Maternal Tuberculosis Leading to Congenital Tuberculosis: A Case Report.

In India, tuberculosis (TB) is a severe public health concern. We report a case of a 45-day male baby who had respiratory distress and fever, whose mother was diagnosed with pulmonary TB infection prior to delivery which was confirmed by a positive Cartridge-Based Nucleic Amplification Test (CBNAAT) from the sputum and was on antitubercular therapy (ATT). Due to the symptoms, signs, and maternal TB history, congenital TB was strongly suspected. A positive CBNAAT result from the gastric lavage further supported this suspicion. This case emphasizes the value of obtaining details on the mother's TB history to aid in the early diagnosis of congenital TB and expedite the treatment and prognosis.

Unveiling the Silent Struggle: A Teen's Battle With Heart Failure Masking Takayasu Arteritis.

We hereby report a 17-year-old adolescent who presented with heart failure with an underlying diagnosis of Takayasu arteritis. Her clinical complaints were intermittent fever, claudication pain in the left upper limb, New York Heart Association (NYHA) grade III dyspnea, and episodes of dizziness for the past two years. On examination, she was unconscious, had absent peripheral pulses, and had severe hypotension. Diagnostic investigations revealed anemia, deranged renal and liver functions, cardiomegaly on chest X-rays, and severe coarctation of the aorta on echocardiography. Further imaging with CT aortography highlighted extensive arterial wall thickening. Laboratory findings included elevated inflammatory markers and negative autoimmune and infectious markers, confirming the diagnosis of large vessel vasculitis (Takayasu arteritis) with heart failure with reduced ejection fraction (LVEF 20-25%) in NYHA class III. The patient was managed with a combination of antihypertensive medications, diuretics, and immunosuppressive therapy. Subsequent follow-up demonstrated improvement in heart failure symptoms and inflammatory markers. This case emphasizes the challenging diagnostic and therapeutic considerations in managing Takayasu arteritis with concurrent cardiovascular complications in the adolescent population.

Fetal Hydantoin Syndrome: A Case Report.

Epilepsy is not a common cause of morbidity in pregnancy. It has widespread effects on maternal and fetal health necessitating adequate control of seizures. Many anti-seizure medications (ASM) have teratogenic effects on the fetus. We report a case of severe fetal hydantoin syndrome resulting in life-threatening major congenital anomalies. The mother was on phenytoin for the last three years and the pregnancy was not registered. We discuss various features of fetal hydantoin syndrome and the ideal management of epilepsy in pregnancy in brief.

Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report.

Pseudo hypoaldosteronism (PHA) is a type of channelopathy leading to life-threatening hyperkalemia, hyponatremia and metabolic acidosis in neonates. Type I PHA (PHAI) is characterized by either mutation in NR3C2 (MLR) gene or genes related to subunit of ENaC channel, whereas Type II (A to E) PHA is due to mutations in other genes. Type I PHA is further divided into systemic and renal forms based on the gene and organ involved. Systemic PHAI is a rare, multisystem disease presenting as severe salt wasting in neonates. In this article, we report a case of systemic pseudohypoaldosteronism type 1 in a 2 days old neonate with a novel mutation involving SCNN1B gene. Our patient appears to be the first reported case of systemic PHAI due to SCNN1B mutation from India.