Case reportMegalencephaly and Polymicrogyria with Polydactyly Syndrome
Introduction
Polymicrogyria is a malformation of cortical development characterized by multiple small gyri with derangement of the normal cortical lamination [1]. Several specific bilateral polymicrogyria syndromes have been recognized [2], [3], [4], [5], [6], [7], and polymicrogyria has also been described in several multiple congenital anomaly syndromes and chromosome aneuploidy syndromes [7], [8]. Recently, Mirzaa et al. [9] described five unrelated patients who presented with perisylvian polymicrogyria, megalencephaly, mental retardation, seizures, polydactyly and hydrocephalus and designated this the megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. Colombani et al. [10] reported another case, giving a total of just 6 reported cases prior to the present report. The etiology of MPPH syndrome remains unknown, and the genetic background of this syndrome is also unclear.
The present report describes the case of a Japanese patient with MPPH syndrome who exhibited severely impaired vision and asymmetric involvement on magnetic resonance imaging of the brain. The clinical manifestations noted in this patient and in previously described cases suggest that MPPH syndrome displays phenotypic and neuroradiological variations.
Section snippets
Case Report
A 26-month-old girl was the first daughter born to healthy, nonconsanguineous Japanese parents with unremarkable family history. At 30 weeks of gestation, ventricular dilatation of the brain was suspected from intrauterine ultrasonography. The child was delivered at 37 weeks of gestation by caesarean section. At birth, body weight was 3258 g, body length was 49 cm, and head circumference was 37.6 cm (+3.5 standard deviations). Macrocephalus and polydactyly of both lower extremities were evident
Discussion
The present report brings to six the number of cases of MPPH syndrome in the literature, after the original five cases described by Mirzaa et al. [9] and the additional case reported by Colombani et al. [10]. An association of macrocephaly and polymicrogyria has been described in several multiple congenital malformations, and three sporadic cases of megalencephaly-polymicrogyria-mega corpus callosum syndrome have been reported [11]. Mirzaa et al. [9] speculated that this malformation syndrome
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2011, Pediatric NeurologyCitation Excerpt :To date, all reported cases of this syndrome, including both of the children in this report, have had perisylvian polymicrogyria. All but 2 have had hydrocephalus [1-4,7], and at least 6 children, including one described here, have required shunt placements to treat the hydrocephalus. Aqueductal obstruction appears to contribute to hydrocephalus in this syndrome because the fourth ventricle has been normal or small in most cases [1], a feature illustrated in Figures 1b and 2b. Most children, including one in this report, have had postaxial polydactyly.
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