Pediatric Education and Research

Mucopolysaccharidoses (MPS) are progressive diseases that are hereditary and are caused by mutations of genes coding for lysosomal enzymes needed for stepwise degradation of glycosaminoglycans GAGs.1 There are 11 known enzyme deficiencies which give rise to seven MPS types. Hunter disease or mucopolysaccharidosis-II is an X linked recessive disease and is due to deficiency of iduronate 2 sulfatase. This in turn leads to accumulation of glycosoaminoglycans (GAG), dermatan and heparan sulfate. The intracellular and extracellular accumulation of these substances leads to multisystem abnormality. A 7 year old male child came with clinical features of MPS but the type of MPS was difficult to ascertain clinically. The genetic study confirmed it to be Hunters disease or MPS type II. The clinical features of MPS are overlapping therefore genetic studies to confirm the diagnosis become essential to give appropriate enzyme replacement therapy.

Keywords: Hunter disease; Mucopolysaccharidosis; MPS type II.

Objective: To study the correlation between electroencephalograms (EEG), computed tomography (CT), and magnetic resonance imaging (MRI) brain with neurological result at 12 months in term neonates with hypoxic ischemic encephalopathy. Design: Prospective observational study. Materials and Methods: :The study has been conducted between August 2017 and August 2018. Termneonates with perinatal asphyxia and hypoxic ischemic encephalopathy were the subjects. All babies were managed as per standard protocol in a tertiary health care hospital in NICU (Neonatal Intensive Care Unit). EEG was done as soon as the baby was stable and CT brain within 7 days. MRI was done at 3 months. Neurodevelopmental assessment was done at 1 year. Results: Out four babies died of total 31, four babies died. 15 babies showed normal neurodevelopmental results at the age of 1 year. EEG results were normal in six babies and all of them had a normal neurodevelopment. Thirteen of the 14 babies with burst suppression pattern were abnormal. CT brain reports were normal in 14 babies and all of them had normal neurodevelopment while 11 of the 12 babies with cerebral edema had abnormal outcome. Of the 16 babies with normal MRI, 14 were normal, while all six babies showing abnormal signals in the cortex and thalamus had unfavorable outcome. Conclusions: Term newborn babies with hypoxic ischemic encephalopathy (HIE) and showing normal EEG & CT Brain results is associated with good neurological outcome. Babies showing Burst suppression pattern in EEG & bleeds & or hypodensities in the CT and involvement of basal ganglia/thalamus in the MRI are predictors of unfavourableunfavorable outcome.

Background: Respiratory distress in the neonatal period can be classified according to cause in abnormalities primarily affecting circulation or development of the thorax and aeration. In neonates the system which is majorly affected is the respiratory and the cardiovascular system, though for differential diagnosis abnormalities of chest wall, tracheobrochial tress, diaphragm and neuromuscular diseases also must be considered. The most effective and commonly used imaging modality in investigation of neonatal respiratory distress syndrome is Chest Radiography. The aim of this study was to assess and evaluate the role of chest X-ray in neonatal respiratory distress.1 Materials and methods: A prospective observational study was conducted in rural tertiary care center. A chest radiograph of 150 neonates were taken in anteroposterior view who came with chief complaint of respiratory distress. In all these patients, the chest radiography findings were noted and correlated with clinical findings. Results: Transient tachypnea of newborn is the most commonest cause of respiratory distress in neonates. Transient tachypnea of the newborn (TTNB) was the most common cause of respiratory distress (35.7%). Chest radiography had the highest sensitivity and specificity in pneu-mothorax (PTX), tracheoesophageal fistula, lobar emphysema, and diaphragmatic hernia (100%). Followed by pneumonia, radiography had 81.2% sensitivity and 86.5% specificity; for hyaline membrane disease (HMD), sensitivity and specificity were 80 and 89% respectively; for meconium aspiration syndrome (MAS), sensitivity was 60.5 and specificity was 81.7%; and for TTNB, sensitivity was 36.4% and specificity was 96%. Overall diagnostic accuracy was 59.7%, i.e., the final clinical diagnosis confirmed by CXR. Conclusion: A chest radiograph has high sensitivity for congenital diaphragmatic hernia (CDH), PTX, congenital lobar emphysema, tracheoesophageal fistula, pneumonia, and HMD and low sensitivity for TTNB. To sum up, a plain chest radiograph is an indispensable tool in neonates with respiratory distress, but as with any diagnostic modality, it has its own limitations.2

Keywords: Chest X-ray; Respiratory distress of newborn.

