

People who drink excessive alcohol have 90-100% chance of having a fatty liver [1]. Heredity may also be a factor of this disease because sometimes, alcoholism is passed down to offspring and also, genes that may affect the metabolism or breakdown of alcohol. The development of alcoholic liver disease is commonly influenced by hepatitis C, obesity, diet, and overload of iron.

Non-Alcoholic Fatty Liver Disease

Fatty liver disease that develop in people who drink no alcohol or minimal alcohol have higher risk of developing non-alcoholic steohepatitis (NASH), wherein the fatty liver has inflammation. A simple fatty liver is usually benign, but when NASH develops, serious conditions may occur for it may lead to permanent liver damage. 20% of adults with NASH develop cirrhosis (liver scarring) and 11% may experience liver-related deaths ^[4].

NASH is usually caused by different medications that affect the liver, viral hepatitis, inherited liver disease, rapid weight loss and malnutrition ^[1]. Recent studies suggest that over accumulation of bacteria in the small intestine may cause non-alcoholic fatty liver disease ^[1].

Non alcoholic fatty liver disease may progress in the following stages:

• Simple steatosis (fatty liver),
• NASH (steatosis with inflammation),
• Liver cirrhosis (steatosis with liver hardening and liver scarring),
• Complete liver failure or in some cases, liver cancer and then
• Death unless liver transplantation is performed.^[5]

picture:progression from fatty liver to cirrhosis

Source: news-medical.net

Fatty liver in Children

Fatty liver disease in children occurs more now than before due largely to childhood obesity. It affects 22-53% of obese children ^[2]. Children as young as four years of age may have fatty liver disease ^[2].

How is fatty liver diagnosed?

Since fatty liver is often a silent disease, certain tests such as blood tests, imaging tests and liver biopsy are needed to ascertain diagnosis after a routine check up that includes health history and physical examination.

• Blood tests may show elevations of certain liver enzymes such as alanine aminotranferase (ALT) or aspartate aminotransferase (AST)
• Abdominal ultrasound may show an obvious fatty liver.
• Liver biopsy is usually done to examine the condition of liver cells, if inflammation has occurred and if fat content is beyond normal ^[1].  The doctor will insert a needle in the liver and obtain a sample tissue which will be examined under the microscope.

Treatment for fatty liver disease

Currently, there is no exact medication to treat fatty liver disease. It is usually treated through treating its underlying causes such as obesity and diabetes ^[2]. Certain clinical tests are underway to find medication that decrease fat in the liver. What we can do now is to improve the condition by sticking to a treatment regimen.

• Losing weight can help loosen the fat in the liver. Losing weight must be gradual, so you must stir away from extreme gastric bypass surgeries and starvation diets. Losing not more than 1 to 2 pounds a week is recommended ^[5].
• Keep a balanced diet and be active. Exercise at least 30 minutes a day and avoid consuming rapidly digested carbohydrates such as rice, bread, potatoes, sports drink and juice which have concentrated sugar ^[1].
• Avoid triglycerides or fatty diets. Limit fat consumption to less than 30% of daily caloric intake ^[5]
• Avoid unnecessary medications that may worsen your disease ^[1]
• See your doctor regularly for regular check-ups. Gastroenterologist is preferred ^[3].
• Avoid alcohol even if what you have is non-alcoholic fatty liver disease.
• Help your liver by treating underlying disease like type II diabetes and hypertension.
• Fatty liver disease caused by bacteria can be treated by taking probiotics, dietary supplements containing good and live bacteria ^[1].
• Antioxidants and certain vitamins (silymarin, vitamin C, vitamin E, pioglitazone, melformin) may help ^{[1, 5]}.
• If you are already overweight, don’t wait around and prevent developing the disease because you have a higher risk of developing a fatty liver. Be proactive, exercise and have a balanced diet, before everything may be too late.

References:

1. www.webmd.com
2. www.news-medical.net
3. www.betterhealth.vic.gov.au
4. www.liver.ca/liver-disease
5. bestfattyliverdiet.com

Hepatic Flexure Syndrome

What is the hepatic flexure in the colon? What is its health implication? Hepatic flexure is also known as right colic flexure. It is found in the digestive system and bends the colon that connects both the ascending and transverse colon. It is called hepatic flexure because of its proximity to the liver.

Hepatic flexure syndrome is a common medical issue, which causes a variety of symptoms. The common hepatic flexure syndrome symptoms are abdominal discomfort and gas pains. The pain is felt in the upper right portion of the abdomen. Because of the location of pain, hepatic flexure syndrome is oftentimes confused with other types of abdominal disorders.

Hence, it is important to thoroughly assess the condition of the patient so that proper medical intervention will be given. ^{(1, 2)} Hepatic flexure is a condition in which the ascending colon moves upwards and turns to take waste across the transverse colon.

The ascending colon moves across the abdomen from the right going to the left. The lowest point of the liver touches the colon, the very same point of the hepatic flexure.

There are two flexures in the body that are associated with the colon. These are the hepatic flexure or right colic flexure and splenic flexure or left colic flexure. ^{(3, 4)}

Photo 1: The anatomical presentation of the colon.
Picture Source: images.slideplayer.com

Image 2: A colonoscopy procedure to check the hepatic flexure and splenic flexure of the colon.
Photo Source: howshealth.com

What is the splenic flexure?

The splenic flexure syndrome is characterized by periodic gas pains. The pain can be extreme to the point that it is unbearable and may lead to ruptured appendix. Just like hepatic flexure syndrome, splenic flexure can be mistaken for other abdominal disorders.

Fortunately, it is not a life threatening condition but the symptoms are annoying that it disturbs your day to day activities. Symptoms include pain that is concentrated near the upper left side of the abdomen. The pain also takes place if you bend or twist your abdomen.

