A case of Werdnig-Hoffman disease

ABSTRACT

This report describes a 6-month old female infant who presented with her second episode of pneumonia. Further assessment showed that she was markedly hypotonic. Her creatine kinase was normal. A muscle biopsy showed a neurogenic muscular atrophy. Werdnig-Hoffman disease was diagnosed. She recovered slowly over a 5 week period but died at home 2 days after discharge. Physicians looking after children must consider the possibility of an underlying neuromuscular condition when faced with a slowly resolving or recurrent pneumonia