A clinical study of 77 patients with mucopolysaccharidosis type II.
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.
Schwartz
Ida V D
IV
Department of Genetics, UFRGS, Porto Alegre, Brazil. ida.ez@terra.com.br
Ribeiro
Márcia G
MG
Mota
João G
JG
Toralles
Maria Betânia P
MB
Correia
Patrícia
P
Horovitz
Dafne
D
Santos
Emerson S
ES
Monlleo
Isabella L
IL
Fett-Conte
Agnes C
AC
Sobrinho
Ruy P Oliveira
RP
Norato
Denise Y J
DY
Paula
Anna Carolina
AC
Kim
Chong A
CA
Duarte
Andréa R
AR
Boy
Raquel
R
Valadares
Eugênia
E
De Michelena
Maria
M
Mabe
Paulina
P
Martinhago
Cyro D
CD
Pina-Neto
João M
JM
Kok
Fernando
F
Leistner-Segal
Sandra
S
Burin
Maira G
MG
Giugliani
Roberto
R
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