Chemotherapy induced juvenile dermatomyositis: a novel presentation- a case report.

BACKGROUND: Idiopathic connective tissue disease juvenile dermatomyositis (JDM) is characterised by inflammatory myositis and distinctive skin abnormalities. Only a few cases of Dermatomyositis (DM) owing to chemotherapy used to treat cancer have been reported, despite the fact that the link between DM and cancer in adults is widely known. We describe the case of a female, age 14, who experienced DM as a side effect of chemotherapy following enucleation for retinoblastoma. We also discussed our patient's likely pathophysiology of JDM after treatment. CASE PRESENTATION: A 14-year-old female came to our facility complaining of trouble walking and bluish-black discoloration on her neck, elbows, forehead, and knees that had been present for eight months. The patient had undergone enucleation of the left eye due to retinoblastoma, followed by 40 cycles of radiation therapy and 13 cycles of chemotherapy with Cyclophosphamide, Etoposide, Carboplatin, Vincristine, and Dactinomycin. Her serum LDH and CPK levels were high, and she tested positive for ANA. The muscle biopsy was consistent with the changes of DM. When electromyography was performed, it revealed tiny, fibrillating, polyphasic motor unit potentials and sharp, positive waves that were suggestive with DM. A diagnosis of JDM was made after taking into account the symptoms, biochemical data, muscle biopsy, and electromyography results. The patient's symptoms started to get better once methotrexate and oral corticosteroids were started. CONCLUSION: This case report emphasises the value of ongoing observation after cancer chemotherapy because specific cutaneous and muscle symptoms may lead paediatricians to consider the possibility of chemotherapy-induced JDM, which is uncommon in young patients.

Concurrent central diabetes insipidus and cerebral salt wasting disease in a post-operative case of craniopharyngioma: a case report.

BACKGROUND: Water and electrolyte disorders commonly encountered in children post-surgery involving hypothalamus and posterior pituitary, are central diabetes insipidus, syndrome of inappropriate secretion of anti-diuretic hormone and cerebral salt wasting disease. Delayed diagnosis and inadequate management of such cases may lead to worsened neurological outcomes with a high mortality rate. CASE PRESENTATION: Here we report the case of a 7-year-old girl who underwent surgical resection of a craniopharyngioma, following which she initially developed central diabetes insipidus. However, later on in the course of her illness she developed symptomatic hyponatremia with natriuresis which was diagnosed to be due to cerebral salt wasting disease. This combination of central diabetes insipidus and cerebral salt wasting syndrome is a rare occurrence and poses a diagnostic challenge. Diagnosis and management can be even more difficult when these conditions precede or coexist with each other. CONCLUSION: In such cases development of hyponatremia should always prompt consideration of unusual causes like cerebral salt wasting disease in addition to the classically described syndrome of inappropriate secretion of anti-diuretic hormone. Hence, a thorough knowledge of these disorders along with intensive monitoring of fluid and sodium status is critical for timely diagnosis and management of these patients.

A Case of Ectopic Ureter With Right Atrophied Kidney in a Pediatric Patient.

An ectopic ureter (EU) is a ureter that does not connect appropriately to the bladder and drains somewhere other than the urinary bladder. Ectopic ureter is not so common in kidney anomalies. In men, the EU usually opens near the prostate into the urethra; however, in females, it mainly opens into organs of reproduction or into the urethra. Differential diagnosis of urinary incontinence from other causes, such as EU has a potential cure through surgery. Most women with ectopic ureters have duplex kidneys. An EU emptying a single-system ectopic dysplastic but functioning kidney is uncommon, especially in females. Computed tomography and magnetic resonance imaging provide a clearer image of the ectopic kidney. The surgical techniques used to correct this type of EU are determined based on the functioning of the kidney and anomalies related to the EU site. This is a case of a 9-year-old female who presented with complaints of dribbling urine, which was discovered to be caused by an ectopic ureter with an atrophic kidney.

A Rare Presentation of Edwards Syndrome in a Three-Month-Old Infant: A Case Report.

