Assuntos
Ataxia/genética , GTP Fosfo-Hidrolases/genética , Perda Auditiva/genética , Deficiência Intelectual/genética , Atrofia Óptica/congênito , Espasmo/genética , Adolescente , Idade de Início , Cegueira/etiologia , Cegueira/genética , Criança , Constipação Intestinal/etiologia , DNA/genética , Transtornos de Deglutição/etiologia , Feminino , GTP Fosfo-Hidrolases/metabolismo , Heterozigoto , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação/genética , Mutação/fisiologia , Atrofia Óptica/genética , Atrofia Óptica Autossômica Dominante/complicações , Atrofia Óptica Autossômica Dominante/genética , Atrofia Óptica Autossômica Dominante/patologia , Doenças do Sistema Nervoso Periférico/complicações , Doenças do Sistema Nervoso Periférico/genética , Doenças do Sistema Nervoso Periférico/patologiaRESUMO
Mutations in the SLC9A6 gene cause Christianson syndrome in boys. This X-linked syndrome is characterized by profound mental retardation with autistic behavior, microcephaly, epilepsy, ophthalmoplegia, and ataxia. Progressive cerebellar atrophy with motor regression is a remarkable feature in some patients. We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation. The infantile phenotype suggested pervasive developmental disorder, then profound mental retardation ensued. In later childhood, progressive cerebellar atrophy was diagnosed on serial brain MRIs and motor regression occurred. Furthermore, ophthalmological evaluations showed a retinitis pigmentosum previously unreported in this condition. We conclude that the natural history of the disease in this patient tends to confirm the degenerative nature of Christianson syndrome, and that retinal degeneration may be part of the condition. Before the onset of degeneration, the syndromic association of severe mental retardation, autistic behavior, external ophthalmoplegia, and facial dysmorphism in male patients is a clue to the diagnosis.
Assuntos
Deficiência Intelectual Ligada ao Cromossomo X/genética , Mutação/fisiologia , Retinose Pigmentar/genética , Trocadores de Sódio-Hidrogênio/genética , Ataxia/etiologia , Atrofia , Doenças Cerebelares/genética , Códon sem Sentido/genética , Análise Mutacional de DNA , Progressão da Doença , Eletroencefalografia , Humanos , Imageamento por Ressonância Magnética , Masculino , Deficiência Intelectual Ligada ao Cromossomo X/psicologia , Mutação/genética , Degeneração Retiniana/etiologia , Degeneração Retiniana/patologia , Retinose Pigmentar/psicologia , Síndrome , Adulto JovemRESUMO
Myhre syndrome is a very rare condition described thirty years ago and related to mutations in the SMAD4 gene. It has been reported in 19 patients, including 13 males and 6 females before the recent finding of heterozygous mutations in the SMAD4 gene in 19 patients. It is characterized by mental retardation, short stature, muscle hypertrophy, limitation of joints movements, deafness, skeletal anomalies, and facial dysmorphism. Ophthalmological involvement includes hypermetropia and congenital cataract. We report here the new finding of retinal involvement including retinitis pigmentosa and maculopathy in two unrelated patients with Myhre syndrome. The patient with retinitis pigmentosa carried the p.I500T mutation in SMAD4, but no mutation was found in the patient with the maculopathy.
