Module 52, General Medical Level

A 3 year old girl is brought for evaluation because of possible scoliosis. Her developmental history was of a normal vaginal delivery weighting 8 pound 6 ounce, full term female with no perinatal events and normal intrauterine movement. She was developing normally until 6 months of age when parents noticed she stopped moving her legs and lost the ability to roll over. At that time a work up including muscle biopsy concluded that the diagnosis was Spinal Muscular Atrophy. She was managed with outpatient and inpatient rehabilitation consisting of intensive physical, occupational and aquatic therapy and the use of long leg braces at age of 2. By age three there was concern about her spine. Radiographic evaluation at age of 3 years was done(above).

Question 52A

This is a typical history for Type I: Acute Werdnig Hoffman Disease which is a subtype of spinal muscular atrophy in which the children are developing normally but suddenly develop the inability to move.

Question 52B

The severe weakness is usually life threatening in these children.

Question 52C

This child probably also has severe cognitive delay.

Question 52D

Scoliosis does occur commonly in children with SMA, but is not a major cause of disability compared to their other problems.

Question 52E

Hip dislocation is another common problem in children with SMA.