Edwards syndrome, also known as trisomy 18, is a rare chromosomal disorder associated with multiple congenital anomalies and high morbidity. This report presents the case of a three-month-old female infant diagnosed with Edwards syndrome, presenting classic phenotypic features, including low-set ears, micrognathia, and a rocker bottom foot. The infant's condition was further complicated by cardiac abnormalities and respiratory distress, necessitating a comprehensive, multidisciplinary approach involving pediatricians, cardiologists, and orthopedic specialists. The diagnostic journey involved addressing challenges related to respiratory distress syndrome, bronchiolitis, and cardiac complications. The management approach underscored the significance of individualized care tailored to the patient's unique needs. Genetic counseling played a pivotal role in providing essential support to the family facing the complexities associated with Edwards syndrome. This case report highlights the intricacies of Edwards syndrome and contributes to the ongoing discourse on refining clinical strategies for enhanced care and compassionate support. Additionally, it emphasizes the need for further research to advance our understanding of this condition and guide future interventions.

A Comprehensive Review of Inhaled Nitric Oxide Therapy: Current Trends, Challenges, and Future Directions.

This comprehensive review explores the multifaceted landscape of inhaled nitric oxide (iNO) therapy, tracing its historical evolution, mechanisms of action, clinical applications, challenges, and future directions. The nitric oxide signaling pathway, characterized by vasodilatory effects and anti-inflammatory properties, forms the foundation of iNO's therapeutic efficacy. Clinical applications are found in neonatal respiratory distress syndrome, pulmonary hypertension, and acute respiratory distress syndrome, showcasing its versatility. However, challenges, including cost considerations, technical intricacies, safety concerns, and resistance, highlight the nuanced landscape surrounding iNO therapy. Implications for clinical practice underscore the need for a tailored and evidence-based approach, considering individual patient characteristics and indications. Recommendations for future research emphasize ongoing exploration, novel indications, and the development of targeted therapies. In conclusion, this review positions iNO as a dynamic and adaptable intervention, poised to reshape therapeutic strategies and enhance patient outcomes in critical care.

A Rare Case of a Subgaleal Hematoma With Global Developmental Delay, Scurvy, and Congenital Toxoplasmosis, Rubella, Cytomegalovirus, Herpes Simplex, and HIV (TORCH) Infection.

This case report details the complex presentation of a six-year-old female child with global developmental delay (GDD), scurvy, congenital toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and HIV (TORCH) infection and a subgaleal hematoma. The patient's medical history included delayed developmental milestones, bilateral congenital cataract, and a previous generalized tonic-clonic seizure. Thorough investigations revealed cerebral atrophy, bilateral ventricular dilatation, and periosteal thinning consistent with scurvy. The interdisciplinary approach involving neurology, ophthalmology, and orthopedics resolved the subgaleal hematoma. This case underscores the intricate interplay of neurological, nutritional, and infectious factors in pediatric conditions and highlights the importance of a collaborative, multidisciplinary approach for accurate diagnosis and effective management.

An Atypical Presentation of Cerebellar Abscess: A Case Report.

An infratentorial abscess is a medical emergency. Common sources of abscesses are otogenic foci, sinusitis, or dental abscess, rarely congenital defects like dermoid cysts with sinus along with cerebrospinal axis can lead to infratentorial abscess. This case report describes a four-year-old girl with pus discharging from the occipital area. Radiological imaging revealed a cerebellar abscess with the sinus tract open exteriorly through an occipital cortical defect with obstructive hydrocephalus. The patient underwent neurosurgical intervention followed by antibiotic therapy. Histopathology of the tissue sample was suggestive of a dermoid cyst. Congenital defects should not be ignored. All newborns should have a thorough physical examination to identify birth defects. As these defects can cause life-threatening complications, early recognition with early surgical intervention is the treatment of choice.

A Comprehensive Review on Unveiling the Journey of Digoxin: Past, Present, and Future Perspectives.

Digoxin, a cardiac glycoside derived from the foxglove plant (Digitalis spp.), has been utilized for centuries in managing various cardiac conditions due to its ability to increase myocardial contractility and regulate heart rate. This comprehensive review explores the historical context, pharmacological properties, clinical applications, efficacy, safety profile, challenges, and future perspectives of digoxin. Tracing its journey from traditional medicine to modern cardiovascular therapeutics, we delve into its mechanism of action, therapeutic indications, and clinical guidelines. While digoxin remains a cornerstone therapy for heart failure and atrial fibrillation, its narrow therapeutic index and individual variability in response pose challenges in clinical practice. Nevertheless, ongoing research efforts aim to elucidate its role in emerging therapeutic areas and technological advancements in drug delivery. Despite the advent of newer pharmacological agents, digoxin's enduring relevance lies in its established efficacy, affordability, and global accessibility. This review underscores the symbiotic relationship between tradition and progress in cardiovascular medicine, highlighting the timeless pursuit of medical innovation to optimize patient care.

