A 38-year-old woman had complex, congenital heart anomalies, including double-outlet right ventricle with mitral atresia, severe left ventricle hypoplasia, atrial septal defect, and severe pulmonary stenosis, for which she had not received appropriate treatment. She presented to our institution with an intense sudden-onset headache that had initiated while sleeping. Brain computed tomography in...

BACKGROUND Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. The goals of this work are to describe a novel autosomal-recessive syndrome that includes hydranencephaly (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly (MARCH)); to identify its genetic cause(s) and to provide functio...

Joubert syndrome is a relatively rare autosomal recessive congenital disorder; it is characterized by cerebellar vermis hypoplasia or aplasia. Characteristic clinical symptoms and signs include motor and respiratory abnormalities. It is currently included in the malformation spectrum of cerebello-oculo-renal syndromes (CORS). An image known as a "molar tooth sign" is typically observed in cereb...

Septo-optic dysplasia is an uncommon diagnosis comprised in part of a unique composition of congenitalmalformations of the central nervous system. It is defined by three principle findings: optic nerve hypoplasia, absence of the septum pellucidum, and clinical pituitary dysfunction. The syndrome may be associated with various cerebral defects including ectopic posterior pituitary, dysgenesis of...

Figure 1. Radiograph of N.D. preoperatively, demonstrating thumb hypoplasia and an unstable carpometacarpal joint. Figure 2. Schematic of the hand with hypoplastic thumb to be amputated (dashed lines).

Glenoid hypoplasia, also known as glenoid dysplasia and dysplasia of the scapular neck, is a failure of ossification of the posteroinferior two-thirds of the glenoid. Once thought to be a rare condition, more recent studies have shown that the incidence of glenoid hypoplasia ranges from 18% to 35%. This case report and literature review highlights the typical clinical presentation, the radiolog...

Our previous studies revealed abnormalities on structural MRI (sMRI) in small groups of children exposed to alcohol prenatally. Microcephaly, disproportionately reduced basal ganglia volume, and abnormalities of the cerebellar vermis and corpus callosum were demonstrated. The present study used sMRI to examine in detail the regional pattern of brain hypoplasia resulting from prenatal exposure t...

− Classification is a creative activity that helps us understand relationships. The traditional classifications of central nervous system malformations was based exclusively upon descriptive morphology, but these criteria must now be integrated with molecular genetic data to enable an etiological classification that also remains useful to the clinician, radiologist and pathologist, who rely upo...

Molybdenum cofactor deficiency predominantly affects the central nervous system. There are limited data on long-term outcome or brain magnetic resonance imaging (MRI) features. We examined the clinical, brain MRI, biochemical, genetic, and electroencephalographic features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency observed in our institution over 10 years. Two ...

BACKGROUND Ehlers-Danlos syndrome (EDS) is a heterogeneous group of generalized connective tissue disorders that has been described in association with epilepsy and cerebral cortical dysplasia, mostly gray matter heterotopias, in 3 reports. However, to our knowledge, association of EDS with another type of cortical cerebral dysplasia, bilateral focal polymicrogyria, has never previously been de...