Granulomatous hepatitis in a Saudi child with IL2RA defect: a case report and literature review.

Interleukin-2 receptor alpha (IL2RA) defect (OMIM- # 606367) is an immune disease where affected patients are vulnerable to developing recurrent microbial infections in addition to lymphadenopathy and dermatological manifestations. This condition is known to be caused by pathogenic variants in the IL2RA gene, which are inherited in an autosomal recessive fashion. In this case report, we present a patient with IL2RA defect from Saudi Arabia who presented with chronic diarrhea, poor weight gain, mild villous atrophy, malnutrition, hepatomegaly, nonspecific inflammation, and an eczematous skin rash. His genetic analysis revealed a novel, homozygous, and likely pathogenic variant, that is, c.504 C>A (Cys168Ter), located in the exon 4of the IL2RA gene, which was inherited from his parents in an autosomal recessive mode of inheritance. This variant produces a 272-amino-acid shorter IL2RA protein chain, which most likely becomes degraded in the cytosol. Thus, we assume that the c.504 C>A is a null allele that abolishes the synthesis of IL2RA, malforms the IL-2 receptor complex, and eventually causes immunodeficiency manifestations. To our knowledge, this is the first time a person with IL2RA defect has shown signs of granulomatous hepatitis on a liver biopsy.

Solitary rectal ulcer syndrome in children and adolescents: a descriptive clinicopathologic study.

Solitary rectal ulcer syndrome (SRUS) is an uncommon disorder of the rectum. While benign, it can cause concern for patients and affect quality of life. Reported studies on SRUS worldwide are scarce. The aim of this study is to describe the clinicopathologic characteristics of SRUS in a cohort of children based in Saudi Arabia. In this study, children with a confirmed diagnosis of SRUS at King Abdulaziz University Hospital (KAUH) were included, during the period November 2003 to November 2017. Data were collected from hospital medical records. The study comprised twenty-one patients: 17 males (81%) and 4 females (19%); the median age was 11.4 years (range, 5.43-17.9 years). The most common presenting symptoms were rectal bleeding in 21 patients (100%), passage of mucus in 16 (76.1%), abdominal pain in 14 (66.6%), constipation in 13 (61.9%), straining in 9 (42.9%), and rectal prolapse in 5 (23.8%). The most common finding at initial colonoscopy was a single ulcer in 7 patients (33.3%), multiple ulcers in 6 (28.5%), polypoid lesions in 5 (23.8%), and hyperemic mucosa in 3 (14.2%). All patients received medical treatment and 14 (81%) continued to manifest one or more of the symptoms following treatment, which required subsequent modification of the treatment course. None of the patients required surgery. In conclusion, the study found rectal bleeding to be the most common presentation, with a single ulcer being the most prevalent lesion in endoscopy. Treatment response was variable, but almost half of patients reported relief of symptoms following treatment.

Liver function changes following the introduction of a gluten-free diet in patients with celiac disease.

Aim of the study: Disturbance in liver enzymes is a well-described observation in patients with celiac disease (CD). We aim to describe the prevalence of all liver function abnormalities in CD and assess their response to a gluten-free diet (GFD). Material and methods: This is a retrospective cross-sectional study of all CD patients diagnosed from 2007 to 2020 in King Abdulaziz University Hospital, Jeddah. Demographic, biochemical, and histologic patient data were collected. Results: The study included 132 patients with CD. The median age was 9.5 years (range, 1-18 years). Males constituted 56.1% (n = 74) of the whole cohort. The most common associated morbidities were type 1 diabetes (33%), thyroid disease (15.7%), and Down syndrome (7.6%). Ninety-seven percent of patients were determined to have a severe form of CD (Marsh score 3). Aspartate aminotransferase (AST) was high in 38 patients (28.8%), while alanine aminotransferase (ALT) was high in 10 (7.6%). Two patients (1.5%) had elevated γ-glutamyl transferase (GGT) levels, and 2 patients (1.5%) had elevated AST, ALT, and GGT levels. Albumin levels were low in 29 patients (22%), while bilirubin levels were elevated in 1 patient. Introduction of a GFD resulted in improvement in ALT levels at 6 months, and improvement in albumin levels both after 6 months and 12 months. Conclusions: Transaminase and albumin disturbances are frequently found in CD, with the most common abnormality being elevated AST. A decreased ALT level is the most pronounced response to a GFD.