A male child with coarse facial features, macroglossia, thick lips presents with copious mucous discharge from nose at 10 months of age. The child was absolutely normal at bih. On examination he was found to have enlarged Liver and Spleen. Diagnosis is:
Hurler's syndrome
Beckwith-Weidman syndrome
Hypothyroidism
Proteus syndrome
Ans: A. Hurler's syndrome(Ref Nelson 20/e p739)Likely diagnosis = Hurler's syndrome.Hurler's syndrome:Type 1 mucopolysacharidoses.AR disorder.Characterized by alpha L-iduronidase deficiency resulting in accumulation of dermatan > heparin-sulfate.Clinical features:Presents with Goesque gargoyle facies:Coarse and heavy face.Enlarged head - Due to hydrocephalus caused by meningeal deposits.Low forehead & ears.Eyes wide set.Wide nosePoorly formed & widespread teeth.Open mouth, enlarged tongue & eveed lips.Hepatosplenomegaly.Sho neck.Thoracolumbur kyphosis.Gibbus deformity with motor delays.Flexion contracture of joints.Sho stature.Genu valgum.Fiat feet.Broad-sho hand, radially curved little finger.Carpal tunnel syndrome in children.