[Neurogenic hypernatremia with adipsia and cerebral malformations in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate syndrome].
An infant with E.E.C. Syndrome (a genetic condition characterized by: Ectrodactyly, Ectodermal dysplasia, Cleft Lip-Palate) and delayed psychomotor development was found to have chronic hypernatremia and absence of thirst. Computerized brain tomography revealed abnormal lateral ventricles, agenesis of corpus callosum, calcified cortex. His plasma Anti Diuretic Hormone (ADH) levels were inappropriately low relative to his high values of plasma osmolality, whereas ADH responsiveness to nonosmotic stimuli was normal. E.E.C. Syndrome in this baby is characterized by: ectrodactyly of the feet, syndactyly of the 3rd and 4th finger of the hands, bilateral cleft lip and cleft palate, bilateral microtia, lacrimal ductular stenosis. To our knowledge, this is the first report of a case of chronic hypernatremia in conjunction with normal ADH stores, congenital abnormalities of brain structures, and E.E.C. syndrome.
D000015:Abnormalities, Multiple / Q000150:complications*; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004476:Ectodermal Dysplasia / Q000150:complications*; D006801:Humans; D006955:Hypernatremia / Q000209:etiology*; D007231:Infant, Newborn; D008297:Male; D009958:Orofaciodigital Syndromes / Q000150:complications*; D013894:Thirst; D014057:Tomography, X-Ray Computed
Ipernatremia neurogena con adipsia e malformazioni cerebrali in un bambino affetto da sindrome E.E.C.