Hypoglycemia in neonates is a common clinical problem and is associated with wide variety of disorders. However, its definition, clinical significance, and management remain controversial. Studying the incidence may help to plan the services, identifying the risk factors associated with hypoglycemia, may help in preventing neurological damage due to neonatal hypoglycemia. Aims and Objectives: To study clinical profile of neonatal hypoglycemia. To study the causes responsible for neonatal hypoglycemia. Materials and Methods: All neonates admitted in NICU both Inborn and Outborn were included in the study and BSL less than 40 mg/dl was taken as hypoglycemic. Results: Fifty seven percent of the babies had hypoglycemia, out of which preterm babies had highest percent of hypoglycemia. Septicemia accounted for 65.3% of the hypoglycemic cases. Lethargy was the most common symptom among hypoglycemia. Home delivery also had significant association with hypoglycemia cases. Among the total death of the hypoglycemic babies, HIE III was the most common cause. Lab values well correlated with glucometer readings. Incidence of hypoglycemia was most during the first 3 hours of life.

Background: Hydrocephalus is a common condition in Paediatric Neurosurgery. In hydrocephalus there is dilatation of the ventricular system further causing compressive effects on the parenchyma. Hydrocephalus is a common and important process, a mechanical complication of many different pathologic conditions and a disease process itself. The morphologic features are easily recognizable, but the pathophysiology remains incompletely understood. It can be in communicative/non-obstructive or non-communicative/ obstructive forms. Neurosonogram and CT/MRI brain are the main investigations. Ventriculoperitoneal shunt remains the gold standard of treatment. Objective: To assess the neurosonographic features of children under 5 years of age with clinical signs of raised intracranial pressure suggestive of hydrocephalus. Therefore, it results in early detection and proper management. Patients and Methods: This is a retrospective study of neurosonographic findings in 70 children with signs of raised intracranial pressure suggestive of Hydrocephalus (42 boys and 28 girls) admitted in our department. The mean age of cases was 5.0 ± 4.2 months. Neurosonogram was done when there were clinical indications like congenital hydrocephalus, encephalocele, meningomyelocele, and meningitis. All scans were performed through the anterior fontanelle with a curvilinear probe using frequency transducer of 2–4 MHz. Results: Of the study group 57 cases had congenital hydrocephalus (81.3%). Postmeningitic hydrocephalus was seen in 12 cases (17.2%) while only 1 case (1.6%) was due to post-hemorrhagic cause. Of the 57 congenital cases 27 patients (47.3%), had cerebral aqueduct stenosis as their cause. 12 (21.2%) of the congenital cases were due to obstruction at the exit foramina of Luschka and Magendie causing the communicating type of hydrocephalus. Conclusion: Hydrocephalus is a common cause of neurological morbidity among infants in developing countries. Most cases have congenital origin and are most commonly due to cerebral aqueduct stenosis. Neurosonogram through the anterior fontanell is cheap, affordable, and more accessible than other imaging modalities. It should serve as the first line investigation of infants with suspected hydrocephalus for early detection and monitoring of progression to determine those cases that would require shunt operation, thereby reducing infant morbidity.

Keywords: Hydrocephalus; Pattern; Sonographic; Under five children; Management; Shunt.

