Abstract
Hemiconvulsion–hemiplegia–epilepsy syndrome (HHE) is a rare outcome of prolonged hemiconvulsion that is followed by diffuse unilateral hemispheric edema, hemiplegia, and ultimately hemiatrophy of the affected hemisphere and epilepsy. Here, we describe the case of a 3-year-old male with a 1;3 translocation leading to a terminal 1q43q44 deletion and a terminal 3p26.1p26.3 duplication that developed HHE after a prolonged febrile seizure and discuss the pathogenesis of HHE in the context of the patient’s complex genetic background.
Highlights
Specialty section: This article was submitted to Neuropediatrics, a section of the journal Frontiers in Neurology
Hemiconvulsion–hemiplegia–epilepsy syndrome is a rare outcome of prolonged focal status epilepticus that typically occurs in children under 4 years of age, in the context of febrile illness
A 2012 review of all published cases by Auvin and colleagues [3] reveal that approximately 30% of cases have precipitating factors, while the rest are idiopathic in nature
Summary
The patient is a 3-year-old male who was found in bed experiencing a tonic–clonic seizure with left eye deviation. The patient was assumed to have Todd’s paralysis, but when he failed to return to baseline, an MRI was performed on day 2 that showed thinned and truncated corpus collosum, diffusely increased T2/FLAIR signal intensity throughout the cortices of the left hemispheric gray matter with associated restriction diffusion, left hemispheric edema, 6.8 mm midline shift, effacement of the left ventricle, and dilation of the right ventricle. He was transferred to our tertiary hospital for neurosurgical management. Laboratory testing on this day revealed decreased total and free carnitine levels (14 and 16 nmol/mL, respectively); TABLE 1 | Deleted and duplicated OMIM genes resulting from an unbalanced t(1;3)(q43;p26.1)
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