Abstract Background: Okur-Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant condition caused by pathogenic variants in the CSNK2A1 gene. Aspiration-related apneic spells can mimic seizures and delay diagnosis. Clinical Description: A 14-week-old girl with a 6-week history of feeding difficulty and cough was referred to our centre with a 1-day history of apneic spells and cyanosis after feeding. Birth history, antenatal and immediate postnatal periods were uneventful. Complete head control had not been achieved. At examination, the infant was in shock and cyanosed. There were no dysmorphic features, nor cleft palate. Management and Outcome: After intubation and other supportive therapy, she was started on levetiracetam. Cerebrospinal fluid analysis, brain imaging, electroencephalogram and echocardiography were noncontributory. Radionuclide milk scan showed gastro-esophageal reflux disease. Whole-exome sequencing identified a pathogenic heterozygous variant in CSNK2A1 , exon 8, confirming the diagnosis of OCNDS. The infant was started on naso-jejunal feeds, which significantly reduced coughing and episodes of cyanosis. Conclusion: OCNDS can present with reflux-related aspiration and apnoeic spells that mimic seizures. Early feeding-focused evaluation and timely genetic testing can prevent unnecessary antiseizure treatment and enable coordinated multidisciplinary care.
Abstract Background: Hemobilia due to nontraumatic etiology is a rare cause of upper gastrointestinal bleeding. Clinical Description: We report a 12-year-old boy who presented with severe right upper abdominal pain, yellowish discoloration of eyes, hematemesis, and black stools for 3 days. He had a similar episode 3 months ago. On examination, he was afebrile, with pallor, icterus, and circulatory shock. There was tenderness in the right hypochondrium but no organomegaly, shifting dullness, or dilated veins over the abdomen or back. Management and Outcome: After management of shock with fluids and blood transfusion, a contrast-enhanced computed tomography of the abdomen was done, showing active contrast leak into the gall bladder suggestive of hemobilia, likely due to a cystic artery pseudoaneurysm (CAP). The child underwent surgery with cholecystectomy and cystic artery ligation after confirmation with intraoperative upper GI endoscopy, with good recovery. The histopathology of the surgical specimen was suggestive of chronic cholecystitis, which may be the possible etiology of pseudoaneurysm. On follow-up, the child was doing good with no further episodes. Conclusion: CAP causing hemobilia needs a high clinical suspicion, relevant investigation, and urgent intervention for definitive management.
Abstract Background: Coagulase-negative staphylococci (CONS) are increasingly being recognized as significant pathogens. Staphylococcus sciuri , a novobiocin-resistant, oxidase-positive species associated with animals, can harbor mecA/mecC and cause severe infections. Community-acquired methicillin-resistant S. sciuri (MRSS) infection in immunocompetent children is exceptionally rare. Clinical Description: A healthy 15-year-old boy presented with high-grade fever, pleuritic chest pain, and progressive lower-lip edema with discoloration. On examination, he was febrile with tachypnea and a violaceous rash over the lip; he was normotensive without pallor. There was decreased bilateral air entry in the chest, without adventitious sounds. Management and Outcome: Initial investigations showed thrombocytopenia, raised hematocrit, transaminitis, and elevated C-reactive protein. Despite supportive care and adequate antimicrobial therapy, he developed worsening cellulitis, bilateral suppurative pleural effusions, and necrotizing pneumonia. Blood culture grew MRSS sensitive to teicoplanin. Contact with stray dogs suggested a possible zoonotic source. Even with culture-guided therapy, the clinical condition deteriorated, and computed tomography of the chest (day 9) revealed bilateral loculated effusions and cavitary nodules. Pleural fluid culture also reconfirmed MRSS resistant to all β-lactams. Finally, ceftaroline was initiated, and patient showed remarkable improvement within 96 h. Ceftaroline was continued for 14 days, followed by oral linezolid for 4 weeks. At 6-week follow-up, radiology and spirometry confirmed resolution. Conclusion: This case highlights one of the first pediatric reports of community-acquired MRSS septicemia with cellulitis, necrotizing pneumonia, and empyema in an immunocompetent adolescent. It further depicts successful salvage with ceftaroline, highlighting its potential in refractory CoNS/MRS-spectrum.
