| A Case of Werdnig Hoffmann Disease. |
|
Woo Jung Kim, Dong Ku Lee, Kyung Tai Whang |
|
Dept, of Pediatrics,Catholic Medical College,Seoul, Korea |
| Werdnig Hoffmann 병의 1례 |
|
김우정, 이동구, 황경태 |
|
가틀릭의과대학 소아과학교실 |
|
|
|
|
| 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.
|
| Key Words:
Anterior horn cell disease |
|
PDF Links
Download Citation
