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Background: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder with a range of physical manifestations that require regular evaluation, surveillance, and management. Central nervous system manifestations are the major cause of morbidity and mortality in TSC patients. Encephalopathy, which may be due to multiple etiologies, maybe seen sometimes in these patients. Clinical Description: We are sharing a series of three cases, presenting to us within a 6-month period with encephalopathy, who were admitted and treated by us. Etiologies were identified in all three cases with variable spectrum from nonconvulsive status epilepticus to autistic regression to valproate-associated hyperammonemia. Management: All three patients admitted with us were treated as per clinical guidelines for respective etiologies. All patients respond well to treatment and were discharged and are under regular follow-up. Conclusion: There are various etiologies for encephalopathy in a child with TSC. Therefore, thorough history, examination, and investigations should be carried out in every child with TSC to find out the likely cause of encephalopathy, and treatment should be initiated according to the underlying cause.

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Background: Neurotoxic snakebite (usually by the krait) presents with abdominal colic and chest pain as a common premonitory sign of envenomation. Being a nocturnal snake, the time of unprovoked painless biting is usually at night and the victims are individuals sleeping on the ground. Thus, history is usually not forthcoming. Snakebite causes morbidity (neuroparalytic, myopathic, vasculopathic, venom-induced consumption coagulopathy, cardiotoxic, nephrotoxic, etc.), and mortality if not given timely treatment with anti-snake venom (ASV), the only specific treatment. Clinical Description: We present four children from a rural background who were admitted successively over a month during the last rainy season. They initially became symptomatic with acute abdominal pain from midnight to early morning time and developed neuroparalytic manifestations within a few hours. On exclusion of other causes by clinical evaluation, we suspected snakebite envenomation though there was no witnessing of the event or evidence of fang bites. Investigations to rule out commonly associated organ dysfunction were ordered. Management: All children were given supportive therapy. Three cases required mechanical ventilation. The first two received ASV relatively late as the suspicion of snakebite was not considered initially. In the third case, the administration of ASV was early and the hospital stay was shorter. The fourth case received ASV at a peripheral health center and was referred in case he required ventilator support. However, his neuroparalysis did not progress to respiratory failure and he was discharged the earliest. Conclusions: Clinicians should consider snakebite in children belonging to rural areas who present with acute abdominal pain during the rainy season, and monitor for signs of neurotoxicity and other clinical manifestations of snake envenomation. A high index of suspicion should be kept, as definitive treatment with ASV results in early recovery without any sequelae, and reduces mortality.

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Background: Enamel-renal syndrome (ERS), is a rare autosomal recessive disorder involving family with sequence similarity 20 member A (FAM20A) gene. This unique syndrome is characterized by severe enamel hypoplasia, intrapulpal calcification, nephrocalcinosis, or nephrolithiasis. This case report highlights the early presentation and incidental detection of chronic kidney disease (CKD) in a young child with enamel defects. Clinical Description: A 10-year-old girl, with no significant past or family history, presented with delayed tooth eruption and abnormal shaped teeth. She was detected to have generalized gingival hyperplasia and multiple unerupted teeth. Suspecting amelogenesis imperfecta, she was screened for coexisting systemic conditions. On evaluation, abdominal ultrasound demonstrated bilateral nonobstructive nephrolithiasis. Further renal workup done showed an abnormal creatinine (stage 2 CKD) and mild metabolic acidosis. Reduced urinary citrate excretion with no evidence of hypercalciuria was noted on extensive urine assessment. Genetic testing revealed a novel pathogenic variant in FAM20A, confirming the diagnosis of ERS. Management: The child was initiated on citrate supplements, salt restriction, and adequate hydration. She was advised of dental interventions, including pulp therapy and full-coverage restoration of decayed teeth. The family was counseled about the need for close monitoring of growth, renal function, and progression of nephrolithiasis. Conclusion: Prompt screening for renal associations in oro-dental and systemic disease must be undertaken to ensure early detection of kidney disease and timely institution of appropriate treatment. In children diagnosed to have kidney involvement, the importance of regular follow-up with clinical, biochemical, and imaging modalities, even during adulthood, must be emphasized.

