Background: Insulin edema is a rare complication that can occur following either initiation or intensification of insulin treatment in Type 1 diabetes mellitus (DM). It is an under reported condition. Awareness of this complication among physicians is important for early identification of this condition, and prompt initiation of treatment. Clinical Description: We present an 11-year-old girl with 2-month history of weight loss and 1-month history of polyuria and polydipsia who presented to us in moderate diabetic ketoacidosis. She developed anasarca and pulmonary edema 3 days after starting insulin. She also developed transaminitis a serum serum glutamic-oxaloacetic transaminase of 81 U/L and serum glutamic pyruvic transaminase of 83 U/L. A diagnosis of insulin edema was established after ruling out other causes like severe anemia, renal, cardiac and allergic causes. We also present a brief review of seven similar cases that we identified on a literature search. Management and Outcome: This included salt and fluid restriction along with diuretics. Edema resoled after 4 days of treatment, while transaminitis took 7 days to normalize. Conclusion: This case report highlights the importance of early recognition of the rare complication of insulin edema which can avoid unnecessary anxiety on the part of both treating physicians and parents of patients with Type 1 DM.

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Background: Lymphocytic interstitial pneumonia (LIP) is a rare disorder causing diffuse involvement of the lung parenchyma, including cystic changes. It is generally associated with autoimmune diseases in adults and human immunodeficiency virus infection in children. Concurrent LIP with pulmonary tuberculosis (TB) is rare and has not been reported in the pediatric population. Clinical Description: An 8-month-old infant who was recently diagnosed with miliary pulmonary TB and on antitubercular treatment presented with fast breathing for 2 days. Salient examination findings were tachypnea, with oxygen saturation of 84% in room air. High-resolution computed tomography of the chest showed diffuse involvement of both lungs with bilateral cystic changes. Histopathological examination of a lung biopsy specimen was consistent with LIP. Management: First-line antitubercular therapy was continued as per the national guideline, and methylprednisolone pulse was administered for 3 days followed by maintenance prednisolone for 8 weeks. The child responded well clinically and was kept under close follow-up. Radiological improvement became apparent at 15-month follow-up. Conclusion: Presence of diffuse cystic lung disease in pulmonary TB should raise suspicion for LIP. Lung biopsy is diagnostic and should be considered in such cases.

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Background: Fetus in fetu (FIF) is a rare congenital anomaly in which a parasitic fetus is trapped inside the body of its twin. The incidence is 1 in 500,000 births. Initially, considered as a mature teratoma, it was later identified as a separate entity due to the presence of an axial skeleton and organized limbs. Clinical Description: A 48-day-old girl presented with an antenatally detected calcified intra-abdominal mass. She had a palpable retroperitoneal mass measuring 6 cm × 4 cm at the left lumbar area. Sonology showed a heteroechoic cystic mass in the left lumbar region. Serum markers were normal except for a slightly elevated serum lactate dehydrogenase. Contrast-enhanced computerized tomography of the abdomen showed a well-defined cystic lesion measuring 7.6 cm × 6.5 cm × 5.9 cm with enhancing septae, multiple calcific foci, teeth, and bones in the left suprarenal region displacing the left kidney. Management: Laparotomy showed a cystic appearing mass with solid components within. Cystic structure was the amniotic covering and solid component turned out to be the FIF with a face, limbs, and umbilical cord. No adjacent infiltration was seen. Pathology confirmed the finding of FIF with an identifiable vertebral column, umbilical cord, pelvis and lower limb bones, skin, and retinal and brain tissue. The infant has been under follow-up for a year and is thriving. Conclusion: FIF is a rare condition of infancy which can be diagnosed preoperatively by radiological examination, treated by complete excision, and confirmed by gross and histopathology. Differentiation of FIF from teratoma is mandatory as the latter can be malignant.

