Background: Although lupus anticoagulant (LA) is known to be associated with an increased risk of thrombosis and obstetric complications, typically seen in antiphospholipid syndrome, the presentation of LA-hypoprothrombinemia syndrome (LA-HPS) is different with bleeding manifestations more common than thrombosis. We report such a rare disorder in an otherwise healthy boy, who presented with subcutaneous bleeding and was treated successfully. Clinical Description: A 9-year-old boy presented with acute-onset swelling in the popliteal fossa region of the left leg and left great toe. History of fever, trauma, drug intake, joint pain, epistaxis, or melena was absent. Since 6 months of age, he had recurrent episodes of multiple, painful joint, and soft-tissue swellings and ecchymotic patches which subsided spontaneously. Examination showed a tense, shiny bluish patch over the left popliteal fossa and a swollen tender left great toe, without any lymphadenopathy, hepatosplenomegaly, or arthritis. Management and Outcome: Routine hemogram and liver function tests were normal. Furthermore, antinuclear antibody and rheumatoid factor were within normal limits. Coagulation studies showed prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT), though bleeding and coagulation times were normal. Administration of Vitamin K and fresh frozen plasma (FFP) showed no improvement. Further investigations revealed normal values of von Willebrand Factor collagen binding, Factor VIII, Factor XIII, and fibrinogen, whereas prothrombin levels were reduced. The partial thromboplastin time-LA specific was high (170.10), suggesting a diagnosis of LA-HPS. The symptoms responded to prednisolone therapy, and there was complete recovery. Conclusion: A recurrent bleeding disorder with increased PT/APTT, not responding clinically to FFP transfusion, should raise suspicion of LA-HPS and appropriate tests need to be done. The prognosis of this disorder is good with corticosteroid therapy.

Background: Trichobezoar is a rare phenomenon where a ball of swallowed hair collects in the stomach. When its tail extends beyond the pylorus in to the small intestine, it is termed Rapunzel syndrome. The condition is most commonly seen in females with psychological disturbances, many of whom have trichotillomania and or trichophagia. We report Rapunzel syndrome condition in a young boy having no overt mental disturbances. Clinical Description: A 5½-year-old male child presented with complaints of vomiting for 20 days, associated with dull aching epigastric pain over 1 year. A lump had been noticed in the abdomen which was increasing in size for the past 5 months and decreased appetite for past 1 month. Besides pica, the child had no other significant medical or surgical illness. On examination, the child was underweight with pallor, with dry, lusterless, easily pluckable hair. His abdomen revealed a palpable lump in epigastrium, with ultrasonography showing a large gastric mass with air foci. Contrast-enhanced computed tomography abdomen revealed a large, well-circumscribed, nonhomogeneous lesion in the lumen of the stomach suggestive of bezoar. The patient underwent exploratory laparotomy, which confirmed trichobezoar with a long tail of hair extending through the pylorus into the small bowel. After successful removal of the trichobezoar, the patient was discharged with no postoperative complication and advised follow up in surgery, pediatrics, and psychiatry department. Conclusion: This case creates awareness of the possibility of the rare, bizarre entity of trichobezoar in a toddler presenting with nothing more than the usual common symptoms as seen in this age group. After ruling out common causes, when there is persistence of symptoms, with some clinical clues like pica, anemia, and behavior abnormalities, pediatricians may suspect an underlying atypical diagnosis like trichobezoar, even in a male child.

Background: Non-Rhesus D antigen non-ABO, minor blood group alloimmunization in pregnant women is being increasingly recognized as a significant contributor to the development of the hemolytic disease of the fetus and newborn (HDFN). We report severe HDFN in a neonate born to an Rh-positive mother with sickle cell disease, following anti-C and anti-S alloimmunization. Clinical Description: A male baby born to a repeatedly transfused mother with sickle cell disease developed severe jaundice at 22 h of life. The baby was found to have severe anemia and indirect hyperbilirubinemia, but no encephalopathy, hepatosplenomegaly, or features of sepsis. Management and Outcome: His blood group was O positive and the direct Coombs test was 4+. Minor blood group typing showed the presence of anti-C and anti-S antibodies. The baby improved after receiving a double-volume exchange transfusion with matched blood and phototherapy. Conclusion: Severe hemolytic disease of the newborn (HDN) may be caused by minor blood group alloimmunization, especially seen in mothers with a history of multiple transfusions. Antenatal screening for alloimmunization in high-risk mothers can ensure timely diagnosis and treatment of HDN and prevent the harmful effects of neonatal hyperbilirubinemia.

