EPID-03MENINGIOANGIOMATOSIS ASSOCIATED WITH MICROCEPHALY AND DEVELOPMENTAL DELAY IN A PEDIATRIC PATIENT

Abstract

BACKGROUND: Meningioangiomatosis is a rare benign lesion of the central nervous system characterized by focal leptomeningeal and meningovascular proliferation most commonly in the frontal and temporal cerebral cortex. Typically meningioangiomatosis presents with seizures and much less commonly headache, visual disturbance, limb weakness and personality change. Genetic mutations in Microcephalin1 (MCPH1) and ASPM (abnormal spindle like microcephaly) cause primary microcephaly and their role in carcinogenesis is being elucidated. CASE REPORT: A boy with global developmental delay due to microcephaly of undetermined etiology and vesicoureteral reflux presented with a new onset generalized tonic clonic seizure. He had a family history of developmental delay in male relatives (maternal uncle and brother) and a family history (maternal) of malignancy in female relatives (breast, mesothelioma, ovarian and uterine cancer). He had large low set ears, prominent jaw and normal testicles. MRI demonstrated a minimally enhancing vascular 1.9 x 1.9 x 1.5 cm lesion in the mesial right inferior frontal lobe predominantly in the superficial cortical gray matter. The lesion had a low intensity T2 signal and dense calcification along the periphery and a central zone of linear vascular enhancement. There was no associated vasogenic edema or any other abnormal MRI findings. The lesion was totally resected under image guidance. Histopathological examination showed meningoendothelial proliferation without atypical features. Intervening neurons immunoreactive with synaptophysin, GFAP and NeuN were seen. The final diagnosis was frontal lobe meningioangiomatosis. Fragile X syndrome testing was negative (FMR gene CGG repeat number: 32) and chromosomal microarray analysis was normal. Follow up MRIs have not demonstrated recurrence of the meningioangiomatosis and he has been seizure free on Levetiracetam/Topiramate therapy. CONCLUSION: We speculate that there is a genetic basis to the microcephaly and meningioangiomatosis in our patient perhaps involving genes in the X chromosome, MPCH1 or ASPM genes. Further testing is warranted.