Intractable Neonatal Hyperekplexia: A Case Report
Abstract:
Abnormal movements are not uncommon in neonates. These could be either seizures or seizure mimics. The neonatal physician has to recognize it as early as possible to initiate appropriate management. Hyperekplexia is one of the rare but treatable causes of seizure mimics in neonates. It is characterized by short and episodic periods of generalized tonic spasms in response to unexpected auditory, acoustic or any form of tactile stimuli. Hyperekplexia is diagnosed mainly by its classical clinical features. Nose tapping test is the bed side clinical method which can help the diagnosis of Hyperekplexia. At times they are at risk for sudden death due to life threatening apnea, sudden infant death syn drome, aspiration and cardiopulmonary arrest due to intractable tonic posturing during sleep. The tonic spasms of hyperekplexia can be ceased by Vigevano maneuver. It is done by the forced flexion of the head and legs towards the trunk during the episode of severe tonic spasms associated with respiratory impediment. This is a lifesaving manoeu vre which has to be taught to the care givers especially before discharge. We hereby present a case of intractable neo natal hyperekplexia with severe repeated tonic spasms and apnea, which was resistant to clonazepam treatment. Later on, tracheostomy was needed due to apnea and prolonged ventilation. The baby however died at the age of 14 months.
