Hip pathologies in mucopolysaccharidosis type III
نویسندگان
چکیده
منابع مشابه
Glycosaminoglycans and mucopolysaccharidosis type III.
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-...
متن کاملTotal Hip Arthroplasty in Mucopolysaccharidosis Type IH
Children affected by mucopolysaccharidosis (MPS) type IH (Hurler Syndrome), an autosomal recessive metabolic disorder, are known to experience a range of musculoskeletal manifestations including spinal abnormalities, hand abnormalities, generalised joint stiffness, genu valgum, and hip dysplasia and avascular necrosis. Enzyme therapy, in the form of bone marrow transplantation, significantly in...
متن کاملBilateral hip replacement in three patients with lysosomal storage disease: Mucopolysaccharidosis type IV and Mucolipidosis type III.
The management of joint replacement in lysosomal storage diseases has not been well reported. We present three patients with progressive degenerative changes of the hips who required bilateral total hip replacement in early childhood. The stature of the patients make it essential to have access to appropriately scaled prostheses. Consideration has to be given to associated disorders of the skel...
متن کاملCognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
BACKGROUND Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder caused by a deficiency of one of the enzymes involved in the degradation of heparan sulfate. MPS III is characterized by progressive mental deterioration resulting in severe dementia. A number of potentially disease-modifying therapies are studied. As preservation of cognitive function is th...
متن کاملMorphology in mucopolysaccharidosis type III: specific diagnostic features.
A 6-year-old girl from Pakistan was investigated for neurologic symptoms also affecting 3 other family members. She was the sixth child of parents who were first cousins, born at term with normal birth weight. Developmental milestones were normal until 5 years old when she developed restless behavior, loss of motor skills, stiff gait, muscular spasticity, hepatosplenomegaly, and dysmorphic faci...
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ژورنال
عنوان ژورنال: Journal of Orthopaedic Surgery and Research
سال: 2021
ISSN: 1749-799X
DOI: 10.1186/s13018-021-02340-6