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.

Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome's Rare Features Across Generations in a Familial Trilogy.

Oro-facial-digital syndrome, specifically Mohr syndrome, is an uncommon genetic disorder characterized by predominant oro-facial anomalies and polysyndactyly. While typically associated with autosomal recessive and X-linked dominant inheritance patterns, this case presents an autosomal dominant mode of transmission. This report documents the clinical presentation of three individuals, a 12-year-old male child and two females, 10-year-old and eight-year-old, who have inherited the disorder from their ancestors. The observed features include post-axial polysyndactyly in both upper and lower limbs, with the male child exhibiting additional manifestations of strabismus and knee joint defects. Symptomatic management is pursued due to the absence of complications, with surgical interventions and subsequent cosmetic repairs planned for all three children. Post-surgical physiotherapy is scheduled as part of their comprehensive treatment plan. The prognosis for this disorder is generally favorable, with a complete recovery anticipated and no complications expected.

Exploring Complexity: A Case Report of a Cystic Hygroma With Complex Congenital Heart Defects and Annular Pancreas in a One-Year-Old Child.

Lymphatic malformations frequently present as benign masses in the neck and clavicle region among infants and young children. Cystic hygroma represents an often-encountered form of lymphatic malformation. This case report details the medical history of a one-year-old girl characterized by a multifaceted medical background, initially exhibiting symptoms of persistent cough, cold, and neck swelling. Further investigations revealed more severe conditions: complex congenital heart defects, including large atrial septal defect (ASD), large ventricular septal defect (VSD), and aorta arising from the right ventricle with cystic hygroma and annular pancreas. The patient underwent various diagnostic tests, including chest X-rays, ultrasound, magnetic resonance imaging (MRI), and computed tomography pulmonary angiogram (CTPA), leading to multidisciplinary treatment involving sclerotherapy for cystic hygroma and supportive therapies. The case underscores the challenges in diagnosing and managing pediatric patients with overlapping conditions and the critical need for continuous follow-up.

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.

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.

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.

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.

The Early Presentation of a Classic Case of Tuberous Sclerosis: A Case Report.

Tuberous sclerosis (TS) is a potentially severe medical disorder that poses a life-threatening risk and can lead to drastic lifestyle changes. In infants and young children, the typical diagnostic criteria for this condition encompass cutaneous manifestations and seizures, and the development of cellular growths termed hamartomas, astrocytomas, myolipomas, and even carcinomas observed within the cardiac, cerebral, renal, and retinal tissues. The usual age of presentation varies widely, which affects the prognosis. We report a case of a four-month-old male patient who presented with early signs of TS. The patient showed signs of infantile spasms and seizures. On further examination, he had neurological, cutaneous, cardiac, and retinal manifestations, which pointed toward the diagnosis of TS. This case report emphasizes the importance of screening for TS at an early age due to the possibility of patients presenting earlier than the usual age of presentation. To the best of our knowledge, there is scarce data on this kind of early-onset signs of TS; therefore, we feel that it is imperative to start screening infants earlier to improve the prognosis and decrease the complications of this disease. The screening tests and the incidence of screening will vary based on the cost and availability of proper diagnostic and screening tests and the accessibility of efficient treatments.

An Atypical Presentation of Goldenhar Syndrome With Seizures: A Rare Case Report.

The Goldenhar syndrome also known as oculo-auriculo-vertebral dysplasia is one of the rare congenital defects that usually involves the impaired development of structures derived from first and second branchial arches such as ears, eyes, mandible, palate and various other structures of the face along with spinal abnormalities. The severity of Goldenhar syndrome anomalies can range from minor to severe, and patients with modest facial asymmetry to those with a highly evident facial abnormality. The most typical characteristics of this condition are dental ailments and impaired development of the mandible, maxilla, zygomatic, orbital, lips, tongue, and palate. It may also include hemifacial microsomia along with the cleft lip or cleft palate. The aetiology may include genetic and environmental factors but in most of the cases, the aetiology remains unknown. Gestational diabetes mellitus is also one of the leading risk factors associated with Goldenhar syndrome. The treatment and management depend upon the age of the patient and the clinical presentation. This case report describes an eight-year-old male child with generalised tonic-clonic seizures in all the limbs along with peri auricular skin tags, mandibular hypoplasia and esophageal stricture. There were no ocular findings or vertebral deformities.

