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CHARGE syndrome (MIM#214800) (Coloboma, Heart defect, Atresia of choanae, Retarded growth and development, Genital hypoplasia, Ear abnormalities/deafness) is caused by heterozygous mutation of CHD7 transmitted in an autosomal dominant manner. In this report, we describe a patient with bilateral hearing impairment, unusually-shaped ears, no intellectual disability and a patent ductus arteriosus. Further investigation showed abnormal semicircular canals and the presence of olfactory bulbs. He does not fulfill the Blake or the Verloes criteria for CHARGE. A de novo mutation at the donor splice site of intron 33 was identified (c.7164 + 1G > A). It is of importance to diagnose mildly affected patients for appropriate genetic counselling and to better understand the mild end of the phenotypic spectrum of CHARGE syndrome., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Vestibular syndrome is not frequently described in patients with sickle cell disease. We report the case of a teenager with sickle cell disease who had a vestibular syndrome with vertigo that successfully responded to exchange transfusion. We discuss guidelines and review the literature in view of this case report. Sensorineural disorders should be considered as stroke syndromes. They require urgent treatment consisting of exchange transfusion or maintaining optimal hydration associated with blood withdrawal. Treatment of vestibular syndrome in sickle cell disease is urgent.

Vertigo and dizziness in children, when these symptoms are recognized, worry physician and children's families and urge them, before doing a good otological, neurological and vestibular clinical examination, on a prescription of CT scan or an NMR which are unnecessary test in most of the cases and expensive tests. A better knowledge of the clinical signs of vestibular deficit and of the most frequent origins of vertigo and dizziness in children (migraine equivalent, ophthalmological disorders, benign paroxysmal idiopathic pediatric vertigo, temporal bone fracture) permits a better and more adapted procedure for diagnosis and therapy.