A Case of Chronic Granulomatous Disease Masquerading As Tubercular Lymphadenitis in an Infant.

Chronic granulomatous disease (CGD) is a rare inborn error of immunity characterized by recurrent fungal and bacterial infections due to defective nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity. This case report describes an 11-month-old female who was initially diagnosed with tubercular lymphadenitis and presented with fever and bilateral neck swelling. Despite receiving anti-tubercular treatment (ATT) and intravenous antibiotics, the patient experienced recurrent infections and abscesses, prompting further investigation. Laboratory tests revealed normal immunoglobulin levels but abnormal nitroblue tetrazolium (NBT) and dihydrorhodamine (DHR) tests, indicating CGD. Genetic analysis (clinical exome by next-generation sequencing) confirmed a novel NCF2 gene mutation associated with autosomal recessive CGD. This patient was treated with prophylactic antibiotics and antifungals and subsequently underwent successful hematopoietic stem cell transplantation (HSCT). This highlights the diagnostic challenges associated with CGD, particularly in tuberculosis-endemic regions such as India, emphasizing the importance of considering primary immunodeficiency disorders in patients with recurrent infections. Early diagnosis and appropriate treatment, including HSCT, can significantly improve patient outcomes. The patient remained infection-free on prophylactic antimicrobials for 1.5 years post-discharge, demonstrating the potential for a favorable prognosis with timely intervention and comprehensive management.

A rare case of acute abdomen in a child with scrub typhus.

Acalculous cholecystitis and pancreatitis are rare complications of scrub typhus in children. In febrile patients from an endemic area with multisystem involvement, scrub typhus should be a differential diagnosis. Scrub typhus patients who develop abdominal pain, acute cholecystitis or pancreatitis should be suspected.

Clinical Feature and Outcome of Childhood Status Epilepticus in a Teaching Hospital, Odisha, India.

Objectives The main aim is to find out the clinical feature and outcome of status epilepticus (SE) in children managed in a teaching hospital. The secondary aim is to identify the risk factors influencing the adverse outcomes. Methods In this prospective cohort, children aged 1 month to 14 years with SE as per the International League Against Epilepsy's new guideline (2016) who presented to the emergency department during the period of November 2017 to October 2019 were enrolled. Clinical profile, treatment, and outcome of cases (n = 94) were noted. Results The majority of children, 60 (63.82%), were less than five years of age. Prior history of seizures was present in 33 (35.1%) cases, whereas 61 (64.9%) cases presented with SE as the first episode of seizure. In 14 (42.4%) previous seizure cases, SE was due to drug default. No response to first-line antiepileptic drug (AED) was seen in 84 (89.37%) cases. Acute symptomatic etiology was the commonest etiology of SE in 64 (68%) cases, of which neuro-infections accounted for 44 (46.80%) cases. Longer duration (>60 minutes) of status (p < 0.01), ventilator support (p < 0.0001), and circulatory impairment (p < 0.0001) were attributable risk factors for mortality. A total of 28 children died (mortality rate, 29.8%), and 11 showed the persistence of their neuro-deficit. Conclusions Neuro-infection is the most common etiology of SE in children. Longer duration of SE, more lag time for receiving the first AED, respiratory failure, and presence of shock are independent predictors for poor outcome. Hence, cessation of convulsion at the earliest leads to improved outcomes.

Clinico-Biochemical Correlation in Birth Asphyxia and Its Effects on Outcome.

Background Birth asphyxia is a major cause of early neonatal death and leads to severe consequences such as epilepsy, cerebral palsy, and developmental delay. This study aims to determine the correlation between dyselectrolytemia and the degree of hypoxic-ischemic encephalopathy (HIE) and to find out major risk factors contributing to the severity of HIE and neonatal death. Methods In this prospective cohort study (n=150), term babies weighing ≥ 2.5 kg at birth, with the diagnosis of birth asphyxia, admitted in a medical college in Odisha state from September 2014 to August 2016 were included. Clinical findings, biochemical parameters, treatment, and outcome of HIE babies were recorded. Result The majority of the asphyxiated babies were having moderate HIE (HIE II) (57.33%), whereas mild and severe stages were seen in 15.33%, and 27.34% of babies, respectively. Factors like prolonged labor (87.8%) and meconium-stained liquor (63.4%) were mostly attributed to the severe degree of birth asphyxia (p < 0.001). Apnea, lethargy, and hypothermia were the most remarkable feature of HIE III. The degree of hyponatremia, hypocalcemia, and hyperkalemia (124.4±4.4 mmol/l, 0.83±0.08 mmol/l, and 6.17± 0.89 mmol/l, respectively) were more severely affected in HIE III as compared to HIE l (137.5±3.8 mmol/l, 1.06±0.17 mmol/l, and 5.0±0.79 mmol/l, respectively). Serum urea and creatinine increased proportionately with an increase in the severity of HIE grade. The mildly asphyxiated neonates recovered completely, whereas all the cases who died (n=29,19.3%) belonged to the moderate or severe degree of birth asphyxia. Conclusion The asphyxiated neonates had hyponatremia, hypocalcemia, hyperkalemia, raised serum urea, and creatinine and correlated with the severity of birth asphyxia. Prolonged labor and meconium-stained liquor were the most attributable factor for the severe degree of birth asphyxia. Effective neonatal resuscitation and quick correction of electrolyte imbalances will help in the reduction of neonatal mortality and long-term neurological sequelae.