Assessment of the Impact of a Short-Term Intervention on Menstrual Hygiene Practices of Adolescent Girls in Rural Parts of Central India.

Introduction Menstruation affects many young girls in a negative way in relation to their physical and psychological health despite being a reasonably common issue in daily life. Their health relies on their learning about fundamental menstruation hygiene. They have a significant risk of developing ailments due to their lack of education in this area. Young girls can avoid several preventable illnesses by being educated about menstruation hygiene and practices. Therefore, our study aimed to assess the impact of a health education intervention on the knowledge, attitude, and practice of teenage girls about menstrual hygiene. Materials and methods The current educational interventional study design evaluates the impact of an educational intervention on menstrual hygiene in teenage females. Adolescent girls were educated about the practices and taboos related to menstruation. They were assessed using a pretest and post-test after the intervention. The results of the pre- and post-study tests were compared, and the effect of the intervention was determined. Result A noteworthy observation of the study was that only 87 (34.8%) teenage girls were aware of hygienic practices before menarche. The didactic lecture had a favorable impact, and after two months, 2.40% of the 6.80% of females who changed their reusable pads just once a week began replacing them every two days. Additionally, a shift in hygiene behaviors was noted; 17.20% of the 33.60% of individuals started washing their hands with soap and water after changing their menstruation pads, which was significant (p=0.05). Conclusion The study assessed the impact of a short-term intervention on the menstrual habits practiced by adolescent girls. We concluded that an intervention in the form of educational counseling can significantly impact the menstrual hygiene practices of adolescent girls. Teaching teenage females resulted in a considerable improvement in their menstruation habits, which has a beneficial overall effect.

A Rare Case of Telecanthus-Hypospadias Syndrome in a Pediatric Patient.

Hypertelorism and hypospadias are the main characteristics of telecanthus-hypospadias syndrome; however, it can also include other midline structural anomalies, such as cleft lip and palate, cryptorchidism, congenital heart problem, laryngotracheal cleft, esophageal fistula, and irregular scrotum. Here, we describe an eight-year-old male who was brought to us for cleft lip repair, but upon evaluation, the other listed anomalies were discovered. He had hypertelorism, hypospadias, a ventricular septal defect, and a history of cryptorchidism. A multidisciplinary approach involved pediatricians, oral surgeons, cardiologists, and pediatric surgeons. The patient underwent surgery for first-stage hypospadias correction and was advised to follow up for additional surgery and maintenance procedures before being discharged. We wish to report this case with the aim to enlighten budding pediatricians and surgeons about this rare syndrome.

Neurodevelopmental Assessment in Children With Congenital Heart Disease by Applying the Denver Developmental Screening Test 2: A Prospective Cross-Sectional Study.

Background Congenital heart conditions often cause developmental delays and impact neurodevelopment throughout one's lifetime. Hence, it is crucial to analyze the impact that heart defects have on the developing brain of a child. The present cross-sectional study was undertaken given the paucity of studies on the developmental status in children with congenital heart diseases (CHDs) in central India, where we tried to evaluate and compare the prevalence of neurodevelopmental delay in individuals with different congenital cardiac disorders. The objectives of our study were, firstly, to utilize the Denver Developmental Screening Test 2 (DDST-2) to evaluate the neurodevelopmental conditions in children with CHD; secondly, to compare the neurodevelopmental state of children with acyanotic CHD (ACHD) and cyanotic CHD (CCHD); and thirdly, to ascertain the prevalence of developmental delay in children with CHD. Methodology The study population comprised children aged six months to six years with two-dimensional (2D) echocardiography confirmation of CHD; those who were critically ill, had genetic syndromes, and were not willing to participate in the study were excluded. The neurodevelopmental assessment was conducted using the DDST-2. The screening looked at each patient's progress in four areas: personal-social, fine motor-adaptive, language, and gross motor. Based on these observations, results were obtained and interpreted. Result Out of 82 children with CHD, the prevalence rate of developmental delay according to the DDST-2 was found to be maximum in the gross motor domain and the least affected in the social domain, which was similar to the analysis of developmental delay by developmental quotient (DQ). The comparative analysis of developmental delay in ACHD and CCHD according to the DDST-2 showed a significant P value only in the gross motor domain. Conclusion The DDST-2 is a straightforward screening tool for determining how well-developed infants with CHD are. The gross motor domain is the most frequently damaged in ACHD and CCHD, followed by the fine motor domain, and the social domain is the least affected. Cyanotic CHD patients are more susceptible to developmental delay than children with ACHD.

