Dr. Kretchmer: For many years pediatricians have known a group of inherited diseases associated with specific biochemical defects. Actually, these diseases were first compiled and demonstrated by Sir Archibald Garrod approximately 50 years ago. The case we would like to present, one of cystinosis or cystine storage disease, is an example of one of the so-called inborn errors of metabolism.
Patient B.F. was admitted to the New York Hospital with a chief complaint of growth retardation. She was the product of a normal, full-term, spontaneous delivery, and developed well until 2 years of age when growth retardation was noted.
The child has photophobia and has always demonstrated polyuria. There has been no history of convulsions. The patient has been followed by a private physician for the past 2 years.
The members of the family are indicated in Figure 1. There were three deaths, the maternal father who died of diabetes mellitus complicated with arteriosclerosis; and two siblings of the father, one who died of poliomyelitis and the other of pneumonia.
The father and mother of the present patient are living and well, one sibling died last year at the age of 7 years of cystine storage disease, and an elder male sibling of 11 years is alive and well.
The physical examination indicated a temperature of 37.7°C, a pulse of 100, respirations of 20, and a normal blood pressure. The patient is 92 cm tall and weighs 13.2 kg, and is a small, doll-like, pale, co-operative, bright girl. Also noted were the diminutive stature, haziness of the corneas, photophobia and polyuria.
- Copyright © 1957 by the American Academy of Pediatrics