Resumen

ALVAREZ-SANZ, Ana M; CABANILLAS-BURGOS, Lizeth Y  y  HUAMANI-CONDORI, Ximena P. Joubert syndrome associated with Dandy-Walker malformation in a pediatric patient: a case report. Rev Neuropsiquiatr [online]. 2017, vol.80, n.1, pp.75-79. ISSN 0034-8597.  http://dx.doi.org/10.20453/rnp.v80i1.3061.

The case of a 10-month-old girl with apnea and hyperpnea, hypotonia and nystagmus from the time of birth, is presented. During her first months of life she presented additional manifestations of renal failure, psychomotor retardation and severe infections. The diagnosis of Joubert syndrome associated with Dandy-Walker Malformation was formulated, and the typical “Molar Tooth” sign, characteristically associated with the cyst characteristics was detected with magnetic resonance imaging tests. The uncommon association of these brain malformations that worsen the prognosis, is discussed.

Palabras clave : Joubert syndrome; Dandy-Walker malformation.

        · resumen en Español     · texto en Español     · Español ( pdf )