Hurler syndrome

The correct answer is D.

Explanation
An infant with Hurler syndrome appears normal at birth. Diagnosis is made between 6 and 24 mo with evidence of hepatosplenomegaly, skeletal deformity, coarse facial features, corneal clouding, large tongue, prominent forehead, joint stiffness, and short stature. Acute cardiomyopathy may be a feature in some infants less than 1 yr of age.

Most children with Hurler syndrome acquire only limited language skills because of developmental delay, chronic hearing loss, and an enlarged tongue. Hearing loss is common and is due to a combination of conductive and neurosensory problems.

Most patients have recurrent upper respiratory tract and ear infections, noisy breathing, and persistent copious nasal discharge. Progressive ventricular enlargement with increased intracranial pressure caused by communicating hydrocephalus also occurs.

Corneal clouding, glaucoma, and retinal degeneration are commonly seen. Obstructive airway disease develops in many patients, necessitating tracheostomy. Obstructive airway disease, respiratory infection, and cardiac complications are the common causes of death.

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