Refsum disease rd is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and. Refsum disease is an inherited condition that causes vision loss, loss of smell anosmia, and a variety of other signs and symptoms. Vision loss and anosmia are seen in almost everyone with refsum disease, but other signs and symptoms vary. Las anormalidades cerebrales incluyen retardo sicomotor, hipotonia, epilepsia y sordera, las anorma. Refsum disease is one of a family of genetic disorders known as the. Refsum disease is a rare disorder of lipid metabolism that is inherited as a recessive trait. Symptoms may include a degenerative nerve disease peripheral neuropathy, failure of muscle coordination ataxia, retinitis pigmentosa a progressive vision disorder, and bone and skin changes. Infantile refsums disease, neonatal ald and zellweger syndrome. Techniques in diagnostic human biochemical genetics. Mar 17, 2019 in, crofton included loffler syndrome as one of the 5 categories for conditions that cause pulmonary infiltrates with eosinophilia. I sintomi includono retinite pigmentosa e nistagmo movimento involontario e rapido degli occhi, ipotonia, epatomegalia ingrossamento del fegato, ipocolesterolemia diminuzione del colesterolo nel sangue, elevato contenuto di. The vision loss associated with refsum disease is caused by an eye disorder called retinitis pigmentosa.
Case report vaishali choksi, ellen hoeffner, ercan karaarslan, cengiz yalcinkaya, and sinan cakirer summary. Information for patients, their families, and helpers what adult refsum s disease is, and what to do if you are affected by it. Refsum disease genetic and rare diseases information. This disorder affects the retina, the lightsensitive layer at the back of the eye. Welcome to the adult refsum s disease website it contains. Symptoms of refsum disease may include vision impairment, degenerative nerve disease. Refsums disease is caused by defective alpha oxidation of phytanic acid. Clinicians will also find much of interest here, especially the section on diet for treatment of adult refsum s disease. Tel 91 05 control of brown rat rattus norvegicus enferjedad a dairy farm in serbia. Conceito compreende uma rara e grave variante da preeclampsia, conforme descreve weinstein, em. The diagnosis of refsum disease is suspected on the basis of clinical findings and a. Information for clinicians more detailed and specialist material. Diagnosis and management of inborn errors of metabolism iem. Infantile refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, zellweger syndrome spectrum pbdzss.
Allen ginsbergs kaddish, a long poem written about the madness and death of his mother, naomi, if you are looking for the book kaddish and other poems. Refsum disease nord national organization for rare disorders. Pbdzss is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. Refsum disease, infantile form genetic and rare diseases. Pdf on dec 1, 2009, angela del socorro franco castro and others published. Vision loss occurs as the lightsensing cells of the retina. The disorders of peroxisome biogenesis include zellweger syndrome, neonatal adrenoleukodystrophy and infantile. Refsum in 1945 first described the syndrome of heredoataxia hemeralopia polyneuritiformis in a series of five cases in two unrelated. Refsum disease, peroxisomes and phytanic acid oxidation oxford. Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell anosmia, and a variety of other signs and symptoms. Pdf on dec 1, 2009, angela del socorro franco castro and others published caso clinico.
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