INTRACTABLE INFANT DIARRHEA ASSOCIATED WITH PHENOTYPIC ABNORMALITIES AND IMMUNODEFICIENCY

We report on eight children with severe diarrhea beginning in the firs t 6 months of life (<1 month in six cases), who had a number of featur es in common. All were small for gestational age and had an abnormal p henotype, including facial dysmorphism, hypertelorism, and woolly, eas ily removable hair with trichorrhexis nodosa. Two were products of con sanguineous marriages. Severe secretory diarrhea persisted despite bow el rest (n = 7). Jejunal biopsy specimens showed total or subtotal vil lous atrophy with crypt necrosis, and inconstant T-cell activation in some cases (n = 3). Colon biopsy specimens showed moderate nonspecific colitis. All the patients had defective antibody responses despite no rmal serum immunoglobulin levels, and defective antigen-specific skin tests despite positive proliferative responses in vitro. Three had mon oclonal hyperimmunoglobulinemia A. The course was marked by diffuse er ythroderma In two cases and mental retardation in three. Treatment inc luded bowel rest, intravenous administration of immune globulins, admi nistration of corticosteroids (n = 6) and cyclosporine (n = 2), and bo ne marrow transplantation (n = 1). Five patients died between the ages of 2 and 5 years (of sepsis or cirrhosis), two are being fed enterall y, and one continues to receive total parenteral nutrition. The cause of the combined low birth weight, dysmorphism, severe diarrhea, tricho rrhexis, and immunodeficiency is unclear. These features may constitut e a specific syndrome within the group of intractable diarrheas of inf ancy.