All issues > Volume 28(8); 1985

Case Report

J Korean Pediatr Soc. 1985;28(8):823-828. Published online August 31, 1985.

Acute Werdnig-Hoffmann Diseases in Siblings.

Y D Lee, Y W Lee, J H Lee, Y H Chung

¹Department of Pediatrics, Chungnam National University, College of Medicine

Abstract

Acute Werdnig-Hoffmann diseases being the most common cause of floppy infant, in two male siblings were presented. The patients appeared characteristic clinical findings suggestive of spinal atrophy at 4 weeks and 2 months and all died about 8 months old. Previous expired another elder-brother was also related to this disease. Diagnosis was estabilished by clinical & pathologic findings. This is the autosomal dominant trait case of acute Werdnig-Hoffmann disease.

Keywords :Werdnig Hoffmann disease; Muscle biopsy