Subject(s)
Abnormalities, Multiple/pathology , Eye Abnormalities/pathology , Hearing Loss/pathology , Siblings , Syndrome , Adult , Blepharophimosis/pathology , Blepharoptosis/pathology , Female , Genitalia/abnormalities , Humans , Male , Radius/pathology , Synostosis/pathology , Ulna/pathology , Umbilicus/pathologyABSTRACT
AIM: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). METHODS: Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or their families, and physical examination of the patients. RESULTS: Mean birth weight was 3360 g, median age at onset of symptoms was 18 months and median age at diagnosis was 6 years. For the whole sample (median age, 8.2 years; range, 2.8-53.0 years), neurological degeneration, typical pebbly skin lesions, seizures and extensive dermal melanocytosis were found in 23.3, 13.0, 13.0 and 1.3% of the cases, respectively. The most frequently reported echocardiogram abnormality was mitral valve regurgitation. Refraction errors were the most common ophthalmological manifestation. The following characteristics were found to be associated with the severe form of MPS II: earlier age at biochemical diagnosis, higher levels of urinary glycosaminoglycans, language development delay, behavioural disturbances, poor school performance and mental retardation. CONCLUSION: Our results suggest that there is a considerable delay between the onset of signs and symptoms and the diagnosis of MPS II in Brazil (and probably in South America as well), and that many complications of this disease are underdiagnosed and undertreated. Therefore, the implementation of programmes aiming to increase the awareness of the disease, the availability of biochemical diagnostic tests and the provision of better support to affected patients is urgently needed.
Subject(s)
Mucopolysaccharidosis II/complications , Adolescent , Adult , Age of Onset , Child , Child Development , Child, Preschool , Female , Follow-Up Studies , Humans , Male , Middle Aged , Mucopolysaccharidosis II/metabolism , Mucopolysaccharidosis II/psychology , Retrospective Studies , Severity of Illness Index , South AmericaSubject(s)
Mucopolysaccharidosis II/genetics , Mutation , Child , Child, Preschool , Codon , Exons , Humans , Iduronate Sulfatase/genetics , Male , Mucopolysaccharidosis II/diagnosis , PhenotypeABSTRACT
Objetivo: Descrever um caso atípico de síndrome de Down com manifestações clínicas adicionais, que podem ser componentes da síndrome de Cabúqui (síndrome de Niidawa-Kuroki). Relato clínico: Relatamos a história clínica de uma menina de 19 meses de idade com cariótipo 47,XX,+21, que apresentava braquicefalia, face plena, fissuras palpebras inferiores, supercílios arqueados e escassos nas regiões laaterais, cílios longos, epicano, catarata cortical, orelhas pequenas, língua protrusa, hipotonia muscular, atraso psicomotor, hiperflexibilidade articular, braquidactilia e alterações dermatoglíficas. Conclusão: o diagnóstico de síndrome de Down foi confirmado citogeneticamente. Entretanto, a presença de anomailias adicionais - notadamente na região ocular - sugerem que a criança, provavelmente, manifesta também a síndrome Cabúqui
Subject(s)
Humans , Female , Infant , Down Syndrome/complicationsABSTRACT
Objetivo: Investigar as causas de surdez pré-verbal em uma populaçäo institucionalizada, com enfoque sobre a etiologia genética, considerando-se a escassez de dados nacionais nessa área. Métodos: Com base nos prontuários de 658 alunos matriculados em 18 instituiçöes para deficientes auditivos de Recife, foram obtidas informações relativas a testes audiológicos, exames lanboratoriais, etiologia, anomalias associadas, consagüinidade e presença de outros surdos na família; exame dismorfológico foi realizado em 557 alunos; todas as famílias com casos recorrentes de surdez foram investigadas, tendo sido constituídas as genealogias pertinentes...
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Deafness/genetics , Hearing TestsABSTRACT
Neste artigo apresentamos uma revisäo sucinta da literatura concernente à surdez hereditária, considerando os principais aspectos históricos, a heterogeneidade genética, o mapeamento gênico e os problemas relacionados com o aconselhamento genético.
