Pediatric Education and Research

Background: Infantile hepatic hemangioendothelioma/hemangioma (IHH) is the most common type of benign tumor of Liver, contributing to 12% of all childhood liver tumors. (1) It is a neonate’s common hepatic mesenchymal tumor, 90% being less than six months old. (1) The tumor is slightly more predominant in females. It may be asymptomatic or can cause serious complications like cardiac failure or coagulopathy. There is no treatment protocol established yet and increasing number of cases have been reported. There is a varied treatment options like pharmacological or interventional on the basis of the presentation. IHH is classified as a benign vascular tumor with spontaneous regression in some patients. Case presentation: Here is a 6 month old infant presented with Infantile colic and incidentally diagnosed to have IHH. Imaging like Ultrasonography and MRI confirmed the diagnosis. The child had an asymptomatic presentation and regressed with follow up. Conclusion: Increasing awareness about the condition needed for proper follow up. Early identification and prompt treatment is necessary to avoid fatal complications.

Background: Annular pancreas (AP) is a congenital disorder of the pancreas, thought to result from the malrotation of the ventral pancreatic bud. This causes the duodenum to be encircled by the pancreatic tissue, leading to duodenal obstruction. The management of annular pancreas is usually surgical. Clinical Description: A 10-month-old male infant presented with regurgitation of yellowish feeds for the past few months, with no other positive clinical findings. Radiological investigations revealed an obstruction after the first part of the duodenum. A barium swallow showed duodenal stenosis. The patient underwent surgery, and the diagnosis of annular pancreas was confirmed. Management and Outcome: After clinical and radiological diagnosis, the child was managed surgically and underwent duodenojejunostomy. Postoperatively, the patient remained clinically stable and is symptom-free. Conclusion: Annular pancreas is a rare but significant cause of duodenal obstruction, which can present from the neonatal period to adulthood. The patient may experience bilious or non-bilious vomiting. The definitive diagnosis is made via laparotomy. Surgical management is required, with duodenojejunostomy being the best treatment option.

Background: Apert syndrome is a genetic disorder inherited in an autosomal dominant manner, with an occurrence rate of about 15 cases per 100,000 live births. It is caused by a mutation in the fibroblast growth factor receptor-2 (FGFR-2) gene located on chromosome 10q26. The condition mainly impacts the first and second branchial arches, leading to the early closure of cranial sutures (craniosynostosis) with fusion of fingers and toes of the hands and feet. Apert syndrome is rare in India, and a case report is presented. Clinical Description: 21 months female toddler presented with global developmental delay along with distinctive craniofacial features. Clinically toddler exhibited an abnormal head shape and contour, characterized by turribrachycephaly, a depressed nasal bridge, frontal bossing, midface hypoplasia, and a characteristic “crossbow” appearance of the upper lip. Limb examination revealed symmetrical soft tissue syndactyly affecting all digits. Management & Outcome: This case is notable for its rarity and the similarity of its features to other craniosynostosis syndromes, such as Crouzon and Pfeiffer syndromes, posing a diagnostic challenge. Therefore, genetic counselling for the family was recommended, along with early intervention for the child, including plastic surgery for the affected limbs. Conclusion: Acrocephalosyndactyly is an autosomal dominant condition seen rarely, marked by craniosynostosis, craniofacial deformities, and pronounced symmetrical clubbing of fingers and toes of the hands and feet. In the majority of Apert syndrome cases, the condition occurs sporadically, often due to new mutations in the relevant gene.

Background: Hyperesinophilia (HES)with Hereditary angioedema (HAE), is a rare disease characterized by peripheral blood eosinophilia > 1500/mcl (> 1.5 × 109/L) persisting ≥ 6 months and the presence of end-organ damage. Hereditary angioedema is a lifelong illness characterized by recurrent swelling of the skin, intestinal tract, and, the upper airway. It results from insufficient activity of the C1-inhibitor protein, leading to disturbances in the kallikrein/bradykinin pathway. Case presentation: We reviewed a case of Hypereosinophilia with hereditary angioedema (HAE) in 7-year-old boy who was referred from another hospital in Coimbatore for further management. He had elevated absolute eosinophilic count & elevated IgE. Bone marrow aspiration and biopsy were done which showed increased eosinophil. Stool for ova/ cyst was negative. He was initiated on oral prednisolone (10mg), pantaprozole (20mg) & dexamethasone (50mg). Conclusion: Hereditary angioedema (HAE) is a genetic condition that poses a threat to life; this condition necessitates rapid diagnosis and treatment to control acute attacks and avert potentially lethal complications, especially when swelling impacts the airway, and can despite recent developments in treatment options, a child quality of life can be significantly affected.

Obstructions in the lower intestinal tract, specifically colonic and rectal atresias, are distinct conditions that share similarities but necessitate different surgical interventions. Most of our understanding regarding these malformations is derived from isolated Case Report and a limited number of comprehensive investigations. Rectal atresia is a rare congenital anomaly characterized by a normal anus but an obstructed rectum. Its cooccurrence with other digestive system abnormalities, particularly colonic atresia, is even less frequent. We present an unusual case in which rectal atresia is observed in conjunction with colonic atresia, which was not detected during the initial surgical procedure. Contrast enema revealed only 2 cm of the anal canal from the distal end. The infant underwent surgical intervention for rectal atresia via the posterior sagittal approach. An end-to-end anastomosis was performed following resection of the atretic segment. Postoperatively, the patient was maintained on a regimen of regular Hegar's dilatation. Rectal atresia with colonic atresia is an exceedingly rare anomaly with very few cases reported in the literature. Awareness of such coexistence may minimize further complications.