Child with mucopolysaccharidosis type IV: Morquio syndrome
نویسندگان
چکیده
منابع مشابه
Mucopolysaccharidosis type IV (Morquio syndrome).
Fig. 4 : Photomicrograph of general blood picture showing inclusion bodies in lymphocyte (Gasser cell). A 5-year-old boy was brought to our medical OPD with severe chest deformity and growth retardation. He had six siblings of which two more had similar illness in a 21-year-old sister and 1-year-old brother (Fig. 1). His parents and grand parents had no such illnesses. Clinical examination reve...
متن کامل[Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy].
Mucopolysaccharidosis type IV-A (Morquio A disease) is an autosomal recessive lysosomal storage disease caused by mutations in the gene encoding the N-acetylgalactosamine-6-sulfate sulfatase, that results in impaired catabolism of two glycosaminoglycans, chondroitin-6-sulfate and keratan sulfate. Clinical presentations reflect a spectrum of progression from a severe phenotype to an attenuated e...
متن کاملHeart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
BACKGROUND Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions. It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and hemodynamic alterations have not been reported to date. We investigated the cardiovascular and hemodynamic alterations in patients with...
متن کاملProgressive acetabular dysplasia in a boy with mucopolysaccharoidosis type IV A (Morquio syndrome): a case report
BACKGROUND Morquio syndrome is an autosomal recessive lysosomal storage disorder, a mucopolysaccharidosis (PMS), characterized by abnormal metabolism of glycosaminoglycans. Major treatable concerns in patients with MPS type IV involve C1 to C2 instability, genu valgum, and hip subluxation. All patients demonstrate characteristic acetabular dysplasia and failure of ossification of the superolate...
متن کاملHurler syndrome (Mucopolysaccharidosis type I).
To cite: Grech R, Galvin L, O’Hare A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008148 DESCRIPTION Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of der...
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ژورنال
عنوان ژورنال: International Journal of Case Reports and Images
سال: 2015
ISSN: 0976-3198
DOI: 10.5348/ijcri-201533-cl-10088