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Background: Childhood bullying is a widespread global public health problem that is associated with several adverse long-term physical and mental health problems. The present case report describes the successful implementation of an intervention that focused on improving the socio-emotional skills of a victimized child. Clinical Description: SP, an 8-year-old foster boy was being bullied by his peers at school. This led to him appearing distracted, easily frustrated, scholastic deterioration, and refusal to go to school. He was brought to us by his concerned parents for the evaluation and management. Psychometric testing revealed that the child did not have any intellectual impairment or symptoms of specific learning disability, behavioral, or mood disturbances. Management and Outcome: An intervention that focused on metaphors "bucket filling" (i.e., being kind and considerate), "bucket dippers" (i.e., being mean and hurtful words) was used, the lesson being that one must learn to keep the lid of their own bucket on, so that others cannot empty it. Multiple sessions were taken and assignments given in which the parents were actively involved with the child. After 2 months, the child was better adjusted at school and had made a new friend. The bullying too had declined. Conclusions: Pediatricians need to be able to recognize the symptoms that could indicate bullying. Once recognized, appropriate referrals should be made to competent professionals. Early childhood programs that foster socio-emotional learning using novel strategies are beneficial.

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Background: Renal cell carcinomas (RCCs) are rare in children, accounting for around 2% of all pediatric renal tumors. Paragangliomas are extra-adrenal locations of phaeochromocytomas. They originate from chromaffin cells arising along the sympathetic paraganglia and are secretory in most cases. Sequential imaging is often required to ascertain the etiology of a renal mass; ultrasound (USG), contrast-enhanced computerized tomography scan (CECT), and magnetic resonance imaging (MRI). Tissue diagnosis is confirmatory. Clinical Description: An 11-year-old girl presented with a right-sided abdominal and flank pain that was dull aching and nonradiating. She had no history of jaundice, hematuria, dysuria, bowel symptoms, sweating, palpitations, or syncope. The vitals were stable, without tachycardia or hypertension. No abnormal findings were found on clinical examination. Initially, the possibility of a renal stone was considered. Management and Outcome: Baseline blood tests were normal. Abdominal USG detected a heterogeneous mass in the right kidney. CECT ascertained that it was very vascular and exhibited contrast enhancement, suggesting a renal tumor. MRI showed that the right renal artery was acting as the feeding vessel to the tumor. RCC was suspected based on imaging. The vascular nature prevented us from performing a Tru-cut biopsy. A right-sided nephrectomy was planned, preceded by angiography and embolization of the right renal artery to reduce vascularity. Intraoperative episodes of hypertension were noted. Gross appearance suggested RCC; however, histopathology revealed evidence of an intrarenal PGL. Conclusions: Diagnosing a nonfunctional PGL in an asymptomatic patient is challenging and may only be possible by intraoperative histopathology.

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Background: Congenital diaphragmatic hernia (CDH) of the left side may clinically manifest as chronic wheezing or gastrointestinal reflux disease in older children. Misdiagnosis of CDH is common in later age groups. Case Description: An 11-year-old boy presented to the outpatient department with a history of intermittent cough for 2 years and acid reflux. He was treated with a case of bronchial asthma and received symptomatic treatment for the same, but he continued to have symptoms without much relief. On examination, he was found obese with no signs of respiratory distress. On auscultation, there were reduced breath sounds in the left inframammary, infra-axillary, and infrascapular region with a normal examination of other systems. Management: The chest X-ray was suggestive of heterogeneous opacities engulfing more than half of the left hemithorax in the middle and lower zone of the left lung area with nonvisualization of the left dome of the diaphragm and the presence of abdominal gas shadows in the opacity. Considering the possibilities of diaphragmatic hernia or eventration, high-resolution computed tomography of the thorax was done, and left-sided Bochdalek hernia was confirmed. The child underwent surgical repair uneventfully and was discharged home with no complications. Conclusion: An adolescent boy has a late diagnosis of left-sided CDH. Considering the wide spectrum of clinical presentation, a high index of suspicion is crucial for the diagnosis of CDH since it might develop into a life-threatening condition. An excellent prognosis can be achieved with early diagnosis and effective therapy.

