Clinical characteristics and liver profiles of Dubin-Johnson syndrome in neonates: Multicenter retrospective study.

OBJECTIVES: Dubin-Johnson syndrome (DJS) is a rare benign autosomal recessive disorder characterized by cholestasis in neonates. The aim of the present study was to describe the clinical characteristics, hepatic profiles, histopathology, gene mutations, and treatment outcomes of neonatal DJS. MATERIAL AND METHODS: A multicenter retrospective study was undertaken with patients who had DJS. The authors identified DJS in neonates and reviewed medical records for details. The diagnosis of DJS was based on the presence of unexplained prolonged conjugated hyperbilirubinemia and presence of a mutation in the ATP Binding Cassette Subfamily C Member 2 (ABCC2) gene detected in genomic DNA extracted from circulating blood cells. RESULTS: Eleven children with DJS were identified in the study. The study population comprised eight males and three females. The median age at presentation was 21 days. Dysmorphic features were not recorded in any of the patients. Cholestasis, high serum bile acids, and normal transaminase levels were found in all patients (100%). Serum alkaline phosphatase and gamma glutamyl transferase were elevated in four patients (36%). Hypoalbuminemia and coagulopathy were not noted in these patients. Consanguinity was present in nine patients (82%). All patients had normal abdominal ultrasound findings. Genetic molecular testing showed that 82% of the patients reported a pathogenic variant of the ABCC2 gene defect with the same variant c.2273G>T (Gly 758 val) chromosome 10. All patients were alive without liver transplantation. CONCLUSIONS: This is the largest study worldwide describing that neonatal DJS is a benign cholestatic disease with favorable outcomes. Low-grade direct hyperbilirubinemia, normal transaminases, and elevated serum bile acids are the main characteristic findings of DJS.

Clinical presentation of inflammatory bowel disease in Saudi children (Single centre experience).

BACKGROUND AND OBJECTIVES: Inflammatory bowel disease (IBD) includes Crohn's disease (CD), ulcerative colitis (UC), and indeterminate colitis (IC). IBD is a disorder characterized by chronic inflammation of the gastrointestinal tract with frequent relapse and remission courses. There is limited information regarding this disease in Saudi children, despite a rising worldwide incidence of IBD. We aim to study the clinical and demographic characteristics of Saudi children diagnosed with IBD at time of presentation. diagnosis, disease localization, and growth of pediatric IBD patients were compared with international data. PATIENTS AND METHODS: In this retrospective study, charts of all children under the age of 14 years who were diagnosed with IBD and received follow-up at King Faisal Specialist Hospital and Research Centre (KFSHRC) from January 2001 to December 2011 were reviewed. RESULTS: Sixty-six children were diagnosed with IBD; 36 (54.5%) had Crohn's disease (CD), 27 (41%) had ulcerative colitis (UC), and 3 (4.5%) had indeterminate colitis (IC). A male predominance was demonstrated in both CD (61%) and UC (56.6%). The mean age at diagnosis was 9.3, 7.3, and 7.5 years in CD, UC and IC, respectively. A positive family history was found in 19.7% of all patients. The most common presenting symptoms were diarrhea (89.4%), rectal bleeding (75.8%), and abdominal pain (62%). The most common site affected in CD was the ileocolonic region (41.6%) while pancolitis was predominant in UC (74.1%). CONCLUSIONS: CD is the most prevalent form of IBD in Saudi children. Male predominance and a high rate of growth failure were documented in children with CD. Clinical presentation, family history, and disease localization are comparable to international data.

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

We retrospectively reviewed 19 patients (11 male, 8 female) with infantile systemic hyalinosis (ISH) seen at a tertiary care hospital. Fifteen patients (83.3%) presented in the neonatal period. The referral diagnosis was inaccurate in 14 patients (73.7%). Thirteen patients were products of first-degree cousin marriages (68%) and 5 families had more than one affected child. All patients had painful joint contractures and typical mucocutaneous changes (hyper-pigmented sclerodermatous skin over the knuckles and malleoli, gingival hyperplasia, subcutaneous and perianal fleshy nodules). Growth failure was noted in all of them and 39% had profuse diarrhea, 72% had low serum albumin. Radiological findings included osteopenia, periosteal reaction and osteolytic lesions. Tissue biopsy was consistent with the diagnosis in the 8 patients who had the biopsies. Despite aggressive management with physiotherapy and different medications (including NSAIDs, penicillamine and methotrexate), the disorder was progressive and none of them showed improvement. 16 patients died with a mean age of 11 months and only 3 are alive with a mean age of 20 months. This report represents the largest series of ISH. Our data suggests that ISH is a commonly diagnosed disorder in Saudi Arabia and among Arabs.