Maroteaux-Lamy syndrome.
Mucopolysaccharidoses are a type of lysosomal storage disorders characterized by defect in the degradation of Mucopolysaccharides due to deficiency of specific lysosomal enzymes leading to their accumulation in various tissues. MPS -VI (Maroteaux-Lamy Syndrome) is an autosomal recessive syndrome due to deficiency of enzyme Aryl- Sulfatase -B, and is characterized by characteristic facies, normal intelligence, Dysostosis multiplex, organomegaly, joint stiffness, corneal clouding and striking inclusions in peripheral blood leucocytes. We present an 8-year-old male child with MPS-VI syndrome, confirmed by enzyme assay.
Lakhotia
Siddharth
S
Department of Surgery, SS Medical College, Associated GM and SGM Hospitals, Rewa, Madhya Pradesh, India.
Sharma
Alok
A
Shrivastava
G P
GP
Jain
S K
SK
D000015:Abnormalities, Multiple; D001192:Arylsulfatases / Q000172:deficiency; D002648:Child; D004392:Dwarfism; D006801:Humans; D007962:Leukocytes / Q000648:ultrastructure; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis*
D001192:Arylsulfatases