The upper left part of the abdomen is distended and tender to touch. If you tap the abdomen, you will notice a hollow-like sound. The patient also experiences bowel irregularities. Some people have severe bout of diarrhea while others are constipated. ^{(4, 5, 6)}

Why is it important to detect the presence of hepatic flexure syndrome?

It is important to detect hepatic flexure syndrome at an early stage because serious illnesses can root from it. Possible medical conditions that can result from hepatic flexure syndrome include hepatocellular disease, hepatitis, hepatolenticular degeneration, hepatojugular reflux, hepatoma, hepatomegaly, and the likes. ⁽⁷⁾

Diagnosis

If the doctor is suspecting hepatic flexure syndrome, he/she will usually order a liver function test. The expected result should be normal but still patient complains of painful episodes. The doctor will also order for a colonoscopy to have an accurate view of the inside structure of the large intestines.

On the camera image, the hepatic flexure looks like a bluish structure that is triangular in shape. ^{(7, 8)}

Hepatic flexure syndrome Treatment

Mild cases of hepatic flexure syndrome can be treated at home using natural remedies. The primary goal is to relieve gas pain so as to provide comfort to the patient. How to prevent gas pain? If you feel the pain, you need to lie down, relax, and gently massage the affected area. Once the gas has passed, the patient will be relieved from pain. Drinking warm water and tea can also improve the overall condition of the patient. ⁽⁸⁾

There is a recommended hepatic flexure syndrome diet. Dietary changes can significantly improve the condition of the patient and prevents gas pain attacks. There are certain foods that should be avoided or be eaten in small amount such as milk, beans, and carbonated beverages.

Ideally, patients are advised to avoid gas forming foods, limit the intake of foods containing high fat including foods rich in fructose and lactose. ^{(9, 10)}

Antacids work best in pain management. They can also relieve abdominal bloating. If the condition of the patient is recurrent and does not resolve using the interventions mentioned above, then the doctor will opt for surgical intervention. However, surgery should only be the last resort. It should be ordered when all other measures failed to improve the overall condition of the patient.

How to prevent hepatic flexure?

• Live an active lifestyle and avoid unnecessary stress – Gas pain can be prevented if you keep on doing things that are good not just for your body but for your brain too. As much as possible, you should limit your exposure to stress. Keep a healthy relationship with the people around you and most importantly, keep your body healthy. As the famous saying goes, “you are what you eat.” ⁽¹⁰⁾
• Maintain a proper healthy diet – You should limit your intake of foods high in soluble fiber such as broccoli, cabbage, oats, peas, and beans. Artificial sweeteners should be avoided too. Examples are sorbitol, xylitol, maltitol, and mannitol. Foods high in lactose should be taken in moderate amount such as milk, ice cream, and yogurt. Those foods known to trigger gas pain should be removed from your diet such as caffeinated beverage, alcohol, and fried foods. If you are constipated, you should increase your intake of insoluble fiber such as green leafy vegetables and whole grain bread. It is also important to keep the body well hydrated. Water and natural fruit juices are enough to hydrate your body. ^{(2, 5, 7)}
• Increase your intake of probiotics – if the condition is severe, the doctor will prescribe antibiotics. While or after the antibiotic treatment, you should increase your intake of probiotics. They are good bacteria and they play a very important role in preventing constipation and bloating. Foods rich in probiotics are yogurt and dairy products. ⁽¹⁰⁾

Hepatic flexure should be diagnosed the earliest time possible. Not treating the condition right away could lead to severe health condition, which could be extremely difficult to treat. If you are suspecting alarming symptoms, you should consult your doctor right away.

References:

1. https://en.wikipedia.org
2. www.nursingtimes.net
3. www.belmarrahealth.com
4. www.ehealthstar.com
5. www.wisegeek.org
6. www.healthresource4u.com
7. www.helpforibs.com
8. www.ibsgroup.org
9. www.healthhype.com
10. emedicine.medscape.com

What is lichen striatus? It is a sudden acquired and asymptomatic linear inflammatory skin disease.

The skin eruption is unilateral and usually found on the extremities. It follows Blaschko lines. It is a rare condition and predominantly affects the children population. ^{(1, 2)}

Who are at risk?

It commonly affects children between 5 years old and 15 years old. The prevalence is higher in women than men. ⁽²⁾

Lichen Striatus Pictures

Image 1: A close up view of lichen striatus on the arm of a child.
Picture Source: img.webmd.com

Photo 2: A lichen striatus on the lower extremities of a paediatric patient (child) .
Image Source: ozarkderm.com

Symptoms / clinical manifestations

It starts as a small spot, typically pink, flesh to reddish in color. As time passes by, the spot becomes dull red and forms a scaly linear band, which is typically 2mm to 2cm in width.

It commonly affects both the lower and upper extremities, but can also affect the neck and the entire torso. In some instances, the lesion can extend to the abdomen and buttocks area. The lesion itself is asymptomatic, although some patients complain of itching.

The nails can be affected too, but very rare. The patient’s nail become thick, split, and ridged. ^{(3, 4)}

Lichen Striatus Causes

The exact cause of lichen striatus is unknown up to this time. However, there are certain conditions that predispose lichen striatus. They are the following:

• Atopy – those with family history of atopic dermatitis, allergic rhinitis, and asthma are at risk for lichen striatus.
• Autoimmune – An autoimmune response can trigger lichen striatus. A case was reported during pregnancy, Vitiligo, and inflammatory skin disease.
• Environmental factors – a cause of lichen striatus is reported in children living in a shared environment. It could be associated with viral infection too.
• Other possible causes – a case of lichen striatus was reported following a BCG and hepatitis B vaccination. Another case reported after exposure to ultraviolet rays. ^{(4, 5, 6)}

How to diagnose lichen striatus?