Sprengel's Deformity: A Paediatric Case Report.

Sprengel's deformity is a conspicuous anomaly, affecting one or both scapulas. The congenital elevation of the scapula is frequently accompanied by additional anomalies, such as rib, vertebral, or muscular deformities, among which are rib fusion or vertebral deformity. Defects in the cervical vertebrae are most likely to result in Klippel-Feil syndrome, which is characterised by a short neck, restrictions on head mobility, and low-growing neck hair. Fewer than half of the instances had scoliosis, which is compensatory due to efforts to straighten the spine. The present case report was the case of Sprengel's deformity reported to our department.

A Rare Pediatric Neurological Case: Dyke-Davidoff-Masson Syndrome Unprecedented at 10 Months.

This case report presents a rare occurrence of Dyke-Davidoff-Masson Syndrome (DDMS) in a 10-month-old male child, highlighting the atypical presentation of this neurological disorder in early infancy. The child initially presented with irritability, loss of appetite, and right-sided weakness following episodes of fever. A comprehensive medical history revealed the sudden onset of generalized tonic-clonic seizures, prompting further investigation. Diagnostic imaging, including CT and MRI, confirmed features consistent with DDMS, including cerebral hemiatrophy, ventricular enlargement, and calvarial thickening. Notably, the child's seizures were successfully managed with antiepileptic medication, leading to stabilized vital signs. This case emphasizes the importance of considering rare neurological disorders in pediatric patients with unusual presentations and underscores the challenges in diagnosing and managing DDMS in infancy. Further research is warranted to elucidate the underlying mechanisms, contributing factors, and optimal management strategies for DDMS in this age group.

Estimation of Prevalence of Thrombocytopenia in Cyanotic Congenital Heart Disease: A Cross-Sectional Study Among the Pediatric Population.

Background Congenital heart disease (CHD) is one of the leading causes of mortality in India, with the majority being attributed to cyanotic conditions. Hence, it is crucial to assess the factors that play a significant role in patient prognosis in heart defects of a child. The present cross-sectional study assessed the prevalence of thrombocytopenia in patients with cyanotic congenital heart defects (CCHD). The objectives of our study were to assess the levels of platelets in various cyanotic congenital heart defects and then infer the prevalence of thrombocytopenia in these patients as a whole.  Methodology The study population comprised children aged fifteen days to twelve years with two-dimensional (2D) echocardiography confirmation of CHD; those who were critically ill, had proven sepsis, and were not willing to participate in the study were excluded. Blood samples of enrolled patients were obtained and collected in ethylenediamine tetraacetic acid (EDTA) tubes for assessment. The prevalence was then calculated. Results were obtained and interpreted based on these observations. Result Out of 268 children with CHD, 52 reported thrombocytopenia, and the prevalence rate was found to be 19.4. The comparative analysis of thrombocytopenia showed a significant p-value only in cases with total anomalous pulmonary venous connection (TAPVC). Conclusion Patients with cyanotic congenital heart defects are often diagnosed with various hematological derangements, and while hemoglobin levels are usually seen to rise, significant thrombocytopenia is reported in these patients. The low platelet counts often pose a risk peri-surgically and can also affect the surgical outcomes of the patient. Therefore, it is imperative to study further the relationship between thrombocytopenia and an independent risk factor for patient prognosis in patients of CCHD.

Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report.

Spinal muscular atrophy (SMA) indicates a set of inherited autosomal recessive genetic disorders, where, specifically, the anterior horn cell motor neurons in the brain and spinal cord are affected, leading to a severe form of hypotonia and muscle weakness. The incidence is exceptionally rare, commonly manifesting as slowly progressive muscular weakness and atrophy of lower limbs. As per our existing knowledge, this is the first case of SMA associated with hyperlordosis in a patient. Hyperlordosis is a deformity in spinal curvature characterized by an excessive forward spinal curve in the region of the lower back, forming the characteristic C-shape curvature in the lumbar region, just above the buttocks. Parents brought an 11-year-old male child with complaints of inability to get up from a sitting position along with difficulty in walking for the past six months. Upon physical examination, deep tendon reflexes were absent; there was severe hyperlordosis, proximal limb weakness, and notable hypotonia. In our study, we aim to understand the clinical presentation, impact, and association of hyperlordosis in a child diagnosed with SMA. This case report describes the complaints and successful diagnosis of a patient of survivor motor neuron (SMN) gene-related SMA along with severe hyperlordosis backed by evidences of electrophysiology and neuropathology. However, a complete cure and normal lifestyle are not possible due to the lack of affordable and easily accessible therapies.

