We report a case of PAX6 gene mutation with early-onset diabetes mellitus and aniridia. Low insulin secretory capacity in her parents suggested that her insulin secretory defect is as a result of not only PAX6 mutation but other genetic factors inherited from her parents.

Sirs,We read with interest the article entitled "Diagnosis of Henoch-Schönlein purpura: renal or skin biopsy" by Davin and Weening in this journal [1]. As they stated, the clinical picture of Henoch-Schönlein purpura (HSP) is often incomplete and the diagnosis can be missed when based on clinical signs only. We report a young girl with HSP in whom severe colicky abdominal pain preceded a typical purpuric rash. In this patient, measurement of plasma factor XIII activity (F XIII) was helpful in the diagnosis of HSP even before the rash developed.An 8-year-old girl was referred and admitted to our hospital because of colicky abdominal pain for 7 days. Her family history and past illnesses were unremarkable. Physical examination revealed only slight tenderness in the periumbilical region with decreased bowel movements. Mcburney's sign was absent. No purpuric rash was noted. There were also no evident painful swellings of knees or ankle joints. Other systems were normal. Laboratory data demonstrated leukocytosis (17.810 3 /mm 3 with 85.6% neutrophils) with slightly elevated C-reactive protein (1.0 mg/dl, normal <0.3). The plasma level of F XIII was decreased to 34% (normal 70%-140%) and hypoproteinemia (serum albumin 1.9 g/dl) was also noted. The following were normal or negative: hemoglobin level, platelet count, urinalysis, transaminase, blood urea, and electrolytes. Abdominal X-ray showed only a constipated colon.Based on these clinical presentations, a presumptive diagnosis of HSP, of which abdominal symptoms preceded the purpuric rash, was made. We also had high index of suspicion of torsion of the ovary, choledochal cyst, intestinal malrotation, intussusception, and appendicitis as possible diagnoses. Therefore, abdominal X-ray and ultrasonography were repeatedly performed without any positive findings.A macropapular purpuric rash was noted on the buttocks and the flexor aspect of both lower limbs on the 6th day of admission. The diagnosis of HSP was confirmed at this time. Because F XIII concentrate can ameliorate the severe abdominal symptoms in HSP [2], it was then administered intravenously for 3 consecutive days. The abdominal pain, however, did not improve and oral prednisolone (1 mg/kg daily) was initiated. This resulted in a dramatic improvement in her abdominal pain. Levels of plasma F XIII and serum albumin returned to normal by the 15th day and the 20th day of illness, respectively, and she was discharged on the 24th day. During the course, no urine abnormalities were detected. We considered that her transient hypoproteinemia was due to protein losing enteropathy, which has occasionally been reported in children with HSP [3], because it returned to normal in parallel with improvement of her abdominal symptoms.Gastrointestinal involvement is observed in approximately two-thirds of children with HSP and usually is manifested by abdominal pain [4]. Abdominal symptoms precede the typical purpuric rash of HSP in 14%-36% of cases [4,5]. A retrospective study analyzing the clinical and laboratory features in...

In Japan, there is as yet no report on growth retardation in children with IBD. We therefore investigated the cause of growth retardation in Japanese children with IBD. We investigated the height, body weight, serum levels of albumin, IGF-I, CRP, and cytokines, and the amount of corticosteroid administered in children with Crohn's disease (CD, n = 15) and ulcerative colitis (UC, n = 18). Our results suggest that growth retardation is already present before the initial visit in children with CD, and chronic inflammation may be responsible this growth disturbance. Moreover, the amount of PSL used may contribute to growth retardation by decreasing the serum levels of IGF-I in children with IBD.

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