Background: Renal cell carcinoma (RCC) is rare in children, and extrarenal RCC is extremely uncommon, with very few cases reported. Atypical presentations pose a significant diagnostic challenge. Clinical Description: A 15-year-old girl who presented with multiple progressively enlarging scalp swellings. On evaluation, she was found to have multiple hard, nontender, fixed bony scalp lesions, left supraclavicular lymphadenopathy, and a firm epigastric mass. The overlying skin was normal, and there were no features of raised intracranial pressure. Management and Outcome: Blood investigations revealed a normal blood picture and tumor markers. Imaging revealed a retroperitoneal mass encasing the inferior vena cava and widespread bone metastases, while both kidneys were normal. Biopsy and immunohistochemistry of the supraclavicular lymph node confirmed translocation-type extrarenal RCC. She received sunitinib followed by lenvatinib, but therapy was complicated by skin discoloration, refractory thrombocytopenia, and thyroiditis. Conclusion: Extra-renal RCC in children is rare and may present with unusual manifestations. This case underscores the importance of considering metastatic malignancy in a child presenting with atypical scalp swellings, which could be due to extra-renal RCC.
Background: Systemic Capillary Leak Syndrome (SCLS) is a rare and life-threatening condition characterized by reversible plasma extravasation, hypotension, hemoconcentration, and hypoalbuminemia. Clinical Description: An 8-year-old girl presented with prolonged fever, vomiting, abdominal pain associated with progressive muscle weakness. Work-up before presentation to us had shown transaminitis and evidence of appendicitis with peritonitis on computed tomography. However, the child was referred due to associated unexplainable features such as generalized edema, limb weakness, hypertension and thrombocytopenia. Examination showed fever, pallor, anasarca, tachycardia with low volume pulses, reduced power and tendon reflexes, with generalized muscle tenderness, and a lacy cutaneous rash over upper chest. Management and Outcome: Investigations revealed neutrophilic leukocytosis, hypoalbuminemia, elevated liver enzymes, creatinine phosphokinase (19,690IU/L) and lactate dehydrogenase. Magnetic Resonance Imaging of thighs demonstrated diffuse myositis. Serology was positive for ANA and anti-Jo-1 antibodies, suggesting JDM with possible overlap syndrome. Despite methylprednisolone and fluid resuscitation, the child went into shock, acute kidney injury and fluid overload, necessitating mechanical ventilation and kidney support therapy. Following transient improvement with high-dose immunosuppression and intravenous immunoglobulin, she developed Acinetobacter pneumonia and remained ventilator dependent. She further developed disseminated aspergillosis, requiring intravenous voriconazole. Her prolonged PICU stay was complicated by critical illness myopathy and was transferred to another low-cost centre, but succumbed to pulmonary hemorrhage soon after. Conclusion: This case highlights the complexity of managing autoimmune disease complicated by SCLS. Early recognition, immunomodulation, and aggressive supportive care are crucial. However, prolonged immunosuppression increases the risk of opportunistic infections, often with fatal outcomes.
