Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 2 de 2
Filter
Add more filters










Language
Publication year range
1.
Acta pediatr. esp ; 64(10): 506-509, nov. 2006. ilus
Article in Es | IBECS | ID: ibc-050013

ABSTRACT

El síndrome de Miller-Dieker es una entidad que se caracteriza por una lisencefalia tipo I, microcefalia, frente prominente, estrechamiento craneal bitemporal, nariz estrecha con narinas antevertidas, labio superior prominente y micrognatia, ocasionada por mutaciones en el cromosoma 17p13, y que se manifiesta con retraso psicomotor severo, epilepsia de difícil control y trastornos de la alimentación. Presentamos el caso de una niña de 7,5 meses, con retraso psicomotor, epilepsia de difícil control, perímetro craneal en el límite bajo de la normalidad, frente prominente y micrognatia, en la que se comprobó una lisencefalia tipo I mediante resonancia magnética y la deleción del gen LIS1 mediante hibridación in situ (FISH). El síndrome de Miller-Dieker debe sospecharse ante un paciente con lisencefalia tipo I, los rasgos fenotípicos descritos y convulsiones de difícil control. El estudio genético mediante FISH resulta útil tanto para el diagnóstico definitivo como para el consejo genético


Introduction: Miller-Dieker syndrome is characterized by type I lissencephaly, microcephaly, prominent forehead, bitemporal hollowing, short nose with up turned nares, protuberant upper lip with a thin vermilion border, and small jaw. It is caused by different mutations on chromosome 17p13, and the clinical manifestations consist of severe psychomotor retardation, epilepsy with a poor response to treatment and eating disorders. Case report: We describe the case of a 7.5-month-old girl with psychomotor retardation, severe epilepsy with a poor response to treatment, head circumference at the lower limit of normal range, prominent forehead and small jaw. Magnetic resonance imaging confirmed the diagnosis of type I lissencephaly and fluorescence in situ hybridization (FISH) revealed deletion of the LIS1 gene. Comments: Miller-Dieker Syndrome should be suspected in any patient with type I lissencephaly, the phenotype described above and severe seizures. The genetic study by means of FISH is useful for both the diagnosis and genetic counselling


Subject(s)
Female , Infant , Humans , Microcephaly/complications , Micrognathism/complications , Epilepsy/complications , Cerebellar Diseases/diagnosis , Chromosomes, Human, Pair 17/genetics , Phenobarbital/therapeutic use , Clonazepam/therapeutic use
SELECTION OF CITATIONS
SEARCH DETAIL
...