Background: Acute lymphoblastic leukemia (ALL) is a common pediatric malignancy, typically manifesting with symptoms of bone marrow and hematolymphoid organ infiltration. Although hepatic involvement in the form of hepatosplenomegaly is seen in nearly two-thirds of the patients, primary presentation as acute liver failure is rare. Clinical Description: A 12-year-old boy presented with complaints of abdominal distention with jaundice for the past 15–20 days, associated with transient fever of 6 days. Examination revealed pallor, icterus, and hepatosplenomegaly. A possibility of acute infectious or autoimmune hepatitis or hemolytic anemia was considered. Management: Liver function tests were deranged with hyperbilirubinemia with modest increase in transaminases and serum alkaline phosphatase along with deranged prothrombin time. The complete blood count showed pancytopenia with normal peripheral smear. Investigations for common infectious causes were noncontributory, as also those for autoimmune hepatitis. The direct Coombs test was also negative. In view of persistent pancytopenia with hyperbilirubinemia and hepatosplenomegaly, a bone marrow evaluation was done, which revealed B-cell ALL (B-ALL). Thus, the child was diagnosed with a case of ALL presenting with acute liver failure. The child was initially managed as a case of acute liver failure and on diagnostic confirmation, he was started on the B-ALL chemotherapy protocol as per his risk stratification with hepatic dose modification of chemotherapy. The child showed complete normalization of the liver functions by about 4 weeks of induction chemotherapy and achieved remission. Conclusions: A child presenting with acute liver failure may be having an underlying undiagnosed, clinically silent ALL. After ruling out common causes of acute liver failure, one must not forget the possibility of leukemic blast infiltration of the liver as a cause of liver failure. With early initiation of advanced chemotherapeutic induction regimens, there can be dramatic resolution of liver injury and remission of ALL.

Background: Although intussusception is a well-known phenomenon in childhood, double-site intussusception is rarely encountered. We report an interesting case of idiopathic double-site, two ileoileal intussusceptions. Clinical Description: An 11-month-old baby girl presented with acute-onset vomiting and abdominal distension over 3 days. There was no associated history of fever, respiratory tract infection, or gastroenteritis. The infant was otherwise healthy, thriving well, without any significant medical or surgical illness in the past. On examination, the infant was alert, but irritable, hemodynamically stable, with abdominal distension without any lump or organomegaly. Management: The infant was stabilized with supportive care initially. The abdominal radiograph revealed multiple air–fluid levels with a paucity of distal gas shadows. Ultrasound showed a single-target sign in the right lumbar region. At laparotomy, an ileoileal intussusception was detected. During manual reduction, another intussusception was identified; the distal one was also ileoileal at the terminal ileum with its apex at the ileocecal junction. Both intussusceptions were successfully reduced. No pathological lead point was observed for each intussusception. Symptoms resolved, and there was no recurrence. Conclusion: This case creates awareness about the rare occurrence of double-site intussusceptions, which are not always detected by imaging methods. A careful inspection of the entire gut intraoperatively is essential to avoid missing such unsuspected second intussusceptions.

Background: Congenital pulmonary airway malformations (CPAMs) comprise a spectrum of anatomical anomalies of the lungs and respiratory tree. The natural history of prenatally diagnosed CPAM varies from in utero resolution to progression to hydrops and intrauterine death. The majority of fetuses (90%) have a good outcome. However, in a minority (10%), the mass may grow so large that it is associated with complications and becomes life-threatening to the fetus. Clinical Description: Prenatal diagnosis of giant left CPAM type 1 was made at 24 weeks of gestation in a 29-year-old primigravida woman. The lesion consisted of multiple large cysts with a CPAM volume ratio of 4.7. Since the diagnosis, the mass was associated with nonimmune fetal hydrops and polyhydramnios which got worse throughout the following 4 weeks of gestation. Doppler studies remained normal until term. Management: The family received prenatal counseling. Parents refused termination of pregnancy and any other invasive or pharmacological therapy in light of the bad prognosis. The pregnancy was strictly monitored using standard fetal lung parameters. By 31 weeks' gestation, hydrops spontaneously improved to resolution but without any change in the size of the cysts. A baby girl was delivered at term, with birth asphyxia, who, despite all efforts by a multidisciplinary team, could not be revived. Autopsy and histopathological findings were compatible with type 1 CPAM. Conclusion: Hydrops is a well-known complication in fetuses with congenital cystic adenomatoid malformation. The present case reminds the possibility of its spontaneous resolution during pregnancy, even though the cyst size remains unaltered. The eventual neonatal survival depends not on the presence of hydrops but on the cyst volume and underlying lung hypoplasia.

