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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



  Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor

Diencephalic syndrome is a rare clinical entity, traditionally encompassing severe failure to thrive, nystagmus, and hyperkinesis, secondary to an intracranial neoplasm that is classically located in the hypothalamic region and its vicinity. However, the presenting features can be variable, often resulting in delayed diagnosis, which may worsen prognosis. In 2016 Nov 22, Melanie Conway and others publish an article in << Neurology >> which title is “Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor”,analyzed this disease. They report a 21-month-old girl with a cervicomedullary brainstem astrocytoma, who presented with isolated gross motor developmental delay, decreased growth velocity, and stridor. This case broadens the etiologic differential diagnosis of diencephalic syndrome in addition to the traditional hypothalamic region tumor location.

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