Case of congenital short small intestine: survival with use of long-term parenteral feeding.

Isolated congenital short small intestine is a rare anomaly. Of six (one male, five females) previously reported cases, four died in infancy from intractable diarrhea. We report the case of 7-year-old boy with this syndrome in whom a 2-year period of parenteral feeding at home allowed normal weight gain, growth, and development while intestinal adaptation occurred. Parenteral feeding was discontinued at age 2 1/3 years, and for the past 5 years his weight has remained between the tenth and 25th percentiles and his stature between the 25th and 50th percentiles. His development has been normal and he functions at or above grade level at school. Coefficient of fat absorption has increased from 54% to 81%. Vitamin B12 absorption has improved but has not normalized. He remains lactose intolerant. We believe his survival, growth, and development would have been compromised if he had not received a prolonged period of parenteral feeding.