Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.

Microdeletions of Xp22.3 are associated with contiguous gene syndromes, the extent and nature of which depend on the genes encompassed by the deletion. Common symptoms include ichthyosis, mental retardation and hypogonadism. We report on a boy with short stature, ichthyosis, severe mental retardation, cortical heterotopias and Dandy-Walker malformation. The latter two abnormalities have so far not been reported in terminal Xp deletions. MLPA showed deletion of SHOX and subsequent analysis using FISH and SNP-arrays revealed that the patient had an 8.41 Mb distal deletion of chromosome region Xp22.31 --> Xpter. This interval contains several genes whose deletion can partly explain our patient's phenotype. His cortical heterotopias and DWM suggest that a gene involved in brain development may be in the deleted interval, but we found no immediately obvious candidates. Interestingly, further analysis of the family revealed that the patient had inherited his deletion from his mother, who has a mos 46,X,del(X)(p22)/45,X/46, XX karyotype.

[Main points and concerns in plagiocephaly]. / Hoofdzaken en kopzorgen bij plagiocefalie.

An asymmetrical head (plagiocephaly) may be due to premature closure of the sutures of the skull (craniosynostosis) or to prolonged pressure on one side of the head in the pre- peri- or postnatal period. The latter deformity may be part of the squint baby syndrome. The diagnosis is based on a careful history and physical examination. X-rays of the skull and/or the cervical vertebral column are seldom necessary to confirm the diagnosis. Physiotherapy in an early stage, directed toward plagiocephaly and associated disorders, results in a complete disappearance of symptoms in a high percentage of cases.

Long-term neuropsychological performance in a cohort of children and adolescents after severe paediatric traumatic brain injury.

OBJECTIVE: The purpose of the present study was to evaluate progress in neuropsychological performance in children and adolescents with severe paediatric traumatic brain injury (TBI), from admission to the rehabilitation centre up to 3-12 years after the trauma. METHODS: Children and adolescents (n = 31, mean age at injury 11.8 years, SD = 3.8; at follow-up 18.8 years; SD = 4.5) who all had suffered a TBI participated. A comprehensive neuropsychological test battery was administered at the start of rehabilitation (T1), around discharge (T2) and in the long-term (at least 3 years after rehabilitation; T3). T1 and T2 were clinical assessments; T3 was executed as a follow-up measurement for this study. RESULTS: At T1 and T2, most problems were in the domains of attention, memory and executive functioning. At the start of rehabilitation most deficits were with performal intelligence (61%); at discharge (mean length of stay 411 days) considerably less children had severe deficits on the intelligence domain (23%). At long-term follow-up, most problems were in the domains attention, mental speed and memory. From admission to discharge 42% of the children improved on two or more cognitive tests; from discharge to follow-up this percentage was 13%. CONCLUSIONS: In this unique study a clinical cohort of children with severe TBI was followed for many years after injury. Most cognitive deficits were found in the early phase of rehabilitation. Most children did improve on cognitive functioning (40%) during the first year after their injury, whereas at follow-up most children had not changed. At follow-up, more than half of the children (54%) attended a regular school or had a regular job, corresponding to their age and pre-morbid functioning.