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Hemimegalencephaly: clinical implications and surgical treatment

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Abstract

Introduction

Hemimegalencephaly (HME) is a quite rare malformation of the cortical development arising from an abnormal proliferation of anomalous neuronal and glial cells that generally leads to the hypertrophy of the whole affected cerebral hemisphere. The pathogenesis of such a complex malformation is still unknown even though several hypotheses are reported in literature.

Background

HME can occur alone or associated with neurocutaneous disorders, such as neurofibromatosis, epidermal nevus syndrome, Ito’s hypomelanosis, and Klippel–Trenonay–Weber syndrome. The clinical picture is usually dominated by a severe and drug-resistant epilepsy. Other common findings are represented by macrocrania, mean/severe mental retardation, unilateral motor deficit, and hemianopia. The EEG shows different abnormal patterns, mainly characterized by suppression burst and/or hemihypsarrhythmia. Although neuroimaging and histologic investigations often show typical findings (enlarged hemisphere, malformed ventricular system, alteration of the normal gyration), the differential diagnosis with other disorders of the neuronal and glial proliferation may be difficult to obtain. Hemispherectomy/hemispherotomy is the most effective treatment to control seizure, and it also seems to provide good results on the psychomotor development when performed early, as demonstrated by the literature review and by the reported personal series reported here (20 children). The surgical therapy of HME, however, is still burdened by a quite high complication rate and mortality risk.

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Di Rocco, C., Battaglia, D., Pietrini, D. et al. Hemimegalencephaly: clinical implications and surgical treatment. Childs Nerv Syst 22, 852–866 (2006). https://doi.org/10.1007/s00381-006-0149-9

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