Febrile seizures account for the most common form of seizures during childhood. In total 2–5% of children who usually present with febrile seizures lie between the age group of 6 months to 5 yrs. They usually have a very good prognosis. Febrile seizures are classified into two types-simple febrile seizures and complex febrile seizure. Objectives: To establish the clinical, epidemiologic and laboratory parameters of children suffering from febrile seizures admitted to Paediatrics ward was the main objective. The study duration was 1 year. Material and Methods: This is a prospective cross-sectional study. The study population was children with diagnosis of febrile seizures. The patient’s data was obtained, which was established on complete general and clinical examination, history and laboratory parameters. Results: During this study period, 150 children with febrile seizures were evaluated. The mean age of patients in our study was 26.2 ± 19.5 months. Eighty two patients (54.4%) were boys and girls accounted for Eighty eight patients (45.6%). Febrile seizures were more prevalent in the 12–24 months’ age group. This included 81 children (54%). There were very few cases that were from the age group of 36–48 months, which included only 10 children (6.75%). The average rectal temperature taken at the time of admission was recorded at 38.5 ± 0.67 °C. Conclusion: Febrile seizure is the most commonly benign disorder of the paediatric age group. It usually resolves on its own accord. Also there are rarely any sequels. In the management the most important is parental education and reassurance. Counselling about the nature of disease to the parents forms the mainstay of the disease.

Keywords: Seizures; Febrile; Clinical; Laboratory parameters.

Background: Diarrhea is a leading cause of childhood mortality in the world accounting for 5–10 million deaths/ year. In early childhood the single most important cause of severe dehydrating diarrhea is rotavirus infection. Rotavirus and other viruses causing gastroenteritis not only are major cause of paediatric mortality but also lead to signicant morbidity'. The Importance of rapid diagnosis of rotavirus infection has been stressed upon to initiate prompt rehydration therapy and prevent unnecessary use of antibiotics'. In the light of above, the present study is undertaken, to study the incidence, clinical features and the association of severe dehydrating diarrhea with rotavirus infection in rama medical college hospital, mandhna. Objectives of the study: 1. To study the incidence of rotavirus gastroenteritis in children b/n 3 to 24 months of age admitted to the pediatrics unit with acute diarrhea. 2. To study the clinical features of rotavirus diarrhea. 3. To study the association of severe dehydrating diarrhea with rotavirus infection. Methods: After obtaining approval from the institutional ethics committee, a descriptive and explorative study was conducted in the Department of Paediatrics in Rama Hospital, All Paediatric patients between 3–24 months of age admitted with a diagnosis of acute diarrhea] disease are included. Details were entered in a predesigned profonna which has detailed history, no. of episodes of loose stools, vomiting, fever. Then a detailed anthropometry, head to te examination and systemic examination is done. Dehydration is graded as no dehydration or some dehydration and severe dehydration according to WHO criteria. Stool samples were collected from the study population, only after informed and written consent was obtained. Stool samples once collected were transported to microbiology lab as soon as possible and were tested for rotaviral antigen by ELISA test. The information was collected and data was compiled and results obtained using SPSS version 20.0 and use of Microsoft excel. Results: The incidence of rotavirus infection in all acute watery diarrhoea among children between 3 and 24 months of age is 34 %. The incidence of rotavirus infection is greater among children between 3 and 12 months (82.4%), compared to children aged 13 = and 24 months (17.6%). The children with rotaviral diarrhea, 40 (58.8%) had fever, 45 (66.2%) had vomiting, 60 (88.2%) hid sotnedehydration, 8 (11.8%) had severe dehydration, 19 (27.9%) liad perianal excoriation. Out of 13 cases of severe dehydration 8 (61.5%) were due to rotaviral diarrhea and 5 (38.4 %) were due to non-rota viral diarrhea. Though the association between rotaviral diarrhea and severe dehydration is not statistically signicant, there are; positive trends for severe dehydration with rotaviral diarrhea than with non-rotaviral diarrhea. Conclusion: This study revealed that the association between rotaviral diarrhea and severe dehydration is not statistically signicant, there isbsitive association between severe dehydration with rotaviral diarrhea than with non-rotaviral diarrhea.

Keywords: Incidence of Rota Virus; Rota Viral Diarrhea in Children; Rotaclone.