P0651 A PEDIATRIC PATIENT WITH CROHN???S DISEASE AND 1p36 DELETION SYNDROME

Abstract

Introduction: Crohn’s disease(CD) is a multifunctional disorder involving polygenic defects. Here we report a pediatric case of CD associated with 1p36 defect. Methods: Case report Results: The patient was born by cesarean section after 29-week gestation due to the severe toxemia of pregnancy. Her birth weight was 814g, and serious asphyxia and hypotonia were observed. MR imaging disclosed periventricler leukomalacia. In late infancy, she showed severe psycomotor retardation, and infantile spasm. She also had small-sized hands and feet and peculiar countenance such as microcephaly, protruded forehead, sunken eyes, low set ears and a sharp jaw. These features suggested that she had a disorder related to multiple gene abnormalities or chromosomal alteration. She could eat any kinds of soft foods with an assistant, but was bedridden because her motor development was quite retarded. At the age of 5, she suffered from intractable diarrhea, bloody excrement and a fever. She was 100cm in height and 9.8kg in weight (2kg loss in a half-year). She had edema of a whole body caused by quite severe malnutrition. She was in bad temper when her abdomen was examined for detection of two masses in the right flank and in the left abdominal region. Blood examination showed that marked accelerated erythrocyte sedimentation rate, high levels of immunosuppressive acidic protein and sialic acid. Retrograde colonography showed two lesion of cobblestone appearance in sigmoid colon and severe stenosis in descending colon. Histological findings showed chronic nonspecific inflammation of colon but noncaseous granuloma was not detected. All other clinical and laboratory findings were compatible with the diagnosis of CD. Intravenous hyperalimentation (IVH) was undertaken and two courses of methylpredonisolone pulse therapy followed by oral predonisolone(PSL), azathioprine and salazosulfapyridine were given. But her symptom was PSL dependent and even some side effects of it were observed. Therefore an administration of infliximab (IFX) (5mg/kg) was performed. Her symptoms and laboratory data responded immediately to the IFX. Elementary diet could be started and PSL dosage could be reduced with withdrawal of IVH. After 7 weeks, she had recurrence of slight bloody stool, and IFX with hydrocortisone was re-administered. The remission was obtained again and continued for over 17 weeks. The FISH analysis with subtelomere probe revealed that she has 1p36 deficiency syndrome. Conclusion: This is the first report of 1p36 deletion syndrome patient with CD. Cho et. al. (1998) reported that 1p37 has a high lod score using linkage analysis of CD families. Analysis of this extremely rare case may indicate a candidate gene in CD.