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Background: Hereditary spherocytosis (HS) is characterized by spherocytes on the peripheral smear and heterogeneous clinical presentation (mild, moderate, moderate/severe, and severe) depending upon the severity of hemolytic anemia, jaundice, and splenomegaly. The underlying cause is defects in various red blood cell membrane proteins due to pathogenic mutations. Genotype-phenotype correlation is known. Clinical Description: We report a consanguineous family with a healthy daughter, multiple pregnancy losses due to fetal hydrops, and the current daughter. She was diagnosed with fetal anemia at 22 weeks gestation, developed fetal hydrops, was born premature and developed respiratory distress, severe anemia, severe jaundice, and postnatal hemolysis. Management: The case was managed since intrauterine life till date by multispecialty coordination. Intrauterine transfusions were given during pregnancy. In the neonatal period, she received surfactant for respiratory distress syndrome, double volume exchange transfusion and phototherapy for the jaundice, and repeated blood transfusions for the hemolytic anemia, that is still continuing. Rational and sequential investigations were planned and a systematic approach used. She was diagnosed with severe HS due to a homozygous likely pathogenic variant in the SPTA1 gene (affecting formation of spectrin), and heterozygous variant of uncertain significance in the ANK1 gene (that encodes ankyrin). At 3 years she has transfusion dependent hemolytic anemia, moderate splenomegaly, and age appropriate growth and development. Conclusions: HS is a rare but manageable (albeit challenging) cause of nonimmune hydrops fetalis. Genetic diagnosis allows precise management and family counselling.

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Background: Encephalopathy associated with autoimmune thyroid disease (EAATD) is an uncommon disorder affecting the central nervous system and associated with autoimmune thyroid disorders. It has myriad manifestations. Although most commonly seen with Hashimoto's thyroiditis, it has also been reported with Graves' disease. As it has no pathognomonic features (apart from response to steroids), it is a diagnosis of exclusion, and can be very challenging for the clinician. Clinical Description: An 11-year-old girl presented with a fever and altered sensorium for a few hours. In-depth history was unable to identify any significant history apart from recent weight loss. Salient examination findings were severe thinness, tachycardia, an enlarged thyroid gland, and altered sensorium, but the absence of neurological deficit, meningeal involvement, and increased intracranial tension. The clinical phenotype was acute encephalitis syndrome. Investigations ruled out biomarkers of infection, metabolic acidosis, hypoglycemia, dyselectrolytemia, uremia, hepatic dysfunction, and diabetic ketoacidosis. Neuroimaging was normal. Cerebrospinal fluid abnormalities were lymphocytosis, high protein, and normal glucose. A thyroid function test identified hyperthyroidism. Doppler ultrasonography revealed a diffusely enlarged and hypervascular thyroid gland. Thyrotropin-receptor antibodies were elevated (>10 IU/L). The final diagnosis was EAATD secondary to Graves' disease. Management and Outcome: Intravenous methylprednisolone (30 mg/kg/day), antithyroid drugs, and beta-blockers were started, on which she showed rapid and marked improvement. Conclusions: A detailed history, diligent clinical examination, and rational systemic approach needs to be undertaken to establish a diagnosis of EAATD.

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Background: Miller Fisher syndrome (MFS) is a rare condition in childhood, characterized by acute-onset ataxia, ophthalmoplegia, and areflexia. It is mostly preceded by viral and bacterial infections, and the pathogenesis is speculated to be an immune response to cross-reacting antigens. We describe a case of acute ataxia which was initially misdiagnosed as antihistaminic toxicity and later emerged to be MFS. Clinical Description: A 4.5-year-old girl presented with acute-onset ataxia, giddiness, and limb pain, following toxic ingestion of an antihistaminic drug (chlorpheniramine) that had been prescribed for an upper respiratory infection. The absence of waning symptoms, new manifestations, and undetectable drug levels prompted us to consider an alternate diagnosis. Management: Magnetic resonance imaging of the cranium and spine was unremarkable. Hence, a central nervous system infection was considered. Cerebrospinal fluid (CSF) analysis revealed albumin-cytologic dissociation, a negative viral panel, and sterile culture. Serum anti-GQ1b antibody of immunoglobulin G type was positive. A nerve conduction study revealed absent H-reflexes in both gastrocnemius muscles. A diagnosis of MFS was made based on clinical features, CSF albumin-cytologic dissociation, positive anti-GQ 1b antibody, and absent H reflexes. She was treated with intravenous immunoglobulin therapy, following which there was an improvement in 1 week and complete recovery within 3 months. Conclusion: Although a rare entity, we need to consider MFS in the differential diagnosis of ataxia when the neurological signs persist beyond the expected time duration so that investigations can be planned accordingly and timely immunotherapy initiated.

