Health and Fitness

REYE SYNDROME Overview Reye's syndrome, also known as Reye syndrome, is a rare but serious condition that causes swelling in the liver and brain. Reye's syndrome can occur at any age but usually affects children and teenagers after a viral infection, most commonly the flu or chickenpox. Symptoms such as confusion, seizures and loss of consciousness need emergency treatment. Early diagnosis and treatment of Reye's syndrome can save a child's life. Aspirin has been linked with Reye's syndrome, so use caution when giving aspirin to children or teenagers for fever or pain. Though aspirin is approved for use in children older than age 3, children and teenagers recovering from chickenpox or flu-like symptoms should never take aspirin. For the treatment of fever or pain, consider giving your child infants' or children's acetaminophen (Tylenol, others) or ibuprofen (Advil, Motrin, others). They're safer alternatives to aspirin. Talk to your health care prov...

 REFSUM DISEASE Summary Refsum disease is a metabolic disorder characterized by the build-up of a fat (lipid) called phytanic acid in blood plasma and tissues. Individuals with Refsum disease are usually normal at birth, but between the ages of 10 and 20 years old, symptoms begin to develop starting with loss of night vision (retinitis pigmentosa), and eventually including weakness in arms and legs or unsteadiness (cerebellar ataxia). Other common symptoms include a loss of sense of smell (anosmia), rough, scaly skin (ichthyosis) and after many years, deafness. Treatment for Refsum disease is based on limiting the intake of foods high in phytanic acid. Our bodies cannot make phytanic acid; rather, it is found in foods such as dairy, beef, lamb, and some seafoods. Refsum disease is caused by a change (mutation) in the gene that makes an enzyme responsible for breaking down phytanic acid, a particular type of fatty acid which is derived by bacterial fermentation of green plants or al...

 Craniofacial Syndromes OVERVIEW What is a Craniofacial Malformation? Craniofacial malformations are some of the most common structural birth defects. CAUSES What causes craniofacial malformations? Craniofacial malformations often are the result of genetic disorders and may be associated with developmental and functional abnormalities, such as: Abnormal brain growth Hearing loss Difficulty with breathing, chewing, swallowing, and speech Sometimes referred to as craniofacial anomalies, craniofacial malformations range from cleft lip and palate to congenital growths and tumors, as well as complex craniofacial dysostosis and encephaloceles, in which the bones in the skull and face fuse abnormally. Treatment for these complex conditions may involve many specialties, including neurosurgery. When appropriate, UPMC surgeons may use the Endoscopic Endonasal Approach (EEA) to reach and correct certain craniofacial malformations. This innovative, minimally invasive technique uses the nose an...

  Dermatologic Manifestations of Niemann-Pick Disease OVERVIEW What Is Niemann-Pick Disease? Niemann-Pick disease is an inherited disease that affects lipid metabolism, or the way fats, lipids, and cholesterol are stored in or removed from your body. People with Niemann-Pick disease have an abnormal lipid metabolism that causes a buildup of harmful amounts of lipids in various organs. The disease primarily affects the: *liver *spleen *brain *bone marrow This leads to enlargement of the spleen and neurologic problems. The disease is broken down into types A, B, C, and E. Originally there was a type D, but research has found that it’s a variant of type C. Types A and B are referred to as type 1. Type C is referred to as type 2. Type E is a less common version of Niemann-Pick that develops in adulthood. Affected organs, symptoms, and treatments vary based on the particular type of Niemann-Pick disease. However, every type is severe and can shorten a person’s life expectancy. SYMPTOMS ...

