Parveen Bhardwaj

Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia

Homocystinuria is an inborn error of amino acid metabolism in which homocystine accumulates in the blood and produces a slowly evolving clinical syndrome. We are presenting a case of a 4-year-old female child who presented to us with stroke and also had megaloblastic anemia. She was diagnosed as having homocystinuria type-1, and she responded to treatment.

Joubert syndrome with orofacial digital features

Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. Since the clinical findings of JS are quite heterogeneous, determination of radiological findings is essential.

Nerve conduction study in children with thalassemia

Background: Regular blood transfusion and iron chelation therapy has increased life span of children with Thalassemia and with prolongation of life expectancy the toxic effect of iron on nervous system are being increasingly reported. Aim was to study nerve conduction study in thalassemia children and effect of iron overload on NCV. Methods: 30 children with thalassemia on regular transfusions and iron chelation therapy and 30 healthy age and sex matched controls were subjected to nerve conduction study on three motor and sensory nerves. Statistical analysis used: means of quantitative variables were calculated in two groups and compared with student ttest. A p-value of <0.05 was taken as significant. Results: On comparing the results the between cases and controls, we found that, there was no significant difference in the distal latency, amplitude and nerve conduction velocity of all three motor nerves and sensory nerves which were evaluated. Cases were further divided in to two groups depending upon serum ferritin level of < and >1000ng/ml. On comparing these two groups it was noted that distal latency was increased, nerve conduction velocity was slow in all the motor nerves (i.e. median, ulnar and tibial nerves) and sensory nerves (i.e. median, ulnar and sural nerves) in group with serum ferritin level >1000ng/ml and these findings were statistically significant. Conclusions: We concluded that in children with thalassemia on regular transfusion and Iron chelation regime, nerve conduction study is normal in comparison to normal control but with progressive increase in serum ferritin level, the latency and conduction velocity is decreased and is statistically significant.

Demographic profile of pediatric malignancies in Himachal Pradesh

Context: Pediatric malignancy is on the rise worldwide, and it is imperative to know the profile of pediatric malignancy in different geographical areas so as to formulate effective strategy to its control. As there are no data from this part, especially the Himalayan region of North India, the present study was planned. Aims: The aims of this study were to study the pattern and demographic profile of pediatric malignancies at a tertiary care teaching hospital in Himachal Pradesh. Settings and Design: This was a hospital-based, prospective, nonrandomized, observational study. Subjects and Methods: Pattern and demographic profile of clinically suspected malignancies in children and adolescents (0–18 years) over a period of 1 year from June 2012 to May 2013 in the Department of Pediatrics and Radiotherapy. Statistical Analysis Used: Data were analyzed statistically using Epi Info software for all ratios and proportions. Results: A total of 31 children were diagnosed to have malignancy, which accounted for 0.86% of total admissions with a male-to-female ratio of 1.58:1.The three most common childhood malignancies were leukemia (29.03%), central nervous system (CNS) tumors (25.80%), and lymphoma (19.35%), and these were followed by Wilms tumor and hepatoblastoma, each accounting for 06.45% of total childhood malignancies. Hematological malignancies accounted for 48.38% and nonhematological malignancies for 51.62% of all the malignancies. Acute lymphoblastic leukemia was the most common hematological malignancy noted in 22.58%, followed equally by Hodgkins disease and non-Hodgkins lymphoma (20% of total hematological malignancies). Among nonhematological malignancies, CNS malignancies were the most common. In the age group of 0–5 years, all cases of neuroblastoma, yolk sac tumor, and ovarian tumor and 50% cases of hepatoblastoma and Wilms tumor were seen. In the age group of 5–10 years, leukemia (44.44%) was the most common malignancy followed by lymphoma (33.33%). In 14–18 years, CNS malignancies (50%) were the most common malignancies followed by lymphoma (33.33%). Conclusions: Hematological malignancies are the most common malignancies in the pediatric age group, and acute leukemia was the single most common pediatric malignancy, and CNS malignancies were the most common nonhematological malignancies.

