Familial hyperekplexia: Lessons from the other face of the coin

Abstract

In this issue, we represent a case which may posse special interest to many neonatologists. Apparently healthy female neonate was born by spontaneous vaginal delivery as a sixth offspring to a third-degree consanguineous Egyptian parent. No significant neonatal problems occurred necessitate NICU admission. She had come to our outpatient neurology clinic at age 15th day with episodic transient generalized stiffness, hypertonia and tonic spasms. These episodes were existed from the first days of life as a result of sudden acoustic or tactile stimulation. Both general and neurological examinations were normal. Routine laboratory workup, electroencephalography (EEG) and MRI brain were normal. Father told us about her two brothers who aged 8 and 6 years old, both have had the same story and diagnosed faultily as epileptics. On next visit, we examined her brothers and found them suffering from repeated fallings, injuries and myoclonic jerks only as a reflex to unexpected various sensory stimuli. Although normal EEG and brain imaging, anti-epileptic combinations drugs, not included oral clonazepam, were prescribed to both without improvement. Good to mention that both of them were short and cognitively impaired. The case was one of neonatal conditions mimic epilepsy (CME) called (hereditary hyperekplexia). Recognition of hyperekplexia in the neonatal period is critical to avoid erroneous diagnoses like epilepsy. In conclusion: Neonatologists should be aware of CME in neonatal period. hyperekplexia teaches us simply three unique lessons in neonatology: First, not all CME are benign as known, hyperekplexia may be fatal. Second, some CME like hyperekplexia may be inherited. Lastly, some antiepileptic medications as clonazepam may be used in treatment of nonepileptic conditions like hyperekplexia.