Background: Noma is a devastating orofacial gangrenous condition that may cause significant mutilation of the facial anatomy. The pathogenesis is poorly understood and has been reported in a setting of low socioeconomic and unhygienic conditions with associated malnutrition. We present this condition in identical twin brothers. Clinical Description: Two identical twin brothers presented with painful swelling of the cheek with ulcerative defects in their upper lips. Both belonged to an impoverished family, and were malnourished, unimmunized, with poor oral hygiene. The typical anatomical presentation of the lesions with the characteristic family setting made the diagnosis consistent with noma (cancrum oris). Other siblings living in the same family with similar background conditions were unaffected. Management: After clinical stabilization, definitive surgical care, including debridement and regular dressings was done under the cover of intravenous antibiotics. With aggressive management along with nutritional rehabilitation and oro-muscular physiotherapy, the acute phase subsided and the patients were discharged in the scarring phase, with a plan for surgical reconstruction of the defect at a later date. Conclusions: The simultaneous presentation of noma in identical twins, with the sparing of other siblings living in the same contributing circumstances, raises suspicion of a genetic basis for this condition, which is as yet unknown. As the etiopathogenesis of noma is evolving, further evidence is needed to establish a genetic predisposition.

Background: A chronic history of exertional dyspnea, dry cough, and fatigue, associated with reticulonodular ground-glass opacity indicates an underlying interstitial lung disease (ILD). Pulmonary alveolar proteinosis (PAP) is a rare cause of ILD, in which there is abnormal accumulation of surfactant material in alveoli, thereby impairing gaseous exchange. In children, PAP is usually due to genetic mutations. We report a child with PAP due to mutation in methionyl-transfer RNA synthetase 1 (MARS) gene. Clinical Description: An 8-year-old boy presented with persistent dry cough, and exercise-induced breathlessness for 2 years of age, associated with failure to gain weight. He had multiple exacerbations in the past, requiring common symptomatic treatment, but with minimal improvement. On presentation to us, the child had tachypnea, hypoxia (oxygen saturation [SpO₂]: 85%), and Grade 2 clubbing, with bilateral fine crepitation in bilateral lung fields. Management and Outcome: The child was stabilized by providing oxygen via high-flow nasal cannula. Blood investigations were largely normal. His chest X-ray and computerized tomography (CT) of the chest were suggestive of childhood ILD. A lung biopsy revealed periodic acid–Schiff-positive eosinophilic granular material in the alveolar spaces without any fibrosis, suggesting a diagnosis of PAP. Next-generation sequencing revealed a compound heterozygous mutation of the MARS1 gene resulting in PAP. Parental segregation analysis showed each one to be a carrier of one of the genes. Therapeutic whole-lung lavage (WLL) was carried out, following which symptoms improved markedly. SpO₂ increased and the child was able to be weaned off oxygen and discharged. Three years, postdischarge, the child is asymptomatic and thriving well. Conclusions: PAP may be a cause of ILD in a child. Although the etiology can be ascertained by high-resolution CT of the chest and bronchoalveolar lavage, further genetic analysis should also be undertaken in children to identify the exact defect. WLL can provide a good outcome in children with PAP due to MARS mutation.

