Background: Atypical Mongolian spots are lesions that are aberrant in location (over the abdomen, back, legs, shoulders, or arms), extensive in distribution, persist beyond early infancy, and/or progressively increase in number. These are frequently associated with lysosomal storage disorders or neurocristopathies. Clinical Description: A 4-month-old girl presented with a common cold. Extensive aberrant Mongolian spots over the back, buttocks, lower limbs, and new onset grayish-blue macular spots over the abdomen prompted us to do a detailed evaluation to look for any underlying pathology. Other salient clinical findings included coarse facies, hepatomegaly, absence of significant developmental delay, bilateral macular cherry red spots, and ovoid-shaped vertebral bodies. The clinical phenotype was that of a lysosomal storage disorder possibly GM1 gangliosidosis. This was confirmed by deficient levels of ß-galactosidase. Management: The parents underwent genetic counseling. The infant was enrolled in an early intervention program. By the age of 6 months, the infant had not acquired any new developmental skills and new Mongolian spots did not develop. Subsequently, the family was lost to follow-up. Conclusion: Infants with aberrant Mongolian spots need to undergo an in-depth evaluation to identify underlying systemic disorders, even if they are asymptomatic. Diagnosis helps in providing supportive care to the child, specific therapy (if available) and the option of prenatal diagnosis in subsequent pregnancies.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Sibling bullying is repetitive aggressive behavior that is motivated by the desire to dominate and incite distress on the victims. It is a hidden epidemic, with nearly 50% of children being victimized sometime in their lives. Since this is associated with adverse consequences for victims and abusers, it requires prompt recognition, evaluation, and management. Clinical Description: We present three families of sibling bullying. Comprehensive individual in-depth interviews (individual and group) were conducted by a team of professionals. The goal was to understand the psychological impact on the children, the family dynamics, and underlying psychosocial issues. Common factors identified were inadvertent positive reinforcement of bullying by parental inability to set limits to the abuser's aggression, failure to model respectful communication, and lack of using appropriate conflict resolution strategies. Management and Outcome: Drama therapy was used as the primary modality of intervention. This involved putting families in hypothetical situations in which they reenacted a bullying incident. Family members played various roles interchangeably in multiple sessions. The role-plays and ensuing discussions created awareness of the adverse effects of sibling bullying on the entire family. This coupled with instruction on positive disciplining and use of conflict resolution and anger management strategies resulted in a gradual decline in bullying. Conclusions: Sibling bullying can be effectively managed by strategies that promote positive interpersonal relationships. Pediatricians need to recognize cases of sibling bullying and consider referral to mental health professionals for evaluation and appropriate management.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Dengue and severe dengue have various hemorrhagic manifestations ranging from mild presentations such as petechiae, bleeding from injection sites, ecchymosis, and gum bleeding to severe presentations like major mucosal bleeding such as hematemesis, melena, menorrhagia, and concealed internal bleeding. Common causes of anemia in dengue are due to blood loss (secondary to thrombocytopenia and/or coagulopathy), transient suppression of the bone marrow, and rarely, hemolytic anemia. Clinical Description: We describe a 5-year-old boy who presented to us in the critical phase of severe dengue with features of capillary leakage and cola-colored urine. Salient investigation reports were anemia, thrombocytopenia, normal reticulocyte count, absence of coagulopathy, indirect hyperbilirubinemia, deranged transaminase, highly elevated lactate dehydrogenase, and low haptoglobin levels, and hemoglobinuria, suggestive of acute intravascular hemolysis (AIVH). Autoimmune and microangiopathic hemolytic anemia, malaria, ingestion of dyes, snake bite, Glucose 6 phosphate dehydrogenase deficiency, and incompatible blood transfusions were excluded. Thus, the final diagnosis was severe dengue with hemolytic anemia and AIVH. Management: Oxygen delivery by the Heated Humidified High-Flow Nasal Cannula, strict input/output charting, appropriate fluid therapy, and diuretic infusion were the mainstays of management in an intensive setting. The aim was to maintain ventilation, perfusion, balance hydration, achieve optimal urine output and prevent fluid overload. Conclusion: Clinicians should consider Dengue as a possible cause for AIVH in children with severe dengue and cola-colored urine.