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Background: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) syndrome is a rare cause of obesity, characterized by early and rapid onset of obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction. When there is an associated neuroendocrine tumor, (NET) it becomes ROHHAD NET. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction, and autonomic alterations. It is difficult to distinguish this clinically from other obesity syndromes of genetic origin unless an individualized strategic approach is used. Clinical Description: We present a case of a 5-year-old developmentally normal girl with excessive weight gain starting in early childhood and the development of a squint. The clinical phenotype of central hypoventilation and autonomic dysfunction, central hypothyroidism, and central precocious puberty satisfied the criteria for ROHHAD syndrome. Management: A right-sided paraspinal supradiaphragmatic mass was identified that was excised and diagnosed as neuroblastoma on histopathology. Since there was no evidence of metastases, chemotherapy was not indicated. Alpha and beta-blockers were started for autonomic dysfunction and high catecholamine levels. Lack of improvement in behavioral manifestations prompted a trial of immunosuppressive therapy, but yielded no results. She ultimately succumbed to a probable cardiorespiratory arrest during sleep. Conclusions: ROHHAD syndrome should be considered a differential diagnosis in rapid-onset monogenic obesity and should be managed with a multidisciplinary approach. Prognosis is guarded due to sudden life-threatening events secondary to autonomic dysfunction.

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Background: Gonadotropin-releasing hormone analogs (GnRHas) such as triptorelin have been found to be effective and safe in the suppression of central precocious puberty (CPP). Only minor and transient side effects have been reported with depot preparation used in children. Clinical Description: We present three children with CPP who developed late onset hypertension 18–24 months after starting triptorelin, a long-acting GnRHa depot preparation. The secondary causes of hypertension were ruled out on the basis of clinical findings, appropriate blood tests, echocardiography, and abdominal ultrasound. Management and Outcome: After starting therapy with GnRHa, the children were evaluated routinely every 2–3 months for the 1^st year, then every 6 months. They developed hypertension between 18 and 24 months after starting triptorelin. While therapy with triptorelin was stopped in all three children, only one of them was prescribed antihypertensive drug. The hypertension resolved gradually after discontinuation of triptorelin in all the children and antihypertensive was also omitted in the single case. Conclusion: Hypertension may be an adverse effect of triptorelin therapy and thus regular monitoring of blood pressure in children undergoing therapy with this drug for CPP is warranted.

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Background: Neonatal hyperekplexia is a rare nonepileptiform disorder characterized by an exaggerated startle reflex associated with generalized hypertonia. We report a newborn with mutation in the glycinergic inhibition pathway resulting in hyperekplexia, associated with features of arthrogryposis multiplex congenita. Clinical Description: A 3-day-old newborn born at term vaginally cried immediately after birth and presented with lethargy, poor cry, and abnormal clonic movements of all four limbs. On examination, there was hyperreflexia and hypertonia in all four limbs along with dislocation of the right knee joint. Blood investigations, including tandem mass spectrometry, serum ammonia, serum, and cerebrospinal fluid glycine levels, were normal, ruling out inborn errors of metabolism responsible for hyperekplexia and arthrogryposis. The magnetic resonance imaging (MRI) brain and electroencephalogram were normal, while the MRI spine showed kyphosis. The genetic evaluation showed heterozygous missense mutation in exon 6 of the SLC6A9 gene and homozygous mutation in the TOR1A gene, which explained the hyperekplexia and the arthrogryposis multiplex congenita. Management and Outcome: The patient received supportive care. Oral clonazepam and levetiracetam were started in view of hypertonia and clonic spasms. Feeding was given by intragastric tube as he had poor suck–swallow coordination. Conclusions: This case highlights an interesting and extremely rare combination of hereditary hyperekplexia and arthrogryposis multiplex congenita existing together in the same patient, confirmed by the corroborating genetic mutations. Awareness of such conditions among pediatricians is essential to order appropriate genetic evaluations and treatment accordingly.

