title: A clinical study of 77 patients with mucopolysaccharidosis type II.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Genetics, UFRGS, Porto Alegre, Brazil. ida.ez@terra.com.br
authors: Ida V D
authors: IV
authors: Schwartz
authors: Márcia G
authors: MG
authors: Ribeiro
authors: João G
authors: JG
authors: Mota
authors: Maria Betânia P
authors: MB
authors: Toralles
authors: Patrícia
authors: P
authors: Correia
authors: Dafne
authors: D
authors: Horovitz
authors: Emerson S
authors: ES
authors: Santos
authors: Isabella L
authors: IL
authors: Monlleo
authors: Agnes C
authors: AC
authors: Fett-Conte
authors: Ruy P Oliveira
authors: RP
authors: Sobrinho
authors: Denise Y J
authors: DY
authors: Norato
authors: Anna Carolina
authors: AC
authors: Paula
authors: Chong A
authors: CA
authors: Kim
authors: Andréa R
authors: AR
authors: Duarte
authors: Raquel
authors: R
authors: Boy
authors: Eugênia
authors: E
authors: Valadares
authors: Maria
authors: M
authors: De Michelena
authors: Paulina
authors: P
authors: Mabe
authors: Cyro D
authors: CD
authors: Martinhago
authors: João M
authors: JM
authors: Pina-Neto
authors: Fernando
authors: F
authors: Kok
authors: Sandra
authors: S
authors: Leistner-Segal
authors: Maira G
authors: MG
authors: Burin
authors: Roberto
authors: R
authors: Giugliani
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D016532:Mucopolysaccharidosis II / Q000150:complications* / Q000378:metabolism / Q000523:psychology; D012189:Retrospective Studies; D012720:Severity of Illness Index; D013020:South America