Illuminating Progress: A Comprehensive Review of the Evolution of Phototherapy for Neonatal Hyperbilirubinemia.

This comprehensive review thoroughly examines the historical evolution, physiological foundations, and contemporary advancements in the application of phototherapy for neonatal hyperbilirubinemia. Neonatal hyperbilirubinemia, a common condition resulting from the immature hepatic processes in newborns, poses potential risks, including neurotoxicity, if left untreated. The review traces the historical progression from early recognition of neonatal jaundice to the development of various phototherapy modalities, showcasing the dynamic landscape of neonatal care. Emphasizing the physiological intricacies of bilirubin metabolism in neonates, the study underscores the vulnerability of newborns to hyperbilirubinemia due to delayed hepatic maturation. Phototherapy is a cornerstone in managing hyperbilirubinemia, demonstrating consistent efficacy in reducing unconjugated bilirubin levels. The implications for clinical practice are significant, offering healthcare professionals insights into tailoring treatment strategies based on individual neonatal characteristics and the severity of jaundice. Integrating advanced monitoring and control systems enhances the precision and safety of phototherapy. Recommendations for future research emphasize the need to investigate long-term outcomes, explore adjunctive therapies, and address resource limitations to ensure global access to effective neonatal care. Overall, this review contributes to the ongoing refinement of neonatal care practices, offering a comprehensive understanding of neonatal hyperbilirubinemia and its evolving treatment landscape.

Unlocking Vitality: A Comprehensive Review of Vitamin D's Impact on Clinical Outcomes in Critically Ill Children.

This comprehensive review explores the multifaceted role of vitamin D (VD) in critically ill children, examining its implications for clinical outcomes. Although this substance has long been known for its function in maintaining bone health, it is now becoming more widely known for its extensive physiological effects, which include immune system and inflammation regulation. Observational research consistently associates VD levels with outcomes like duration of hospitalization, mortality, and illness severity in critically ill pediatric patients. Mechanistically, it exerts anti-inflammatory and endothelial protective effects while modulating the renin-angiotensin system. Increasing VD levels through supplementation presents promise as a therapeutic strategy; however, further research is necessary to elucidate optimal dosage regimens and safety profiles. This review emphasizes the significance of comprehending the intricate relationship between VD and critical illnesses among pediatric populations.

Immersive Innovations: Exploring the Diverse Applications of Virtual Reality (VR) in Healthcare.

Virtual reality (VR) has experienced a remarkable evolution over recent decades, evolving from its initial applications in specific military domains to becoming a ubiquitous and easily accessible technology. This thorough review delves into the intricate domain of VR within healthcare, seeking to offer a comprehensive understanding of its historical evolution, theoretical foundations, and current adoption status. The examination explores the advantages of VR in enhancing the educational experience for medical students, with a particular focus on skill acquisition and retention. Within this exploration, the review dissects the applications of VR across diverse medical disciplines, highlighting its role in surgical training and anatomy/physiology education. While navigating the expansive landscape of VR, the review addresses challenges related to technology and pedagogy, providing insights into overcoming technical hurdles and seamlessly integrating VR into healthcare practices. Additionally, the review looks ahead to future directions and emerging trends, examining the potential impact of technological advancements and innovative applications in healthcare. This review illuminates the transformative potential of VR as a tool poised to revolutionize healthcare practices.

A Unique Presentation of Acute Biliary Ascites Due to Spontaneous Biliary Duct Perforation With Bowel Obstruction: A Case Report.

Biliary ascites due to spontaneous biliary duct perforation is a rare case presentation usually seen in the paediatric age group of 6-36 months. We are presenting the case of a 14-month-old baby with abdominal distention associated with abdominal pain, vomiting, fever, and a history of no passage of stools. Upon examination, the abdomen was tense and tender. On radiological investigations, gross free fluid was present in the abdominal cavity along with bowel obstruction and partial situs inversus of the spleen and stomach. The bowel obstruction was relieved by rectal stimulation, after which oral feeds were well tolerated. Bilious fluid was found on diagnostic paracentesis, confirming the diagnosis. The patient was managed further by broad-spectrum antibiotics and drainage of the free fluid. The management ranges from conservative treatment to Roux-en-Y anastomosis. A non-surgical diagnosis is uncommonly seen and helps improve the patient's prognosis if detected early. This case report highlights the importance of early diagnosis and non-surgical treatment modality in critical patients.

