Hurler Scheie Disease.
We present a very rare case of mucopolysaccharidosis type I (MPS I) which presented to us with respiratory distress. Our patient had short stature, coarse facial features, claw hands and clouding of both corneae. This article highlights the salient features present in a case of mucopolysaccharidosis type I.
PG Resident.
N
N
Sandeep
PG Resident.
Shailender
S
Rawal
Head of the Unit.
Surekha
S
Dabla
Associate Professor.
Sameer
S
Aggarwal
Registrar, Dept of Medicine, Pt. B.D. Sharma PGIMS, Rohtak, Haryana.
Manjri
D000293:Adolescent; D005260:Female; D006618:Hip Dislocation, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D050279:Metacarpal Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D008059:Mucopolysaccharidosis I / Q000175:diagnosis*; D012128:Respiratory Distress Syndrome / Q000209:etiology*