Background: Huntington’s disease (HD) is a neurodegenerative disorder characterized by dominant inheritance, choreoathetosis, cognitive decline, and psychiatric disturbances. Juvenile HD (JHD) is very rare, and only a few cases have been reported globally. Clinical Description: A 14-year-old girl was brought by mother with complaints of frequent falls, dropping of objects, involuntary jerks, and a significant deterioration in academic performance for the last 2 years. A significant family history of similar complaints were noted in five other family members spanning over three generations. On examination, her vital signs were within normal limits. Her intelligence quotient was 70, and she had a rigid and wide-stepping, ataxic gait with hypertonia with hyperreflexia. Management and Outcome: Magnetic resonance imaging showed atrophy of the bilateral caudate lobes leading to expansion of the frontal horn of the lateral ventricles and bilateral hyperintensities along the putamina. Fluorescent-labeled triplet repeat primed polymerase chain reaction for CAG (Cytosine, Adenine, Guanine) repeats in the Huntingtin gene showed triplet repeat size of 13 in allele 1 and 74 in allele 2, indicating that she was heterozygous and in disease range; hence, the diagnosis of Juvenile Huntington’s disease was confirmed. She was started on tetrabenazine, and the family was counseled regarding the prognosis. She is currently under physiotherapy. Conclusion: A neurodegenerative condition with onset in adolescence could be due to JHD. This case highlights the need for supporting and encouraging a family with a progressive neurological disorder to ensure a diagnosis is reached.
Background: Poncet’s disease, also known as tuberculous rheumatism, is a rare immune-mediated, nonerosive mono- or poly-arthritis associated with tuberculosis (TB) at an extra-articular site, without direct mycobacterial invasion of the joints. Pediatric cases are rare. Clinical Description: A 6-year-old girl presented with painful erythematous nodules over the lower limbs, followed by intermittent fever and tender swellings involving the knees and elbows, with no other constitutional symptoms, weight loss or anorexia. Examination confirmed erythema nodosum and restricted joint movements without effusion or deformity. Management and Outcome: Laboratory evaluation showed raised total leukocyte counts and elevated inflammatory markers with negative autoimmune markers. Ultrasound showed minimal synovial thickening of both knees and the right elbow, without effusion. Following a lack of response to antibiotics and sterile blood cultures, a chest X-ray was done, which showed left middle-zone opacity, confirmed as consolidation by computed tomography. Mantoux positivity in the face of such pulmonary findings and erythema nodosum made TB the most likely diagnosis. Antitubercular therapy (ATT) was started, followed by rapid and complete resolution of joint symptoms and skin lesions within 6 weeks. The arthritis was thus attributed to reactive tubercular rheumatism or Poncet’s disease. Conclusion: Poncet’s disease should be considered in children presenting with arthritis, not responding to conventional antibiotics, especially in TB-endemic regions. Early recognition of extra-articular TB and prompt initiation of ATT may result in rapid recovery, thus confirming Pnset’s disease.
Background: Wandering spleen (WS) is a rare clinical entity caused by the mobility of the spleen due to ligament laxity. Wandering spleen with torsion, especially in toddlers, is infrequent and rarely reported. Clinical Description: An 18-month-old boy presented with an acute onset of abdominal pain, nonbilious vomiting, and signs of dehydration. Physical examination was difficult, revealing tenderness in the left iliac fossa. However, no mass was palpable. The patient was admitted with a provisional diagnosis of acute gastroenteritis. The next day, the patient developed bilious vomiting. Management and Outcome: Ultrasound scan showed a cyst in the left iliac fossa. A computed tomography scan of the abdomen suggested an ectopic spleen with signs of torsion. Emergency laparoscopy revealed a large ischemic WS with 720° torsion. Despite laparoscopic detorsion, the spleen remained ischemic. After counseling the parents, a laparoscopic splenectomy was performed. The postoperative period was uneventful. The patient was discharged with penicillin prophylaxis and postsplenectomy vaccination. Histopathology of the specimen confirmed it as splenic tissue with multiple infarcts and a subcapsular abscess. The child remained well and asymptomatic throughout till 1-year follow-up. Conclusion: Wandering spleen with torsion is a rare but significant cause of acute abdomen in toddlers, requiring a high index of suspicion for diagnosis. Surgical management is tailored to the viability of the spleen. Laparoscopic management is challenging but feasible in toddlers.