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Background: Sepsis is a state of systemic inflammation due to an infectious etiology that may lead to multisystem dysfunction, hemodynamic instability, and even death. It has been postulated that there may be an underlying immunomodulatory process resulting from rapid and exaggerated activation of macrophages that results in a cytokine storm and the development of macrophage activation syndrome (MAS). Adding immunomodulation to standard therapy (antibiotics and supportive care) can improve the prognosis. Clinical Description: We present a series of three young children who presented with the clinical features of sepsis. All three showed poor clinical response to management with timely antibiotics and supportive care, even after 48–72 h of initiation. In addition, there was the development of thrombocytopenia and transaminitis. The suspicion of MAS prompted us to order ferritin, triglyceride, and fibrinogen levels and applies the 2016 diagnostic criteria for MAS. These were satisfied, thus establishing the diagnosis. Management: In all three cases, immunomodulatory agents (intravenous immunoglobulin with or without pulses of methylprednisolone) were added, after which there was a clinical improvement, normalization of biomarkers, and complete recovery. Conclusion: Early immunomodulatory therapy, in addition to antibiotics, is beneficial in the successful treatment of children presenting with sepsis-induced MAS, thus preventing further morbidity and mortality and improving outcomes.

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Background: Plasma factor XIII is a proenzyme that gets activated in the final step of the coagulation cascade. Its physiological role is to stabilize clot formation by catalyzing the cross-linkage of fibrin. Factor XIII deficiency is a rare autosomal recessive disorder. Clinical Description: A 10-year-old boy presented with acute-onset swelling of the arm following a minor fall. There were no constitutional symptoms. There was a significant history of similar swellings 2 years earlier that had required surgery. The past and family history were otherwise noncontributory. The child was hemodynamically stable. Local signs suggested a hematoma or tumor. There was no pallor, icterus, petechiae, or ecchymosis. The remaining examination was normal. Provisional diagnoses included nonaccidental trauma or an underlying primary or secondary bleeding diatheses, tumor, or chronic osteomyelitis. Management: Soft-tissue ultrasonography showed a hematoma. The radiograph was normal. Hemograms, first-line tests for coagulopathy, infective biomarkers, and liver and kidney function tests were normal. There were no stigmata of neglect or physical/emotional abuse in the child. Since the clinical phenotype was of a bleeding disorder, but supportive investigations were inconclusive, we suspected factor XII deficiency. Specific levels showed zero activity. Fresh frozen plasma was administered due to the nonavailability of factor XIII. The hematoma was managed surgically. The child was discharged after genetic counseling and is receiving monthly cryoprecipitate. He is asymptomatic till now. Conclusion: Factor XIII deficiency should be suspected when there are clinical indicators of a bleeding diathesis, but supportive tests are not deranged.

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Background: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an auto-immune encephalitis with prominent neuropsychiatric manifestations that may be paraneoplastic. Clinical Description: A teenage girl presented with an acute illness of 4 days with symptoms of generalized weakness of all four limbs, behavioral abnormalities, and a generalized convulsion. On examination, the child was hemodynamically stable and disoriented to time, place, or person. There was the loss of recent memory. The remaining neurological and systemic examination was normal. The differential diagnoses considered were toxic or metabolic encephalopathy, neurological Wilson's disease, acute intermittent porphyria, autoimmune encephalitis, and neuropsychiatric systemic lupus erythematosus. Investigations were planned for the causes that could not be excluded by history, examination, and baseline investigations. Salient reports were normal brain magnetic resonance imaging (MRI), nonspecific electroencephalogram abnormalities, and absence of pleocytosis and biochemical abnormalities but positive anti-NMDAR antibodies in the cerebrospinal fluid. A right adnexal cystic solid mass was identified in the abdominal ultrasound with the radiological appearance of an ovarian teratoma or germ cell tumor on MRI. Alpha-fetoprotein levels were raised. Management: The patient underwent right salpingo-oophorectomy. The histopathological diagnosis was an immature ovarian teratoma. The patient received first-line and then second-line immunotherapy (when there was no response), as well as chemotherapy. Signs of improvement appear after 6 weeks, with complete recovery within 6 months. Conclusion: Pediatric ovarian teratoma-associated anti-NMDAR encephalitis is rare, but neuropsychiatric symptoms should prompt the clinician to think of this diagnosis in girls. Early treatment is associated with a good prognosis.

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