To accurately diagnose lichen striatus, the clinical manifestations should be thoroughly checked. A thorough physical examination should be done. When deemed necessary, a histopathology of a skin biopsy is required. ⁽⁶⁾

Pathophysiology/ lichen striatus pathology

The exact cause of lichen striatus is still unknown up to this time. However, the blaschkoid distribution is indicative of post-zygotic mutation leading to a unique clone of genetically altered cells. These cells are sensitive to environmental stimuli. ⁽⁷⁾

Lichen Striatus Treatment

There is no definite treatment for lichen striatus since the exact cause is still unknown up to this time. The treatment and management is focused on the symptomatic relief. Lichen striatus usually resolves within six months, although the lesions do not completely disappear. There are instances wherein the lesions will leave a temporary pale or dark marks. ^{(7, 8)}

Below are the lichen striatus treatment tips

Emollients

A lichen striatus can lead to dryness and itching of the skin. If you experienced itching, it can be alleviated using emollients. Topical steroids can somehow alleviate the itching but it cannot shorten the recovery time. Topical calcineurin inhibitor can alleviate pruritus or itching. Pruritus can also be alleviated using antihistamines. ⁽⁹⁾

Combination of topical steroid and retinoid

A retinoid plays a very important role in the treatment of various skin conditions. It modulate keratinocyte proliferation and differentiation. If combined with a topical steroid, the entire duration of lichen striatus can be shorten significantly. The combination of topical steroid and retinoid can help improve post inflammatory dyspigmentation, which is common in people with dark skin. ⁽¹⁰⁾

Lichen striatus Natural treatment

• Increase your intake of essential vitamins – Vitamins A, C, and E can speed up the healing process.
• Eat nutritious foods – You should include nutritious foods in your diet such as fruits and vegetables specifically apples, limes, oranges, lemons, carrots, and the likes.
• Keep your skin moisturized – Use natural oil/essential oil in moisturizing the skin. Examples are jojoba oil, olive oil, and shea butter. By keeping the skin moisturized, you will be able to prevent the skin from drying out. ^{(8, 9)}
• Hydration – keep your body well hydrated by drinking plenty of fluids, especially water and natural fruit juices.
• Aloe Vera – It helps alleviate itching, soothes the skin, and promotes healing. Mix fresh aloe veral gel with a carrier oil like lavender or jojoba. Apply the mixture directly on the skin. Jojoba oil acts as a natural moisturizer. It effectively alleviates itching and dryness.
• Flax seeds – It is effective in treating various types of skin ailments. It contains healthy fat, which promotes skin healing and rejuvenation.
• Beeswax – It is rich in vitamin A, which is good for the skin. It facilitates skin cell repair and regeneration. ^{(2, 4)}
• Eucalyptus oil – It alleviates itching and reduces skin irritation.
• Peppermint oil – It has been used a long time ago to alleviate soreness and itching of the skin. ⁽¹⁾

Maintenance therapy and long-term follow up might not be necessary at all because of the self-limited nature of the disease. Patients with lichen striatus as an excellent prognosis. The patient may experience relapse, although highly unlikely.

If the nails are affected, it would take months to years for the nails to go back to its pre-disease state. On the positive note, the nail heals spontaneously without any deformity. ⁽⁷⁾

A lichen striatus can be quite alarming, especially if you notice the lesions for the first time. However, this disease does not possess any health risk at all and usually resolves on its own. Although, it might take months or even year for the lesion to completely go away.

The focus of care is on the symptomatic relief, especially if the patient complains of itching. Do not attempt to treat the lesion on your own, especially if you are not sure if it really is a lichen striatus. Have the lesion checked by your skin doctor.

That way, you will be able to know if it really is a lichen striatus and whether or not an aggressive treatment approach is needed. ^{(3, 6, 8)}

References:

1. www.dermnetnz.org
2. www.actasdermo.org
3. www.streetdirectory.com
4. www.skinsite.com
5. www.clinicaladvisor.com
6. www.tandurust.com
7. www.simple-remedies.com
8. www.aidanceproducts.com
9. https://iythealth.com
10. www.consultation.ayurvediccure.com

Definition

What is hematochezia? It is the passage of blood through the anus. It is commonly linked with lower gastrointestinal bleeding.

The exact cause of hematochezia has something to do with the lower gastrointestinal tract. In rare instances, too much bleeding from the upper part of the gastrointestinal tract can also lead to hematochezia. The difference with upper and lower GI tract bleeding is that the upper GI bleeding could result to black tarry stool or medically called melena. ^{(1, 2)}

note : K92.1 is the ICD 10 Code for Hematochezia

Hematochezia Vs Melena

Hematochezia pertains to a bloody stool wherein the blood appears fresh and the color ranges from red to maroon. On the other hand, melena pertains to black, tarry stool indicating that the blood has degraded. ⁽²⁾

Photo 1: An image detailing the stool described as hematochezia.
Picture Source: image.slidesharecdn.com

Image 2: A closer look at the lower gastrointestinal tract.
Photo Source: digestive.templehealth.org

Hematochezia Symptoms

• Lower abdominal cramps
• The lower abdomen is swollen, which is visible from the outside
• Constipation/diarrhea
• Fever
• Body malaise
• Dizziness ⁽³⁾

Causes

There are various culprits for hematochezia. Some of the common causes of hematochezia in adults include the following:

• Haemorrhoids
• Diverticulosis ⁽⁵⁾
• Colorectal cancer
• Ulcerative colitis
• Inflammatory bowel disease
• Crohn’s disease
• Peptic ulcer
• Gastric cancer
• Esophageal varices ⁽⁴⁾
• Salmonellosis
• Food poisoning
• Eating red colored foods like beet and dragon fruit

Hematochezia in children/newborn/infants

Common causes of hematochezia in children are the following:

• The infant swallow material blood at the time of delivery
• Hematochezia in children can be a sign of necrotizing enterocolitis (common in premature infants)
• Intussusception (hematochezia with abdominal pain) ^{(5, 6)}

How to diagnose hematochezia?

