JPGN Reports最新文献

Thrombocytopenia absent radius (TAR) syndrome is a rare genetic disorder that has been associated with food protein-induced allergic proctocolitis and transient leukemoid reactions, among other manifestations. There has been no prior reports of its association with autoimmune disease, more specifically, autoimmune hepatitis (AIH) or the development of pediatric acute liver failure (PALF). We present a case of an 8-month-old infant with TAR syndrome who presented with PALF, secondary to AIH with elevated liver-kidney microsomal antibody (>1:2560). She received a liver transplant and had a very complicated postoperative course including severe T-cell-mediated rejection, infection, biliary stricture, persistently elevated liver-kidney microsomal antibodies, and antibody-mediated rejection. Ultimately, these complications led to graft failure, severe sepsis, and death. This case highlights a new association of TAR syndrome with AIH and PALF and a potentially aggressive nature of AIH both pre- and post-transplant.

Reactive eosinophilia is associated with inflammatory bowel disease and is more common in patients with ulcerative colitis (UC) compared with Crohn's disease. The prevalence rate of peripheral blood eosinophilia in patients with inflammatory bowel disease has been described to be as high as 30%-40% of patients in a pediatric study. The coexistence of hypereosinophilic syndrome (HES) and UC is uncommon. We present a 15-year-old boy with UC associated with HES who presented with chest pain and shortness of breath. Laboratory evaluation showed marked eosinophilia. Alternative causes of eosinophilia including eosinophilic leukemia, infections, or drug-induced eosinophilic pneumonia were ruled out. The patient was ultimately diagnosed with HES responsive to mepolizumab.

Mammalian meat allergy is a delayed immunoglobulin E (IgE) mediated hypersensitivity reaction to galactose-alpha-1,3-galactose (alpha-gal). Alpha-gal is an oligosaccharide present on glycoproteins and glycolipids of nonprimate mammals as well as biologic agents prepared using mammalian cells including infliximab. We describe a pediatric patient with Crohn's disease who developed urticaria and pruritus roughly 6 hours after her very first infliximab infusion that progressed to chronic urticaria following subsequent infliximab infusions. She was diagnosed with mammalian meat allergy based on an elevated serum IgE level directed against alpha-gal. Her symptoms resolved once infliximab infusions were discontinued and did not recur after commencing therapy with adalimumab.

Intractable pruritus is one of the most prominent and debilitating features of Alagille syndrome. Maralixibat is the first US Food and Drug Administration-approved drug for the treatment of cholestatic pruritus in children with Alagille syndrome aged 3 months and older. Clinical trials of maralixibat have reported follow-up to 4 years and reported a ≥1-pt reduction using the Itch-Reported Outcome (Observer) (ItchRO[Obs]) instrument (0-4 scale), as this decrease was previously defined as a clinically meaningful improvement in pruritus; participants in clinical trials were expected to be maintained on stable doses of antipruritic agents. We report on a patient with 3 notable features: (1) complete resolution of her pruritus; (2) durability of this response for over 7 years; and (3) ability to discontinue all other antipruritic medications.

Autoimmune pancreatitis (AIP) is rare cause of abdominal pain in children who often present with obstructive jaundice, mimicking malignancy. An investigation of clinical symptoms, serology, imaging, and histopathology is necessary for diagnosis. We report a 10-year-old female presenting with abdominal pain and jaundice, ultimately found to have AIP after confirmation with tissue pathology. Our patient's prompt response to corticosteroid initiation is characteristic of this disease state. AIP has 2 subtypes, the second of which is more frequently found in children. Our patient's pathology did not fit perfectly with either subtype, but had features found in each one. While diagnostic criteria for AIP have not established in pediatrics, our case highlights the combination of clinical symptoms, imaging, and histopathology that children classically present with. While rare, the diagnosis of AIP is associated with comorbidities and must be considered in any child presenting with a pancreatic mass or biliary stricture.

There is growing interest among patients about the specific carbohydrate diet (SCD) as a treatment for Crohn's disease. In the meantime, deep remission in patients using SCD as their sole treatment has not been documented. We report a case with perianal and ileocolonic Crohn's disease in whom SCD monotherapy successfully induced and maintained not only clinical, but also endoscopic, radiographic and histologic (ie, deep mucosal remission) remission as well.

Background: There are very few reports of Wolfram syndrome-2 (WFS2) in the literature, and understanding of involvement of the gastrointestinal (GI) tract in the syndrome is limited. Objectives: This study aims to describe the clinical presentations of a large number of WFS2 patients with specific focus on their GI manifestations.

Methods: This is a retrospective case series study. Patients who were homozygous for the CISD2 gene mutation were identified through the genetic department of Al-Makassed hospital. Their medical records were reviewed, and biometric data have been obtained. The data were collected and arranged on a data sheet, and descriptive analysis was done using SPSS.

Results: Thirteen patients from 9 families were identified; diabetes mellitus was present in 6 of them, optic atrophy in 5, diabetes insipidus (DI) in 5, and deafness in 2. All of the patients had GI manifestations with abnormal findings on upper endoscopy. Dysmorphic facial features and abnormal findings on brain MRI were present in 3 of our patients. The GI manifestations including GI bleeding and severe ulcerations were the first to appear in 9 of them, while anemia in the remaining 4.

Conclusion: This is the largest study to date describing patients with WFS2. This study's evidence shows the prominent presence of GI involvement, and the severe findings on endoscopy, including duodenal, gastric, and esophageal ulcerations and strictures. Unlike in the Jordanian report, some of the patients in our report also have DI.

Gastrointestinal xanthomas are benign, usually sessile, polypoid lesions occasionally incidentally seen in adults, usually in the stomach, but have not been reported in the large intestine in children. We identified xanthomas in the sigmoid colon of the 15-year-old girl confirmed histologically. Our findings suggest that colonic xanthomas may occur as an incidental finding in pediatric patients. They have a characteristic visual and histologic appearance but do not appear to be associated with any symptoms or illness and do not require follow-up.

Agenesis of the dorsal pancreas (ADP) is a rare congenital anomaly that occurs when the body and tail of the pancreas fail to develop from the dorsal bud in utero. ADP may be discovered when evaluating conditions arising from the anomaly, such as diabetes mellitus, pancreatitis, and pancreatic insufficiency, but is more commonly found as an incidental finding. To date, fewer than 120 cases have been reported in the literature. We report a 6-year-old male who was found to have ADP on computed tomography during the investigation of abdominal pain and vomiting. We review the variable presentation, genetic mutations, and age-related differences between children and adults with this rare condition.

Bardet-Biedl syndrome (BBS) is an autosomal recessive multisystem nonmotile ciliopathy. There are anecdotal reports of the co-occurrence of BBS and autoimmune diseases, including inflammatory bowel disease (IBD). We present the first case report of a child with BBS7 who developed Crohn disease, adding to the evidence on the association between BBS and IBD. A 13-year-old girl with BBS7 presented with abdominal pain and significant weight loss (-13%), but without other classical symptoms of IBD, such as diarrhea and blood loss. Fecal calprotectin was elevated, but on gastroscopy and colonoscopy, no macroscopic abnormalities were found. Ultrasound and MRI revealed an intestinal stenosis which was treated surgically. Histopathological examination confirmed the diagnosis Crohn disease. In conclusion, the reported co-occurrence of BSS and autoimmune diseases and the atypical presentation of IBD in this patient warrant a low threshold to perform diagnostic tests for IBD in patients with BBS and gastrointestinal symptoms.