Agenesis of the corpus callosum (ACC) is a malformation which may occur either isolated or in association with other CNS or systemic abnormalities. ACC occurs sporadically, although the incidence is increased in chromosomal disorders such as trisomy 8, 13, or 18. Familial cases have also been reported. Apart from the CNS, the musculoskeletal and genitourinary systems may be affected as well. We...

Hypochondroplasia (HCH) is an autosomal dominant condition characterised by short stature, micromelia, and lumbar lordosis. In a series of 29 HCH probands (13 sporadic cases, 16 familial cases), we tested their DNA for the N540K recurrent mutation previously described in the proximal tyrosine kinase domain of the FGFR3 gene on chromosome 4p16.3, and we detected this mutation in 21/29 HCH patien...

A 1-year 9-month-old girl presented with achondroplasia. Serial magnetic resonance (MR) imaging demonstrated mild compression of the medulla oblongata by the occipital bone, macrocrania, and progressive hydrocephalus. Cerebrospinal fluid (CSF) flow study using MR imaging clearly demonstrated CSF flow disturbance at the cervicospinal junction. Foramen magnum decompression was performed for her h...

Objective: Interhemispheric arachnoid cysts (IHACs) are a rare congenital malformation arising from the duplication of membrane cerebral meninges associated with malformations corpus callosum. The scope this study is to describe series cases IHACs treated via neuroendoscopy in reference center. Method: description case children diagnosed IHAC undergoing neuroendoscopic treatment (cystoventricul...

Introduction: Infection is the most common complication encountered after ventriculoperitoneal shunt. The AIMS of this study to evaluate effectiveness antibiotic therapy with protocol in prevention post-operative infections shunt our city. Patients and methods: We retrospectively 20 hydrocephalus cases one year. They were operated through classic VP Shunt insertion technique adopted for implant...

BACKGROUND Hypoparathyroidism in children is a heterogeneous group with diverse genetic etiologies. To aid clinicians in the investigation and management of children with hypoparathyroidism, we describe the phenotype of a 6-year-old child with hypoparathyroidism and short stature diagnosed with Kenny-Caffey syndrome (KCS) Type 2 and the subsequent response to growth hormone (GH) treatment. CA...

Introduction: The chromosomal region 15q11-13 contains a group of genes essential for normal neurodevelopment and alterations in this result different syndromes. Among the most frequent alterations, there are deletions duplications. Duplications chromosome 15q11q13 occur as supernumerary 15, may interstitial main clinical manifestations intellectual impairment, problems with vision, hearing, te...

PURPOSE To compare CT and MR in the differentiation of benign enlargement of the subarachnoid spaces and subdural collections in infants with macrocephaly. METHODS MR was performed in 19 infants with macrocephaly, showing bifrontal enlargement of the subarachnoid spaces on CT. RESULTS In 11 patients, a single fluid layer could be distinguished on MR of the pericerebral collections, suggesti...

Interhemispheric cysts, often associated with agenesis of corpus callosum, are rare lesions. The optimal treatment is still controversial. Placement of cystoperitoneal shunt and open microsurgery are traditional treatments. Neuroendoscopy in children is due to its minimal invasiveness a new emerging option. There have been a few published cases on neuroendoscopic treatment of interhemispheric c...