A 27-yr-old man was referred for fever, weight loss, fatigue, and occasional mild epimesogastric pain without diarrhea or vomiting. Laboratory tests were suggestive of an active inflammatory disease but serological, bacteriological, viral searches, markers of autoimmunity, and neoplasia were all negative. The following were also negative: ultrasonography; conventional x-rays; CT scans; esophagogastroduodenoscopy, pancolonoscopy with ileoscopy; cytohistology including duodenum and ileocolon. Empiric antibiotic regimens failed to control the temperature. Small bowel enema disclosed multiple proximal jejunal strictures. Jejunoscopy revealed erythema, friability, linear ulcerations, stenosis, and dilation in the proximal jejunum. Multiple directed biopsies showed inflammatory changes devoid of any specific features. The patient received steroid treatment and his temperature normalized. Six months later, he was readmitted on account of intestinal subocclusion that was managed conservatively. A few days later urgent laparotomy was performed with peritoneal lavage, repair of double perforated proximal jejunal ulcers, and stricturoplasty. Surgical jejunal biopsy confirmed the results of enteroscopic biopsies. The patient is presently without fever, in the absence of steroid treatment. There have been no reports of cryptogenic fever due to isolated jejunal Crohn's disease in the recent literature. Our patient's clinical picture resembled disease as seen in older children and adolescents, in whom it is a difficult diagnosis owing to the absence of diarrhea. In adults with Crohn's disease isolated jejunal involvement represents approximately 1% of cases. A thorough small bowel investigation is warranted in young adults with cryptogenic fever and low serum protein levels, even in the absence of major gastrointestinal complaints.
Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We describe a new case of Donohue syndrome born at 37 weeks' gestation of unrelated parents and presented with intra-uterine growth retardation, nipple hypertrophy, macropenis, distended abdomen, hirsutism and dysmorphic features. The clinical course showed failure to thrive, and episodes of alternating hypoglycemia and hyperglycemia. Laboratory tests revealed direct hyperbilirubinemia. The diagnosis of Donohue syndrome was established based on the above clinical characteristics and determination of the INSR mutation. He was found to have homozygous nonsense mutation c. 2270 C>T (Arg924X) at exon 14 of the INSR gene. He later developed enterocolitis and died at 3 months old. Prenatal diagnosis was performed for the family via chorionic villous biopsy. We try to explain gastrointestinal dysfunction seen in our patient.
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