RESUMO
Laurence-Moon-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, hypogenitalism, mental retardation, and renal abnormalities. We report the linguistic and gait disorders in a child with Laurence-Moon-Biedl syndrome associated with left temporal and parietal hypoplasia as determined by magnetic resonance imaging. Our patient was mildly mentally retarded, scoring better on the performance subtest than on the verbal subtest. He received serial assessments for developmental, language, speech, and gait functions, before and after rehabilitation, at age 4.5 and 6 yr, respectively. After comprehensive rehabilitation, the boy achieved improvement in speech, language, fine motor, and gait functions. Early comprehensive rehabilitation programs seem beneficial for improving functional development for children with Laurence-Moon-Biedl syndrome.
Assuntos
Marcha , Transtornos da Linguagem/etiologia , Síndrome de Laurence-Moon/fisiopatologia , Pré-Escolar , Humanos , Transtornos da Linguagem/reabilitação , Síndrome de Laurence-Moon/reabilitação , MasculinoRESUMO
In 1984, 32 persons with Laurence-Moon-Bardet-Biedl syndrome (LMBB) were registered in Norway. This means that the disorder was seen at a rate of 1 in 128,000 inhabitants. Of these, 26 attended the Frambu Health Centre, where they consulted a pediatrician, a psychologist, a dentist, a social worker, a geneticist, a teacher for the blind and an ophthalmologist. The cardinal signs were retinitis pigmentosa, obesity and polydactyly. We also found that all the patients had disturbance of tooth formation. Many had hypogenitalism. Mental retardation is usually included as a cardinal sign. Our impression is that most of the patients have normal intelligence. But this will be investigated further in a follow-up study on young people with LMBB.