Association of Liver Function Tests With the Severity and Outcome of Dengue Fever in Children.

Background Dengue is one of the most common vector-borne diseases in India, and it is transmitted by Aedes family mosquitoes. Hepatic injury is known to occur from dengue infection. Direct hepatotoxicity and deranged host immune responses to the virus are responsible for this hepatic dysfunction. Hence, the study was undertaken to understand the deranged hepatic enzymes using liver function tests (LFTs) and the severity and outcome of dengue fever in children. Methods This study is an observational-descriptive study conducted between June 2022 and May 2024. The study population includes children between the ages of one month and 16 years who have been diagnosed with dengue fever and admitted to pediatric wards and pediatric intensive care units (PICUs), with a sample size of 151. Informed consent from guardians and institutional ethical clearance were obtained. Results A total of 4.8% (N = 7) mortality was seen in this study with dengue patients. Hepatomegaly was seen in 34% (N = 49) of cases. There is a clear statistical significance that is seen among the non-survived and survived dengue patients with a 10-fold increase in serum glutamic-oxaloacetic transaminase (SGOT) and serum glutamic pyruvic transaminase (SGPT) levels, respectively, along with total bilirubin, activated partial thromboplastin time (APTT), and prothrombin time (PT). Conclusions The current study shows that deranged LFTs are associated with more severe disease with more PICU admissions and mortality of the disease. The evidence clearly indicates the inclusion of LFTs as a routine investigation to understand the severity of the disease and the prognosis of the outcome.

Presentation of Sex Chromosomal Disorders of Sex Development With Genital Ambiguity: A Case Report on a Rare Medical Condition.

Klinefelter syndrome (KS; XXY syndrome) is a common chromosomal abnormality associated with various physical and developmental characteristics. It rarely presents with ambiguous genitalia, a feature more typical of disorders of sex development (DSDs). Here, we describe a case of a five-month-old male infant with 47,XXY karyotype who presented with ambiguous genitalia which include bifid scrotum, small phallus, and penoscrotal hypospadias. Initial anthropometry and ultrasound evaluations were followed by hormonal and genetic analyses. Elevated follicle-stimulating hormone and low testosterone levels led to further testing, including a human chorionic gonadotropin stimulation test and karyotyping, which confirmed 47,XXY KS. This case underscores the need for thorough genetic evaluation in infants presenting with ambiguous genitalia, highlighting that KS can present with features overlapping DSDs. Comprehensive diagnostic approaches combining genetic, endocrinological, and clinical assessments are crucial for accurate diagnosis and management. This case aims to raise awareness among paediatricians about the potential for atypical genital presentations in KS and the importance of karyotype analysis in such scenarios.

Study of Clinicoetiological Spectrum of Bicytopenia and Pancytopenia in Hospitalized Children.

Background The etiological profile of children with bicytopenia and pancytopenia has a very wide spectrum, ranging from transient causes like infections or nutritional deficiencies to bone marrow failure syndromes. Timely diagnosis and treatment impart favorable prognosis to this entity. There is a paucity of data regarding the etiology of cytopenia in hospitalized children at a tertiary center in India. Additionally, only a few studies have discussed the possible association between the severity of cytopenia at presentation and the possible etiology. Methods This is a cross-sectional observational study analyzing bicytopenia and pancytopenia in hospitalized children. Patient details, along with clinical findings and relevant investigations, were recorded on predesigned pro forma and analyzed statistically. Results Out of 202 children, 174 (86.13%) had bicytopenia, and 28 (13.86%) had pancytopenia, with a male predominance resulting in a male-to-female ratio of 1.65:1. The commonest age group affected was pre-adolescent age group (6-12 years). The causes of bicytopenia and pancytopenia in hospitalized children in the decreasing order of frequency were infections (65.84%), benign hematological disorders (18.81%), systemic illness (10.39%), and malignancies (4.95%). The cytopenia was more severe in children with pancytopenia than bicytopenia. Conclusions Infections outweigh the other causes of bicytopenia and pancytopenia. The severity of the cell line affected can help narrow down a diagnosis of cytopenia etiologies. Most of the children with bicytopenia and pancytopenia had treatable etiology and favorable outcomes.

Pilomyxoid Astrocytoma Presenting With Developmental Regression: A Case Report.

Pilomyxoid astrocytoma (PMA) is a subtype of pilocytic astrocytoma (PA). PMA tends to exhibit a more aggressive course compared to PA. We present a case of a two-year-old male with a PMA in the suprasellar region who presented with developmental regression, loss of previously attained milestones such as the ability to hold his neck, walk, and talk, along with hypotonia in all four limbs. Serum cortisol and thyroid-stimulating hormone (TSH) levels were measured to rule out endocrine disturbances and were within normal limits. Magnetic resonance imaging (MRI) of the brain showed a solid lesion in the suprasellar region, extending into the pituitary and interpeduncular fossae, compressing the pituitary gland, and effacing the third ventricle, causing cerebrospinal fluid (CSF) flow obstruction and lateral ventricle dilation. The tumor appears hypointense on T1 and hyperintense on T2, with fluid-attenuated inversion recovery (FLAIR), peripheral contrast enhancement, and no calcification, consistent with PMA. The CSF analysis was negative for malignant cells. Histopathological examination revealed monomorphous bipolar and spindle cells in an angiocentric pattern with a myxoid background, without rosenthal fibers, mitoses, or eosinophilic granular bodies, consistent with PMA but not seen in PA. Immunohistochemistry showed strong positivity for glial fibrillary acidic protein (GFAP) and S100, with a Ki-67 index of 3-4%, indicating a low-grade tumor. The preferred treatment is surgical resection, but due to the tumor's deep location and potential long-term neurological effects, the parents opted against surgery. A ventriculoperitoneal shunt was placed to alleviate CSF flow, following which the child showed mild improvement in symptoms. Treatment of nonresectable astrocytomas was controversial, but gross total surgical resection offers better disease control. Chemotherapy is for patients with recurrence or where total resection of the tumor is not possible, and radiotherapy, though the long-term disease control is good, has a variable visual outcome.

Wiskott-Aldrich Syndrome: A Report of a Rare X-Linked Disorder.

Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive genetic disorder marked by eczema, thrombocytopenia, and immunodeficiency. The associated immune dysregulation increases the risk of autoimmune disorders and lymphoid malignancies. WAS results from mutations in the WAS protein gene on the short arm of the X chromosome. Here, we present the case of a seven-month-old male, born to non-consanguineous parents with no significant birth or family history. The child had height, weight, and head circumference below the third percentile for age and presented with recurrent mild upper respiratory infections, mild eczema, and thrombocytopenia. Despite symptomatic treatment and clinical improvement, platelet counts continued to decline. A provisional diagnosis of immune thrombocytopenia was made, and intravenous immunoglobulin was administered, which halted the downward trend but did not improve platelet counts. Autoimmune testing revealed strong positivity for antinuclear antibodies (ANA). Given the early-onset thrombocytopenia, anemia, and failure to thrive, autoimmune lymphoproliferative syndrome was suspected. However, T cell subset analysis was normal. A bone marrow biopsy suggested myelodysplastic syndrome or myeloproliferative neoplasm, but molecular studies were negative. Due to the early-onset autoimmunity and strongly positive ANA, genetic testing via whole exome sequencing confirmed the diagnosis of WAS.

Glutaric Aciduria Presenting With an Acute Encephalitic Crisis: A Case Report.

Glutaric aciduria type 1 (GA1) is an organic aciduria inherited in an autosomal recessive pattern, with an occurrence rate of one in 100,000. It is caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase (GCDH), encoded by the GCDH gene on chromosome 19. It is an important enzyme in the catabolism of amino acids such as tryptophan, lysine, and hydroxylysine. Its deficiency leads to the accumulation of organic acids such as glutaric acid and 3-hydroxyglutaric acid, which interfere with cerebral energy metabolism and cause neurological symptoms. Here, we discuss the case of a six-month-old male child who presented with status epilepticus following an eight-day history of fever. The child was started on anti-epileptics. Initially, the child was on non-invasive ventilation and was later intubated and taken on a mechanical ventilator. A magnetic resonance imaging (MRI) scan of the brain was performed, and the findings suggested GA1. The child was started on carnitine after samples were sent for tandem mass spectrometry (TMS) and urine gas chromatography-mass spectrometry (GC/MS), which came out to be positive for GA1. Despite the timely intervention, the child did not survive. Most cases exhibit movement disorders, with many presenting in acute encephalitic crises. Additionally, a significant portion of patients experience an insidious onset of the disease. An MRI of the brain shows widened Sylvian fissures in the majority of cases. Treatment of GA1 includes dietary modifications, including a low-lysine diet and administering carnitine. Early diagnosis and management result in decreased mortality and morbidity, which underscores the need for newborn screening.

A Rare Case of Congenital Generalized Lipodystrophy.

Congenital generalized lipodystrophy type 2 (CGL2) is a rare autosomal recessive disorder characterized by the near-total absence of adipose tissue, leading to various metabolic complications. We present the case of a one-year-old male who exhibited progressive abdominal distension from six months of age. Physical examination revealed distinctive features including triangular facies, hypertelorism, an emaciated appearance with absent buccal fat, and hepatosplenomegaly. Laboratory investigations showed elevated transaminases and a deranged lipid profile, while imaging confirmed hepatosplenomegaly without systemic anomalies. A liver biopsy indicated macrovesicular steatosis and impending cirrhosis. Genetic testing revealed a homozygous pathogenic variant in the BSCL2 gene (c.604C>T), confirming CGL2. The child is under regular follow-up, with genetic counseling provided to the parents. This case underscores the importance of early recognition, genetic diagnosis, and regular monitoring in managing this rare condition.