A Case Report on Copper Beaten Skull Appearance: A Forgotten Entity.

An uncommon autosomal dominant condition known as Crouzon's syndrome causes abnormalities of the skull and face. It accounts for 4.8% of all cases of craniosynostosis and is by far the most prevalent condition among them. The fibroblast growth factor receptor-2 (FGFR-2) gene mutation that leads to early suture line closure is the basis for the development of Crouzon's syndrome. It appears as a copper-beaten skull on radiographs, which may indicate a disruption of the brain's normal growth due to elevated intracranial pressure. This report describes a case of a four-year-old kid who exhibits the typical symptoms of Crouzon's syndrome like craniosynostosis, hypertelorism, and flattened nasal bridge. We also make an effort to investigate the connection between Crouzon syndrome and the emergence of a copper-beaten skull and related factors.

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.

A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report.

Treacher Collins syndrome (TCS) is a rare genetic disorder that affects craniofacial development due to malformation of the first and second branchial arches. The TCOF1 gene is mainly responsible for this condition. Here, we present a case of a 13-year-old adolescent girl with complaints of maligned teeth with conductive deafness. On clinical examination, she had retrognathia, a broad nose, maligned teeth, a high arch palate, and midfacial hypoplasia. On the basis of the clinical findings, a diagnosis of a mild-variant TCS was made as eyes were not involved and supportive treatment was given to the patient. The symptoms of the disease have a varying range of severity. Early diagnosis and supportive treatments, which include multidisciplinary treatment involving pediatrics, otolaryngologists, audiologists, orthodontists, and psychologists, are very important for the management of such cases.

Delayed Neurological Manifestation in Krait Bites Despite Anti-snake Venom Therapy.

A severe medical emergency that poses a life-threatening risk is envenomation from a snake bite. Among the several snake families, krait bites are known to result in neurological symptoms, including ptosis, headache, and sweating. A 12-year-old adolescent boy who had been bitten by a krait appeared in this instance. The patient showed neurological symptoms after receiving anti-snake venom (ASV). He had three rounds of ASV and made a full recovery. To the best of our knowledge, there have not yet been any reports of this kind of delayed neurological signs after a krait bite, despite getting ASV in the adolescent population.

A Case Report on Multisystem Inflammatory Syndrome After COVID-19 Infection in a 12-Year-Old Child.

Several new diagnostic and management challenges have evolved as a result of limited knowledge about the incidence of multisystem inflammatory syndrome in children (MISC) and its natural history which is caused by coronavirus disease 2019 (COVID-19) infection. There are no data on the long-term outcomes of the illness and MISC. A 12-year-old female child with no significant history was rushed to a emergency room with complaints of rashes all over her body for the past seven days, fever for the past five days, and altered sensorium for the last one day. The child tested negative for COVID-19 at first and then was found to be antibody positive for COVID-19. The child showed symptoms of the multisystem inflammatory syndrome, which involved the main alteration in liver functioning. This case is suggestive of how the COVID-19 virus causes alteration in liver functioning and its inflammation, including inflammation of other organs, which is called MISC.

Not all the bowlegs is rickets! (a case report).