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Background: An acute abdomen in children is often a challenging scenario for clinicians as it is caused by various medical and surgical conditions. Although symptomatology and specific clinical findings point directly to few causes, thorough history and in-depth clinical examination help to systematically narrow down the differential diagnosis. Clinical Description: We report a rare case of acute salpingitis in an 8-year-old prepubertal female child presenting with acute abdominal pain and fever for 3 days. Examination revealed diffuse abdominal tenderness with guarding and rigidity along with an ill-defined, tender mass in the right iliac fossa. Management: Abdominal ultrasound showed a hyperechoic mass in the right iliac fossa and the appendix was not visualized. The child was kept nil oral and started on broad-spectrum antibiotics. However, the child developed abdominal distension and worsening of pain over the next 24 h. The child was taken up for emergency laparotomy, and a complex mass in the right iliac fossa adherent to small bowel and covered by omentum was noted. Histopathological examination of the excised right iliac fossa mass showed acutely inflamed right fallopian tube. Normal appendix was noted in the postoperative ultrasonogram. Conclusion: It is important to differentiate surgical causes from nonsurgical ones to avoid unnecessary surgery and its complications. Salpingitis may mimic acute appendicitis because of nonspecific symptomatology and radiological signs and should be considered as a differential diagnosis for acute abdomen, even in a prepubertal female child.

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Background: Endocrine causes of hypertension constitute a very small percentage of patients with secondary hypertension. Apparent mineralocorticoid excess (AME) is a rare genetic form of young-onset secondary hypertension. Clinical Description: We present a case of a 16-year-old boy who was diagnosed with hypertension at 5 years of age, had recurrent episodes of hypokalemic paralysis, and deranged renal function for 1 year. Hypertension was uncontrollable with multiple antihypertensive agents until an aldosterone antagonist (spironolactone) was added. Clinical history and evaluation could not identify any secondary causes of hypertension. There was no significant family history. Growth and puberty were age-appropriate. Management and Outcome: Endocrine workup was planned considering hypokalemia and metabolic alkalosis. This demonstrated hyporeninemic hypoaldosteronism and raised the possibility of AME and Liddle syndrome. Clinical exome sequencing revealed a probable diagnosis of AME due to a novel homozygous variant (c.911A>G) in HSD11B2 gene. Sanger sequencing confirmed heterozygosity of the same variant in both parents. Conclusion: A novel homozygous variant was found in HSD11B2 gene in a subject with early-onset hypertension associated with hypokalemic metabolic alkalosis, establishing the diagnosis of AME. The use of an algorithmic approach and individualized planning of genetic studies can help in early diagnosis. This helps clinicians to select the appropriate antihypertensive drug, attain good control, and prevent the development of end-organ damage. A high index of suspicion should be kept for AME and other hyporeninemic hypoaldosteronism conditions in the case of early-onset hypertension.

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Background: Acute flaccid paralysis is a medical emergency. Hypokalemia secondary to an aldosterone-secreting adrenal adenoma or Conn's syndrome is a rare cause of hypokalemic paralysis. There are very few case reports from the pediatric population of the same. Clinical Description: We report the case of a 17-year-old girl, previously asymptomatic, who presented with sudden-onset, progressive weakness of all four limbs. There was no history of altered sensorium, cranial nerve involvement, or abdominal complaints. On examination, she was found to be hypertensive. Preliminary investigations revealed severe hypokalemia and metabolic alkalosis. There was no history suggestive of gastrointestinal potassium losses. Hence, a possibility of renal losses was considered and she was found to have kaliuresis. Management and Outcome: In view of hypokalemia, with hypertension with increased renal potassium loss, a possibility of hyperaldosteronism was considered. Plasma aldosterone concentration was elevated with levels of 20.3 ng/dl (normal <15 ng/dl). The direct renin concentration was <0.5 μIU/l (normal 5–14 μIU/l). This confirmed a diagnosis of primary hyperaldosteronism. Contrast-enhanced CT of the abdomen showed an adrenal adenoma. She electively underwent a laparoscopic adrenalectomy after her motor power improved with potassium replacement. Currently, she remains normotensive, asymptomatic, and off medications. Conclusion: The case highlights that Conn's syndrome though rare is an important cause that a high index of suspicion is necessary in young hypertensive patients to make an early diagnosis of this potentially treatable condition.

