Complete heart block in nonfamilial hyperekplexia

McAbee, Gary N.; Kadakia, Satish; Sisley, Karen C.; Delfiner, Joel S.

doi:10.1016/0887-8994(94)00111-e

Cited by 17 publications

(9 citation statements)

References 11 publications

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“…31 The early manifestations include abnormal responses to unexpected auditory, visual, and somesthetic stimuli such as sustained tonic spasm, exaggerated startle response and fetal posture with flexion of forearm and legs, clenched fists, and anxious stare 3. The tonic spasms may mimic generalised tonic seizures, leading to apnoea and death 32. These spasms are not accompanied by epileptic discharges on electroencephalography (EEG) 33.…”

Section: Clinical Characteristicsmentioning

confidence: 99%

Hyperekplexia in neonates

Vijayakumar

Patole

Whitehall

2001

Postgraduate Medical Journal

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Section: Clinical Characteristicsmentioning

confidence: 99%

Hyperekplexia in neonates

Vijayakumar

Patole

Whitehall

2001

Postgraduate Medical Journal

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“…20 Hyperekplexia has also been reported associated with complete heart block. 21 The prognosis is one of slow improvement, with infants becoming less hypertonic. Although rare, it is important that those consulted about children with ® ts should be aware of the diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Hyperekplexia: a rare differential of neonatal fits described in a developing country

McMaster¹,

Cadzow²,

Vince³

et al. 1999

Annals of Tropical Paediatrics

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Hyperekplexia is a rare condition in which there is an exaggerated startle response. We report how a case presented in Papua New Guinea (PNG) and was diagnosed with international support. This is the first reported case in PNG. It is an important diagnosis to make to prevent sudden death and inappropriate treatment. The case illustrates the benefit of having a link with an international specialist and we discuss the importance of communication between developing and industrialized countries.

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“…Consciousness is unaltered during startle response. The tonic spasms mimic generalized tonic seizures leading to apnea and may lead to death [24]. Non-habituating exaggerated head-retraction reflex (HRR) elicited by tapping the tip of the nose, forehead (glabellar tap) or face [4,25,26], is considered by some as a clinical hallmark for diagnosis.…”

Section: Discussionmentioning

confidence: 99%

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

et al. 2012

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BackgroundHyperekplexia (HPX) is a rare non-epileptic disorder manifesting immediately after birth with exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, and non-habituating generalized flexor spasm in response to tapping of the nasal bridge (glabellar tap) which forms its clinical hallmark. The course of the disease is usually benign with spontaneous amelioration with age. The disorder results from aberrant glycinergic neurotransmission, and several mutations were reported in the genes encoding glycine receptor (GlyR) α1 and β subunits, glycine transporter GlyT2 as well as two other proteins involved in glycinergic neurotransmission gephyrin and collybistin.MethodsThe phenotype of six newborns, belonging to Saudi Arabian kindred with close consanguineous marriages, who presented with hyperekplexia associated with severe brain malformation, is described. DNA samples were available from two patients, and homozygosity scan to determine overlap with known hyperkplexia genes was performed.ResultsThe kindred consisted of two brothers married to their cousin sisters, each with three affected children who presented antenatally with excessive fetal movements. Postnatally, they were found to have microcephaly, severe hyperekplexia and gross brain malformation characterized by severe simplified gyral pattern and cerebellar underdevelopment. The EEG was normal and they responded to clonazepam. All of the six patients died within six weeks. Laboratory investigations, including metabolic screen, were unremarkable. None of the known hyperkplexia genes were present within the overlapping regions of homozygosity between the two patients for whom DNA samples were available.ConclusionsWe present these cases as a novel syndrome of lethal familial autosomal recessive hyperekplexia associated with microcephaly and severe brain malformation.

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Complete heart block in nonfamilial hyperekplexia

Cited by 17 publications

References 11 publications

Hyperekplexia in neonates

Hyperekplexia in neonates

Hyperekplexia: a rare differential of neonatal fits described in a developing country

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

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