Atypical Presentation of Wilson Disease: Unravelling a Clinical and Radiological Complexity in a Rare Case.

Wilson disease (WD) is an autosomal recessive disorder marked by aberrations in copper metabolism, leading to its accumulation in vital organs such as the liver, brain, cornea, kidneys, and heart. While WD typically presents with hepatic symptoms in early childhood, neuropsychiatric manifestations are more prevalent during adolescence. This case report highlights an extraordinary instance of WD in an eight-year-old girl, characterized by intricate clinical and radiological features. The patient exhibited atypical symptoms, emphasizing the importance of recognizing diverse presentations of WD. Delayed diagnosis and treatment initiation can prove fatal in WD cases, underscoring the significance of awareness regarding these unusual clinical and radiological features to facilitate prompt intervention and prevent adverse outcomes.

Navigating Idiopathic Masseter Muscle Hypertrophy in a 14-Year-Old Female Child: A Report of a Unique Case.

This case report documents the clinical journey of a 14-year-old female child experiencing bilateral swelling and pain in the mandibular region, suggestive of idiopathic masseter muscle hypertrophy. This condition, although relatively uncommon, can present itself either unilaterally or bilaterally. While cosmetic concerns, often denoted as a "square face," are commonly expressed by patients, additional symptoms like protrusion, bruxism, or trismus may also be present. The patient reported a gradual and asymptomatic bilateral bulging in the mandible angle region, with an explicit complaint of pain. The physical examination revealed bilateral masseter hypertrophy without accompanying local inflammatory changes. Diagnosing this condition necessitates discerning its characteristics, evaluating clinical and radiographic findings, and excluding more severe pathologies like parotid diseases, lymphangioma, and rhabdomyoma. In cases of diagnostic uncertainty, complementary tests are deemed appropriate. Treatment strategies range from conservative measures to surgical interventions. This investigation aims to fulfill its primary objectives by presenting a case study elucidating the intricacies of idiopathic masseter hypertrophy, detailing associated symptoms, and exploring the spectrum of potential treatment options. Through this exploration, we contribute to the evolving understanding and management of this unique condition, especially within the pediatric age group.

Beyond Skin Deep: A Case Report of Infantile Systemic Hyalinosis in a Six-Month-Old Infant.

A rare autosomal recessive condition called infantile systemic hyalinosis (ISH) is characterized by early-onset skin lesions that progress to the formation of numerous contractures. The underlying disease is the progressive accumulation of hyaline substances in many tissues. We are presenting the case of a male infant who was referred for evaluation and management at the age of six months. The infant had a history of recurrent episodes of diarrhea and showed limited movement in all four limbs. Upon physical examination, hyperpigmented papulonodular lesions on bony prominences and perianal regions were found, coupled with contractures in the elbow and knee joints. Hyaline deposition in the mid-dermal region was confirmed by histopathological analysis of a skin biopsy sample. The baby also had acute otitis media, which needed to be treated with antibiotics. Parents were counseled regarding the disease's diagnosis, complications, prognosis, and inheritance pattern. This case highlights the clinical presentation, diagnostic process, and management strategies employed in the care of ISH, emphasizing the importance of early recognition and multidisciplinary management in mitigating its devastating effects.

Complex Presentation of Congenital Heart Block and Coexisting Congenital Heart Disease in a One-Year-Old Girl: A Case Report.

Congenital complete heart block (CCHB) is a rare and potentially life-threatening condition, often associated with maternal autoantibodies. We present the case of a one-year-old girl with recurrent respiratory symptoms, ultimately diagnosed with CCHB and congenital heart disease. She exhibited bradycardia and signs of congestive heart failure. A diagnostic workup revealed significant cardiac abnormalities, including dilated chambers, ventricular septal defect, and patent ductus arteriosus. Serological tests for maternal autoantibodies were negative. The child's parents opted for discharge without surgical intervention. This case underscores the importance of comprehensive evaluation and management strategies in patients with congenital heart block, particularly in resource-limited settings.