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Background: Unilateral acquired isolated palatal paralysis is a very rare entity seen in children. It usually occurs due to isolated involvement of the pharyngeal branch of the vagus nerve. The definite etiopathogenesis is still unclear, but postinfectious immune-associated cranial mono-neuropathy is frequently postulated as plausible cause. We report an Indian girl who presented with isolated right palatal palsy following a coronavirus disease 2019infection. To the best of our knowledge, this has never been described in the literature before. Clinical Description: A 7.5-year-old girl child presented with nasal twang of voice and nasal regurgitation of liquids mainly from the right side of her mouth for 7 days. There was no evidence of any other neurological or systemic involvement. There was no history suggestive of any of the common causes usually attributed to palataopharyngeal palsy. Examination revealed right palatal palsy with deviation of the uvula to the left confirming lower motor neuron weakness of the pharyngeal branch of the vagus nerve. Management: Routine investigations excluding usual etiological causes were normal. The severe acute respiratory syndrome–corona virus 2 (SARS-CoV-2) immunoglobulin G antibody test was positive. The final diagnosis was postinfectious immune-mediated demyelinating isolated right palatal palsy. The child responded dramatically to a short pulse of methylprednisolone for 3 days and did not display any sequelae on follow-up. Conclusion: In the setting of the current pandemic, we recommend including SARS-CoV-2 serology in the routine workup of children presenting with isolated palatal palsy.

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Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that presents as salt wasting or simple virilization (SV). It is due to biallelic mutations in the CYP21A2 gene that encodes the 21-hydroxylase enzyme. This gene is susceptible to deletions and duplications due to the presence of a homologous pseudogene and its location in the RCCX module. This complicates the interpretation of molecular analysis of the CYP21A2 gene. Clinical Description: During preconception counseling and subsequent workup of a couple, the wife (who had been diagnosed with simple virilizing CAH at the age of 14 years, based on clinical and metabolic profile) was identified with c.373C >T variant on one and a deletion on the other allele of CYP21A2. Her asymptomatic husband harbored a novel c. 939+5G>A variant in intron 7 of CYP21A2. Prenatal diagnosis by Sanger sequencing revealed the presence of both maternal (c.373C>T) and paternal (c. 939+5G>A) variants in the fetus, indicative of SV form. After genetic counseling, the parents decided to continue with the pregnancy. Management and Outcome: A baby boy was born who underwent investigations according to the standard protocol. However, a diagnosis of CAH could not be established conclusively. The molecular diagnosis of both baby and parents was revisited. It was found that the baby harbored a duplication of CYP21A2 (inherited from his father) along with a novel variant. The duplication neutralized the paternal variant, and thus the baby was not affected, but a carrier. Conclusion: Evaluation of duplication in parents is crucial before prenatal testing, as duplications have important bearing on the carrier status.

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Background: Blood D-lactate levels increase in short bowel syndrome (SBS) and may lead to neurological manifestations. Clinical Description: A 5-year-old boy, postoperative case of SBS, presented with loose stools, generalized weakness, and lethargy for 2 days. The child had undergone significant intestinal resection in the past. On examination, he had some dehydration, and was drowsy, but arousable. Remaining examination was normal. Metabolic abnormalities detected included metabolic acidosis (pH of 7.1, HCO₃ 7 mmol/L), high anion gap (20 mmol/l), and normal lactate levels (2 mmol/L). Other baseline investigations were normal. He was treated as a case of acute gastroenteritis with some dehydration and metabolic acidosis and improved. He was discharged after 5 days. After 2 months, he was readmitted with drowsiness and unsteady gait. This time there was no diarrhea or dehydration. Investigations again revealed severe metabolic acidosis, high anion gap, and normal lactate levels. Management: We considered SBS induced D-lactate encephalopathy but were unable to prove it by assay due to unavailability of tests. The child was kept nil per orally and given bicarbonate infusion, on which he showed dramatic improvement. He was also given a low carbohydrate diet and oral metronidazole. The family was counseled at discharge 5 days later regarding dietary modifications and microsupplementation. The patient had 6 admissions for D-lactic encephalopathy over 4 years that coincided with dietary lapse. Conclusion: D-lactate acidosis is an underrecognized condition and its diagnosis and management is challenging. A high index of suspicion should be kept in patients with history of intestinal resection presenting with acute encephalopathy and unexplained metabolic acidosis.