Background: Colorectal carcinoma (CRC) is a major adult malignancy and remains exceedingly rare in the pediatric population, often diagnosed at advanced stages due to nonspecific clinical manifestations and subtle endoscopic findings. Signet cell adenocarcinoma, a rare histological variant, is associated with aggressive behavior, diffuse infiltration, early peritoneal spread, and poor prognosis. Clinical Description: An 11-year-old boy presented with massive abdominal distention, pain, weight loss, and occasional vomiting for 3 months without fever or blood in stools. Examination revealed significant malnutrition, pallor, ascites and inguinal lymphadenopathy, without hepatosplenomegaly. Management and Outcome: Imaging revealed diffuse circumferential thickening of the sigmoid colon and rectum with omental and peritoneal deposits. Colonoscopy detected a stony hard, indurated rectosigmoid lesion, and biopsy demonstrated poorly differentiated adenocarcinoma with signet ring morphology. Immunohistochemistry showed intact mismatch repair proteins, confirming an MMR-proficient tumor. Considering the child’s advanced disease stage and poor functional status, aggressive multimodality therapy was deferred. Repeated paracenteses for symptomatic relief and oral capecitabine chemotherapy were all that could be provided. Conclusion: This case underscores the importance of considering CRC in children with atypical gastrointestinal symptoms and doing appropriate investigations for early diagnosis.
Background: Du Pan Syndrome (DPS) (OMIM 228900) is a rare autosomal recessive skeletal dysplasia caused by variants in the GDF5 gene. It is distinguished by complex brachydactyly and fibular aplasia/hypoplasia, a type of acromesomelic dysplasia. Clinical Description: A term male neonate born out of third-degree consanguineous marriage, presented with abnormalities of the digits of the upper and lower limbs. Antenatal scans had detected soft tissue swelling around the second great toe. Examination revealed a length <10th percentile, normal weight, and head circumference, associated with necrosed right great toe. There was severe brachydactyly in all digits of the upper and lower limbs. Management: Radiographs confirmed fibular aplasia. Doppler evaluation on Day 1 showed absent arterial flow in the left great toe and normal vasculature in the proximal limbs. Both great toes underwent autoamputation. A homozygous mutation in the GDF5 gene c. 1322T>C(p.Leu441Pro) was discovered by whole-exome sequencing. The neonate was managed conservatively. Genetic counselling was provided to the parents. On follow-up, the infant had normal neurodevelopment with persistent brachydactyly. Conclusion: This case broadens the phenotypic spectrum of DPS by demonstrating a new vascular phenotype, suggesting the possible role of the GDF5 gene in angiogenesis.
Background: Hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency, an X-linked disorder of purine metabolism, is infrequently diagnosed in early infancy due to its nonspecific clinical manifestations. Clinical Description: We report a 42-day-old male infant, who presented with irritability, respiratory distress, and poor feeding. The infant, born with a birth weight of 2750 g, had a weight of 3200 g at presentation with tachypnea and minimal subcostal and intercostal retractions. He was irritable but consolable, and his neurological examination was essentially normal. Management and Outcome: Investigations revealed severe metabolic acidosis, deranged kidney function, markedly elevated serum uric acid (35 mg/dL), and transaminitis with ultrasound of the abdomen and kidneys showing normal-sized kidneys with bilateral medullary nephrocalcinosis. Kidney biopsy showed acute tubular injury with uric acid crystal deposition. Whole-exome sequencing identified a hemizygous likely pathogenic missense variant in the HPRT1 gene, confirming Kelley–Seegmiller syndrome, a partial form of HPRT deficiency. The infant improved with supportive care and urate-lowering therapy with allopurinol and is now on follow-up. Conclusion: Although infrequent, HPRT1-associated hyperuricemia should be considered in the differential diagnosis of an infant with impaired kidney function associated with hyperuricemia and metabolic acidosis. Prompt renal biopsy combined with genetic analysis is crucial for establishing an accurate diagnosis, optimizing treatment strategies, and providing appropriate genetic counseling.
