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An 8-month-old girl, born to consanguineous parents, presented with developmental delay, decreased muscle tone, disinterest in her surroundings, and sleepiness. Tests revealed a marked excretion of thymine with significantly increased uracil excretion in the urine, indicating a pyrimidine catabolic disorder, i.e., dihydropyrimidine dehydrogenase deficiency.(More)
Tremor is defined as a rhythmic, involuntary, oscillatory movement of body parts. Although constituting nearly 20% of presentations with paediatric movement disorders, tremor in childhood, beginning in the neonatal period, has rarely been described in the literature. Tremor may be an isolated finding or a part of associated neurological or systemic(More)
OBJECTIVE We describe a child with post-anoxic myoclonus of the reticular reflex type and discuss the classification of post-anoxic myoclonus. PATIENT DESCRIPTION A nine-year-old boy with severe hypoxic-ischemic encephalopathy due to submersion developed early epileptic spasms followed by stimulus sensitive multifocal generalized myoclonus and later(More)
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