A RARE CASE REPORT: NEONATAL HYPERKPLEXIA WITH FAILURE TO THRIVE WITH UMBILICAL HERNIA

J. K. Roshith and K. N. V. Prasad*

ABSTRACT

Background:- Hyperekplexia is an inherited autosomal dominant and a rare non-epileptic disorder which is characterized by an exaggerated and persistent startle reaction to the unexpected tactile and acoustic stimuli. The disorder is occasionally associated with generalized muscular rigidity and the clinical confirmatory test is by positive nose tapping test. Hyperekplexia is easily misdiagnosed as disorders such as spastic cerebral palsy and epilepsy. Clonazepam is of benefit, but it does not always stop the prolonged spasms. Forced flexion of baby’s head toward the trunk is the most effective treatment. We report a 8 months female infant who presented with excessive jerky movements of the and complaints of vomiting since 20 days of age. Mother complaining of her child having jerky movements were cured after the use of clonazepam completely.

Keywords: hyperekplexia, spasms, clonazepam.