There are various diagnostic procedures and laboratory works used to correctly diagnose hematochezia. They are the following:

1. CT scan
2. Colonoscopy
3. Wireless Capsule Endoscopy (WCE)
4. Double-balloon Enteroscopy
5. Esophagogastroduodenoscopy (EGD)
6. Push Enteroscopy
7. Radionuclide Scans
8. Angiography
9. Complete Blood Count
10. Coagulation profile test (bleeding time test, prothrombin time (PT) test, aPPT or
11. activated partial thromboplastin time, and manual platelet count test)
    Serum electrolytes level test ^{(6, 7, 8)}

Hematochezia Treatment

The treatment for hematochezia primarily depends on the factors that cause it. As for the health care professionals, problems in the gastrointestinal tract such as in hematochezia is handled by a gastroenterologist. Most of the time, the gastroenterologist needs to work hand in hand with a proctologist or a rectal surgeon, especially if the patient needs to undergo a surgical procedure. ⁽⁸⁾

The main goal is for the symptomatic relief. The clinical manifestations should be addressed right away. Diagnostic procedures and laboratory work should be done to accurately determine the root cause of the problem. Treatment and management for hematochezia include the following:

• IV fluids and Blood transfusion – Patients who have been suffering from hematochezia for several days are prone to anemia and low blood volume. Hence, the patient is hospitalized and given intravenous fluid and blood transfusion when deemed necessary. This is to bring the blood pressure to a normal range and prevent dizziness and shock. ⁽⁹⁾
• Colonoscopy – It is done to prevent bleeding, especially if the hematochezia is caused by polyps. However, colonoscopy alone is not that reliable in detecting the bleeding site. It can’t also stop recurrent bleeding. To accurately diagnose the condition of the patient, a visceral angiogram should be performed. The source of bleeding is stopped using angiographic catheter along with certain types of medications. ⁽¹⁰⁾
• Less invasive methods – mild cases of hematochezia can be treated using a less invasive or even non-invasive approach such as using hemorrhoidal creams, stool softener, or sitz baths. The less invasive treatment methods are recommended for patients with haemorrhoids. Patients are strongly advised to increase their fluid intake and consume foods rich in fiber so as to avoid constipation. Patients should refrain from sitting too long in the comfort room because doing so can add pressure to the bleeding site. ^{(2, 10)}
• Drug therapy – If the cause of hematochezia is diverticulitis, the patient is put on a number of medications, especially drugs that can alleviate abdominal spasms. Examples are diclomine and hyoscyamine. The patient should be put on antibiotic therapy too. Examples are ciprofloxacin, cephalexin, and metronidazole. If the condition of the patient does not improve despite aggressive drug therapy, the next approach is to conduct surgery. The bleeding diverticula should be removed to stop and prevent further bleeding. ^{(2, 3, 4)}
• Other treatment modalities – Hematochezia is possible in patients diagnosed with colorectal cancer. The treatment modalities primarily depends on the severity of cancer. A colorectal cancer in its early stage is easier to treat than a cancer in its advanced stage. A combination of various procedures is done to somehow improve the condition of the patients. This includes chemotherapy and surgery. Palliative care is also given to the patient. Lifestyle and diet modification should be given emphasis too. Patients should refrain from eating high caloric foods and meaty products. Vices should be stopped too, especially smoking and excessive alcohol drinking. ⁽⁵⁾

Prevalence, prognosis, and prevention

Hematochezia can affect any age group including small children and geriatric population. Geriatric patients with hematochezia should be given the much needed care and attention because they are prone to hypotension, loss of consciousness, and confusion.

The prognosis is quite good as long as the root cause is determined at an early stage. If the condition is in its advanced stage and the patient belongs to the geriatric population, the prognosis is poor.

To prevent hematochezia, you should follow these tips:

• Increase your intake of vitamin A and D.
• Eat foods rich in fiber.
• Keep your body hydrated by drinking plenty of fluids.
• Take iron supplements to prevent anemia.
• Avoid long sitting.

Hematochezia or blood in the stool shouldn’t be taken for granted. Any internal bleeding can be fatal. You should contact your health care provider the minute you notice a blood through your anus. By doing so, the root cause of the problem will be determined and proper treatment and management can be given to the patient. ^{(4, 5, 7)}

References:

1. https://en.wikipedia.org
2. www.ncbi.nlm.nih.gov
3. www.webmd.com
4. www.medicinenet.com
5. www.healthhype.com
6. www.verywell.com
7. www.epainassist.com
8. emedicine.medscape.com
9. www.consumerhealthdigest.com
10. Portable Signs and Symptoms By Lippincott Williams & Wilkins

Bilirubin is a yellowish to brownish pigment found in the bile and produced by the liver. It is a by-product of the breakdown of red blood cells.

A normal healthy body can pass out the body during the digestive process. Bilirubin is not a bad thing. It only becomes alarming when it is accumulated in the bloodstream. If the bilirubin gets out of control, it could lead to jaundice (yellowish discoloration of the skin), which could be an indicator of a liver disease. ^{(1, 10)}

The level of bilirubin is affected by the age and general health condition of the patient. The bilirubin level is checked during urinalysis. The presence of bilirubin in urine is medically known as bilirubinuria. The presence of bilirubin in urine is usually associated with liver and gallbladder disease. A bilirubin in urine normal range does not possess any health risk but once grows out of control can be extremely fatal.

There are two types of bilirubin in blood: unconjugated and conjugated bilirubin. Unconjugated bilirubin binds with other proteins while conjugated bilirubin is free and can pass in various parts of the body including the liver. It passes to the small intestines and will then reach the large intestines giving the stool its distinct color.