Clinical profile and outcome of kawasaki disease in children in himalayan region of North India

Background: Kawasaki disease (KD) is an important cause of acquired heart disease with significant morbidity if not diagnosed and managed appropriately. It is usually under-diagnosed due to lack of knowledge regarding this entity among pediatricians and dermatologists. In this retrospective, tertiary care teaching institute based study clinical profile and outcome of KD in children from Himalayan region of north India was appraised. Methods: Clinical details of all the cases diagnosed as KD over 3 years from January 2011 to December 2013 were collected from inpatient files and outpatient follow-up clinical records. Results: Twelve children were diagnosed to have KD out of which seven had classical KD and five had incomplete KD. Mean age at presentation was 2.45 years and male to female ratio was 1.4:1. All children were treated with intravenous immunoglobulin and aspirin. Two out of 12 children had residual coronary artery disease at 6 weeks, 3 and 6 months of follow-up echocardiography. Conclusions: KD remains an important differential diagnosis for fever, rash, and lymphadenopathy in children <5 years.

Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) also called as arrhythmogenic right ventricular dysplasia (ARVD) is an inherited heart muscle disease that predominantly affects the right ventricle (RV). The main pathologic feature is the progressive loss of RV myocardium and its replacement by fibrofatty tissue. Clinical manifestations develop most often between the second and third decades of life and are related to ventricular tachycardia (VT) or ventricular fibrillation (VF), which may lead to sudden death in young people.

D-dimer: A useful marker in neonatal sepsis

Objectives: To measure D-dimer levels in neonatal sepsis and compare D-dimer as a marker of sepsis with the gold standard that is, blood culture and other established marker of sepsis like C-reactive protein, micro-erythrocyte sedimentation rate and total leucocyte count (TLC) in predicting sepsis. Study Design: Prospective observational hospital based study. Setting: Tertiary care hospital. Subjects: From November 2010 to October 2011, 936 neonates were admitted to the neonatal unit of Indira Gandhi Medical College, Shimla, Himachal Pradesh. Out of these, 355 neonates were admitted with suspected sepsis. Out of these, only 101 term neonates were without asphyxia and blood culture positive and were enrolled as cases, and 96 term neonates without the asphyxia admitted for neonatal jaundice without sepsis were enrolled as controls. Methods: All neonates, cases and control were investigated as per the protocol at admission and simultaneously the D-dimer levels were measured. D-dimer levels were evaluated in predicting neonatal sepsis and were compared with other established markers of sepsis in predicting sepsis. Results: In the study group, age ranged from 0 to 22 days with an average of 5.58 days. In the control group, age ranged from 0 to 23 days with an average of 5.62 days. Sex distribution was almost equal in both groups. The mean value of D-dimer in the cases and control group were 1.832 mg% and 1.365 mg% respectively. The study group had significantly higher values of D-dimer (P - 0.04). Sensitivity and negative predictive value of D-dimer in predicting sepsis were 90.0% and 84.4% respectively, the highest amongst all the markers studied in sepsis. Positive predictive value and specificity of TLC in sepsis was highest in all the marker studied. Negative predictive value of various markers was comparable in sepsis. Conclusion: D-dimer is a sensitive predictor of sepsis in neonates with a high sensitivity and negative predictive value. Hence, it should be included in the septic screening of newborns.

Autoimmune lymphoproliferative syndrome presenting as urticaria

Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder characterized by chronic splenomegaly, lymphadenopaphy hypergammaglobulinemia and autoimmune phenomena especially immune-mediated cytopenias. The disease is characterized by presence of double-negative (CD3 + CD4 − CD8 − ) T-cells in the peripheral blood and lymphoid tissue. Rarely it can also present as urticaria. We report a child of ALPS who presented to us with fever, generalized lymphadenopathy, chronic urticaria and hepatosplenomegaly.

Fever and rash: It can be Kawasaki disease

Kawasaki disease (KD) is an illness that involves the skin, mouth, and lymph nodes, and typically affects children who are under the age of five. The cause of KD is unknown, but if the symptoms are recognized early, children with the disease can fully recover within a few days. A generalized vasculitis of unknown etiology, early recognition and treatment of KD can reduce the development of potentially life-threatening coronary artery abnormalities.