Arteriovenous Malformation of the Superficial Femoral Artery: A Case Report.

Peripheral arteriovenous malformations (AVMs) are rare vascular anomalies characterized by abnormal connections between arteries and veins that bypass the capillary system. This case report details a three-year-old female child who presented with an enlarging swelling on her knee's medial side. AVM was diagnosed using computed tomography (CT) angiography and surgically excised. The case highlights the importance of early detection and timely intervention of AVMs to prevent complications.

Waardenburg Syndrome: A Report of a Rare Case.

Waardenburg syndrome (WS) is a rare autosomal genetic disorder characterized by oculocutaneous pigmentation defects, congenital deafness, dystopia canthorum, and a broad nasal root. It exhibits both genetic and clinical heterogeneity. This report presents a case of a 17-month-old male child who was brought to the Outpatient Department with complaints of hearing impairment and speech delay. Clinical examination revealed classic signs of WS, including iris pigmentary abnormality (brilliant blue iris), hair hypopigmentation (white forelock), dystopia canthorum, a broad nasal root, and a hypopigmented patch on the left arm. Based on the clinical features, the case was classified as WS Type I. This case underscores the importance of early recognition and diagnosis of WS for timely management and genetic counseling, particularly in pediatric patients with hearing impairment and distinctive pigmentation anomalies.

Novel Lipopolysaccharide-Responsive Vesicle Trafficking, Beach- and Anchor-Containing (LRBA) Gene Mutation Identified in a Pediatric Patient: A Case Report.

Homozygous mutations in the lipopolysaccharide-responsive vesicle trafficking, beach- and anchor-containing (LRBA) gene lead to a syndrome characterized by early-onset hypogammaglobulinemia, autoimmunity, lymphoproliferation, and inflammatory bowel disease. This report describes a 10-year-old female who experienced three seizure episodes, including two generalized tonic-clonic seizures (GTCS) and one focal seizure, alongside septic shock. The patient had a history of recurrent respiratory tract infections, inflammatory bowel disease, multiple blood transfusions, lymphadenopathy, significant organomegaly, and hematological abnormalities, all consistent with an LRBA deficiency. This case highlights the critical need for prompt recognition and identification of LRBA gene mutations to enable timely management and improve patient outcomes.

Hereditary Tyrosinemia Type-1 With Late Presentation: A Case Report.

The etiology of hereditary tyrosinemia type 1 (HT-1) is the absence of fumarylacetoacetate hydrolase (FAH), an enzyme that catalyzes the last stage of the tyrosine breakdown process. With an autosomal recessive inheritance pattern, it is an uncommon genetic condition. We present a case of HT-1 in a three-year-old female child characterized by abdominal distension, facial edema, lower limb edema, and an enlarged liver with parenchymal disease. A liver biopsy confirmed mixed nodular cirrhosis, and a subsequent whole exome sequencing revealed autosomal recessive inheritance of tyrosinemia type 1. The patient is currently undergoing treatment with capsule nitisinone 5 mg, which inhibits the second step of tyrosine degradation to prevent tyrosinemia, along with a restricted protein diet, while awaiting liver transplantation.

Autosomal Recessive Hyper-IgE Syndrome in a Child With Beta Thalassemia Trait: A Case Report.

Autoimmune diseases are multifaceted disorders, and their coexistence with other conditions can present unique challenges in diagnosis and management. Here, we report a rare case of autosomal recessive hyper-IgE syndrome (AR-HIES) in a child with beta thalassemia trait. AR-HIES is a distinct immunodeficiency disorder characterized by severe eczema and recurrent bacterial and viral infections, particularly affecting the sinopulmonary system. This case highlights the importance of recognizing and managing the co-occurrence of rare genetic conditions, as it can impact treatment strategies and familial counseling. This unique case of AR-HIES in a child with beta thalassemia trait underscores the complexity of autoimmune disorders and the need for comprehensive evaluation in patients presenting with multiple clinical manifestations.

A Rare Case of Subacute Sclerosing Panencephalitis in an Immunized Patient.

This study presents a case of subacute sclerosing panencephalitis (SSPE), a rare neurologic disorder characterized by brain inflammation, typically triggered by measles virus reactivation or an abnormal immune response to it. This case involves a five-year-old male child with persistent fever, declining motor function, excessive sleepiness, and myoclonic jerks. MRI indicated potential ischemic changes or encephalitis, while electroencephalography showed SSPE-consistent patterns. Further investigations confirmed SSPE, with elevated IgG levels in serum and cerebrospinal fluid (CSF) and positive measles IgG antibodies in CSF. Treatment included isoprinosine, lamivudine, and intrathecal interferon-alpha for symptom management and disease progression. Despite atypical SSPE features, subclinical measles infection was considered a probable cause. The patient showed partial improvement post-treatment and was discharged for follow-up. By reporting this case, we would like to emphasize clinical judgment, early detection of the symptoms, and lateral thinking to diagnose fatal conditions such as post-measles SSPE, even in fully immunized patients.

Association of Helicobacter pylori in Children With Self-Hand Hygiene, Maternal Hand Hygiene, Cooking, and Feeding Practices.

