Al Jalila Foundation

Autoimmune polyendocrinopathy syndrome type 1 (APS-1) is a rare autosomal recessive disorder caused by pathogenic variants in the AIRE gene and classically characterized by the triad of hypoparathyroidism, chronic mucocutaneous candidiasis, and adrenal insufficiency. Although hypoparathyroidism is often the earliest manifestation, isolated and prolonged monosymptomatic presentations remain uncommon and may delay recognition of the syndrome. We report the case of a child who was first presented at four years of age with severe hypocalcemia in the setting of acute gastroenteritis and was diagnosed with hypoparathyroidism. Apart from hypomagnesemia and hyperphosphatemia, extensive workup revealed no additional autoimmune or endocrine abnormalities. Genetic testing subsequently identified a homozygous likely pathogenic stop-loss AIRE gene mutation, confirming APS-1. Over a three-year follow-up period, the patient remained clinically stable with well-controlled hypoparathyroidism, except for hypocalcemic episodes during diarrheal illnesses, and persistently normal adrenal, thyroid, pancreatic, and celiac screening. The first additional disease feature emerged three years after the initial presentation, at the age of seven years, when a fungal nail infection consistent with mucocutaneous candidiasis was noted. This case highlights the marked phenotypic variability with delayed evolution of APS-1 and underscores that isolated hypoparathyroidism, even when severe, may precede other disease components by several years. Early genetic testing in children with apparently isolated hypoparathyroidism allows anticipatory guidance, structured surveillance, and timely recognition of evolving autoimmune manifestations.

Simple febrile attacks are common in young children and are typically benign. However, complex febrile seizures are characterized by recurrence, focal features, or longer duration and require assessment to determine underlying causes, such as metabolic issues like hypocalcemia. Vitamin D deficiency rickets, a preventable yet re-emerging disease, can also present with seizures.We report a previously healthy, exclusively breastfed eight-month-old boy who developed three episodes of general tonic seizures, initially thought to be triggered by an upper respiratory infection. Further workup revealed hypocalcemia (total calcium of 6.8 mg/dL, ionized calcium of 0.91 mmol/L), severe vitamin D deficiency (25-hydroxyvitamin D of 3.5 ng/mL), low phosphate, elevated alkaline phosphatase, and a high serum parathyroid hormone level, all indicative of nutritional rickets. Other factors that may have contributed to the worsening of his ionized calcium included mild respiratory alkalosis. The patient was treated with IV calcium gluconate, followed by maintenance oral calcium and vitamin D. After the correction of hypocalcemia, he had no further seizures and was discharged.This case underscores the importance of monitoring ionized calcium and vitamin D levels in an exclusively breastfed infant who presents with complex febrile seizures. The sudden decline in ionized calcium, leading to seizures in a susceptible patient, along with fever-induced alkalosis, could be the triggering factors. Prompt diagnosis and appropriate treatment can reduce the risk of neurologic complications from nutritional rickets, thus improving the outcome.

Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic control of breathing caused predominantly by paired-like homeobox 2B (PHOX2B) mutations and frequently accompanied by broader autonomic dysfunction affecting cardiovascular, gastrointestinal, and endocrine systems. We report a four-month-old female with genetically confirmed PHOX2B polyalanine repeat expansion (c.726_764dup; p.Ala248_Ala260dup; 33 repeats) who developed recurrent, symptomatic postprandial hypoglycemia after transitioning from continuous enteral feeding to oral bolus feeds. Critical samples during hypoglycemia (blood sugar nadir 26 mg/dL) showed inappropriately elevated insulin and C-peptide with suppressed ketones and appropriate cortisol and growth hormone (GH) responses, while metabolic work-up was otherwise unremarkable. The pattern supported reactive postprandial hyperinsulinemic hypoglycemia due to autonomic dysregulation rather than congenital hyperinsulinism. Glycemic stability was achieved by reinstating slow, continuous feeds and avoiding rapid carbohydrate boluses; dextrose boluses precipitated rebound hypoglycemia. The case underscores an under-recognized endocrine manifestation of PHOX2B-related CCHS and highlights practical management-continuous/slow feeding, cautious use of dextrose, and multidisciplinary follow-up to maintain euglycemia during feeding transitions.