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Background: Biotin is the coenzyme of multiple carboxylases involved in gluconeogenesis, fatty acid synthesis, and amino acid catabolism. Biotinidase (BTD) deficiency is an autosomal recessive disorder affecting the biotin cycle. It disrupts endogenous biotin recycling and results in multiple carboxylase deficiency depending upon the level of enzyme activity. Children with profound deficiency often present in infancy with neurocutaneous manifestations. Management of symptomatic children or screen-positive newborns is lifelong oral supplementation with biotin. There may be partial or complete resolution of symptoms in the former. Clinical Description: We describe two unrelated families diagnosed as profound BTD deficiency, with three affected children in each family. The first family had two symptomatic surviving children, a 2-year-old boy with seizures, developmental delay, and hearing loss, and a 1.5-month-old boy with seizures. Diagnosis was established while ascertaining etiology for seizures refractory to multiple anticonvulsant therapy. The second family was referred for postconceptional counseling following two infantile deaths with similar phenotype, early-onset seizures, encephalopathy, and acute metabolic decompensation. Management: The affected children in the first family showed a dramatic response in seizure controls with oral biotin though the other symptoms such as developmental delay and hearing loss remained unaffected. Mother was advised regarding prenatal diagnosis in the next pregnancy but was unwilling. In the second family, stored genetic material from the earlier affected infant revealed a pathogenic homozygous indel in the BTD gene, which was confirmed in utero in the subsequent pregnancy. Both women were started on oral biotin on the lines of antenatal management of holocarboxylase synthetase deficiency. After birth, therapy was continued on the confirmation of profound BTD deficiency in both babies. They have remained asymptomatic on follow-up; the first baby till a year and the second till 3 months. Conclusion: There is a considerable phenotypic variability in profound BTD deficiency. Early detection and prompt treatment with biotin may result in complete resolution of some symptoms and ameliorate others. Antenatal biotin supplementation in families at high risk or with prenatal diagnosis of BTD deficiency may have a favorable outcome in affected progeny.

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Background: Intimate partner violence (IPV) is a form of abuse in which one partner causes physical, psychological, or sexual harm to the other, in the relationship. Exposure of children to this kind of domestic abuse is quite common in India, though not openly discussed. The management of children who present with functional somatic symptoms (suspected to be psychogenic in nature) is extremely challenging, especially since the history of IPV is not easily forthcoming. This case series highlights the evocative power of trauma-creative narrative interventions, such as poetry writing and story-telling, that help children express their fears and distress in a safe environment. This in conjunction with other modalities of management helps in their healing. Clinical Description: We present three children presenting with various functional somatic symptoms belonging to dysfunctional families. Comprehensive in-depth interviews, psychological assessment, and kinetic family drawings helped us assess each case, elicit the history of IPV, and understand the nature of the individualized fears and distress being experienced. Management and Outcome: The primary interventions used were creative narrative interventions such as asking the children to draw, write poems, and/or tell stories about their family and the situations they were experiencing. This helped them express their feelings of helplessness and latent anger arising from witnessing these violent events. Facing their fears in a safe environment resulted in successful resolution of somatic symptoms of all the three over time. This healing was reflected in the change in expressions via the art, poems, and written/oral narrations. Other strategies like provision of psychoeducation, highlighting the connection between symptoms and the underlying trauma, referral for marital counselling, and improving social support were also used. Conclusions: Pediatricians should have a high index of suspicion of the possibility of psychosomatic conditions when their patients display inexplicable manifestations that do not fit into any recognizable clinical phenotype, either by description or after investigation. These children and adolescents should be referred for a psychological evaluation and further eclectic management. The use of creative narrative therapies in conjunction with other modalities can lead to successful resolution of functional somatic symptoms.

