A rare case of familial hyperekplexia
Journal Title: Indian Journal of Pharmaceutical and Biological Research - Year 2016, Vol 4, Issue 4
Abstract
Familial hyperekplexiaia a rare autosomal dominant or sporadic disorder characterized by abnormal startle reaction elicited by auditory or somatosensory stimuli. Here we report a 3 months old female child presented with complaints of exaggerated startle response followed by shrill cry to tactile stimuli over the face noticed by mother since birth. There was also a positive family history in her father and father’s brother. Neurological examination was normal except for hyperreflexia. Child was evaluated further and investigations like EEG and imaging were done. IEM workup was also done. Investigations were all normal. Hence from the classic diagnostic sign and positive family history, diagnosed as a case of familial hyperekplexia and the child improved after being started on clonazepam.
Authors and Affiliations
C. Rekha, L. R. Saranya| Assistant professor, Department of pediatrics ACS Medical College, Tamil Nadu, India, R. Karthik| Assistant professor, Department of pediatrics ACS Medical College, Tamil Nadu, India, Vimala Sarojini| Professor, Department of pediatrics, ACS Medical College, Tamil Nadu, India, R. Paramaguru| Assistant civil surgeon, Department of pediatrics, Thiruvallor government hospital, Chennai, India
Keywords
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