A small quantity of bilirubin reaches the kidney and will be eventually excreted through urination. It is the reason why the urine has a straw color. ^{(1, 2)}

Photo 1: A comparison image of a normal urine and a urine with a high level of bilirubin.
Picture Source: healthsaline.com

Picture 2: An image of bilirubin crystals.
Photo Source: healthsaline.com

Image 3: A comparison image of a bilirubin test using two different samples: blood and urine.
Picture Source: laboratorytests.net

Bilirubin in urine symptoms

• Dark yellow colored urine
• Yellowish discoloration of the skin including the eyes and nail beds
• Fatigue
• Nausea with or without vomiting ^{(3, 4)}

A moderate bilirubin in urine is also known as hyperbilirubinemia. What causes bilirubin in urine? A bilirubin is usually conjugated in the liver and will then become water soluble. The bilirubin found in the urine is the unconjugated type. It is not soluble in the water, which means that the kidney cannot filter it. Bilirubin in the urine is indicative of the presence of conjugated hyperbilirubinemia. ⁽⁵⁾

Elevated level of bilirubin in infants

Too much bilirubin in infants could lead to jaundice. Before the infant is born, there are various forms of haemoglobin in the body. The moment an infant is born, the old haemoglobin breaks rapidly, which leads to a high level of bilirubin. The body should be able to get rid of bilirubin through excretion.

The problem with infants is that they have underdeveloped liver, which means that it cannot thoroughly filter out the bilirubin. This causes the level of bilirubin in the blood to rise. Infants at risk for high bilirubin in the blood include premature infant, breast-fed infants, bruising during birth, and those with ABO incompatibility. ^{(6, 8, 9)}

Bilirubin in urine during pregnancy

If the bilirubin level is high during pregnancy, it is an indicator that the red blood cells are not working properly. Pregnant women with high level of bilirubin should be constantly checked for any alarming health conditions such as hepatitis, gallbladder disease, and other forms of infections.

Bilirubin Urine Test

The presence of bilirubin can be checked through a urine test. A bilirubin urine test strips are readily available over the counter and can be purchased even without the doctor’s prescription. The urine strip allows you to conduct bilirubin test right in the comfort of your home.

What causes bilirubin in urine?

1. Hepatitis – It is the inflammation of the liver causing the number of bilirubin to rise. Inflammation of the liver is a result of bacterial, parasitic, or viral attack. An inflamed liver left untreated could lead to liver cirrhosis. Inflammation of the liver can also be caused by autoimmune disorders such as type 1 diabetes mellitus, hyperactive thyroid, rheumatoid arthritis, and Grave’s disease. ⁽⁹⁾
2. Ulcerative colitis – This condition causes an increase in the level of bilirubin.
3. Obstruction of the gallbladder – There are various reasons why the gallbladder is obstructed, but the primary reason is the presence of stone. This leads to the accumulation of bilirubin wherein some of them can be detected in the urine.
4. Bile duct narrowing – It is caused by inflammatory disease or a result of surgical processes. It reduces the flow of bile from the gallbladder to the intestines. It will then cause a sudden increase of bilirubin.
5. Other conditions and circumstances leading to the increase of bilirubin include inherited disease like Rotor’s syndrome, too much intake of alcohol, hepatic toxic drugs (drugs toxic to the liver), sickle cell anemia and septicaemia (blood poisoning). ^{(2, 5, 7)}

How to treat an increased level of bilirubin in urine?

There are various reasons why the level of bilirubin in the urine increases. Hence, the treatment and management for high bilirubin level primarily depends on the factors that cause it. If it is bacterial in origin, the doctor will prescribe antibiotics. An antiviral medication is used to treat high level of bilirubin of viral origin. If the patient has liver cirrhosis (an advanced liver disease), the best remedy is liver transplant. ⁽⁴⁾

If the cause of high bilirubin level is gallstone, the goal of the treatment is to dissolve the stone. If the stone is small, it can be dissolved using certain types of drugs. However, if the stone is quite big, the best approach is lithotripsy. It is a process in which the stone is destroyed via a series of ultrasound treatment. No incision is made.

Lifestyle change is highly recommended in patients with increased level of bilirubin. You should avoid drugs toxic to the liver. Consumption of alcohol should be restricted too. ^{(5, 10)}

Natural remedies for high bilirubin

• Reishi Mushroom – It is tested and proven effective in treating hepatitis. It prevents severe forms of liver disease. What this mushroom does is it stabilizes your immune system and improves the functions of the liber.
• Lemon – It is effective in stopping the liver from producing cholesterol. Lemon juice contains pectin, which is effective in alleviating gallbladder pain. Lemon has anti-inflammatory property, which aids in the treatment of jaundice. It has the ability to unblock bile ducts making it highly effective in controlling the level of bilirubin. ^{(2, 4)}
• Tomato juice – Tomatoes contain lycopene, which reduces injury to the liver. ⁽⁶⁾

References:

1. https://medlineplus.gov
2. www.healthline.com
3. https://labtestsonline.org
4. www.mayoclinic.org
5. www.medicalnewstoday.com
6. www.nytimes.com
7. www.webmd.com
8. www.medicalhealthtests.com
9. www.quora.com
10. https://en.wikipedia.org

What is and What does low creatinine mean?

It is a chemical waste product in the blood (by-product of normal muscle function), passes through the kidneys, and eliminated from the body in the form of urine. The more muscles you have, the higher the creatinine in the body.

The level of creatinine in the body indicates the amount of muscles a person has as well as the kidney functions. What is a normal level of creatinine in urine? Men with a normal kidney function have a creatinine of 0.6 to 1.2 milligrams/deciliters of creatinine.

