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5.
J Pediatr Health Care ; 29(1): 97-103, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-24954735

RESUMEN

Abnormal cholesterol metabolism is the cause of SLOS, with low cholesterol levels and elevated levels of cholesterol precursors thought to contribute to the clinical findings in this syndrome. Management of SLOS involves early intervention with appropriate therapies for identified disabilities, genetic counseling for families, nutritional consultations, educational interventions, and behavioral management. Although no randomized dietary studies have been conducted, cholesterol supplementation continues to be a common recommendation for persons with SLOS, because it may result in clinical improvement and has few adverse effects (Nowaczyk, 2013). Even with early detection and treatment (e.g., sibling B in this case report), persons with SLOS often have significant behavioral issues and cognitive and developmental delays that require a team approach by parents, educators, specialists, and primary care providers.


Asunto(s)
Síndrome de Smith-Lemli-Opitz/diagnóstico , Anomalías Múltiples/diagnóstico , Preescolar , Humanos , Recién Nacido , Masculino , Microcefalia/diagnóstico , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/sangre , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/genética , Hermanos , Síndrome de Smith-Lemli-Opitz/genética , Síndrome de Smith-Lemli-Opitz/patología , Síndrome de Smith-Lemli-Opitz/terapia
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