We report an unusual case of hemimegalencephaly (HMG) associated with ipsilateral congenital-infiltrating lipomatosis of the face in a five-month-old boy. Hemimegalencephaly is a rare but unique malformation characterized by enlargement of all or parts of a cerebral hemisphere. The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria...

Mutations in DYNC1H1, the gene encoding the largest cytoplasmic dynein, have been associated with a wide spectrum of neurodegenerative disorders. In this study, we describe a child in whom a novel de novo likely pathogenic variant in the motor domain of DYCN1H1 was identified through whole exome sequencing. The affected child presented with severe neurological symptoms and more extensive cortic...

Children with special health care needs receive less oral care than the normal population, inspite of the high level of dental diseases among them. They are at an increased risk for oral diseases throughout their lifetime. This paper reports a case of a toddler with congenital unusual thick convolutions of the cortex resulting in a condition called pachygyria. Intra oral examination showed mult...

Cerebral malformations in conjunction with congenital muscular dystrophy are unusual. Three such combinations have been described, including Walker-Warburg syndrome [1, 2]; muscle, eye, and brain disease [3]; and Fukuyama-type congenital muscular dystrophy (FCMD) [4] . FCMD occurs with particularly high frequency in Japan, where it is the second most prevalent form of progressive muscular dystr...

INTRODUCTION X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT Second child born to he...

The lissencephalies are a group of disorders characterized by the paucity of gyral and sulcal formation known as agyria and pachygyria resulting from abnormal neuronal migration between about 8 to 14 weeks’ gestation. We report an antenatally diagnosed unique case of lissencephaly with severe cerebellar hypoplasia and bilateral complete cleft lip and palate. Although lissencephaly syndromes can...

fryns-aftimos syndrome is a rare autosomal dominant disorder characterized by craniofacial signs, anterior neuronal migration disorder (pachygyria, lissencephaly), skeletal deformities and mental retardation. we describe a five-year-old boy with abnormal facial features (hypertelorism, ptosis, high arched palate), skeletal problems (short stature, short fingers, flat feet) and mild intellectual...

Malformations of cortical development are frequently identified in surgical resections for intractable epilepsy. Among the more frequently identified are cortical dysplasia, pachygyria, and polymicrogyria. The pathogenesis of these common developmental anomalies remains uncertain. Polymicrogyria is particularly vexing because there are multiple described forms (2, 4, and 6 layers) that have bee...