Neuropediatrics
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Case Reports Comparative Study
Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.
The merosin M-chain (or laminin-alpha 2) is one of three subunits of laminin-2 which is highly expressed in striated muscle and peripheral nerve. Complete lack of laminin-alpha 2 expression in skeletal muscle is the hallmark of one form of congenital muscular dystrophy which is characterized by dysmyelination of the central nervous system (CNS), links to chromosome 6q2 and is common among Caucasians. ⋯ These findings show that in spite of partial phenotypic overlap between Fukuyama CMD and Walker-Warburg syndrome the two disorders are nosologically separate disease entities. They also exclude that Walker-Warburg syndrome is allelic to the common form of congenital muscular dystrophy with laminin-alpha 2 deficiency.
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A few days after a judo session, an 11-year-old boy presented with an ischemic stroke with dizziness, aphasia and ataxia. CCT scan revealed a left thalamic infarct. Angiography showed a fibromuscular dysplasia (FMD) of the left vertebral artery probably complicated by dissection. ⋯ This observation points out the fact that the association of a cervical pain with neurological signs of vertebrobasilar stroke, especially occurring after a cervical trauma or rotatory motion, should alert to the possibility of vertebral-artery dissection. The diagnosis is mainly based on angiographic criteria. Accurate diagnosis has implications for prognosis and probably for acute medical treatment.
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Electroencephalograms (EEGs) were recorded on 36 infants who were treated with arteriovenous extracorporeal membrane oxygenation (ECMO) between 1986 and 1989. Twelve of 36 infants had EEGs prior to and during ECMO. Twenty-one infants who met ECMO criteria but were treated with mechanical ventilation only served as a comparison (COMP) group. ⋯ Cerebellar hemorrhages occurred in 3 ECMO patients. Ischemic lesions occurred in 3 of the 21 (14%) COMP patients, all occurring on the left side. In the ECMO group, severe outcome or death was significantly associated with the presence of electrographic seizures, status epilepticus, and suppression-burst pattern (p < 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)
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The case of a 9-year-old boy is presented, who developed transient mutism after removal of a medulloblastoma in the region of the cerebellar vermis. The mutism disappeared within 6 months. Neither reduction of consciousness nor disturbances of caudal cranial nerves or phonation ever appeared. The case is discussed with regard to its phenomenology, pathogenesis, and etiology, corresponding case reports are also taken into consideration.
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Dystrophin is the gene product of the Duchenne (DMD) and Becker (BMD) muscular dystrophy gene locus on the short arm of the X chromosome. Complete lack of dystrophin is pathognomonic for DMD and variable changes of the molecule may be observed in the milder allelic form of BMD. In the present study the two methods available for dystrophin assessment, immunofluorescence detections on cryosections (IF) and Western blotting (WB) were systematically compared using polyclonal and monoclonal antibodies to various regions along the dystrophin molecule. ⋯ In 20 other patients limb girdle muscualar dystrophy with "Duchenne-like" or "Becker-like" phenotype was suspected because dystrophin showed normal abundance and distribution. Focal discontinuity of muscle cell-surface dystrophin staining was observed in one patient with a congenital, autosomal recessive muscular dystrophy and in one out of five patients with polymyositis/dermatomyositis. The study emphasizes the need for, and value of, dystrophin assessment in every case of suspected BMD or DMD.