Women with normal kidney function have 0.5 to 1.1 mg/deciliter of creatinine. The size of the body, level of activity, and medications can significantly affect the level of creatinine in the blood. ^{(1, 2)}

Image 1: Exercises that help increase muscle mass and improve the level of creatinine.
Picture Source: netdoctor.cdnds.net

Photo 2: A geriatric patient who has the high tendency to suffer from low creatinine due to aging and decreased muscle mass.
Image Source: img.aws.livestrongcdn.com

The significance of checking the level of creatinine

The kidney plays a very important role in maintaining blood creatinine in normal range. Checking the level of creatinine helps detect the functions of the kidney. The exact function of the kidney can be best measured using creatinine clearance test.

It is measured in two ways: serum creatinine level and patient’s weight and age. A 24-hour urine sample is also one of the reliable methods in checking creatinine level. ⁽³⁾

A serum creatinine test measures the level of creatinine in the blood. It is an indicator whether the kidney is functioning properly or not. If you have an underlying disease condition, the more you need to measure your creatinine.

Ideally, the creatinine level should be measured at least once or twice a year. The doctor will also prescribe medications that will help treat the underlying cause of low creatinine. ⁽⁴⁾

Causes of low creatinine levels

• Muscle mass – Creatinine reflects the amount of muscles in the body. Low creatinine in the blood is linked with low muscle mass.
• Diet – Nutrition can significantly affect the level of creatinine in the body. Severe malnutrition could lead to muscle loss, which in turn affects the level of creatinine. Those people who follow a strict vegetarian diet has low creatinine. ^{(4, 5)}
• Pregnancy – pregnant women have low level of creatinine primarily because the kidneys are efficient in clearing creatinine and other waste products from the blood during pregnancy.
• Advanced liver disease – Another possible cause of low creatinine is advanced liver disease. The liver manufactures and breaks down protein in the body. If the liver can’t function the normal way, the production and breakdown of protein will be affected significantly.
• Kidney problems – Disease of the kidneys can affect the level of creatinine in the blood.
• Age – The person’s age can affect the level of creatinine. Those who belong in the geriatric population has a low creatinine level primarily because as the person ages the muscle mass is reduced. It is also associated with a low basal metabolism. As you grow older, the body’s metabolism slows down. ⁽⁶⁾
• Protein deficiency – the production of creatinine takes place with the breakdown and metabolism of protein. If your body has a low creatinine level, it is an indicator that your diet lacks protein. ⁽⁷⁾

Symptoms of low creatinine

What are the indicators that your body lacks creatinine? What is the effect of low creatinine in the body? The clinical manifestations for low creatinine primarily depends on the underlying condition. The common signs and symptoms include the following:

• Muscular dystrophy
• Muscle weakness
• Muscle pain and stiffness
• Decreased mobility
• Jaundice (yellowish discoloration of the skin)
• Abdominal pain
• Bloody stool ^{(7, 8)}

Diagnosing low creatinine level

The doctor will conduct a series of test to check for the level of creatinine. One of the commonly used tests is serum creatinine test. It measures the amount of creatinine in the bloodstream. The doctor can also perform another test, which is called creatinine urine test.

If the level of creatinine is abnormally low, the doctor will exert the necessary measures needed to significantly bring the level of creatinine in its normal state. ⁽⁹⁾

Low BUN (blood urea nitrogen) creatinine ratio

How to increase creatinine levels?

How can you increase your creatinine levels? What you should do to normalize the level of creatinine? The treatment and management for low creatinine primarily depends on the underlying cause. If the cause of low creatinine level is muscular disease, the focus of care should be on reducing muscle pain, weakness, and muscular degeneration.

The patient is put on corticosteroid to significantly improve the strength of the muscles. If need, the patient should undergo therapy so as to improve the quality of life. In the case of low creatinine during pregnancy, do not worry as it will normalize after giving birth. ^{(1, 10)}

The patient is also advised to perform physical activities as it can significantly increase muscle mass and help normalize the level of creatinine in the blood. Brisk walking, biking, swimming, and aerobics can all improve muscle mass. The doctor will also work on your nutrition to ensure that you won’t be losing extreme weight. Ideally, the patient is advised to eat five to six healthy meals a day. The diet should contain protein-rich foods along with fruits and vegetables. ^{(2, 3, 5)}

Physical therapy is a must, especially for patients with severe muscle wasting such as in the case of myasthenia gravis. Physical therapy can delay the progression of muscular dystrophies.

If low creatinine level is caused by a liver disease, the patient is put on aggressive liver medications. Lifestyle changes are also recommended. The patient should avoid drinking alcoholic beverages and refrain from doing things that can damage the liver. The underlying liver disease should be treated accordingly.

Prognosis for low creatinine levels

People who have low creatinine level have a positive prognosis for as long as they receive the necessary treatment and medical attention. Lifestyle and diet modification are strictly advised so as to normalize the level of creatinine in the body. ^{(6, 7, 8)}

References:

1. www.webmd.com
2. www.healthline.com
3. www.livestrong.com
4. www.stylecraze.com
5. www.netdoctor.co.uk
6. mddk.com
7. www.medicinenet.com
8. www.onlymyhealth.com
9. www.just-health.net
10. https://medlineplus.gov

The tongue is one of the five sensory organs of the body. It is a muscular organ covered with mucosa (moist pink tissues).