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Allergic rhinitis is common in Indian children, one of the common triggers being house dust mites. Skin prick tests (SPTs) and subcutaneous immunotherapy (SCIT) using standardized extracts of these aeroallergens are increasingly being used in the diagnosis and the management of allergic rhinitis in India. Clinical Description: We describe three children with moderate-to-severe allergic rhinitis who were considered ideal candidates for SCIT based on persistent typical clinical symptoms causing significant functional impairment, despite multiple medications for years, and positive family history. Each displayed characteristic local signs (crease over nasal bridge, pale nasal mucosa, and hypertrophy of the inferior nasal turbinates) and normal systemic examination. Management: Each of the children displayed significant sensitization with allergens containing standardized preparations of Dermatophagoides pteronyssinus (Dp) and Dermatophagoides farinae (Df) on the basis of which it was decided to start them on SCIT using the standard protocol. Large local reactions developed and were managed conservatively. All three responded well to bi-weekly shots of progressively increasing concentrations used in the induction phase of SCIT, and are currently asymptomatic on monthly maintenance doses that will continue for 2–3 years. Conclusion: Pediatricians should consider referring children with moderate-to-severe allergic rhinitis to Pediatric Allergists for SCIT if significant wheals are observed on SPT. SCIT not only stops the progression of disease, and improve the quality of life, but is also known to prevent the development of bronchial asthma.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: The term “congenital” is used for cases of nephrotic syndrome (NS) that manifests in the first 3 months of life. They are rare diseases mainly due to genetic causes but sometimes attributed to congenital infections. The prognosis depends on the type of mutation in the former and whether remission occurs with specific therapy in the latter. Clinical Description: We describe an 11-week-old baby who presented with generalized edema and features of septic shock that responded to antibiotics. The presence of hypoalbuminemia, proteinuria, and hypercholesterolemia completed the clinical phenotype of NS. Mesangioproliferative glomerulonephritis was confirmed on histopathology. The presence of persistent hepatosplenomegaly, neurological findings, decreased head circumference, and poor nutritional status prompted us to investigate for congenital infections. Positive antibody levels for Cytomegalovirus (CMV) and positive polymerase chain reaction confirmed CMV infection, though we were unable to establish whether it was congenital or acquired postnatally. A novel genetic mutation (c. 712+1G>C) was identified in the NPHS 1 gene. Management: The baby was initiated on specific antiviral therapy and attained partial remission of renal symptoms after 4 weeks. The patient was lost to follow-up after 6 months. Conclusion: The coexistence of the Finnish variety and CMV infection might have caused the severity of phenotype. The authors emphasize the importance of performing a genetic test in cases of congenital NS and also working up for acquired causes on an individualized basis.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Sudden unexplained postnatal collapse (SUPC) is a condition in which a newborn born at term or near term, and an Apgar score >8 at 5 min and deemed healthy, presents with sudden unexpected cardiorespiratory collapse within the 1^st week of life. This can be due to multiple, heterogeneous causes. Clinical Description: A term male neonate developed lethargy and refusal to feed at 56 h of life. The baby was cyanosed, apneic, in peripheral circulatory failure and normothermic. Supportive management was started. Sepsis and congenital heart disease were ruled out. The presence of hypoglycemia, metabolic acidosis and hyperammonemia prompted us to think of a metabolic disorder. Metabolic profile was suggestive of glutaric acuduria (GA). Exome sequencing showed heterozygous missense variants in in exon 7 and 8 of SLC25A1 gene indicative of GA II but reported as of uncertain significance. Both parents were carriers. Management: The final diagnosis was neonatal onset GA II without congenital anomalies. He was started on riboflavin and carnitine. Mechanical ventilation and inotropes were gradually withdrawn and breastfeeding started. Genetic counseling was done. The baby was doing well at the 4-month follow-up visit. Conclusions: Identifying and managing a newborn with SUPC is critical for the outcome. An individualized and rational approach should be used to identify the cause. The management of GA II is primarily supportive with tiding over of metabolic crises and dietary modifications.