Sharma S D, Sarna Anurag, Mukhopadhyay Sagori
Jhanwar Pediatric Gastroenterology Center (JPGEC), Department of Pediatrics, SPMCHI, SMS Medical College, Jaipur, India.
Indian Pediatr. 2006 Jun;43(6):539-41.
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.
新生儿惊跳症是一种罕见的常染色体显性遗传性惊吓障碍。出生后不久即出现症状,常被误诊为痉挛性四肢瘫、癫痫等。虽然长期预后相对良好,但偶有散发病例出现因严重痉挛导致猝死的情况。我们报告一例具有一些典型及非典型表现的惊跳症病例。