A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis.

We here report a boy presenting with developmental delay, growth retardation, facial dysmorphisms, vermis hypoplasia, micropolygyria and corpus callosum agenesis. Conventional and high resolution cytogenetic analyses were normal but high resolution oligonucleotide array-CGH, performed at the age of 4 years, allowed the characterisation of a de novo 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication. Numerous 1qter deletions have already been described associated with brain malformations. Among 1q44 deleted genes, AKT3 is the strongest candidate gene for vermis hypoplasia and corpus callosum agenesis.

Chronic daily headache in French children and adolescents.

To characterize the clinical profile, comorbidity and aggravating factors, and outcomes, a consecutive series of 34 French children and adolescents with chronic daily headache was studied. Of 206 referred over an inclusive interval of 2 years for the evaluation of headaches, 34 merited a diagnosis of chronic daily headache, which was defined as persistent or daily headaches of at least 3 months in duration. The overwhelming majority were female (61.8%), with a mean age at diagnosis of 10.5+/-3.1 years (range, 2.9-14.8 years). According to the Silberstein-Lipton criteria, transformed migraine was the etiology in 61.8%, whereas according to the second edition of the International Classification of Headache Disorders, chronic migraine accounted for 50% of cases. Stressors were recognized in 82%. Analgesic abuse was evident in 52.9%. Of the 29 for whom follow-up information was available, headaches resolved or greatly improved in 93.1%. Children and adolescents with chronic daily headache are thus a small subset of children with headache seen in general ambulatory practice. They tend to be girls in the midteen years experiencing a transformed migraine complicated by analgesic abuse, suggesting potential preventability. Simple measures, which can include reassurance and analgesia education, can be expected to result in improvement and eventual resolution of headache symptoms.

Evaluation of inhaled .NO in a model of rat neonate brain injury caused by hypoxia-ischaemia.

OBJECTIVES: Inhaled NO (INO), at 5-40 parts per million (ppm) in the air, is indicated for treating neonatal hypoxic respiratory failure. Whether these doses of INO are protective or toxic towards brain was here evaluated in laboratory animals. METHODS: In rat neonates (postnatal day 7), a brain injury based on permanent right carotid artery occlusion plus transient (90 min) respiratory hypoxia (8% O(2)) was challenged by two NO dosages (10 and 40 ppm) given either before, during or after transient hypoxia. Three weeks later, animal brains were studied for the loss of cerebral matter (infarct or atrophy). RESULTS: In right hemispheres, significant increases (26-39%) in lesion sizes were induced by 40 and not 10 ppm INO, whatever the inhalation period. The two doses reduced significantly the left hemisphere volume only when NO was inhaled at the re-oxygenation period. DISCUSSION: Our results suggest that high doses of INO, brain damaging events and inhalation at re-oxygenation might affect brain integrity when these conditions are cumulated. However, the clinical relevance of this (infarct or atrophy) and previously described (haematomas) brain toxicity associated with INO remains to be clarified in the human neonates, for instance through non-invasive cerebral imagery follow-up of patients given INO.