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J Korean Pediatr Soc. 1978 Aug;21(8):623-629. Korean. Case Report.
Song YM , Lee KS , Shin JJ , Kang SC , Ji JK .
Department of Pediatrics, Seoul Red Cross Hospital, Korea.
Department of Pathology, College of Medicine, Seoul National University, Korea.

Acute Werdnig-Hoffmann disease is genetically determined progressive degenerative disease of anterior spinal neuron, characterized by fasciculations of the tongue usually occuring along with flaccid paralysis of extremities with intact mentality. We experienced a 5 months old female infant, whose sister died of pneumonia at the age of 2 months, had same symptoms and signs : revealing hypotonic state with flaccid extremities only responding to painful stimuli, and paradox-ical respiration. She was alert in mental state and showing typical tongue fasciculation even in quiet state. Muscle biopsy finding was compatible with acute werdnig-Hoffmann disease and serum enzymes were normal value.

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