1/6. A child with reading impairment and a family history of adrenoleukodystrophy.The clinical course of a 6-year-old boy with adrenoleukodystrophy (ALD) who underwent allogeneic stem-cell transplantation during an early clinical stage is described. Twenty-three months after transplant, he remains neurologically stable, but with moderate neurological sequelae; the serum very long chain fatty acid profile has improved, but not normalized. The indications, mechanism of action, and complications of bone marrow transplantation in ALD are discussed briefly, along with other potential therapies.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/6. Metachromatic leukodystrophy and nonverbal learning disability: neuropsychological and neuroradiological findings in heterozygous carriers.Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disorder due to deficiency of the enzyme arylsulfatase A that leads to progressive, diffuse demyelination. The syndrome of nonverbal learning disability has been attributed to white matter abnormality and has been reported in children with this disorder and in some healthy family member carriers of gene. We examined the neuropsychologic profiles and MRIs of eight members of the family of a 7-year-old girl with this disease, all of whom were heterozygous carriers of the mutation and five of whom were also carriers of the MLD pseudodeficiency gene. All had low normal levels of arylsulfatase A, and seven of the eight had average or better profiles across all assessed neuropsychological domains. The patient's younger sister had a profile with features of the syndrome of nonverbal learning disability despite a normal MRI, whereas two members with minor white matter findings did not. This family does not provide evidence for the syndrome of nonverbal learning disability in heterozygous carriers of the gene for MLD, even when associated with the MLD pseudodeficiency gene.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
3/6. Adrenal functions in children with adrenoleukodystrophy.BACKGROUND: adrenoleukodystrophy refers to an inherited disorder that mainly affects the adrenal gland, and the nervous system. The most common type is X-linked adrenoleukodystrophy (XALD). The main presenting symptoms are behavioral changes. However, endocrinological manifestations are also important and need to be clarified especially adrenal insufficiency which is a lifethreatening condition that can be prevented. OBJECTIVE: To review the endocrinological and the adrenal functions in X-linked ALD. SUBJECTS AND METHOD: The medical records of four patients diagnosed with ALD at the endocrinology and Metabolic Unit, Department of pediatrics, King Chulalongkorn Memorial Hospital between 1998 and 2000 were reviewed. The diagnoses were confirmed by elevated very long chain fatty acid (VLCFA) levels and the typical changes seen on magnetic resonance imaging (MRI) of the brain. The adrenal functions in these patients were studied. RESULTS: All patients presented between 7-11 years of age with learning problems and behavioral changes, without symptoms of adrenal insufficiency such as nausea, vomiting and abdominal pain. However, the physical signs of adrenal insufficiency such as generalized hyperpigmentation particularly on the nipples, skin creases and genitalia were present. The laboratory investigations revealed normal blood sugar and serum electrolytes. The adrenal functions were revealed as follows. Basal ACTH levels were high in 2 cases (290, > 1,250 pg/mL). Basal cortisol level was low in 1 case. ACTH stimulation tests revealed subnormal responses in 3 cases. magnetic resonance imaging of the brain showed white matter degeneration in the occipital area in 2 cases and frontal area in 2 cases. CONCLUSION: adrenal insufficiency can be detected by laboratory evaluation despite the lack of symptoms, therefore, the adrenal function should be evaluated in X-ALD at diagnosis for proper management.- - - - - - - - - - ranking = 1.2keywords = dystrophy (Clic here for more details about this article) |
4/6. Facioscapulohumeral muscular dystrophy can be a cause of isolated childhood cognitive dysfunction.Facioscapulohumeral muscular dystrophy is one of the most prevalent muscular dystrophies in the world, resulting from the deletion of tandem repeats on chromosome 4q35. Extramuscular associations include sensorineural hearing loss, mental retardation, and epilepsy. These manifestations are commonly found in those with large deletions and early onset of weakness. A 26-year-old patient with a long-standing history of hearing loss, learning disabilities, and epilepsy presented with new-onset weakness and an elevated serum creatinine kinase level. genetic testing confirmed sporadic facioscapulohumeral muscular dystrophy with a fragment length of 12 kilobases (normal > 35 kilobases). This unique presentation suggests that facioscapulohumeral muscular dystrophy should be considered in the differential diagnosis of children with cognitive impairment, seizures, and hearing loss.- - - - - - - - - - ranking = 2333.7162954648keywords = facioscapulohumeral muscular dystrophy, facioscapulohumeral, muscular dystrophy, dystrophy (Clic here for more details about this article) |
5/6. Facioscapulohumeral muscular dystrophy (landouzy-dejerine type) in a Nigerian female: a case report.BACKGROUND: Muscular dystrophy is not an uncommon entity in Nigerian medical clinics. The facioscapulohumeral type represents a rare variety of the disorder with its own distinctive characteristics but is not expected to have significant cardiac manifestations. METHOD: The case report of a 17-year-old Nigerian female with facioscapulohumeral muscular dystrophy and significant cardiac dysfunction is presented and the relevant literature is reviewed. RESULTS: A 17-year-old Nigerian female presented with 18 month history of shortness of breath on mild to moderate exertion, generalized weakness, weight loss and abnormal gait. leg swelling developed a few weeks prior to presentation. Intrauterine life and early childhood were uneventful while her family history was unremarkable. She had typical features of facioscapulohumeral muscular dystrophy but in addition demonstrated evidence of significant cardiac impairment, which is uncommon and not typically expected in this disorder. CONCLUSION: It is important for clinicians to comprehensively evaluate every patient presenting with a hitherto "clear "diagnosis in order to unmask unexpected associated clinical details.- - - - - - - - - - ranking = 2570.3025915592keywords = facioscapulohumeral muscular dystrophy, facioscapulohumeral, muscular dystrophy, dystrophy (Clic here for more details about this article) |
6/6. adrenoleukodystrophy: a link between adrenal insufficiency and school performance.The combination of neurodevelopmental regression and adrenal insufficiency should alert practitioners or emergency room physicians about ALD. Although still unproven, early medical intervention with either gene therapy or bone marrow transplantation may offer more promise to these patients.- - - - - - - - - - ranking = 0.8keywords = dystrophy (Clic here for more details about this article) |