Background and objective Helicobacter pylori infection is widely prevalent, but its route of transmission is not clear. Person-to-person transmission seems plausible, with hand hygiene being one of the many factors that play a role. The objective of this study was to study the effect of the children's and their mother's hand hygiene and feeding practices on the prevalence of H. pylori in children. Methodology This cross-sectional study involved 475 children and their mothers. A questionnaire was administered to mothers to gather information about maternal hygiene practices, specifically handwashing before food handling and after using the toilet. Additionally, both mothers and children underwent assessments for nail length (whether cut or uncut) and the presence or absence of dirt under their nails, if nails were uncut. The association of these parameters with H. pylori seropositivity in children was comprehensively examined. Furthermore, children were divided into two distinct groups: a younger age group (one month to two years and 11 months) and an older age group (three years to 15 years). For one specific parameter - the presence of dirt under mothers' nails (i.e., if nails were uncut) - the association was further analyzed separately within these age groups. The chi-square test was applied to all variables. P < 0.05 was considered significant Results The association of all variables with H. pylori seropositivity in children was tested. Association with H. pylori seropositivity was not present in mothers with uncut nails (P = 0.050315), mothers with uncut nails harboring dirt under their nails within the entire sample of 475 mothers (P = 0.39476), and mothers with uncut nails harboring dirt under their nails in the older age group (three years to 15 years) of children (P = 0.760071). Association with H. pylori seropositivity was present in mothers with dirt under their uncut nails belonging to the younger age group of children (one month to two years and 11 months (P = 0.014127) and mothers who did not wash their hands before food handling (P = 0.003032) and after using the toilet (P = 0.003082). In all 475 children, association with H. pylori seropositivity was significant with dirt under the uncut nails of children (P = 0.015194) and was not significant for children with merely grown nails but not harboring dirt under them (P = 0.355967).  Conclusions Mother-to-child transmission is one of the likely routes of transmission of H. pylori, and poor hand hygiene seems to play a major role in this process.

Severe Acute Malnutrition Presenting With Scurvy: A Case Report.

Scurvy is a disease caused by a lack of vitamin C. It is a nutritional deficiency that is associated with multiple severe conditions. Although developed countries report these cases rarely now due to advancements in food and nutritional supplements, they are still prevalent in developing countries, albeit rare, because of poor nutritional status. Due to the lower prevalence of scurvy, diagnosis is delayed in the majority of cases and sometimes missed completely, which results in serious complications and unnecessary workups. Here, we present a rare case of a four-year-old female child with severe acute malnutrition (SAM) presenting with scurvy. The initial clinical signs showed SAM. X-ray and MRI of the left femur and knee were done to further evaluate the orthopedic parameters. Clinical presentation and radiographic imaging confirmed all the signs of scurvy. The patient was started on the Formula 75 (F-75) diet to address the severe malnutrition, and steady weight gain was observed.

Dyselectrolytemia in Children With Severe Pneumonia: A Prospective Study.

Background Pneumonia is a condition characterized by inflammation of the lung parenchyma. It is one of the leading causes of mortality in children below five years of age. While predominantly prevalent in developing countries, it is also associated with significant healthcare-associated costs in developed countries. Among the many risk factors for childhood pneumonia, incomplete immunization, nonexclusive breastfeeding for less than six months, delayed weaning, poor household air quality, malnutrition, and low birth weight are the most commonly found. Electrolyte disturbances, also known as dyselectrolytemia, have been associated with a broad spectrum of acute infections, including pneumonia, particularly hyponatremia. It occurs in the majority of community-acquired pneumonia. Hyper- and hypokalemia are less frequently occurring electrolyte disturbances. Electrolyte disturbances are due to impairment of the intrarenal mechanism of urine dilution due to extracellular fluid volume depletion and inappropriate secretion of antidiuretic hormone. The central nervous system is imminently affected by acute hyponatremia. This condition frequently culminates in cerebral edema, a result of the rapid fluid shift, and causes sudden fatality. Aim of the study This study aims to study dyselectrolytemia in children with severe pneumonia. Objectives The study objectives are to assess dyselectrolytemia in children with severe pneumonia and to correlate dyselectrolytemia with morbidity and hospital stay. Methodology  This prospective study was conducted on 80 children in the age group of two months up to five years who visited our tertiary care center and had severe pneumonia. We evaluated the extent of dyselectrolytemia in our study population by analyzing the frequency correlation of different kinds of electrolyte imbalances. We also analyzed the correlation between morbidity and hospital stay. Results Out of 80 children in this study with severe pneumonia, 47 (59%) had electrolyte imbalance. Among the patients with electrolyte imbalance, 31 (39%) patients had hyponatremia followed by hypokalemia in 12 (15%) patients, hypernatremia in 3 (4%) patients, and hyperkalemia in 1 (1%) patient. Among the 17 (21%) children with pneumonia requiring ICU admission, 16 (94%) had dyselectrolytemia and 4 (24%) experienced fatal outcomes. Conclusions The majority of the children who were admitted to the ICU had severe pneumonia along with electrolyte imbalance. This necessitates the monitoring of the electrolyte and nutritional status of the patients with pneumonia. Providing proper nutrition advice for children with pneumonia may reduce morbidity and mortality. Early detection and treatment of electrolyte imbalances in pneumonia cases can decrease prolonged hospital stays, ICU admissions, and the need for mechanical ventilation, ultimately contributing to a reduction in morbidity and mortality.

Congenital Absence of Patella: A Case Report.

Congenital absence of patella is a rare orthopedic condition characterized by an underdeveloped or complete lack of patella. This condition is very rare in isolation and is usually accompanied by other genetic syndromes. The prevalence is difficult to estimate as very few cases of this condition have been reported worldwide. Here, we report a case of congenital bilateral absence of patella in an 18-month-old female child who came with a chief complaint of inability to stand and walk without support, with hyperextension at the knee joint with no other associated abnormalities. The patient was started with active and resisted physiotherapy sessions that alleviated the condition of our patient.