Pediatric neurology
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Pediatric neurology · Sep 1997
Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease.
The classic form of Pelizaeus-Merzbacher disease is a rare X-linked dysmyelinating disorder of the central nervous system in which mutations of the proteolipid protein gene have been reported since 1989. However, mutations in the proteolipid protein gene have been identified in only 10 to 25% of all cases of Pelizaeus-Merzbacher disease, which suggests that other genetic aberrations may be present. ⋯ By using comparative multiplex polymerase chain reaction and restriction fragment length polymorphism analysis, we confirmed the proteolipid protein gene duplication as the cause of Pelizaeus-Merzbacher disease in 4 patients from 3 Chinese families with Pelizaeus-Merzbacher disease with no detectable exonic mutations. These results support the hypothesis that proteolipid protein gene duplication may be a major cause of Pelizaeus-Merzbacher disease in all ethnic groups and also suggest that the molecular diagnosis of Pelizaeus-Merzbacher disease should therefore include duplication analysis of proteolipid protein gene.
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Four patients with nemaline myopathy, 1 with the severe infantile form and 3 with the benign congenital (classical) form, exhibited significant respiratory problems. In the patient with the severe infantile form, respiratory failure paralleled the generalized muscle weakness, whereas the 3 patients with the benign infantile form suddenly developed respiratory failure while still ambulant. ⋯ A discrepancy between motor ability and respiratory involvement probably is not uncommon in patients with the moderate congenital form of nemaline myopathy. Clinicians must always be alert to respiratory failure when monitoring patients with nemaline myopathy.
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Pediatric neurology · Jan 1997
Case ReportsCase of intracranial vertebral artery dissection in young age.
Stroke in childhood is rare and has its own characteristic findings. Vertebrobasilar ischemia due to trauma in this age group has been described, but its specific features have not yet been clearly defined. Dissection of vertebral artery is one of the causes of vertebrobasilar ischemia that is very uncommonly detected in the intracranial portion of the posterior circulation in childhood. ⋯ Digital cerebral subtraction angiography revealed left vertebral artery dissection beginning at the V1 portion to the level of V4 and distal thrombosis of basilar artery. After 2 months, he was discharged from the hospital with minor neurologic deficit with anticoagulation therapy. Due to better outcome in childhood, early investigation for intracranial dissection should be included in the evaluation of posterior circulation infarcts in this age group.
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Pediatric neurology · Oct 1996
Review Case ReportsRhabdomyolysis and anesthesia: a report of two cases and review of the literature.
Rhabdomyolysis occurred in two apparently healthy boys aged 9.5 and 5.5 years after general anesthesia with suxamethonium. Mild hyperkalemia and renal failure were observed in the first patient, who was subsequently diagnosed with Becker dystrophy. In the second patient, the clinical presentation was not classic for malignant hyperthermia and a muscle biopsy failed to disclose any pathological finding. ⋯ Forty-nine (74%) cases were caused by an underlying, mostly unrecognized congenital muscle disease, and 14 (21%) cases were caused by malignant hyperthermia susceptibility. Hyperkalemia (23 patients), cardiac arrhythmias (38 patients), renal failure (4 patients), and death (11 patients) were the most serious complications of anesthesia-associated rhabdomyolysis. The neuromuscular blocking agent suxamethonium had been used in at least 43 of the patients reported in the literature.
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Chronic hiccups is a rare occurrence but can be debilitating for the patient. Successful intervention is seldom reported. ⋯ Within weeks of initiation of baclofen treatment, the hiccups ceased. Recurrences of hiccups have responded to increases in baclofen dosage.