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In congenital Zika virus syndrome (CZS), the most frequent radiological findings are calcifications in the cortical-white matter junction and malformations of cortical development (pachygyria or polymicrogyria, which occur predominantly in the frontal lobes, or a simplified gyral pattern), ventriculomegaly, enlargement of the cisterna magna and the extra-axial subarachnoid space, corpus callosum abnormalities, and reduced brain volume. This syndrome can also result in a decrease in the brainstem and cerebellum volumes and delayed myelination. Infants with CZS may show venous thrombosis and lenticulostriate vasculopathies. Over a 3-year follow-up period, many infants with CZS showed hydrocephalus, reduction in brain calcifications, and greater reduction in brain thickness.

Congenital microcephaly with simplified gyral pattern has been well documented in the literature. It is characterized by a head circumference of less than two standard deviations for age associated with abnormal sulcation. In its mild presentation, this entity is usually described as an isolated anomaly. It presumably results from a brain insult associated with hypoxic–ischemic damage, intracranial infection, or metabolic disease. Rhombencephalosynapsis is a rare condition usually consisting of vermian agenesis or severe hypogenesis, fusion of the cerebellar hemispheres, and apposition or fusion of the dentate nuclei. There are several recent studies focusing on each one of those entities individually, but they do not show any correlation/association between the two of them. This is a case report of an 8-year-old child with neurodevelopmental delay who had episodes of seizures up to 3 years of age. An MRI scan showed marked craniofacial disproportion with dominance of the face over the skull, simplified gyral pattern associated with hypogenesis of the cerebellar vermis, and communication of the folia in the posterior segments of the cerebellar hemispheres. In this case report, we will briefly discuss cerebellar embryology and the process of cortical differentiation, as well as possible associations between rhombencephalosynapsis and other brain abnormalities.

Microcephaly with simplified gyration, epilepsy and permanent neonatal diabetes syndrome (MEDS) is a recently described, autosomal recessive-inherited syndrome. We report the case of an infant presenting with lethargy at age five weeks and clinical findings of persistent hyperglycaemia and microcephaly with simplified gyration, suggestive of MEDS. The diagnosis was confirmed by the detection of a known c.233 T > C mutation in the IER3IP1 gene. Only eight cases of MEDS have been reported in the literature. We reviewed these with the aim of better delineating their clinical manifestations, which should allow earlier and more accurate diagnosis and genetic counseling.

We report on two male sib fetuses with humero-radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short corpus callosum and ambiguous genitalia. The main clinical, anatomopathological and imaging findings are presented and compared with previous cases of humero-radial synostosis as a prominent manifestation and with the X-linked lissencephaly with ambiguous genitalia syndrome (X-LAG). To our knowledge, this combination of anomalies has never been described before, and we propose that this disorder comprises a new humero-radial synostosis syndrome with an autosomal recessive or X-linked pattern of inheritance.

We report on four patients from the same family affected by a lethal form of autosomal recessive microcephaly of prenatal onset. Symptoms include low birth-weight and length with disproportionately small head, fetal distress, apnea, seizures and facial features reminiscent of Amish microcephaly and Bowen-Conradi syndrome. Brain imaging revealed a simplified gyral pattern with normal to slightly thinned cortical gray matter, thin corpus callosum, mild brainstem and cerebellar hypoplasia. No abnormalities of the internal organs, eye, or skeleton, and no striking dysmorphic facial features were found to be associated with this syndrome. All patients died within hours to weeks after birth following severe apnea attacks and central hypoventilation. Recessive primary microcephaly with lethality in early infancy is rarely reported. The patients described here do not resemble any other published cases of such clinical severity and the locus for the only reported early lethal microcephaly gene found in Amish families was excluded. Therefore, this appears to be a distinct genetic cause of lethal microcephaly.

We describe two Finnish brothers with frontotemporal pachygyria, intellectual deficiency and mild dysmorphisms. Previously, only a few cases of similar frontotemporal pachygyria have been reported. This report provides further evidence about frontotemporal pachygyria being a distinct genetic entity inherited as an autosomal recessive trait.

AYGUN, CANAN/0000-0002-7955-5943 WOS: 000304133700022 PubMed: 22529034 We report on a patient with Sedaghatian type spondylometaphyseal dysplasia (SSMD) who presented with metaphyseal dysplasia, congenital atrioventricular block, simplified gyral pattern, hypogenesis of corpus callosum, and severe cerebellar hypoplasia. We want to emphasize that in this rare congenital lethal skeletal dysplasia with unknown etiology, central nervous system malformations might be a major component of the disorder and should be evaluated in detail to possibly uncover the underlying pathophysiology. (c) 2012 Wiley Periodicals, Inc.

We report a patient with mild pachygyria, ascertained during a screening of subjects with abnormal neuronal migration and/or epilepsy, having a 7q11.23 duplication reciprocal to the Williams-Beuren critical region (WBCR) deletion. He exhibited speech delay and mental retardation together to type II trigonocephaly and other abnormalities. The proband's mother carried the same imbalance, though her phenotype was milder and no abnormal conformation of the cranium was reported. She had suffered a few seizures in infancy, as already described in other duplicated subjects. This genomic imbalance, now described in 17 subjects, including one parent for each of the four probands, is associated with a variable phenotype. Speech impairment is present in most cases; no distinctive facial gestalt is recognizable; seizures have been reported in four subjects and brain magnetic resonance, performed in eight cases, resulted abnormal in six, while detected abnormal neuronal migration in two. Although the clinical description of additional cases is needed to delineate a definite phenotypic core for WBCR duplications, trigonocephaly, also reported in another dup(7)(q11.23) patient, is possibly a trait that, together with speech impairment, may call for clinically oriented specific screening. Abnormal development of the cerebral cortex, reported also in the Williams-Beuren deletion, suggests that at least one gene is present in the critical region whose deletion/duplication impairs neuronal migration.

We report a 19-month-old boy with microcephaly, growth and developmental delay, facial dysmorphisms, and simplified gyral pattern. Magnetic resonance imaging (MRI) examination demonstrated microcephaly with simplified gyral pattern or oligogyric microcephaly. The facial phenotype was interpreted as suggestive of Williams syndrome (WS). Fluorescence in situ hybridization (FISH) analysis performed with an elastin probe revealed a deletion in the chromosomal band 7q 11.23, confirming the clinical diagnosis. To our knowledge, this represents the first patient with WS and oligogyric microcephaly.

ultrasound and MRI defined further enlargment of ventricular width (14 mm) and the absence of parieto-occipital fissure, calcarine fissure and cingulate sulcus. The couple after extensive counseling opted for continuing pregnancy. At the moment the pregnancy is ongoing. Unilateral borderline ventriculomegaly, as an isolated finding, is a common sign during ultrasound scan in midgestation, and reports describe it is as minimally effective on developmental outcome. The control of malformations of cortical development with different sulcal and gyral patterns may be associated with specific diagnoses, and provide accurate parental counseling.