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2017 Case 8

Case 8

R.H. van Ommeren1:, H. Chitayat1,2, S Blaser3, A.K. Malinowski2, C. Hum2 P. Shannon1

1 Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto

2 Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto

3 Pediatric Neuroradiology, Hospital for Sick Children, Toronto, Ontario, Canada

Clinical Summary:

The mother was thirty-two years old, G1P0 with history of deep vein thrombosis and pulmonary embolus, without known risk factors. In this pregnancy fetal ultrasound at nineteen weeks gestation showed in utero growth restriction and a small pericardial effusion. Fetal echo demonstrated only a small ventricular septal defect. Array cytiogenetics was normal. In utero magnetic resonance imaging performed at thirty weeks gestation showed loss of right caudate head, cystic foci in the left frontal lobe and possibly in left temporal lobe and right cerebellar hemisphere. There were foci of hemorrhage present with diffusion restriction. The pregnancy was interrupted at 32 weeks gestation. The brain demonstrated multifocal hemorrhages of varying ages, polygyria over the orbitofrontal cortex, and widely distributed leptomeningeal glioneuronal heterotopias.

Materials submitted: H&E stained sections of an eye and an occipital lobe.

Questions:

Diagnosis?

How do the abnormalities relate to the clinical history?