A male child with coarse facies, macroglossia, thick lips with hepatosplenomegaly presents with copious mucus discharge from nose. Probable underlying diagnosis is:
a. Hurler disease(Ref: Nelson's text book of Pediatrics, 20th ed/p 747-743, Ghai 8/e p 659-661)Hurler disease (deficiency of L-iduronidase)Diagnosis is usually made between 6-24 months of age with hepatosplenomegaly, coarse facial features, corneal clouding, large tongue, prominent forehead, joint stiffness, short stature and skeletal dysplasiaMost patients have recurrent upper respiratory tract infections, noisy breathing and copious nasal dischargeValvular heart disease, obstructive airway disease, respiratory infection, and cardiac complications are common.
Hurler disease
Beckwith-Wiedemann syndrome
Proteus syndrome
Hypothyroidism
Inborn Errors of Metabolism