Case Of the Week (COW) 27 Jan 2013
Answer:
Mucopolysacchardosis (MPS)- patient, known case of hurler’s syndrome.
Discussion:
MPS represents a heterogeneous group of inherited lysosomal storage disorders characterized by defective degradation of long-chain complex carbohydrates, GAGs. To date, 11 distinct types of MPS have been described, each one as the result of deficient enzymatic activity of a specific lysosomal hydrolase.
Radiographic findings include
Ø Large skull with thickened calvaria, premature suture closure, j-shaped sella turcica, and shallow orbits
Ø Abnormal spacing of teeth with dentigerous cysts
Ø Short, thickened and irregular clavicles
Ø Short, wide, and trapezoid shaped phalanges
Ø Oar-shaped ribs
Ø Anterior hypoplasia of the lumbar vertebrae with kyphosis
Ø Poorly formed pelvis with small femoral heads and coxa valga
Ø Enlarged diaphyses of long bones and irregular metaphyses.
Contributed By:
Dr. Karunakaran M Kalathi, Dr. Arun Chelladurai
Consultant Radiologists, Aarthi Scans, Thirunelveli
Answer:
Mucopolysacchardosis (MPS)- patient, known case of hurler’s syndrome.
Discussion:
MPS represents a heterogeneous group of inherited lysosomal storage disorders characterized by defective degradation of long-chain complex carbohydrates, GAGs. To date, 11 distinct types of MPS have been described, each one as the result of deficient enzymatic activity of a specific lysosomal hydrolase.
Radiographic findings include
Ø Large skull with thickened calvaria, premature suture closure, j-shaped sella turcica, and shallow orbits
Ø Abnormal spacing of teeth with dentigerous cysts
Ø Short, thickened and irregular clavicles
Ø Short, wide, and trapezoid shaped phalanges
Ø Oar-shaped ribs
Ø Anterior hypoplasia of the lumbar vertebrae with kyphosis
Ø Poorly formed pelvis with small femoral heads and coxa valga
Ø Enlarged diaphyses of long bones and irregular metaphyses.
Contributed By:
Dr. Karunakaran M Kalathi, Dr. Arun Chelladurai
Consultant Radiologists, Aarthi Scans, Thirunelveli