Fetal Neuropathology of Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly with Multiple Limb Pterygia

Abstract

We describe the third family in which fetuses have very narrow cerebral cortical mantles, enlarged ventricles, a peculiar proliferation of cerebral cortical arteries, and hypoplasia of muscle. We describe the youngest fetus yet reported. Previously this condition was interpreted as destructive, perhaps due to infection. We believe it is a primary failure of neuroectodermal cells to form in the ventricular zone with too few resulting cells in cerebral cortex and that the abnormal vascular proliferation is part of the malformation. The involvement of both sexes suggests autosomal recessive inheritance.

Pena‐Shokeir phenotype (Fetal akinesia deformation sequence) revisited

“…Cleft palate and pterygia of large joints were observed at termination. Norman and McGillivray (1988) reported a similar single case.…”

First‐trimester features of Fowler syndrome (hydrocephaly–hydranencephaly proliferative vasculopathy)

“…In 1988, Norman and McGillivray reported two new cases in the third family so far described, where the most obvious signs were hydrocephaly, polyhydramnios, and multiple pterygia of the limbs 3 . Moreover, these authors regarded the case reported by Mbakop et al 4 in 1986 as another case of PVHH syndrome.…”

“…Norman and McGillivray suggested that disorders of neuronal migration could be involved as seen in Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy 3 . Harding et al suggested that the abnormal proliferative vasculopathy in the nervous tissue might play the main part in the pathogenesis observed as early as in the first trimester 5 .…”

“…Nevertheless no specific genetic locus has been identified. As PVHH and cerebro-ocular dysplasias (Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy) demonstrate numerous clinical and histological similarities, Norman and McGillivray suggested these conditions share the same genetic locus 3 . This hypothesis has so far never been confirmed.…”

“…This condition is also known as 'proliferative vasculopathy and hydranencephaly−hydrocephaly' (PVHH) [2][3][4][5] and as 'encephalic proliferative vasculopathy' 6,7 . We report a case of Fowler syndrome, which, to our knowledge, is the first case detected prenatally by ultrasound scan in a first-trimester live fetus.…”