Neonatal hyperekplexia: the Stiff-Baby syndrome.
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.
Sharma
S D
SD
Jhanwar Pediatric Gastroenterology Center (JPGEC), Department of Pediatrics, SPMCHI, SMS Medical College, Jaipur, India. sdsharmajp@yahoo.co.in
Sarna
Anurag
A
Mukhopadhyay
Sagori
S
D005260:Female; D006801:Humans; D007223:Infant; D009122:Muscle Hypertonia / Q000175:diagnosis / Q000503:physiopathology; D011379:Prognosis; D012021:Reflex, Abnormal; D013216:Reflex, Startle / Q000502:physiology; D016750:Stiff-Person Syndrome / Q000175:diagnosis* / Q000503:physiopathology