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Facial hemangioma is usually isolated but its association with craniocervical arterial anomalies and structural brain malformations is well known. The acronym PHACE syndrome (posterior fossa malformation, facial hemangiomas, arterial anomalies, cardiac/aortic anomalies, and eye abnormalities) has been used to indicate that disorder in which brain anomalies are mainly represented by the Dandy-Walker malformation. We report on a 10-month-old boy affected by facial hemangioma and a complex cortical dysplasia located in the left frontal region. The lesion was characterized by a deeply infolding pachygyric cortex and a band of gray matter lining the wall of the lateral ventricle. The entire left cerebral hemisphere appeared hypoplastic. No anomalies of the posterior fossa structures or cardiac/aortic malformations were present. An overlapping clinical/pathological pattern was previously reported in another patient with facial hemangioma and cerebrovascular anomalies. These observations seem to indicate that the facial hemangiomas may be associated with disorders of the cortical development.

Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder, potentially leading to lethal hyperammonemia. Based on the age of onset, there are two distinct phenotypes: neonatal and late form. The CPS1 enzyme, located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa, is encoded by the CPS1 gene. At present more than 220 clear-cut genetic lesions leading to CPS1D have been reported. As most of them are private mutations diagnosis is complicated. Here we report an overview of the main clinical findings and biochemical and molecular data of 13 CPS1D Italian patients. In two of them, one with the neonatal form and one with the late form, cadaveric auxiliary liver transplant was performed. Mutation analysis in these patients identified 17 genetic lesions, 9 of which were new confirming their "private" nature. Seven of the newly identified mutations were missense/nonsense changes. In order to study their protein level effects, we performed an in silico analysis whose results indicate that the amino acid substitutions occur at evolutionary conserved positions and affect residues necessary for enzyme stability or function.

Objective: Our purpose was to evaluate the outcome of a group of fetuses with mild ventriculomegaly. Methods: We retrospectively collected all cases of antenatally diagnosed mild enlargement of the lateral cerebral ventricles (tranverse diameter of the atrium between 10 and 15 mm) between 1992 and 1997. Cases were included in the study if no other ultrasonic anomalies (including soft markers) were found. TORCH screening, karyotyping, search for associated anomalies and neurological examination (including imaging) were performed. Outcome information was available for all cases up to 30 months. Results: Fourteen cases were examined. TORCH was always negative, 1 case with a microdeletion of chromosome 1 was identified. During the course of pregnancy, 2 fetuses showed progression to frank hydrocephalus. Five cases of agenesis of the corpus callosum, 1 of lissencephaly and 1 of heterotopia were eventually diagnosed. After birth 2 syndromes were identified. Three babies died during the follow-up period, among the survivors 4 had severe neurological damage, 2 of them had no associated dysmorphic findings. Discussion: A heterogeneous group of central nervous system disorders may manifest antenatally as mild ventriculomegaly. The current management may not be able to identify dangerous conditions that present subtle dysmorphic features, or be able to predict abnormal outcome in most of the cases.

The aim of our study has been to evaluate predictive value of general movements (GMs) for neurological outcome in two groups of newborns: high-risk preterm and asphyxiated fullterm. We have evaluated 23 high-risk preterm (gestational age