Neonatal hyperekplexia: the Stiff-Baby syndrome

Autor: S D, Sharma, Anurag, Sarna, Sagori, Mukhopadhyay
Rok vydání: 2006
Předmět:
Zdroj: Indian pediatrics. 43(6)
ISSN: 0019-6061
Popis: Neonatal hyperekplexia is a rare autosomal dominant startle disorder. Presenting soon after birth, it is often mistakenly diagnosed as spastic quadriparesis, epilepsy etc. While the long-term prognosis is relatively benign, sudden death due to severe spasms have been seen in sporadic cases. We report a case of hyperekplexia with some typical and some unusual findings.
Databáze: OpenAIRE