The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1.

The incidence of headache at the onset of relapsing-remitting pediatric multiple sclerosis (MS) is more frequent than in the adult MS population, but headache as the only symptom of a relapse, both in adults and children, is unusual. Here we describe the case of a 5-year-old child who developed MS and in whom migraine-like headache was the presenting symptom at both the onset of the disease and the following 2 relapses. Moreover, the first relapse was characterized by the occurrence of headache that fulfilled the time criteria for status migrainosus. The presence of headache during MS might depend on the anatomic distribution of lesions. In our case, the demyelinating plaques localized in the midbrain, the periaqueductal gray matter, and the upper cervical cord together with the meningeal reaction and the diffuse brain swelling might have caused the onset of migraine-like headache and the status migrainosus. The causal relationship between headache and MS attacks, in our case, was also confirmed by the improvement of headache under immunomodulatory treatment for MS, because it is known that headache is often caused or exacerbated by interferon beta therapy.

This paper presents the design, development and preliminary test of a new active micmndoscope for neuroendoscopy and therapy of the spinal cord. Endoscopy of the spinal suh-arachnoid space is useful for some pathologies, hut it is a very challenging task for several reasons: the navigation space is very narrow, there are many blood vwels and delicate structures which could he damaged by manoeuvres and large forces and, finally, the Cerehro-Spinal Fluid (CSF) is a peculiar environment which must he preserved. An innovative method for active safe navigation io the sub-arachnoid space has been devised, based on hydrojets sustentation of the endoscope. The hydrojets, if appropriately tuned and oriented, allow the tip of the endoscope to avoid the delicate Structures of the spinal cord and could also assist propulsion. A MATLAB simulation of the hydrojets is illustrated and a digital controller for the regulation of the hydrojets is demonstrated. The pressure ripple is about 5%, as tested experimentally on a 2D simulator. A prototype of steerable microendascape whose tip is equipped with hydrojets has been fabricated and tested in an artificial path simulating the suh-arachnoid space. Performance are quite interesting.

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