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

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

Izvornik
Medizinische Genetik (0936-5931) 1 (1994);

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
mucopolysaccharidosis IV C; dental changes

Sažetak
Muccopolysaccharidosis (MPS) type IV (Morquio's disease) is clinically, genetically and biochemically very heterogenous. The current classification on type A and B with established enzymatic deficiencies and type C with unknown enzymatic defect only partially discloses heterogeneity of the Morquio disease. Here we present a twelve-year old girl and her seven-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 kyphosis, slight genua valga, flat feet, laxity of small joints of hands and fingers. 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 enzymes N-acetylgalactosamine-6-suphalte sulphatese and beta-galactosidase in fibroblasts was normal. The activities of other examined lysosomal enzymes were within normal range. After a careful analysis other known syndrome with short trunk skeletal dysplasia were dismissed as 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 patients confirm the old dictum that the heterogeneity of inherited metabolic diseases is more a rule than an exception. Furthermore, our observation is not in agreement with the assertion that the dental changes in MPS IV are u useful clinical way of distinguishing MPS IV B and C from MPS A.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA