Thursday, July 7, 2011


This five year old child appeared normal at birth, but started having problems in the third month of life. At that time, she had developmental delay and recurrent respiratory infections with chronic nasal discharge. Although her growth was fine for the first year, this slowed by the second and third year to minimal. Her developmental milestones peaked at multiword sentences and walking at age 3, but has started to regress. Parents are concerned that her trouble walking is because of joint stiffness and contractures. Past medical history is significant for frequent ear, sinus, and pulmonary infections with thick secretions.

On exam, you palpate both the liver and the spleen as well as an inguinal hernia. The eye exam is noted below, and indeed, her vision and hearing has declined. While she is in the waiting room, she falls asleep and you note some sleep apnea.

Challenge: Unfortunately, the average life expectancy is 5 years and nearly all patients die before 10 years if they have what disease?

Images shown under Fair Use.


Anonymous said...

Hurler syndrome

daisy said...


Craig Chen said...

good identification!

Hurler Syndrome is one of the many mucopolysaccharidoses or lysosomal storage disorders, characterized by the inability to break down glycosaminoglycans. The images show coarse facies, a gibbus deformity, a depressed nasal bridge with flared nares, and a puffy face. The third image shows corneal clouding.

Source: UpToDate, including all images.