Background: Umbilical vein catheterization is a routine procedure in neonatal intensive care units. This invasive procedure, though easy and useful, can result in disastrous complications. Clinical Description: A 28 day old baby boy presented with umbilical sepsis along with multiple skin abscesses. He had a history of double volume exchange transfusion for Glucose 6 Phosphate deficiency induced hyperbilirubinemia, during the postnatal period. Ultrasound whole abdomen done to look for intra-abdominal abscesses revealed extensive portal vein thrombosis including the main portal vein and its branches with cavernoma formation. Upper gastrointestinal endoscopy revealed Grade II esophageal varices suggestive of the development of portal hypertension. Management and Outcome: Baby was started on subcutaneous enoxaparin which continued for 3 months. Follow up ultrasound showed complete obliteration of portal vein, replaced by cavernomas with development of grade II esophageal varices seen on upper gastrointestinal endoscopy. Conclusion: This case highlights how umbilical vein catheterization in the neonatal period can lead to catastrophic complications such as obliteration of the entire main portal vein and its branches, formation of portal cavernoma, portal hypertension, and esophageal varices, all of which can develop silently, at a very early age.

Background: Jarcho–Levin syndrome (JLS) is a rare, congenital skeletal disorder involving the spine and the ribs, resulting in varying degrees of thoracic insufficiency, presenting at birth. We report such a case in a tribal population in India. Clinical Description: A newborn baby was referred on the 2^nd day of life with respiratory distress and abnormal thoracic anatomy. Radiographs of the chest showed anomalies of the spine and ribs and decreased lung volume, the features being consistent with JLS (spondylocostal dysostosis). Management: The baby was provided respiratory support initially with continuous positive airway pressure and then shifted to oxygen by nasal prongs by 7 days of life. Ultrasound cranium and abdomen did not reveal any other associated anomalies and routine blood investigations were within normal limits. Respiratory distress settled and the baby was finally discharged successfully on the 12^th day, on breastfeeds. Conclusion: Respiratory distress in a newborn, soon after birth, may be due to thoracic insufficiency. The case creates awareness among pediatricians and neonatologists regarding this rare disorder which can be identified by specific vertebral and rib abnormalities. Survival depends on the severity of the bony abnormality and compromise in lung volume.

Background: Adrenocortical tumors are rare neoplasms of childhood; most of which are functional in childhood, producing excess hormones. Virilization, precocious puberty, and Cushing's syndrome are common presenting features. Clinical Description: A 6-year-8-month-old girl presented with features of virilization, which started appearing at 2 ½ years of age. The mother gave a history of progressive enlargement of the clitoris with the development of pubic, axillary, and facial hair over the years. There was no history of perinatal complications, features of adrenal insufficiency, atypical external genitalia at birth, or family history of malignancy. On examination, she had features of heterosexual peripheral precocious puberty. The hormonal investigation was suggestive of cortisol and androgen excess. Radiologically, she had an adrenal tumor appearing like adrenocortical carcinoma (ACC)-large size, high noncontrast Hounsfield units, and poor washout. Management and Outcome: As virilization was not present since birth and there was no evidence of adrenal insufficiency, therefore, the possibility of congenital adrenal hyperplasia was unlikely. Investigations revealed that the testosterone levels were much higher than other adrenal androgen precursors like dehydroepiandrosterone sulfate. This was a clinical clue to the well-differentiated and benign nature of the tumor although radiologically it appeared like ACC. The child underwent en bloc resection of the mass, and histopathology was suggestive of a benign adrenocortical adenoma. Seven days after surgery, the serum testosterone had dropped substantially. Conclusion: This case creates awareness about the possibility of an adrenocortical neoplasm in a child with early-onset virilization, which can be diagnosed correctly by following a step-wise, logical sequence of investigations.

Background: Congenital fibrinogen disorder is a rare autosomal recessive blood coagulation disorder, where majority of patients present with bleeding, whereas a few may paradoxically develop thrombosis. While many of the affected children have prolonged umbilical cord bleeding during the neonatal period, manifestations may go unnoticed till adolescence. We describe such a child with congenital afibrinogenemia Clinical Description: A 12-year-old boy presented with painless diffuse scalp swelling for 2 weeks without any antecedent history of trauma, hemarthrosis, muscle hematoma, or any skin bleed, except a history of prolonged bleeding post trauma since toddler age. Examination revealed diffuse, boggy, nonpulsatile swelling over the entire scalp, more prominent on the right side, without any focal neurological deficit. A noncontrast computed tomography head showed a scalp hematoma without any intracranial bleeding. Blood investigations revealed extremely elevated prothrombin time (PT) and activated partial thromboplastin time (aPTT) with normal platelet counts and normal platelet morphology on peripheral smear. A detailed coagulation work-up revealed an extremely high thrombin time and an almost undetectable Factor I (fibrinogen) level. Genetic analysis revealed a homozygous single-base pair deletion in exon 5 of the fibrinogen gene of alpha chain, thus confirming the diagnosis of congenital afibrinogenemia. Management: The child was managed with multiple fresh frozen plasma transfusions and serial PT/aPTT monitoring. Once PT and aPTT were normalized, transfusions were discontinued. The child is currently on regular follow-up maintaining a fibrinogen level of more than 0.5 g/L. Genetic counseling was done for the family. Conclusion: Congenital afibrinogenemia may be detected late in adolescence with atypical bleeding manifestations. Awareness of this entity may help the physician to suspect this disease. Early and appropriate investigations can be conducted to identify the condition, so that appropriate management can be initiated.

