1/4. Not a new leukodystrophy but congenital cytomegalovirus infection.We report a 16-month-old girl who presented with global developmental delay and hearing loss. Cranial magnetic resonance imaging demonstrated a pattern that could be interpreted as a "new leukoencephalopathy." Etiologic investigations revealed a positive polymerase chain reaction for cytomegalovirus dna using her stored Guthrie card, indicating a congenital cytomegalovirus infection.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/4. 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 = 1070.5095905896keywords = facioscapulohumeral muscular dystrophy, facioscapulohumeral, muscular dystrophy, dystrophy (Clic here for more details about this article) |
3/4. 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 = 1177.0594792256keywords = facioscapulohumeral muscular dystrophy, facioscapulohumeral, muscular dystrophy, dystrophy (Clic here for more details about this article) |
4/4. Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?We describe a family with an autosomal dominant, multisystem disorder, consisting of late-onset proximal muscular dystrophy, electrophysiological myotonia, cataracts, late-onset deafness and male hypogonadism. Four patients were available for clinical examinations. Examination of asymptomatic family members revealed another patient with bilateral cataracts but without definite muscle disorder. Five deceased members of the family had proximal muscle weakness, reportedly or confirmed in medical records. Molecular examination of genomic dna showed no expansion of the unstable (CTG)n trinucleotide repeat on chromosome 19q13.3 associated with myotonic dystrophy (DM). Linkage to two loci implicated in other myotonic disorders, the muscle chloride channel (CLCN1) gene, and the muscle sodium channel (SCN4A) gene, was assessed and excluded. The clinical findings differ from those described in proximal myotonic myopathy (PROMM), in terms of the more severe muscle involvement with atrophy of affected muscles and the hearing loss. These findings suggest phenotypic and probably genetic heterogeneity among the proximal myotonic syndromes.- - - - - - - - - - ranking = 14.551007586329keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |