Tuberculosis Presenting as Ruptured Liver Abscess and Inferior Vena Cava Thrombosis in a Pediatric Patient.

Background: Tuberculosis is a leading cause of mortality and morbidity in many countries across the world, including Pakistan. While systemic tuberculosis can involve any organ of the body, tubercular liver abscess is a rare presentation. Case Report: We report the case of an 8-year-old female from a developing country where tuberculosis poses a significant burden on the health care system. The patient presented with fever and weight loss for 6 months and abdominal pain for 14 days. On examination, she had tenderness and guarding over the right hypochondrium. Investigations revealed neutrophilic predominance in the complete blood count and elevated C-reactive protein. Imaging of the abdomen revealed ruptured liver abscess, extensive abdominal lymphadenopathy, and thrombus in the inferior vena cava. Gastric secretions were positive for Mycobacterium tuberculosis. Treatment included antitubercular and antithrombotic therapy. The patient was closely followed until she had completed the 1-year course of antitubercular therapy and was symptom-free. Conclusion: In tuberculosis-endemic countries, physicians should keep a high index of suspicion for tuberculosis in children who present with liver abscess and multisystem involvement.

Blood product transfusion practices in pediatric critically ill patients at a tertiary care hospital, Pakistan.

Objective: To determine the frequency of inappropriate blood product transfusions in pediatric critically ill patients. Methods: We collected data for this descriptive study from January to December 2020 at the Pediatric Intensive Care Unit (PICU) of Dr. RKMP Civil Hospital, Karachi. We included all patients one month to 12 years of age, admitted to pediatric intensive care unit and received any blood product transfusion. We reviewed their medical records and noted the demographic and clinical variables, type of blood product transfused with its indication and determined whether transfusion was appropriate or not, as per the standard guidelines and consensus recommendations. Results: Number of patients who were transfused was n=39, out of which females were 51.3%. Mean age of the patients was 49.0 months ±50.9 months. Total number of transfusions done were n=135, with most common blood product transfused being Fresh Frozen plasma (FFP) in 44.4%. A total of n=117 (86.66%) transfusion were appropriate as per the standard guidelines, while 18 (13.33%) were inappropriate (P-value <0.5). The most common indication of FFP transfusion was INR >2.0 in 51.6%, for Packed red cell transfusion was hemoglobin between 5 and 7 gm/dl in 35.5% and for Platelets was <20,000 with risk of bleeding in 36.6%. Conclusion: This study highlights the occurrence of inappropriate transfusions in critically ill pediatric patients. We need to reinforce the knowledge of our health care workers and display the guidelines in intensive care units.

Trivial injury with devastating complication-A case of pediatric pancreatic pseudocyst.

Key Clinical Message: Pancreatic pseudocysts are rare in the pediatric population, commonly a result of trauma. Timely diagnosis and adequate management with a multidisciplinary approach are the key to avoid morbidity and mortality. Larger cysts often require surgical intervention. Abstract: We report a case of a 4-year-old female child who presented with a massive pancreatic pseudocyst. Pseudocysts >10 cm are at an increased risk of rupture, hence require surgical intervention. Percutaneous external drainage via pigtail catheter was followed by cysto-gastrostomy due to continuous high output. The postoperative period was uneventful.

Intermediate Autosomal Recessive Osteopetrosis With an Unusual Absence of Fractures.

Background: Osteopetrosis includes a variety of rare inherited skeletal disorders characterized by increased bone density and thickness. It has different clinical forms, including infantile autosomal recessive, intermediate autosomal recessive, and late-onset autosomal dominant forms. Intermediate autosomal recessive osteopetrosis (IARO) displays high variability. Case Report: A 10-year-old male presented to our pediatrics emergency department with abdominal distension, low-grade fever, and swelling of the right maxilla with associated discharge. His local physician had treated the lesion with drainage and aspiration of pus without improvement. Examination revealed pallor, hepatosplenomegaly, poor dentition, and dental caries. Eye examination showed reduced visual acuity, absent color vision, nystagmus, and bilateral optic nerve atrophy. Laboratory investigations showed anemia and thrombocytopenia. Radiography yielded classic features of osteopetrosis. Detailed intraoral examination revealed an area of exposed necrotic bone in the alveolar region of the right maxilla, leading to a diagnosis of IARO with underlying osteomyelitis. The intraoral wound was treated with bismuth iodoform paraffin paste dressing, and the infection was treated with antibiotics. Anemia and thrombocytopenia were managed supportively by transfusion of packed red blood cells and platelets. Conclusion: IARO commonly presents with multiple fractures, so the absence of fractures in our patient was unusual. Studies evaluating the intermediate variant are meager; hence, documenting its various presentations is essential to aid physicians in making early diagnoses. Osteomyelitis of the jaws is a feared complication in these patients. Therefore, practitioners need to be cautious of infections of dental origin.

Hereditary Tyrosinemia Compounded With Hyperinsulinemic Hypoglycemia: Challenging Diagnosis of a Rare Case.

Hereditary tyrosinemia type 1 (HT-1) is a rare autosomal recessive disorder caused by a deficiency in the enzyme fumarylacetoacetate hydrolase (FAH), which catalyzes the final step in the tyrosine degradation pathway. Hereditary tyrosinemia is a heterogeneous disease with a wide spectrum of clinical manifestations involving hepatic, renal, or nervous systems. It has grave consequences if left untreated. Some of the late complications of hereditary tyrosinemia include cirrhosis, liver nodules, hepatocellular carcinoma, hypophosphatemic rickets, nephrocalcinosis, glomerulosclerosis, and chronic renal failure. Rarely, infants with hereditary tyrosinemia may present with persistent hypoglycemia, which may be a result of acute liver failure or hyperinsulinism. Hyperinsulinemic hypoglycemia (HH), caused by dysregulation of insulin secretion from pancreatic ß-cells, leads to insulin driven glucose entry into the tissues and inhibits glycolysis, gluconeogenesis, fatty acid release, and ketone body synthesis. Hyperinsulinemic hypoglycemia can cause severe, persistent hypoketotic hypoglycemia. Diagnosing tyrosinemia type 1 can be a challenge as it is a heterogeneous disorder with a wide variety of clinical manifestations and complications. We herein report a rare case of a three-day-old male neonate with HT-1 compounded with HH.

Neonatal Nonketotic Hyperglycinemia: A Rare Case from Pakistan.

Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder caused by a defect in glycine cleavage enzyme. It leads to the accumulation of glycine in the body tissues, blood, and cerebrospinal fluid (CSF). Most NKH cases are diagnosed during the natal period of life and are fatal if not promptly diagnosed and managed. Here we present a case of a two-day-old child who presented with reluctant feeding and lethargy. She had reduced tone in all four limbs and a Glasgow Coma Scale score of 9. Keeping an infectious etiology in mind, she was started on cefotaxime and amikacin. The patient was shifted to the neonatal intensive care unit; however, no improvement in the patient's condition was seen and antibiotics were changed to linezolid and meropenem along with initiation of acyclovir. The patient's blood and CSF cultures were negative. Serum amino acid chromatography showed elevated levels of glycine, and a diagnosis of NKH was made. The patient was managed symptomatically but expired on the 22nd day of admission. The case highlights the importance of prompt diagnosis and management of aminoacidopathies. Nearly all metabolic disorders have similar clinical presentations, and an early diagnosis can improve the outcome in patients.

An Atypical Variant of Apple Peel Atresia: Reporting a Rare Case.

Apple peel intestinal atresia is a rare congenital malformation. It consists of a proximal jejunum ending in a blind pouch and distal small bowel wrapped around its vascular supply in a spiral fashion. A combination of type IIIb jejunoileal atresia (apple peel atresia) and type IV (multiple intestinal atresias) is a rare entity. The diagnosis and management of such complicated cases is a challenge, especially in resource-limited settings. We report a case of a four-day-old female who presented to the neonatal intensive care unit with complaints of vomiting, yellow discoloration of the skin, and failure to pass meconium since birth. The baby was born preterm (34 weeks) via spontaneous vaginal delivery. The physical examination concluded a jaundiced and dehydrated child with a soft, non-tender abdomen and absent gut sounds. X-ray abdomen showed two air-fluid areas in the left hypochondrium. The upper gastrointestinal gastrografin study revealed that contrast opacified the third part of the duodenum and no contrast was observed beyond it. On exploratory laparotomy, proximal jejunal atresia with four distal atresias in apple peel fashion and a viable 20 cm of small bowel was observed. The apple peel segments were supplied by mesenteric vessels. Unfortunately, our patient expired despite all supportive measures. The case highlights the significance of the prenatal and early postnatal diagnosis of such a complex combination of intestinal atresias for adequate and timely management.

Beta Thalassemia Major with Gaucher's Disease: A Rare Entity.

Thalassemia is a genetic disorder due to deletion or mutation in the gene for alpha or beta chain of hemoglobin. Gaucher's disease (GD) is characterized by a deficiency of a lysosomal enzyme, glucocerebrosidase which occurs due to mutations in the GBA1 gene on chromosome 1. Thalassemia and GD have overlapping clinical manifestations and present with features such as anemia, hepatosplenomegaly, and skeletal involvement. This creates a diagnostic conundrum for physicians. We present a case of an 11-month-old female who presented with fever, increasing paleness, and labored breathing. She had a recent history of uncross-matched transfusion. The child showed signs of anemic failure. Physical exam findings strongly pointed towards hemolytic anemia due to thalassemia major. Genetic analysis confirmed homozygosity in Fr 8-9 mutation confirming beta thalassemia major. Bicytopenia along with visceromegaly indicated malaria or storage diseases. Enzyme analysis revealed low levels of beta-glucocerebrosidase with normal acid sphingomyelinase levels confirming GD. In our case, we report the association of beta thalassemia major with GD which is a rare entity. The report highlights the need for an independent assessment of disorders that have similar presentations to avoid missing an associated disorder.