Bowing of the legs is common in childhood. Most times it is considered to be rickets without considering other possibilities. Blount´s disease is a close differential diagnosis which is developmental deformity characterized by intorsion of tibia leading to varus angulation. This case report aims to encourage pediatricians to expand their vision and consider other possibilities when a case of bowing of legs is encountered. Here we report a case of a four-year-old boy with bowing of both legs noticed first at 2.5 years of age. There was no history suggestive of trauma. Development of the child was age appropriate in all domains. He was receiving treatment for rickets for 1.5 years in form of oral vitamin D3 and calcium supplementations. He had no other clinical signs of rickets like frontal bossing, widening of wrists, and rachitic rosary except bowing of legs. His biochemical parameters did not show any alterations that would support the diagnosis of rickets. Weight-bearing radiographs of lower limbs showed medial intorsion of bilateral tibia with metaphyseo-diaphysial angle to be 25º on the right side and 20º on the left side, which was beyond the physiological normal angulation, therefore he was diagnosed as a case of Blount´s disease, stage III as per Langenskiöld classification. All the bow legs is not always rickets in pediatric practice. Therefore, various differential diagnoses should be kept in mind as early diagnosis and intervention can change a child´s life.

Atypical haemolytic uremic syndrome with posterior reversible encephalopathy syndrome in an adolescent: a rare case report.

Atypical hemolytic uremic syndrome (aHUS) is a group of disorders that affect kidneys which is rare type of HUS that differs from classical hemolytic uremic syndrome (HUS) by absence of prodromal phase consisting of episodes of diarrhoea due to preceding shiga toxin E. coli (STEC-HUS) infection and is 5% of all HUS cases. Approximately 50% cases present with clinical triad of hemolytic anemia, thrombocytopenia and renal insufficiency. However, it can have unusual clinical features in form of central nervous system involvement. This case, of a 15-year-old Indian boy, is one such rare presentation of atypical haemolytic uremic syndrome associated with posterior reversible encephalopathy syndrome (PRES), or reversible posterior leukoencephalopathy syndrome (RPLS) who presented with anaemia, anasarca, papilledema, hypertension, episodic seizures and significant magnetic resonance imaging (MRI) brain findings. We report this uncommon combination of two syndromes to provide useful insight for clinicians to approach and diagnose such presentation in paediatric patients.

Mucormycosis in a case of multisystem inflammatory syndrome in children: "double trouble" (case report).

Multisystem inflammatory syndrome (MIS-C) in the pediatric age group is a clinical syndrome in children and adolescents which is recognized in association with a high local prevalence of Corona Virus Disease-2019 (COVID-19). Mucormycosis is a severe form of fungal infection and often affects immunocompromised patients. It is associated with high morbidity and mortality and is characterized by extensive angioinvasion and necrosis of the affected tissue. Currently, this dreaded mucormycosis is rising among COVID-19 pediatric patients during their treatment period or after their discharge from the hospital. It is also called COVID-19- associated mucormycosis (CAM) or black fungus. In the head and neck area, rhino-orbital-cerebral mucormycosis is the most common presentation and a fatal clinical entity associated with COVID-19 infections. There are several cases of mucormycosis reported in cases with COVID-19 infection, but there is limited data available for the development of mucormycosis in MIS-C. Here, we report a case of a nine years old girl who developed mucormycosis while suffering from MIS-C. The patient was brought to our institute with complaints of fever for 3 days associated with redness of the eyes and swelling behind both ears and bilateral conjunctival congestion. Subsequently, she started showing signs of end organ damage in form oliguria and deranged liver function. Her COVID-19 antibody titer was positive and hence was diagnosed as MIS-C. She had prolonged hospitalization during which she started developing black discoloration over the nose. The histopathology report of the lesion was suggestive of mucormycosis. Eventually, the patient died due to multiple organ dysfunction. There is not only an association of mucormycosis in COVID-19- positive patients, but it shows some association with its complications like MIS-C. There is very limited data available for the association of mucormycosis and MIS-C but early diagnosis and intervention play a vital role in the outcome of the patient.