Clinical History.—A 17-month-old girl was admitted to the hospital because of an abnormal gait. The patient had a moderate scoliosis that had been present since birth. Her previous motor development had been normal, she was sitting at 6 months, crawling at 9 months, and standing at 1 year of age. However, during the last three months, the mother had noted that the child had progressive difficulties in walking.
Physical Examination.—The patient was in less than the third percentile in both height and weight. A pectus excavatum as well as a cavitary defect in the left side of the chest wall anteriorly were noted. There was a moderate scoliosis with slight kyphosis at the thoracolumbar junction. Decreased muscular tone and weakness were noted in both lower extremities. Achilles reflexes were absent bilaterally. Results of the remainder of the physical examination were normal.
Complete blood count, electrolyte level, blood urea