Background: Hashimoto's encephalopathy, also known as steroid-responsive encephalopathy associated with autoimmune thyroiditis, is a relatively uncommon neurological disorder, mostly in adults, with an extremely rare occurrence in children. Clinical Description: A 9-year-old girl presented with unprovoked seizures and encephalopathy. She had been diagnosed with hypothyroidism, at around 6 ½ years of age, though was noncompliant to therapy with levothyroxine. Management: The child was managed with intravenous (IV) antiepileptics and other supportive care. Seizures were refractory and with worsening sensorium, she required mechanical ventilation. The magnetic resonance imaging of the brain was unremarkable, as also the cerebrospinal analysis. Autoimmune encephalitis panel was negative. The electroencephalogram showed background activity of 10–11 Hz and few areas with generalized slow waves. As she was a known case of hypothyroidism without taking thyroid supplements for the past few months, thyroid profile was sent. Reports showed FT3-1.1 pg/dL, FT4-0.515 ng/dL, and thyroid-stimulating hormone (TSH) - 107.3 μIU/mL. Thyroid antibody profile revealed antithyroid peroxidase antibody >500 IU/mL and antithyroglobulin antibody >1000 IU/mL. Following this, an ultrasound of the neck was done which showed features of thyroiditis. Considering the possibility that the underlying thyroiditis could explain the obtunded state and refractory seizures, the patient was started on levothyroxine and IV methylprednisolone. The sensorium of the child improved dramatically, and she got extubated. There were no further seizures and her TSH level reduced gradually and eventually, she was discharged. Conclusions: In a child with altered sensorium and refractory seizures, Hashimoto encephalopathy is a diagnosis of exclusion and may be considered when most of the common causes of encephalopathy and seizures have been ruled out, especially in the setting of some clinical clues of hypothyroidism. The condition is often reversible with good response to steroid therapy.

Background: Tuberculosis (TB) is a common disease, especially in low-income countries, with a varied clinical spectrum involving multiple organs. Although liver abscess can be seen in 70% of patients with miliary tuberculosis, isolated tuberculous liver abscess (ILTA) is rare in immunocompetent children. Liver involvement, though seen in up to 70% of patients as a part of miliary TB, isolated tuberculous liver abscess (ITLA) is rare in 13 children. Objective: The present systematic review focuses on demographic parameters, clinical presentations, duration of antitubercular treatment, and the need for surgical intervention and recurrence in children with tuberculous liver abscess. Methods: A comprehensive search was done in major databases PubMed and Google Scholar using defined search terms encompassing case reports or case series on isolated tubercular liver abscess in children. The identified reports underwent screening by three different authors for inclusion and exclusion criteria. Results: The median (interquartile range [IQR]) age of presentation was 9.5 (6.5) years, with a slightly higher prevalence in females (59%). The most common presenting symptom was fever (95%), followed by abdominal pain (68%). Hepatomegaly was seen in 90% of cases and jaundice in 16%. The median (IQR) duration of antitubercular treatment was 6 (4) months and surgical intervention was required for 14 (63%) children. The resolution time of the ITLA varied across the children, with a median (IQR) time being 2 (7) months. Conclusion: Pediatric tubercular liver abscess requires a high index of suspicion, particularly in endemic countries like India. Children with liver abscess should be evaluated for TB, if response to initial management is poor. Early diagnosis and prompt treatment with systemic antitubercular treatment are associated with a favorable outcome.