All issues > Volume 28(1); 1985

Case Report

J Korean Pediatr Soc. 1985;28(1):103-106. Published online January 31, 1985.

A Case of Werdnig Hoffmann Disease.

Woo Jung Kim, Dong Ku Lee, Kyung Tai Whang

¹Dept, of Pediatrics,Catholic Medical College,Seoul, Korea

Abstract

We experienced a case of Werdnig Hoffmann disease in a 3 months old male infant who was hospitalized for work-up of delayed development. He was noted to be “floppy” by the parents since age 1 month and the state began steady to decline progressively. Neurologic examination revealed the baby was markedly hypotonic and could not hold head up on, however, the patient seemed normal in regard to social parameters and had brightly alert facies. Also, bulbar weakness appeared to be present, with difficult in sucking and swallowing. There were no reflexes elicited. The baby, at rest, was noted to have fasciculating tongue movements. Needle EMG revealed numerous fibrillation and positive sharp waves in long duration motor unit potential. The findings were indicative of denervation and the normal nerve conduction velocities ruled out peripheral neuropathy. Muscle biopsy findings were compatible with Werdnig Hoffmann disease showing denervation atrophy.

Keywords :Anterior horn cell disease