A rare case of familial hyperekplexia

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.