Case Of the Week (COW) 07 Dec 2014
Answer:
Morquio syndrome
Findings:
SPINE
1)Platyspondyly 2)hypoplasia of odontoid peg Pelvis 1)coxa valga 2)goblet shaped flared iliac wings 3)increased acetabular angles 4)constricted iliac bone base 5)Flattened femoral epiphyses
HAND 1)Wide metacarpals with proximal pointing, irregular carpal bones 2)Short and wide tubular bones
KNEE 1)Genu valgum
Discussion:
Mucopolysaccharidosis (MPS) is a rare inherited biochemical disorder characterised by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues owing to insufficient amounts of the enzyme galactosamine sulphate (type A) and galactosidase (type B) to break them down. Affected children have normal intelligence and usually survive well into adulthood. Patients can be clinically distinguished from other forms of MPS by unimpaired intelligence in Morquio. Husler coined the term dysostosis multiplex to describe the skeletal findings. Radiographic features include oval vertebral bodies with anterior beaking and unossified femoral heads with proximal femoral valgus deformities and broad, flat (wine-glass shape) ilia in premature skeleton.
Contributed By:
Contributed By:
Dr. Balaji Ayyamperumal
Tanjore medical college
Answer:
Morquio syndrome
Findings:
SPINE
1)Platyspondyly 2)hypoplasia of odontoid peg Pelvis 1)coxa valga 2)goblet shaped flared iliac wings 3)increased acetabular angles 4)constricted iliac bone base 5)Flattened femoral epiphyses
HAND 1)Wide metacarpals with proximal pointing, irregular carpal bones 2)Short and wide tubular bones
KNEE 1)Genu valgum
Discussion:
Mucopolysaccharidosis (MPS) is a rare inherited biochemical disorder characterised by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues owing to insufficient amounts of the enzyme galactosamine sulphate (type A) and galactosidase (type B) to break them down. Affected children have normal intelligence and usually survive well into adulthood. Patients can be clinically distinguished from other forms of MPS by unimpaired intelligence in Morquio. Husler coined the term dysostosis multiplex to describe the skeletal findings. Radiographic features include oval vertebral bodies with anterior beaking and unossified femoral heads with proximal femoral valgus deformities and broad, flat (wine-glass shape) ilia in premature skeleton.
Contributed By:
Contributed By:
Dr. Balaji Ayyamperumal
Tanjore medical college