SciELO - Scientific Electronic Library Online

 
vol.76 número6Exanguineotransfusión como tratamiento para la coqueluche graveManifestaciones orales de la epidermolisis bulosa en el niño índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

BIBAS B, Hilda; CORONEL M, Ana M; FAUZE B, Ricardo  y  SIALLE G, Marcela. Joubert Syndrome and “molar sign” in the renal-ocular-cerebelar complex in two patients. Rev. chil. pediatr. [online]. 2005, vol.76, n.6, pp. 605-611. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062005000600008.

Joubert Syndrome (JS) is an autosomal recessive disorder characterized by respiratory abnormalities in the neonatal period, abnormal eye movements (such as oculomotor apraxia and nystagmus), hypotonia at birth followed by truncal ataxia, developmental delay, mental delay, and suggestive facial features. It is clinically heterogeneous with some patients presenting with Leber congenital amaurosis, nephronoptisis or medullary cystic kidney disease. Magnetic resonance imaging of the brain shows the “molar tooth sign”, cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormal large interpeduncular fossa. “Bat wing” appearance of the fourth ventricle is another typical finding. Currently, JS is included in the group of cerebello-oculo-renal syndromes (CORs). We report 2 children (one male and one female) with clinical and radiological findings consistent with JS

Palabras llave : Joubert syndrome; molar sign; amaurosis; nephronoptisis; vermix.

        · resumen en Español     · texto en Español