The tongue has a rough texture because of its papillae (tiny bumps). There are thousands of taste buds in the tongue. They are nerve-like cells connecting to the nerves into the brain. The four common tastes are sweet, salty, sour, and bitter. ^{(1, 2)}

Image 1: The human anatomy of the tongue
Picture Source: nursingcrib.com

Picture 2: The muscles of the tongue
Photo Source: image.slidesharecdn.com

Image 3: The different papillae of the tongue
Picture Source: image.slidesharecdn.com

The parts of the tongue and their functions

The tongue has three surfaces:

• Tip – It is the highly mobile part of the tongue, the pointed anterior part.
• Body – It is located in the posterior part of the tip. It has two surfaces: the ventral surface of the tongue and the dorsal part. It has a structure called median sulcus, which equally separates the tongue into left and right. It has another structure called terminal sulcus (groove). It is a V-shaped furrow separating the body from the base of the tongue. In its tip lies the foramen cecum, which is a remnant of the proximal thyroglossal duct.
• Base – It contains the lingual tonsils. ^{(4, 10)}

The papillae in the tongue

The surface of the tongue is rough because of the presence of lingual papillae. They are a projection of lamina propria covered with epithelium. There are different types of lingual papillae. These are:

• Vallate (circumvallate) – They are flat and prominent papillae surrounded by troughs. The human tongue has 8 to 12 vallate papillae situated to the anterior terminal sulcus.
• Foliate – They are small folds of mucosa located in the lateral surface of the tongue.
• Filiform – They are thin and long found along the entire dorsum of the tongue.
• Fungiform – Their shapes are like mushrooms and a numerous number can be found along the tip and lateral surface of the tongue. There are 200 to 300 fungiform papillae in the human tongue. ^{(2, 3, 4)}

The muscles in the tongue

The tongue muscles are divided into two: the intrinsic and extrinsic muscles. The fibrous lingual septum separates the muscles on each side of the tongue.

Extrinsic muscles

They originate outside the tongue and insert within it. They alter the position of the tongue. The extrinsic muscles of the tongue include genioglossus, hyoglossus, styloglossus, and palatoglossus. ⁽⁵⁾

Intrinsic muscles

They are found within and do not insert on the bones. They alter the shape of the tongue. Examples of intrinsic muscles of the tongue are superior and inferior longitudinal, transverse, and vertical. The superior longitudinal muscles lie beneath the mucous membrane.

They shorten the tongue and make the dorsum concave. The inferior longitudinal muscles lye close to the inferior muscles of the tongue. It lies between hyoglossus and genioglossus and responsible in shortening the tongue. On the other hand, the transverse muscle extends from the middle septum to the margins. Its function is to narrow and elongate the tongue.

The vertical muscle is situated at the borders of the anterior portion of the tongue. It is responsible in broadening and flattening the tongue. ^{(6, 7)}

The vessels in the tongue

The arterial blood supply of the tongue comes from the external carotid artery specifically the lingual artery. It gives rise to three main branches namely the dorsal lingual, deep lingual, and sublingual arteries.

• Dorsal lingual artery – It supplies blood to the base of the tongue.
• Deep lingual artery – It travels on the lower surface of the tongue going to the tip.
• Sublingual artery – it is the artery that braches to the sublingual gland and floor of the mouth.
• Deep lingual vein – It begins at the tip of the tongue and travels posteriorly joining the sublingual vein.
• Dorsal lingual vein
• Internal jugular vein ⁽⁸⁾

The nerve supply

• Hypoglossal nerve – The hypoglossal nerve is the primary nerve of the tongue. It is responsible for all motor innervation of the muscles of the tongue.
• Lingual nerve – it is responsible for general sensation of the anterior 2/3 of the tongue. It is actually a division of the trigeminal nerve.
• Lingual tonsillar branch of the glossopharyngeal nerve – Responsible for the sensation of the posterior 2/3 of the tongue. ^{(8, 9)}
• Internal laryngeal branch of the superior laryngeal nerve – It is responsible in some general and taste sensation from the base of the anterior part of the tongue to the epiglottis.

Lymphatic Drainage

The tongue has a complex lymphatic drainage. The lymph on one side can reach the nodes of both sides of the neck. The lymphatic drainage consists of the following:

• Tip – It drains directly to deep cervical nodes or to the submental nodes.
• Central lymphatics – They drain to the deep cervical nodes of either sides.
• Posterior – The drain is direct and bilateral to the deep cervical nodes. The deep cervical nodes include both the jugulo-omohyoid nodes and the jugulodigastric nodes. ^{(1, 3)}

What are the functions of the tongue?

Taste

The primary function of the tongue is for tasting. It has taste buds and sensory receptors responsible for distinguishing taste. How does the tongue distinguish taste? A tastant, a chemical that stimulates taste receptor is dissolved in the saliva and gets in contact with the plasma membrane of the gustatory hairs, the site of taste transduction. ⁽¹⁰⁾

Speech

The tongue has intrinsic muscles enabling and defining the shape of the tongue, which affects speech. Articulation primarily relies on the movement of the tongue. ⁽¹⁰⁾

Mastication

The tongue plays a very important role in the digestive processes. It helps the teeth and other parts of the mouth with chewing foods for softening before swallowing. The tongue has the ability to grind against the hard palate without being irritated or damaged. ^{(2, 6)}

Cleaning

The tongue’s movement helps dislodge the particles of foods that are stuck in between the teeth and gums.

Intimacy

The tongue plays an important role in physical intimacy and sexuality. It is a part of the erogenous zone of the mouth. It can be used for intimate contacts. A perfect example is a French kiss. ^{(4, 7)}

References:

1. www.webmd.com
2. https://en.wikipedia.org
3. www.healthhype.com
4. https://slideshare.net
5. www.innerbody.com
6. www.purposegames.com
7. www.oluwoleogunranti.com
8. www.cancer.ca
9. www.organsofthebody.com
10. Anatomy & Physiology for Speech, Language, and Hearing By J. Anthony Seikel, David G. Drumright, Douglas W. King

What is a Pfeiffer syndrome?

It is a genetic disorder causing premature fusion of some bones of the skull. As a result, the skull fails to grow normally leading to a distorted shape of the head and face. Pfeiffer syndrome does not only affect the bones of the skull, but also the bones of the hands and feet.