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Background: Jatropha curcas is a flowering plant found all over the world. It has traditionally been used for medicinal purposes and as an ornamental plant. Lately, it is being promoted for biodiesel production. Since it is a commonly grown plant with seeds that are often mistaken as edible nuts, accidental ingestion is common among children. The presence of various plant toxins results in gastrointestinal, hepatic renal cardiotoxic, and hemolytic manifestations. The general public and most pediatricians are unaware of this. Clinical Description: We report a case series of thirteen children who presented to the emergency department with lethargy, abdominal pain, vomiting, and diarrhea after acute ingestion of seeds of an unknown plant. The presentation varied in severity of symptoms as well as degree of dehydration, which seemed to correspond to the number of seeds consumed. The parents were asked to bring parts of the plant and the seeds were identified to belong to the Jatropha curcas plant after expert botanical consultation. Management and Outcome: All the children were admitted. None of them had manifestations of any specific toxidrome, however, there seemed to be isolated gastrointestinal involvement, clinically. Gastric lavage was done immediately. Intravenous fluid correction was administered based on the severity of dehydration. Supportive treatment with antiemetics and antacids was provided. Baseline investigations were planned to rule out organ dysfunction. The most common derangement was neutrophilic leukocytosis. All children recovered well without any complications or sequelae. Conclusion: Jatropha Curcas is a noxious plant that should not be grown in areas where children play. Unknown plant poisoning should be treated with the same gravity as any other poisonous substance. All efforts should be taken to look for indicators of a specific toxidrome in case an antidote is warranted, as well as identify the concerned plant.

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Background: Progressive myoclonus epilepsy (PME) is a group of heterogeneous genetic disorders characterized by action myoclonus, epileptic seizures, and progressive neurologic deterioration with onset of symptoms in adolescence and adulthood. Unverricht–Lundborg disease (ULD) is the most common type of PME in high-income countries; however, it is under-reported from India due to challenges in clinical recognition and establishment of diagnosis due to lack of availability of genetic studies. Clinical Description: We herewith report three siblings (two girls and a boy) born out of a third-degree consanguineous marriage, with onset of “difficult-to-treat” seizures since early adolescence, with concurrent action myoclonus and ataxia. All three had a waxing and waning course. Electroencephalography exhibited generalized spike-wave and polyspike-wave discharges with photosensitivity while neuroimaging was normal. Management and Outcome: The possibility of PME was considered in view of the clinical phenotype and strong family history. Following detailed elicitation of history, focused physical examination, and rational investigative work-up specific molecular genetic testing were planned for ULD. This showed homozygous expansion of dodecamer (set of 12 nucleotides) repeat in the cystatin B gene in all the three affected siblings. The parents were heterozygous carriers. Genetic counseling was undertaken and anticonvulsant drugs (ACDs) modified accordingly. The definitive diagnosis helped in accurate prognostication and management to improve the quality of life of all three siblings. Conclusion: Clinicians should consider a specific epilepsy syndrome in patients with onset of symptoms in adolescence. ULD is a type of PME with a relatively better course of illness. Establishing the diagnosis has implications on the extent of investigative workup, choice of ACD, and prognosis.

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AMRIT Clinic in Bedawal village, located about 25 km from the nearest town and 100 km from Udaipur city, serves about 3000 tribal families. In this article, we discuss the management of a child with poststreptococcal glomerulonephritis (PSGN), who presented to us in unusual circumstances. Although PSGN is not an uncommon clinical condition, the goals of sharing this experience are threefold: sensitizing our urban counterparts to the challenges of managing such cases in the rural settings; describing the criticality of maintaining a balance between traditional beliefs and evidence-based medicine; and highlighting the value of “upstream” prevention rather than “downstream” treatment.

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Childhood pneumonia is a very common cause of morbidity and mortality in children, especially in developing countries. A small proportion of these are due to recurrent pneumonias. This is defined as the occurrence of more than one episode of pneumonia within a single year, or greater than 3 episodes within any duration; with radiographically documented clearing between episodes. A diligent, step-wise clinical approach and judicious laboratory investigations are required to establish clinical diagnosis. In this article, we describe the approach used to establish etiology in a case of recurrent pneumonia.

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