 Dandy-Walker Malformation Imaging OVERVIEW DWM is a complex constellation of findings, including VH/agenesis, cystic dilatation of the fourth ventricle, and an enlarged posterior fossa with upward displacement of the tentorium cerebelli and torcula herophili. Frequently, there are signs of hydrocephalus, with dilatation of the third and lateral ventricles . The terms “Dandy-Walker variant” or “Dandy-Walker complex” have been used to describe less severe forms of DWM, usually in cases when the posterior fossa is not enlarged, but the usage of these terms is discouraged because of their lack of specificity (Bosemani et al., 2015). It may be difficult to distinguish DWM from other fluid collections causing upward rotation of the cerebellum. The measurement of the brainstem–vermian and brainstem–tentorium angles, which range from 4 to 17 and 21 to 44 degrees, respectively, may be helpful. Angles greater than 45 degrees suggest DWM (Volpe et al., 2012). DWM is the most common congenita...

  Cystinosis Summary Cystinosis is a rare, multisystem genetic disorder characterized by the accumulation of an amino acid called cystine in different tissues and organs of the body including the kidneys, eyes, muscles, liver, pancreas and brain. Generally, cystinosis is broken down into three different forms known as nephropathic cystinosis, intermediate cystinosis and non-nephropathic (or ocular) cystinosis. The age of onset, symptoms, and severity of cystinosis can vary greatly from one person to another. Nephropathic cystinosis presents in infancy and is the most common and severe form. Early detection and prompt treatment are critical in slowing the development and progression of symptoms associated with cystinosis. The kidneys and eyes are the two organs most often affected. Individuals with nephropathic or intermediate cystinosis ultimately require a kidney transplant. Non-nephropathic cystinosis only affects the corneas of the eyes. Cystinosis is caused by mutations of the ...

Tolosa-Hunt Syndrome OVERVIEW Tolosa-Hunt syndrome is a rare disorder characterized by severe periorbital headaches, along with decreased and painful eye movements (ophthalmoplegia). Symptoms usually affect only one eye (unilateral). In most cases, affected individuals experience intense sharp pain and decreased eye movements. Symptoms often will subside without intervention (spontaneous remission) and may recur without a distinct pattern (randomly). Affected individuals may exhibit signs of paralysis (palsy) of certain cranial nerves such as drooping of the upper eyelid (ptosis), double vision (diplopia), large pupil, and facial numbness. The affected eye often abnormally protrudes (proptosis). The exact cause of Tolosa-Hunt syndrome is not known, but the disorder is thought to be associated with inflammation of specific areas behind the eye (cavernous sinus and superior orbital fissure). Signs & Symptoms Many individuals with Tolosa-Hunt syndrome experience the sudden onset of se...

 Methylmalonic Acidemia Disease Overview The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). This results in an abnormally high level of acid in the blood (academia) and body tissues. In the acute form, drowsiness, coma, and seizures may occur. Mental retardation is a long-term consequence. The disorder may be caused by a deficiency of one or more of the enzymes methylmalonyl CoA mutase, methylmalonyl racemase, or adenosylcobalamin synthetic enzymes. Excretion of methylmalonate, a product of amino acid metabolism, in the urine is abnormally high and therefore is a marker of the disorder. All known organic acidemias are inherited as autosomal recessive traits. Signs & Symptoms The onset of the Methylmalonic Acidemias usually occurs during the first few months of life although onset to late childhoods has been described. Symptoms may include lethargy, failure to thriv...

 Pick Disease overview  When we think about dementia, we usually picture memory loss as the first sign. Pick's disease, and FTDs altogether, remind us that dementia has other faces as well. Language, personality, and behavior, affected early in Pick's disease and other frontal lobe dementias can deteriorate before prominent memory changes are noted. For clinicians and caregivers, this is a reminder that cognition is a broader term than memory, and that changes in personality or language, not just memory changes, require careful evaluation. Causes People with FTD have abnormal substances (called tangles, Pick bodies, Pick cells, and tau proteins) inside nerve cells in the damaged areas of the brain. The exact cause of the abnormal substances is unknown. Many different abnormal genes have been found that can cause FTD. Some cases of FTD are passed down through families. FTD is rare. It can occur in people as young as 20. But it usually begins between ages 40 and 60. The average ...