The Lifetech KONAR-MF ventricular septal defect occluder (MFO) is increasingly used for transcatheter perimembranous ventricular septal defect (pmVSD) closure. We aim to collect real-world data on patient outcomes and MFO performance in pmVSD cases. This was a nonrandomized, retrospective, multicenter, postmarketing clinical follow-up study of pmVSD patients implanted with the MFO device between 2018 and 2023. The primary endpoint was 6-month composite clinical success, defined as technical success (successful implantation and device retention at the end of the procedure), closure success (trivial or no residual shunt), absence of serious adverse events at 30 days, and no device removal or reintervention. Secondary endpoints consisted of technical success, procedural success (technical success and less than moderate residual shunt), closure success (clinically insignificant or absent residual shunt), and safety. Our cohort comprised 333 patients (51.4% male, 10.2% adults), with a median age of 4.6 [IQR, 2-10] years and a median weight of 17 [IQR, 11-32] kg. Baseline defect characteristics consisted of a left ventricular defect diameter of 8 [IQR, 7-10] mm, with 13.8% of patients having aortic valve regurgitation, 9.9% having an indirect Gerbode shunt, 10.5% having mild aortic valve prolapse, and 32.2% having subaortic rim deficiency. Closure via a retrograde approach was performed in 183 patients (55%). Technical success at procedure completion was 97.6%, and procedural success was 94.6%. Closure success at 6 months was 97.1%, while composite clinical success was 90.1%. Freedom from serious adverse events was 95.2% at 30 days. Freedom from device-related events was 96.8% at 6 months and 93.8% at 24 months. Risk factors for 6-month composite clinical failure were aortic valve prolapse (OR, 4.85; 95%CI, 2.07-11.39) and right ventricular defect diameter (OR, 1.41; 95%CI, 1.01-1.98). Transcatheter closure of pmVSD with the MFO device demonstrated feasibility, effectiveness, and safety in real-world settings.

Venovenous extracorporeal membrane oxygenation (VV ECMO) has become an increasingly preferred modality for respiratory support in neonates and infants under 10kg, driven by a growing recognition of its neurological safety advantages over venoarterial (VA) ECMO. Historically, VV ECMO was limited in this population due to small vessel size, anatomical constraints, and technical challenges in achieving stable high-flow access. Recent advancements, including the development of the Crescent Right-Atrial (RA) dual-lumen cannula and increasing adoption of multisite cannulation strategies, have significantly expanded VV ECMO feasibility in neonates and small infants. Institutional experiences now support the safety and efficacy of VV ECMO in this vulnerable group when performed with skilled teams and advanced imaging guidance. This review synthesizes current evidence, highlights evolving cannulation techniques, and presents innovative solutions aimed at improving outcomes for infants and children under 10kg requiring VV ECMO.

Perforated appendicitis causing mechanical small-bowel obstruction is rare in pediatric patients and can mimic common gastrointestinal illnesses, delaying definitive treatment. We report the case of a 3-year-old girl with 5days of nonbilious vomiting, diarrhea, and high-grade fever, initially managed as gastroenteritis. Ongoing abdominal distension and failed conservative management prompted plain radiographs showing dilated small-bowel loops and air-fluid levels. Subsequent magnetic resonance imaging revealed a periappendiceal abscess compressing the distal ileum at a transition point. Urgent laparoscopy, converted to a minilaparotomy, confirmed a perforated appendix with dense adhesions tethering the ileum, necessitating appendectomy, adhesiolysis, and peritoneal lavage. The patient's postoperative recovery was uneventful, with normalization of inflammatory markers and restoration of bowel function. This case highlights the importance of considering atypical appendicitis in prolonged gastrointestinal symptoms, the utility of magnetic resonance imaging in diagnosis, and the need for prompt surgical intervention to prevent serious complications.

Penetrating injuries to the gluteal region are rare in children and often pose a diagnostic and therapeutic challenge due to the proximity of vital pelvic structures such as the rectum, bladder, and major vessels. Injuries caused by common classroom supplies like pencils are uncommon, but their ability to penetrate deeply into the pelvis warrants high suspicion for visceral injury. Here, we report a case of an 11-year-old previously healthy boy who suffered a left-sided gluteal injury after unintentionally sitting on a pencil placed upright on a chair as a prank during school hours. Initial assessment showed a puncture wound without external bleeding or signs of peritonitis. Contrast-enhanced computed tomography (CT) of the pelvis revealed a linear foreign body measuring 12.4 cm in length passing through the ischiorectal fossa and appearing to penetrate the posterior rectosigmoid wall, with the tip located inside the lumen. Despite imaging suggesting rectal perforation, diagnostic laparoscopy and colonoscopy showed no mucosal injury, contamination, or any signs of perforation. The foreign body was successfully removed through the entry wound, and the patient was managed conservatively with intravenous antibiotics and close clinical monitoring. Postoperatively, he developed abdominal pain and elevated inflammatory markers, with ultrasound revealing a small retrorectal fluid collection that improved with ongoing conservative care. He fully recovered and remained asymptomatic on follow-up. The aim of the report is to highlight a rare case and underscore the importance of correlating imaging findings with surgical and endoscopic assessments in pediatric trauma and support a purposeful, minimally invasive targeted treatment approach in the absence of obvious perforation or systemic compromise.