Case Report
Infantile Epileptic Encephalopathy (Ohtahara Syndrome) and Migrational Disorder

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Abstract

A case of early infantile epileptic encephalopathy (EIEE) with suppression-bursts (Ohtahara syndrome) associated with a diffuse cerebral migrational and maturation disorder evident on microscopic examination is reported. Although virtually all reported cases of EIEE are secondary to a congenital or acquired structural malformation of cortical development, EIEE is sometimes identified only by detailed neuropathologic examination, as confirmed by this case report. In addition to the malformation of cortical development, the patient demonstrated an absence of gamma-aminobutyric acid in the cerebrospinal fluid. All children with EIEE should be thoroughly examined by magnetic resonance imaging, cerebrospinal fluid amino acid level determination, and detailed postmortem neuropathologic examination.

Introduction

Early infantile epileptic encephalopathy (EIEE), also referred to as Ohtahara syndrome, defined by its clinical and electroencephalographic features, is considered to be an age-specific epileptic response of the developing nervous system to varied insults 1, 2, 3, 4. EIEE is heterogeneous and has multiple presumed etiologies, although it is considered to be predominantly secondary to structural lesions of the cerebral cortex 2, 3, 5. To contribute to our understanding of this severe neonatal epileptic encephalopathy, we report a case associated with a diffuse cerebral migration and maturation disorder evident only on postmortem microscopic examination.

Section snippets

Case Report

The patient, the only child of her parents, was conceived through the use of in vitro fertilization without the use of anonymous egg and sperm donors. There is no family history of seizure disorder. Delivery was at 37 weeks gestation via vaginal vertex with midforceps assistance because of transverse arrest. Apgar scores were 9 at 1 minute and 10 at 5 minutes, and the birth weight was 3,360 gm. She experienced her first seizure toward the end of the first day of age, and it was characterized by

Pathology

On general postmortem examination, there were findings of diffuse pulmonary changes of chronic aspiration, as well as active moderate reflux esophagitis. Examination of the central nervous system revealed a small brain weighing 933 gm (100 gm less than the normal weight for this age). Macroscopically, no abnormalities were noted except for minor variations of the normal appearing gyral patterns in both hemispheres, particularly on the temporal lobes where the left superior and middle gyri

Discussion

The diagnosis of EIEE in our patient was based on the early onset and high frequency of the child’s seizures during the neonatal period, the lack of response to medication, the evolution of EEG findings from initial suppression-burst during waking and sleep states, severe global developmental delay, and the predominant tonic nature of the child’s seizures 2, 3. Although the child had occasional myoclonic seizures, EIEE was distinguished from early myoclonic epilepsy by the typical

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    Cases related to genetic mutations and metabolic abnormalities have also been described, although at least some of these cases also exhibited associated structural malformations. Even in some cases when no structural lesion was evident on cranial imaging, postmortem examinations demonstrated evidence of a migration disorder or dysgenesis that was not previously appreciated on neuroimaging [3,16]. A variety of structural malformations have been associated with Ohtahara syndrome, including hemimegalencephaly [11,17], agenesis of the corpus callosum [3,8], porencephaly [8], agenesis of the mamillary bodies [18], and dentato-olivary dysplasia [17].

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    Detectable brain lesions usually allow gross distinction between Ohtahara syndrome and EME (as the latter entity usually yields normal brain studies). The most common structural abnormalities thus far recorded include cerebral asymmetry, megalencephaly, hemimegalencephaly, pachigyria, agyria, polymicrogyria, focal cortical dysplasia, dentate-olivary dysplasia, dysgeneses of the collicoli, and posterior fossa anomalies [46–57]. A more common brain abnormality, however, is hypodysmyelination and diffuse to localized cortical atrophy (Fig. 2).

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