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Background: Langerhans cell histiocytosis (LCH) is a rare condition in which there is the proliferation of cells of the monocyte-dendritic cell lineage, including Langerhan's cells, with variable clinical manifestations and outcomes. Hepatic involvement is often seen as a part of multi-system LCH and is associated with a fulminant course. Isolated hepatobiliary involvement in LCH is rare. Clinical Description: We report an 11-month-old female infant presenting with prolonged fever associated with progressive jaundice, clay-colored stools, and a massive hepatomegaly. Liver biopsy showed CD1a and Langerin positivity. There was no other system involvement, and hence, the infant was diagnosed with a case of single-system LCH with isolated hepato-biliary LCH. Management and Outcome: A customized chemotherapeutic regimen was started with cytarabine and prednisolone. The patient has responded and there has been gradual improvement in the general clinical condition as well as the laboratory parameters. Conclusions: This case report creates the awareness of possible presentation of pediatric LCH with isolated liver involvement. A high index of suspicion, carefully customized chemotherapeutic regimen may help in the timely diagnosis and successful management.

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Background: Ataxia neuropathy spectrum, including sensory ataxia neuropathy, dysarthria, and ophthalmoparesis (SANDO), is a part of polymerase gamma (POLG) gene-related disorder, a heterogeneous group of mitochondrial disorders. Childhood onset of the SANDO phenotype is rare, and we describe such a case here, probably the first from India. Clinical Description: A 17-year-old girl presented with progressive gait abnormality since 5 years of age, later associated with ptosis and seizures. On examination, she had atrophy of distal small muscles and absent tendon reflexes in addition to ataxia and ptosis. Differentials for a neurodegenerative disorder with cognitive sparing and ophthalmoplegia were suspected. Management: Investigations revealed a mild elevation in serum lactate, transaminases, and creatine phosphokinase, with abnormal neurophysiology showing primary muscle disease with symmetrical sensorimotor polyneuropathy, and a normal neuroimaging. Gene sequencing analysis for the mitochondrial disorder was done, which revealed a pathogenic variation in the POLG gene. The child was kept on supportive management, including antiepileptics. Conclusion: This case shows that the SANDO phenotype of POLG-related disorders, classically seen in adults, may rarely be seen in children. Our case highlights the fact that although many of the progressive neurodegenerative disorders have a nonspecific clinical presentation, biomarkers, and neurophysiologic abnormalities, a few important phenotypic clues and awareness of POLG-related disorders may enable a pediatrician to order focused genetic testing to delineate the etiology.

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Background: Distal renal tubular acidosis (dRTA) can be acquired or inherited. Hereditary types of dRTA are mostly seen in the pediatric population, whereas acquired forms predominate in adults. The diagnosis of hereditary dRTA can be confirmed by genetic testing. Five genes are known to cause the disease: ATP6V1B1, ATP6V0A4, FOXI1, SLC4A1, and WDR72. Most of the children with autosomal dominant forms carry mutations in the SLC4A1 gene, whereas the most common mutation in autosomal recessive type is ATP6V0A4 and ATP6V1B1 genes. Objective: In this systematic review of case reports, we discuss the clinical features and mutation variants of hereditary dRTA due to homozygous pathogenic variations in the WDR72 gene, which has been recently identified. Methods: The PubMed and Google Scholar databases were searched with defined search terms and eligibility criteria independently by different authors. Results: Of five full-text articles retrieved, four were finally included which provided data of 14 individuals, all of which had specific mutations in WDR72 gene. The majority of cases were attributed to individuals of Asian descent (71%) with equal distribution of males and females. The mean age of onset was 4.42 years. Amelogenesis imperfecta (AI) was described in 90% of patients, nephrocalcinosis in 62.5%, polyuria in 55.5%, proximal muscle weakness in 55.5%, and rickets in two patients. Conclusion: In patients exhibiting features such as metabolic acidosis, hypokalemia, AI, polyuria, nephrocalcinosis, and growth retardation, genetic analysis for WDR72 mutation should be considered.

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Background: Bart syndrome is one of the rarest forms of aplasia cutis congenita (ACC). Clinical Description: We report a sporadic case of a neonate presenting with the absence of skin on the lower limb, tense blisters on fingers, and nail dystrophy. Management: Clinical features and skin biopsy confirmed the diagnosis of Bart syndrome. The baby was given symptomatic treatment with regular antimicrobial dressing. Within 2 weeks, the defect healed with the formation of hypopigmented scar and milia. The bullous lesions also disappeared completely. Conclusion: Bart syndrome, which is a type of ACC, is an extremely rare occurrence. Although it has an extensive involvement, the lesions if superficial, limited to the epidermis, have a good prognosis. Conservative management is sufficient to cause healing within a short span of time.

