All issues > Volume 23(1); 1980

Case Report

J Korean Pediatr Soc. 1980;23(1):74-79. Published online January 15, 1980.

A Case of Kugelberg-Welander Disease.

H S Han¹, K Shim¹, Y S Kang¹, Y S Yoon¹, Y K Kim¹, J G Chi²

¹Department of pediatrics, Han-il Hospital, Korea.
²Department of pathology, college of medicine, Seoul, National University,Korea.

Abstract

A case of Kugelberg-Welander Disease, a rare neuromuscular disease in childhood, in a 28 month old Korean male is presented. This patient was fairly good until 24 months of age, when she was found to have waddling gait, weakness of both lower extremities along with tremor of hands. At the time of admission he showed obvious proximal muscle weakness, more proximal groups and showed Gower's sign. Deep tendon reflexes were abolished. Electromyogrtaphy showed patterns compatable with anterior horn cell disease. And Vastus muscle biopsy showed small round fibers without definite grouping. No degeneration or inflammation was present. Maternal cousin of this patient was known to have muscle disease probably related to this disease.

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