Neonatal hyperekplexia: the Stiff-Baby syndrome
Autor: | S D, Sharma, Anurag, Sarna, Sagori, Mukhopadhyay |
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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 |
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