Naslov
Mucopolysaccharidosis IV C in brother and sister (with dental chages typical for mucopolysaccharidosis IV A)

Autori
Ligutić, Ivo ; Barišić, Ingeborg ; Škrinjarić, Ilija

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
1. hrvatski kongres humane genetike - Final programme and abstract book / - Zagreb, 1994, 64-64

Skup
Hrvatski kongres humane genetike (1 ; 1994)

Mjesto i datum
Zagreb, Hrvatska, 22.09.1994. - 25.09.1994

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
mucopolysaccharidosis IV C; dental changes

Sažetak
Mucopolysaccharidosis (MPS) type IV (Morquio's disease) is clinically, genetically and biochemically very heterogeneous. The current classification on type A and B with established enzymatic deficiency and type C with unknown enzymatic defect only partially disclose heterogeneity of the Morquio disease. Here we present a fourteen-year old girl and her nine-year old brother with short trunk dwarfism, normal intelligence, coarsening of facial features, mixed type of conductive and sensorineural deafness, short neck, pectus carinatum, lumbar kypohsis, slight genua valga, flat feet, laxity of all joints, especially of hands and fingers. The skeletal survey showed changes consistent with MPS IV. Keratosulphaturia was not proved, but hondroitin sulphate 4 and 6 in urine were elevated. The activity of the enzyme N-acetylgalactosamine-6-sulphate sulphatase and the beta-galacotosidase in fibroblasts was normal. The activities of other examined lysosomal enzymes were within normal range. After careful analysis other known syndromes with short trunk skeletal dysplasia were dismissed as a possible cause of the disease. In both sibs extensive dental changes typical for MPS IV A were found. In the girl a diagnosis of cistinuria type I was also established. Our observation does not confirm with the assertion that the dental changes in MPS IV are a useful clincal way of distinguishing MPS IVB and C from MPS A.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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