No to hattatsu. Brain and development
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We described a child who developed paroxysmal abnormal eye movement. At the age of 12 months, she had a high fever and a febrile seizure. On the next day she showed tonic upward deviation of the eyes for 1 to 2 seconds, and downward saccades on attempted downward gaze. ⋯ At the beginning of her walking she showed truncal ataxia, but it gradually disappeared and her development was normal at the age of 2 years and 6 months. These abnormal eye movements and another symptoms were similar to paroxysmal tonic upgaze of childhood (PTU) that has been first described by Ouvrier and Billson (1988) as intermittent upward deviations of eyes. In Japan there was only one report of this syndrome with periventricular leukomalacia and hypomyelination.
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A 14-year-old girl was diagnosed as having herpes simplex encephalitis by a polymerase chain reaction examination of the cerebrospinal fluid. MRI showed diffuse high signal areas at the bilateral temporal lobes and right frontal lobe. She was treated with a total of 350 mg/kg of acyclovir for 23 days, and discharged without abnormal neurological findings. ⋯ She excessively seeked relations with several boy friends. MRI revealed dilation of the bilateral ventricles and atrophy of the temporal lobes. These pathologic changes including the atrophy of hippocampus may be responsible for the character changes in this case.
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We report a 14-year-old girl with carbamazepine intoxication who developed alpha coma and status epilepticus. She fell into deep coma and developed frequent generalized convulsions. The EEG during coma showed diffuse alpha activity predominantly in the frontal area. ⋯ Although half a day had passed since carbamazepine ingestion, we could wash out much of drug remnants by gastric lavage. Thereafter, the serum concentration of carbamazepine decreased efficiently and the patient recovered dramatically without complication. Early diagnosis and appropriate treatments should improve the prognosis of carbamazepine intoxication.
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Duchenne/Becker muscular dystrophy (DMD/BMD) are the most common inherited muscular diseases caused by mutations in the dystrophin gene. The identification of novel dystrophins in the brain has recently implicated its absence or malfunction etiologically in mental retardation (MR). We therefore examined the relationship between molecular abnormalities and clinical phenotypes. ⋯ However, there was an exception in our series. Three of eight sibling pairs in our cases had different phenotypes, although they had the same mutations in the dystrophin gene. Thus the CNS phenotypes were not determined by the mutations of dystrophin gene alone, and the interaction of dystrophin with other nuclear genes may play important roles.
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Proton magnetic resonance spectroscopy (MRS) can noninvasively detect brain metabolites in vivo. A girl with the neonatal type of nonketotic hyperglycinemia was studied by MRS using a long-echo-time point-resolved technique. ⋯ Subsequent measurements (3 months to 2 years of age) showed a time course of glycine/creatine ratio similar to the changes of the glycine levels in the blood and cerebrospinal fluid. Our findings suggest that MRS is a noninvasive diagnostic tool useful in monitoring the brain glycine level directly in patients with nonketotic hyperglycinemia.