Refsum Disease

Question: Infantile Refsum Disease - what causes it? My cousins baby was diagnosed with this. Could it be confused with shaking a baby? My cousin has 2 kids - and can't take care of herself much less kids. She gave the 1st one up and took him back after the rough time with a premie was over. She has lost him several times ( he was found 3 blocks away by police, neighbors have found him wandering &called police, landlord has found him etc..), and left him sitting in a car on a hot day because she forgot him. With the second one she had no one to take the baby so she kept it and finally married that one's daddy. When the baby was 6 mo she got pregnant again. The daddy left apt, & a couple minutes later she left apt to go visit friends 2 doors down, later the 2 yr old left the apt and the baby was all alone. I don't know when anyone went back. I'm worried she might have left the baby with my aunt who is a known child abuser, or that the mommy might have hurt the baby herself. So I am trying to find out if they made the right diagnoses.

Answer: Infantile Refsum disease is a disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the body and by the accumulation of phytanic acid in blood plasma and tissue. Infantile Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering -- which acts as an insulator -- on nerve fibers in the brain. Symptoms may include visual impairments including retinitis pigmentosa and nystagmus (rapid, involuntary jerky eye movements), hearing impairments, hypotonia (decreased muscle tone), failure to thrive, developmental delay, ataxia (impaired muscle coordination), hepatomegaly (enlargement of the liver), hypocholesterolemia (an abnormally diminished amount of cholesterol in the blood), and mild facial dysmorphism (abnormalities in the form and structure of the face). Onset of the disorder begins in early infancy. Is there any treatment? There is no cure or standard course of treatment for infantile Refsum disease. Treatment is symptomatic and supportive. What is the prognosis? The prognosis for individuals with infantile Refsum disease is poor. Death generally occurs in the second decade of life.

Question: what is Refsum`s disease?

Answer: Refsum's disease Also known as: Refsum's syndrome Refsum-Thiébaut disease Refsum-Thiébaut syndrome Refsum-Thiébaut-Klenk-Kahlke disease Synonyms: Ataxia hereditaria hemeralopia polyneuritiformis, hemeralopia heredotaxia polyneuritiformis, hereditary motor sensory neuropathy, type IV, heredopathia atactica poluneuritiformis, phytanic acid storage syndrome. Associated persons: W. Kahlke E. Klenk Sigvald Bernhard Refsum M. F. Thiébaut Description: This rare disorder was the first example of an inherited disorder in fatty acid oxidation. It is characterized by phytanic acid accumulation in the blood and tissues. The symptoms consist of night blindness (the earliest symptom), progressive nerve deafness, atypical retinitis pigmentosa, progressive concentric constriction of visual fields, lenticular opacity, peripheral polyneuropathy, absent or diminished deep tendon reflexes, cerebellar ataxia, loss of sense of smell, unsteady gait, loss of position sense, intention tremor, nystagmus, heart disease with ECG changes, ichtyosis, hyeprkeratosis palmaris et plantaris, epiphyseal dysplasia, syndactyly, hammer toe, pes cavus, urinary sphincter impairment, and osteochondritis. Onset is in childhood or adolescence up to 30 years of age. The course is progressive, with periods of stagnation and partial remission. Refsum, who observed it in five members of two unrelated Norwegian families, first reported the condition in 1945. His patients aged 25 to 41 years, were all born of consanguineous parents. The condition has since been observed in children. Inheritance is autosomal recessive. This condition has been shown to be a disorder of lipid metabolism. In 1963 the German scientists E. Klenk and W. Kahlke detected large amounts of a peculiar branched-chain fatty acid, phytanic acid, in a Refsum patient. Dietary treatment started in Norway in 1966 under professor Lorentz Eldjarn (born 1920), Head of the Central Laboratory and Institute for Clinical Biochemistry at the Oslo University Hospital, Rikshospitalet.

Question: Can someone check this sentence for grammar? It's a sentence from my research analysis of a case study. "If Refsum disease is treated early, then the progression of the disease stops, therefore preventing the patient from reaching the deadly stages of the disease where the neurological aspect gets involved. does the sentence flow well gramatically? if not, any suggestions for improvement?

Answer: I would change "where" to "when", othewise just a bit redundant. "If Refsum is treated early, the patient is prevented from reaching the deadly stages of the disease when the neurological aspect gets involved." Also, "getting involved" seems almost metaphorical. Perhaps.... "If Refsum is treated early, the patient is prevented from reaching the deadly stages of the disease when the neurological damage occurs."