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Background: Hematohidrosis is a rare clinical disorder characterized by transient, self-limited bleeding from the eccrine sweat glands through intact skin in the absence of an underlying bleeding disorder. Clinical Description: We report a 10-year-old girl who presented with a history of bleeding from the dorsum of her right hand. The child has had recurrent episodes in the past. Many of the episodes were temporally related to her school examination. She did not have any other bleeding manifestations or susceptibility to bruising. Her general condition and systemic examination were unremarkable, and the skin underlying the bleeding site was normal and healthy. All investigations related to bleeding and coagulation parameters were within normal limits. Skin biopsy showed normal histology. Having ruled out all organic causes of bleeding, the typical history of transient episodes of bloody secretions from the skin, triggered by examination stress and normal skin histology, was consistent with a diagnosis of hematohidrosis. Management: The child responded dramatically to oral propranolol with a subsequent reduction in the frequency of the bloody sweating episodes, even during stressful times. Psychological counseling was also provided. Conclusion: In a child presenting with oozing of blood from the skin, a possibility of hematohidrosis may be considered, when all causes of bleeding diathesis have been ruled out by a thorough workup. Pediatricians need to counsel both parents and the child regarding the benign nature of the condition.

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Background: Nonimmune hydrops fetalis (NIHF) due to congenital chylothorax (CC) is rare and is usually associated with high mortality. Chylothorax complicated with congenital cytomegalovirus (CMV) infection is extremely rare and the management becomes challenging. We present a case of CC in a preterm infant with associated CMV positivity, which was managed successfully. Clinical Description: A 2.25 kg, 34-week female newborn, with antenatally diagnosed hydrops, delivered by emergency cesarean section, presented with pleural effusion and poor respiratory efforts. Management: The baby was provided mechanical ventilation and all supportive treatments. Pleural fluid testing was suggestive of high proteins with high white cell counts, predominantly lymphocytes. Baby was also positive for CMV immunoglobulin M with a high number of copies in the urine polymerase chain reaction. The baby initially responded well to oral valgancyclovir but returned with severe respiratory distress on day 20 of life, at which time, was again found to have right-sided chylothorax. This was managed successfully with octreotide at a dose of 8 μg/kg/hour and 90% medium chain triglyceride diet. Conclusions: CC should be considered in the differential diagnosis of NIHF. An incidental serological test positivity for CMV may be superimposed on underlying CC. If the latter is managed optimally with close monitoring, the outcome is usually favorable.

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Background: Diffuse lung disease (DLD), conventionally known as interstitial lung disease (ILD), encompasses a spectrum of diseases involving the pulmonary parenchyma with impairment of gaseous exchange. Most of the diseases under DLD have similar presentations, but appropriate investigations can delineate the exact disease. Diffuse alveolar hemorrhage (DAH) is one of the diseases under this umbrella group of DLD. Clinical Description: A 3-year-old girl suffering from persistent breathlessness and intermittent hypoxic exacerbations over 1 year, presented to us with acute respiratory worsening. She was underweight with stunting and had severe pallor. She had received blood transfusions in previous hospitalizations. Chest-X-ray shows reticular opacities, with High Resolution Computed Tomography (HRCT) chest showing bilateral diffuse ground glass opacities involving all lobes with the prominent pulmonary artery. The broncho-alveolar lavage showed hemosiderin-laden macrophages, thereby confirming alveolar hemorrhage. Antinuclear antibody was positive, though double-stranded DNA and Anti-neutrophil cytoplasmic antibody were negative. The child was thus diagnosed with a case of DAH, probably, immune mediated. Management: The child was treated with supportive care, including oxygen, intravenous fluids, antibiotics, and packed red cell transfusion. Even after improvement in hemoglobin, oxygen dependency persisted. The child was then administered Intravenous Immunoglobulin and prednisolone, to which the child showed a response with gradual weaning off oxygen. Conclusions: In any child presenting with persistent respiratory symptoms, especially exercise intolerance, over a prolonged period with intermittent hypoxic exacerbations, a pediatrician should consider diagnoses beyond infections and multitrigger wheezing. Such manifestations, particularly if associated with failure to thrive, may be due to DLD. DAH, a rare form of DLD, may be a possibility in such children.