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Raine syndrome is a rare autosomal recessive neonatal osteosclerotic bone dysplasia caused due to mutations in the FAM20C gene. It has an early and aggressive onset which often results in death in the first few weeks of life, although there have been cases of patients surviving into childhood. Clinical Description: We describe the case of a neonate girl born with microcephaly, proptosis, triangular mouth, depressed flat nasal bridge, mid-face hypoplasia, low set ears, high-arched palate, and a wide-open anterior fontanelle. Based on the clinical phenotype, the differentials considered were a congenital infection and Crouzon syndrome. Management: Infantogram revealed generalized osteosclerosis. Based on the radiological phenotype, the differentials considered include Thanatophoric dysplasia, osteopetrosis, and Achondroplasia. Search for concealed anomalies revealed dysmorphic features in the brain and kidneys. The clinical exome demonstrated a heterozygous missense and heterozygous nonsense variant in exon-7 of the FAM20C gene, which established the diagnosis of Raine syndrome. Conclusion: Genetic analysis based on phenotype can aid in the early diagnosis of dysmorphic children and help in instituting appropriate management

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: With the ever-evolving guidelines and changing drug regimens for pediatric tuberculosis (TB), it is paramount for treating physicians to understand the efficacy and safety profiles of the drugs being used. Linezolid is included in the treatment of multidrug-resistant and extensively drug-resistant (XDR) TB in the intensive, as well as continuation phases. Clinical Description: A 12-year-old child with XDR central nervous system TB was treated with second- and third-line anti-tubercular drugs including linezolid. Three weeks after therapy started the boy presented with progressive pallor for a week, lethargy for few days, and rapid breathing since that morning. He was severely pale, acidotic, and in hypotensive shock. Investigations revealed severe anemia, thrombocytopenia, reticulocytopenia, normal liver and renal function, and no evidence of sepsis. He also had severe metabolic acidosis and hyperlactatemia. Management: The child was mechanically ventilated and administered red blood cell and platelet transfusions. The presence of ringed sideroblasts in the bone marrow confirmed acquired sideroblastic anemia. The clinical, hematological, and metabolic toxicities were considered most likely due to linezolid. It was discontinued and his drug regime was modified. There was a rapid symptomatic improvement with supportive therapy and gradual increase in hematological parameters with cessation of linezolid. Conclusions: Clinicians are used to treating Gram-positive infections with short courses of linezolid. Regular and planned monitoring is required when linezolid is used at higher doses and longer durations.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: The management of urea cycle disorders (UCDs) needs use of nitrogen scavenger drugs and protein restricted special formulas. The latter is not easily accessible and expensive. Continued breastfeeding is poorly tolerated by most babies. In these circumstances, targeted breast milk modification can be lifesaving by reducing ammonia and preventing a catabolic state. Clinical Description: A term baby born by normal delivery was discharged at 48 h after successfully initiating breastfeeding. He developed lethargy, poor feeding, and seizures on the 4^th day. Vitals were stable. Sepsis, hypoglycemia, hypoxic-ischemic encephalopathy, dyselectrolytemia, hepatic/renal derangement, structural brain anomalies, cerebral edema, and hemorrhage were ruled out. A UCD was suspected due to hyperammonemia without acidosis. Citrullinemia was established by elevated citrulline and no orotic acid. Management: Breastfeeding was stopped, nitrogen scavenger drugs started, and peritoneal dialysis performed. As specialized milk formula was unavailable, we started diluted breast milk mixed with corn starch and coconut oil to achieve protein restriction and provide appropriate carbohydrates, lipids, and energy. Dilution was gradually decreased. There was gradual improvement in sensorium with normalization of ammonia. The baby was well till 8 weeks but developed symptomatic hyperammonemia due to noncompliance with therapy. Conclusion: Targeted modification of breast milk may be the only viable option for feeding infants with UCD in extraordinary circumstances. However, its short- and long-term consequences need to be researched thoroughly.