RESUMO
Laurence Moon Biedl syndrome is an autosomal recessive disorder characterized by obesity, hypogonadism, mental retardation, polydactyly, and retinitis pigmentosa. Guillain-Barre syndrome (GBS) or acute inflammatory demyelinating poly radiculo neuropathy (AIDP) is considered to be an immunological disorder with an acute and often fulminant evolution characterised by a syndrome of rapidly progressive flaccid paralysis, aflexia and albumino-cytological dissociation in the CSF. We are here with presenting case report of brothers with Laurence Moon Biedl syndrome (LBS) who presented with GBS simultaneously.
RESUMO
Laurence-Moon-Biedl syndrome is an autosomal recessive disorder characterized by obesity, hypogenitalism, polydactyly, mental retardation and retinitis pigmentosa. Occasionally, this syndrome is accompanied by renal anomaly, nystagmus, cataract, syndactyly, microcephaly, oxycephaly and congenital heart disease. Recently, we have experienced a 8-year-old female patient who has retinitis pigmentosa, obesity, and polydactyly. We report a case of Laurence-Moon-Biedl syndrome with a review of literature.
Assuntos
Criança , Feminino , Humanos , Catarata , Craniossinostoses , Cardiopatias Congênitas , Deficiência Intelectual , Síndrome de Laurence-Moon , Microcefalia , Obesidade , Polidactilia , Retinose Pigmentar , SindactiliaRESUMO
Laurence-Moon-Biedl syndrome is a rare inherited disorder and its common findings include pigmentary retinal degeneration, obesity, hypogonadism, mental retardation and digital anomaly. Recently, the authors experienced two cases of Laurence-Moon-Biedl syndrome in a family of 15 year-old male and 17 year-old female. In our cases, the male patient showed syndactyly and polydactyly, chorioretinal degeneration, hypogonadism and female patient showed polydactyly, chorioretinal degeneration, hypogonadism, obesity and mental retardation.
Assuntos
Adolescente , Feminino , Humanos , Masculino , Hipogonadismo , Deficiência Intelectual , Síndrome de Laurence-Moon , Obesidade , Polidactilia , Degeneração Retiniana , SindactiliaRESUMO
Laurence-Moon-Biedl syndrome is a rare and autosomal recessive disorder characterized by obesity, hypogenitalism, polydactylism, mental retardation and retinitis pigmentosa. Occasionally, this syndrome is accompanied by nystagmus, cataract, syndactylism, microcephaly, oxycephaly and congenital heart diseases. Recently, the authors have experienced a 20-year-old male patient who has retinitis pigmentosa, pendular nystagmus, obesity, hypogenitalism, polydactylism, mental retardation and gynecomastia. We report a case of Laurence-Moon-Biedl syndrome with the review of literature.
Assuntos
Humanos , Masculino , Adulto Jovem , Catarata , Craniossinostoses , Ginecomastia , Cardiopatias , Deficiência Intelectual , Síndrome de Laurence-Moon , Microcefalia , Nistagmo Patológico , Obesidade , Polidactilia , Retinose PigmentarRESUMO
Laurence-Moon-Biedl syndrome is a rare and autosomal recessive disorder characterized by obesity, hypogenitalism, polydactylism, mental retardation and retinitis pigmentosa. Occasionally, this syndrome is accompanied by nystagmus, cataract, syndactylism, microcephaly, oxycephaly and congenital heart diseases. Recently, the authors have experienced a 20-year-old male patient who has retinitis pigmentosa, pendular nystagmus, obesity, hypogenitalism, polydactylism, mental retardation and gynecomastia. We report a case of Laurence-Moon-Biedl syndrome with the review of literature.