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Background: Cyclic neutropenia (CyN) is a rare inherited neutrophil disease characterized by a periodic neutropenia with an absolute neutrophil count (ANC) dropping below 0.5 × 10⁹/L every 3–4 weeks, followed by normalization over the next few days. Clinical Description: A 3-year-old boy presented with recurrent episodes of fever, respiratory tract infections, diarrhea, gingivitis, and oral and cutaneous ulcers from 11 months of age, requiring multiple hospitalizations. He was immunized for age, normal development, with an unremarkable family history. An underlying primary immunodeficiency disorder was suspected in view of recurrent multi-site infections since infancy. Management: The hemogram revealed a normal total leukocyte count with severe, neutropenia, lymphocytosis, normal platelet count and severe anemia . Purified protein derivative test and human immunodeficiency virus test were negative. The chest Xray showed right lower lobe consolidation. Blood culture was sterile. Bone marrow study, immunoglobulin profile, and lymphocyte subtyping were within the normal limits. The child was treated symptomatically with parenteral antibiotics and packed red blood cells transfusion. The ANC increased to 2592/mm³ but, again fell by 27 days after admission. Review of previous blood counts showed a fall and rise of ANC every 3–5 weeks. Clinical exome sequencing revealed a heterozygous mutation in the ELANE gene, a pathogenic variant c. 1A>G (p.Met1), confirming the diagnosis of CyN. The child improved with Granulocyte – colony stimulating factor (G-CSF). Conclusion: Diagnosis of CyN can be challenging as it needs a high index of suspicion and meticulous monitoring of blood counts. If suspected, they should be screened for ELANE mutations.

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Background: Oral mucoceles, though frequently seen as asymptomatic lesions in young adults, very little is known about their existence in infants and the complications arising out of them in this age group. Clinical Description: A 4-month-old infant presented with a history of recurrent episodes of breathing difficulty since 15 days of life, every episode being managed as aspiration pneumonia. The child presented in the fifth such episode with tachypnea tachycardia and chest indrawing. Auscultation revealed bilateral crepitations and chest X-ray showed diffuse haziness in the bilateral chest predominantly in the right middle lobe, rest of the systemic examination being normal. Oral cavity examination showed a bluish globular bulge behind the tongue with surrounding congested mucosa and thick secretions. Management and Outcome: The baby was managed with respiratory support in the form of continuous positive airway pressure, intravenous antibiotics Piperacillin-Tazobactam, amikacin and metronidazole, and anti-reflux measures of oral Domperidone. Flexible laryngoscopy showed a cystic lesion behind the tongue and contrast-enhanced computerized tomography confirmed a hypodense lesion arising from the uvula suggestive of a mucocele. Excision of the oro-pharyngeal cystic lesion was done and the histopathological examination confirmed it to be a mucocele. The baby was gradually weaned off oxygen support and proper breastfeeding was re-established. Conclusion: This case creates awareness regarding the fact that an unsuspected oral mucocele may be the cause of recurrent respiratory symptoms in an infant, thereby reiterating the importance of oral examination even in young infants.

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Background: Multisystem inflammatory syndrome in children (MIS-C) has been described as an illness consisting of inflammation of more than one system of the body with raised inflammatory biomarkers following an infection of COVID-19. There is growing literature regarding the clinical spectrum of the condition. We report an unusual presentation of optic nerve demyelination in a child diagnosed with MIS-C. Clinical Description: A 3 years, 10-month-old boy presented with fever, generalized maculopapular rash, conjunctivitis, and bilateral palmar erythema. On examination, the child was febrile with tachypnea, tachycardia, and engorged jugular veins. Chest auscultation revealed basal crepitation. The cardiovascular examination was unremarkable. He had tender hepatomegaly. He developed photophobia and poor vision on the fourth day of admission with weakness of limbs. Ophthalmological examination showed a loss of visual acuity (perception of light only), while the fundoscopy examination was normal. Management: Inflammatory biomarkers and COVID-19 antibody titers were elevated. Echocardiography (ECHO) showed dilatation of the coronary arteries and poor ejection fraction. Magnetic resonance imaging of the brain showed bilateral optic nerve demyelination. Thus, the diagnosis was consistent with MIS-C with optic neuritis. Treatment was initiated with intravenous immunoglobulin (IVIG) and intravenous methylprednisolone with other supportive measures. At the 3-week follow-up, the child's vision, power in all four limbs, and echo parameters improved. Conclusion: This case creates awareness regarding optic neuritis as a rare presentation of MIS-C with cardiorespiratory and neurological involvement, successfully managed with IVIG and steroids.

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