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Type I interferonopathy is a group of autoinflammatory disorders associated with enhanced type I interferon levels, due to upregulation of activation mechanisms or downregulation of negative feedback. Aicardi-Goutières syndrome (AGS) is one of these conditions, characterized by encephalopathy that usually manifests in late infancy. A rarer presentation that mimics congenital trans-placentally acquired infection or a 'pseudo-TORCH' subtype has been described. Clinical Description: A boy of 36-week gestational age with intrauterine growth restriction, nuchal transparency and a normal antenatal microarray assay, was delivered by cesarean section for oligohydramnios and fetal distress. The baby cried at birth, but developed mild respiratory distress and was neurologically depressed. A congenital infection was considered in view of being hypoplastic small for date with microcephaly, encephalopathy, intracerebral calcifications, multiple congenital heart lesions, and hepatosplenomegaly. Bilateral corneal edema was noted. Management: Supportive treatment was initiated. Mother-baby serology for congenital infections was negative. Various differential diagnoses for pseudo ToRCH presentations were considered and genetic testing planned. Exome sequencing identified a homozygous, single base pair insertion (c. 56_57insG variant) in exon 2 of TREX1 gene on chromosome 3, previously reported in AGS. The baby did not survive, Conclusion: This paper describes the clinical approach that was used to establish diagnosis in a neonate with “pseudo ToRCH” phenotype. It also expands the clinical phenotype of AGS by reporting a hitherto undescribed ocular finding of congenital corneal edema.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Epistaxis is common in children. Almost 60% experience at least one episode by 10 years of age. Most are benign and self-resolving. Episodes that are severe, frequent, take longer to resolve, or unilateral should be investigated. Although extrapulmonary tuberculosis (TB) is common in children, presentation as a sinonasal mass is rare. Clinical Description: A 4-year-old girl presented with a history of recurrent, left-sided epistaxis for 2 months, with diffuse ipsilateral facial swelling for 2 weeks. There was a history of preceding oral swelling and weight loss. Nasal endoscopy revealed a friable left nasal mass. Imaging delineated an infiltrative, highly cellular lesion in the left maxillary sinus, infiltrating surrounding bone and extending into the left nasal cavity, jaw, and orbital floor. Management: Endoscopic biopsy was suggestive of noncaseating granulomatous lesion. Langerhans cell histiocytosis, granulomatosis with polyangiitis and microscopic polyangiitis, and malignancy were ruled out. Nucleic acid amplification tests and culture established microbiological diagnosis of primary sinonasal TB. Initiation of antitubercular therapy led to complete recovery. Conclusion: The diagnosis of sinonasal TB is challenging and requires multidisciplinary collaboration. Its rarity and nonspecific presentation requires a high index of suspicion by the treating team. Clinical, histopathological, and microbiological criteria should be used to establish a diagnosis. Primary sinonasal TB is a rare entity in young immunocompetent children.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Neonatal diabetes mellitus (NDM) is a rare condition, usually genetic in etiology, that presents with hyperglycemia requiring insulin within the first 6 months of life. Most cases of permanent NDM are caused by mutations in the KCNJ11 or ABCC8 gene, which are involved in the potassium adenosine triphosphate channels. Clinical Description: A 1.88 kg female infant product of a consanguineous marriage was delivered at term by cesarean section for oligohydramnios and intrauterine growth retardation. There was a strong family history of DM involving the mother, father, and grandparents. Clinical examination was normal. Routine blood sugar monitoring identified hyperglycemia at 1 and 3 h. There was no clinical or laboratory evidence of sepsis. Management: Persistent hyperglycemia continued that necessitated the administration of insulin from the 1^st day onward. The abdominal ultrasonogram was normal. C-peptide was low, indicating poor endogenous insulin production. Genetic analysis revealed a novel mutation in the glucokinase (GCK) gene (p. Glu178Asp). A brief trial of sulfonylureas (glibenclamide) was ineffective. The infant attained control, although with considerable difficulty, on a mixture of NPH and long-acting insulin. After 5 months of follow-up, she is thriving well. Conclusion: GCK mutation is a rare but important cause of NDM. To the best of our knowledge, this is the first Indian infant to be reported with a GCK gene mutation.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]