Clinical History.—A 4-week-old infant girl was admitted to hospital with cough and rash since birth. She was well at birth, but with her first feeding became cyanosed and a cough developed. A chest roentgenogram showed right upper lobe pneumonia, for which ampicillin trihydrate and gentamicin sulfate were given. A maculopapular rash then developed. She continued to cough and was referred for the investigation of a presumed tracheoesophageal fistula.
The patient had a brother who died of thymic aplasia. In addition, there was a strong family history of consanguinity.
Physical Examination.—The infant was in distress and cyanosed. Respiratory rate on admission was 60/min, pulse rate was 160 beats per minute, and temperature 38.5°C. Systolic blood pressure was 60 mm/Hg. There was a diffuse maculopapular rash predominately over the genitalia, legs, scalp, and face. There was no lymphadenopathy. The chest was hyperinflated with poor air entry on the right side.