All issues > Volume 18(12); 1975

Case Report

J Korean Pediatr Soc. 1975;18(12):963-971. Published online December 31, 1975.

A Case of Werdnig-Hoffmaiui Disease

J.K. Seo¹, S.H. Kim¹, and Y.J Kwon², S.O Kim², Y. I. Kim³

¹Department of Pediatrics, College of Medicine Seoul National University
²Department of Pediatrics, National Police Hospital
³Department of Pathology, College of Medicine, Seoul National University

Abstract

A 4 month old male infant with Werdnig Hoffmann disease was Presented. The infant was relatively healthy until 3 months of his age, when hypotonia, muscle weakness with flaccid paralysis were noted by his mother. Physical examination revealed hypotonia and weak crying with frog leg position. Fasciculations of tongue and high arched palate were found. Biopsy from right quadriceps muscle showed findings characteristic for Werdnig Hoffmann disease. This infant died at 5 months old of his age because of pneumonia.

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