PMID: 7546013May 1, 1995Paper

Spinal muscular atrophy with oculomotor palsy, epilepsy, and cerebellar hypoperfusion

Pediatric Neurology
A OkaM Yanaginasawa

Abstract

We report a boy with spinal muscular atrophy (SMA) type 1, who developed novel clinical and neuroradiologic features, indicating the broad spectrum of this degenerative disease. Widespread lesions in the central nervous system were disclosed by magnetic resonance imaging and single photon emission computed tomography (SPECT) studies. In particular, scattered regions of hypoperfusion demonstrated by SPECT suggested multisystem involvement including the cerebellum. The novel features of this patient were complex partial seizures and oculomotor palsy.

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Citations

Aug 14, 2010·Human Molecular Genetics·Thomas M WishartThomas H Gillingwater
Jun 29, 2011·Disease Models & Mechanisms·James N SleighKevin Talbot
Jan 12, 2002·Journal of Child Neurology·R FalsaperlaA M Connolly

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