A case of tuberous sclerosis complex associated with hemimegalencephaly in an infant of 32 weeks gestational age

• Published in: Folia neuropathologica Vol. 52; no. 4; p. 479
• Main Authors: Taraszewska, Anna, Witwicki, Jacek M, Laure-Kamionowska, Milena, Grajkowska, Wiestawa, Szopinski, Ryszard
• Format: Journal Article
• Language: English
• Published: 01.01.2014
• ISSN: 1641-4640; 1509-572X

Hemimegalencephaly (HME) and tuberous sclerosis complex (TSC) are distinct and unrelated conditions that both are characterized by an early abnormality in cortical development, responsible for the intractable epilepsy. The association of hemimegalencephaly and TSC is extremely rare, with only a few cases published in the literature so far. This report presents a case of a preterm male infant born at 32 week of gestational age by emergency cesarean section because of intrauterine asphyxia danger. Examination by ultrasonography disclosed cardiomegaly, multiple cardiac tumors corresponding to rhabdomyoma, cysts in the kidneys and the brain abnormality exhibiting marked enlargement and pachygyria of the left hemisphere. The baby died in the second day of age. Postmortem gross examination of the brain showed left hemimegalencephaly with features of pachygyria and agyria, hardened centrum semiovale and dilated left lateral ventricle, whereas contralateral hemisphere, brain stem and cerebellum appeared unaffected. By microscopic study of the brain the lesions were characteristic for TSC and consisted of cortical and subcortical tubers and subependymal nodules in both hemispheres and subependymal giant cell astrocytoma in the left hemisphere. The changes in the left hemimegalencephalic hemisphere were more extensive, with massive aggregates of gemistocyte-like balloon cell, extending from the cortical surface into the subcortical white matter and the subventricular germinal matrix. Some of the alterations and cellular abnormalities in hemimegalencephalic hemisphere had common characteristics for both TSC and HME and were difficult to separate between them and to consider, whether they represent two separate malformations or one process connected with the early development of TSC with extraordinarily extensive cerebral lesions.