There are three subtypes of Pfeiffer syndrome. They are:

• Pfeiffer syndrome type I (classic Pfeiffer syndrome) – Patients have normal intelligence and a normal lifespan but have the typical manifestations of the disease. The patient has craniosynostosis causing the head to look elongated vertically. The patient has a high forehead, wide spaced eyes, underdeveloped mid-facial regions, underdeveloped upper jaw, dental abnormalities, and prominent lower jaw. ^{(1, 2)}
• Pfeiffer syndrome type II – Type II has severe craniosynostosis. The abnormalities in the hands and feet are severe and there is also malformation of the limb. The skull appears tri-lobed in appearance (cloverleaf skull deformity). There is a severe protrusion of the eyes, broad forehead, low set ears, beak shaped nose, and rare cases of visceral anomalies (abnormalities in the internal organ). Patients have intellectual disabilities and neurologic problems. Eventually, patients could experience life threatening complications if proper treatment are not given. ⁽³⁾
• Pfeiffer syndrome type III – It is a severe forms of Pfeiffer syndrome and usually affects the nervous system. Patients with this type of Pfeiffer syndrome have delayed brain development and other neurological abnormalities. It also has bone fusion in the elbows and other joints in the body. As a result, patient’s mobility is limited and experience abnormalities on the face and airways. Clinical manifestations of type III Pfeiffer syndrome include a shortened base of the skull, ocular proptosis, presence of teeth at birth (natal teeth), and visceral anomalies. Patients also have severe neurological problems and intellectual disabilities. ^{(4, 5)}

Pfeiffer syndrome Images

Image 2: An eight month old child with Pfeiffer syndrome
Picture Source: www.chop.edu

Photo 2: The different types of Pfeiffer syndrome
Picture Source: drugsdetails.com

The typical symptoms of Pfeiffer syndrome include the following:

• Bulging of the eyes
• Wide set eyes
• Underdeveloped upper jaw
• High forehead
• Beaked nose
• Dental problems
• Hearing loss
• The thumbs and big toes are wide and bend away from other digits
• Brachydactyly (short fingers and toes)
• Syndactyly (fusion/webbing between the digits) ⁽⁶⁾

Pfeiffer disease is known in other names such as ACS V, Noack syndrome, craniofacial skeletal dermatologic dysplasia, and acrocephalosyndactyly. ^{(6, 7)}

Cause of Pfeiffer syndrome

Pfeiffer syndrome is a result of a glitch in the genes that control the growth of certain cells. This condition is hereditary, which means that it can be passed on from a parent to a child. There are also instances wherein the parents don’t have the syndrome but the baby still has it.

Most cases of Pfeiffer syndrome type II and III originate from new mutations (FGFR2 mutation). Type one is linked with gene mutation FGFR1 and FGFR2. ⁽¹⁰⁾

How is Pfeiffer syndrome diagnosed?

The doctor will conduct a thorough physical examination to check for signs and symptoms of Pfeiffer syndrome. The doctor will examine the skull, thumbs, and big toes. The doctor will also order additional test to confirm the patient’s diagnosis.

• Imaging studies like X-ray and CT scan.
• Genetic testing
• Laboratory test ^{(6, 7, 8)}

Pfeiffer Syndrome Treatment

The treatment of choice for patients with Pfeiffer syndrome is surgery. The site of surgery primarily depends on the affected parts of the body.

1. Skull surgery – Surgery is required to reshape the skull. This is done before the child turn 18 months old. If the patient is under three months old, a small opening in the head is created. For older patients, the doctor uses traditional surgery. Over the course of the patient’s lives, he/she needs two to four surgeries of the skull. ⁽⁹⁾
2. Mid-face surgery – Some patients need to correct deformities in the jaw. Before this surgery is done, make sure that the children is at least 6 years old.
3. Correcting breathing problems – Some patients experience blockage, which affects their breathing. It could lead to a condition called sleep apnea. There are a variety of techniques to correct this problem such as wearing a special mask while sleeping (CPAP), continuous positive airway pressure. The blockage can be removed with the help of mid-face surgery. What the doctors will do is to remove the tonsils or adenoids. For severe cases, the doctor will perform tracheostomy. It is a procedure wherein the doctor will create an opening in the neck of the patient to ease the breathing. ^{(1, 2, 5)}
4. Other treatment approach includes dental work to address issues like out of position teeth and underbite, surgery of the fingers and toes, and therapy to correct the speech and language difficulty.

What is Pfeiffer syndrome life expectancy?

What is Pfeiffer syndrome prognosis? What is the life expectancy of people with Pfeiffer disease? Those with Pfeifer syndrome type 1 usually live a normal life and life span. Unfortunately, those with Pfeiffer syndrome type II and III have the high chance of developing complications, which could shorten their life expectancy. ^{(1, 10)}

Pfeiffer syndrome is named after Rudolf Arthur Pfeiffer. He described eight people in three generations of family who has acrocephalosyndactylia (abnormalities of the head, hands, and feet). It is a condition that is inherited in an autosomal dominant pattern. It affects one out of 100, 000 babies.

It is caused by mutation in one of two genes that are responsible in the bone development of an infant. It causes speed up in bone production leading to premature fusion of bone in the skull. Treatment and management for Pfeiffer syndrome primarily depend on the severity of the condition. If proper treatment, care, and management is given to the patient, he/she could have a positive prognosis, although type II and type III Pfeiffer syndrome is extremely difficult to treat. ^{(6, 7, 9)}

References:

1. https://ghr.nlm.nih.gov
2. www.medicinenet.com
3. https://en.wikipedia.org
4. https://rarediseases.org
5. www.faces-cranio.org
6. www.webmd.com
7. www.health.com
8. www.seattlechildrens.org
9. www.ccakids.com
10. Management of Genetic Syndromes By Suzanne B. Cassidy, Judith E. Allanson