Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy

Infantile systemic hyalinosis [ISH] is a rare autosomal recessive disease. Typically, ISH patients present with progressive painful joint contractures, intractable diarrhea, hyperpigmented skin lesions, and perianal fleshy nodules. We report a case of a 19-month-old male child with atypical ISH presentation. His main clinical finding was protein-losing enteropathy due to intestinal lymphangectasia. This report is intended to enhance awareness about the gastrointestinal tract presentation of ISH

retrospective review of autoinflammatory diseases in Saudi children at a rheumatology clinic

Published data from Saudi Arabia regarding autoinflammatory diseases are scarce. In this study, we describe the clinical and laboratory features of autoinflammatory diseases in Saudi children. Restrospective, hospital-based study conducted from January 2010 until June 2010.Patients with autoinflammatory disease treated at the Pediatric Rheumatology Clinic at King Faisal Specialist Hospital and Research Center, Riyadh, over the past 10 years were included. Autoinflammatory diseases included the following: familial Mediterranean fever [FMF]; chronic recurrent multifocal osteomyelitis [CRMO]; early-onset sarcoidosis [EOS]; periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome [PFAPA]; chronic infantile neurologic cutaneous and articular syndrome [CINCA]; and Muckle-Wells syndrome [MWS]. Demographic characteristics, diagnosis, age at onset, disease duration, follow-up duration, clinical and laboratory variables, and outcome data were compiled. Gathered laboratory data were part of patients usual medical care. Thirty-four patients [females, 53%] with autoinflammatory diseases were included [mean age, 151 months]. Mean disease duration was 118 months; mean age at onset was 32 months; consanguinity was present in 40%. Patients were diagnosed as follows: FMF, 50%; CRMO, 23.5%; CINCA, 8.8%; EOS, 8.8%; MWS, 6%; and PFAPA, 2.9%. The referral diagnosis was inaccurate in all patients except for FMF patients. Gene study was informative in 9 of 14 FMF patients who had molecular analyses. None of our cohort had amyloidosis. All CRMO patients had a favorable response to treatment except 1 patient, who had refractory, progressive disease. All patients with EOS had multiorgan involvement, including uveitis. All CINCA patients had a favorable response to anakinra. Our report shows that autoinflammatory diseases other than FMF may be overlooked. Increased awareness among pediatricians about these conditions will help to provide better health care to patients in the form of early diagnosis and management

Gastrointestinal angiodysplasia in three Saudi children

Angiodysplasia is a term used to describe distinct gastrointestinal mucosal ectasias that are not associated with cutaneous lesions, systemic vascular disease or a familial syndrome. Seventy-seven percent of angiodysplasia are located in the cecum and/or ascending colon. Fifteen percent are located in the jejunum and/or ileum and the remainder are distributed throughout the alimentary tract. Most commonly, the angiodysplastic lesions are typically seen in elderly patients of both genders, although gastric and duodenal lesions have been reported occasionally in subjects within the third decade of life. However, data on infants and children are scarce. We describe three cases [ages 7 days, 2 years, and 5 years] who presented to our unit with gastrointestinal bleeding. One of these patients developed moderate-to-severe symptoms and was blood-transfusion dependent. She was misdiagnosed as having inflammatory bowel disease and underwent a total colectomy and ileoanal anastomosis. The other two patients were managed conservatively for up to 5 years with no further bleeding