5th February 2024

A 5-year-old child presents with seizures.

A 5-year-old child presents with seizures. He had a normal birth but quickly developed noisy breathing in the first few weeks of life. He has recurrent ear and respiratory infections. He has poor dentition with multiple caries and two episodes of dental abscesses. The increasing abdominal girth was noted on the background of reduced growth, with the patient under the fifth centile for height. 

Examination showed coarse facies, macroglossia, macrocephaly and hepatosplenomegaly. Bilateral sensorineural hearing loss was reported. He has coarse facial features. A pan-systolic murmur, loudest at the right second intercostal space, was heard. No corneal involvement was noted. The patient had a noticeable thoracolumbar kyphoscoliosis.

Which of the following is the likely underlying diagnosis?