Journal of Nepal Paediatric Society

ARID1A-Associated Coffin-Siris Syndrome: A Rare Case Report with Steroid-Resistant Nephrotic Syndrome and Single Kidney

2025-01-17T18:19:04+00:00

Coffin-Siris syndrome (CSS), a rare BAFopathy, is characterized by developmental delay, dysmorphic features, and variable anomalies. We report a 12-year-old boy with a novel ARID1A truncating mutation presenting with global developmental delay, facial dysmorphism, single kidney, and steroid-resistant nephrotic syndrome (SRNS). Genetic analysis confirmed a heterozygous p.Glu1017Ter mutation in ARID1A. This report expands the phenotypic spectrum of CSS by highlighting its association with glomerular disease, a previously unreported feature.

Progressive Pulmonary Disease in X-Linked Agammaglobulinemia despite Regular Immunoglobulin Replacement: A Case Report

2025-01-13T06:07:59+00:00

X-linked agammaglobulinemia (XLA) is characterized by early-onset recurrent bacterial infections, particularly affecting the respiratory tract. We report a 12-year-old male with XLA who presented with chronic cough and recurrent respiratory infections. Genetic testing confirmed a BTK gene mutation. Radiological findings revealed diffuse cylindrical bronchiectasis with bilateral bronchial wall thickening, and pulmonary function tests showed a mixed severe ventilatory pattern. Despite regular immunoglobulin replacement therapy, the patient developed chronic lung disease, highlighting the need for early diagnosis and aggressive management of respiratory manifestations.

Subgaleal Hematoma Without Obvious Cause in a Child: A Case Report

2025-01-23T06:54:28+00:00

Subgaleal hematoma in children beyond the neonatal period is generally caused by external factors, such as head trauma, or internal factors, such as coagulation disorders. Occurrence without an obvious cause is uncommon. A 5-year-old girl presented with swelling in the left parietal region. Computed tomography revealed a subgaleal hematoma, which spontaneously disappeared within 28 days. This report describes a rare case of subgaleal hematoma without an obvious cause in a child beyond the neonatal period that resolved without invasive treatments like needle aspiration, drainage, and surgery. Clinicians should consider conservative treatment as an alternative to invasive procedures in such cases.

Clinical and Laboratory Presentations in Children Admitted with Dengue Infection

2024-10-10T05:01:42+00:00

Introduction: Dengue fever, caused by the dengue virus, presents with a spectrum of symptoms, ranging from mild to severe. This study aims to identify common clinical symptoms and laboratory parameter abnormalities in children with dengue infection.

Methods: A prospective observational study was conducted at Patan Hospital over three months. Clinical signs, symptoms, and laboratory parameters of seropositive children for dengue were recorded using a structured proforma.

Results: During the study period, dengue fever accounted for 24% (104) of admissions in the children’s ward. Among these, 61% tested positive for the NS1 antigen alone, 21% for both IgM and NS1, and 17% for IgM only. The male-to-female ratio was 1.6:1, with an average age of 7 years (±4.37). 46.2% (47) had dengue without warning signs, 51.9% (57) had dengue with warning signs, and 1.9% (2) had severe dengue. Fever was present in all cases, with an average duration of 3.88 days. Vomiting, abdominal pain, head ache and epistaxis was present in 31.7%), 27.9%, 20.2%, 16.3% respectively. Hypotension was noted in 7.7% (8) of cases. Laboratory findings showed that 50% had a white blood cell count below 4000, and 54.8% had a platelet count below 150,000, with 12.2% below 50,000. Serial tests indicated elevated hematocrit levels in 35 patients. Most children were hospitalized for 4-6 days, with a mean stay of 4.65 days (±1.90).

Conclusion: Dengue fever is a prevalent infection in children, typically presenting with high fever, vomiting, abdominal pain, headache, hypotension, low platelet count, elevated hematocrit, and leucopenia.

Clinical Profile and Outcomes of Neonates with Hyperbilirubinemia Undergoing Double Volume Exchange Transfusion- A Single Centre Experience

2025-03-31T09:45:54+00:00

Introduction: Hyperbilirubinemia is one of the most common conditions observed in neonates. Double Volume Exchange Transfusion (DVET) is the most efficient treatment to rapidly reduce the alarmingly high serum bilirubin levels.

Methods: This was a retrospective descriptive study of babies who underwent DVET for neonatal hyperbilirubinemia over a five year period.

Results: Total 36 babies fulfilling the inclusion criteria were analysed. The mean age of jaundice onset was 41.77 ± 39.79 hours and mean total serum bilirubin (TSB) at admission was 22.54 ± 10.73 mg / dl. Bilirubin induced neurological damage (BIND) was seen in 14 babies at admission. Babies with BIND had significantly higher bilirubin at admission (p - 0.002) and significantly late presentation (p - 0.034) compared to babies with no BIND. Rh hemolytic disease was the most common etiology (55.56%). Most common complication of DVET was thrombocytopenia followed by hypocalcemia. All babies with no BIND had normal neurological examination at discharge. One baby with BIND had abnormal neurological findings at discharge. There was no mortality.

Conclusion: DVET is a safe and effective therapy for alarmingly high bilirubin. Timely management with DVET can prevent complications of BIND.

Diagnostic Accuracy of Axillary and Forehead Thermometer Compared to Tympanic Thermometer among Children

2024-07-23T06:32:01+00:00

Background and objectives: Fever is a common manifestation of illness among children which results from infectious and non-infectious processes. Different types of measuring instruments are used at various sites to monitor body temperature. No methods accurately approximate peripheral body temperature to core temperature. This study aimed to determine the diagnostic accuracy of axillary and forehead thermometers in comparison with tympanic thermometer among children (1 to 5 years) and to compare the comfort during the three measurements.

Methods: This observational study of diagnostic accuracy had a sample consisted of 728 consecutively selected children. Temperature measured using forehead thermometer (index test), axillary thermometer (comparator) and tympanic thermometer (reference test). Sensitivity and specificity were calculated. COMFORT-B scale used to assess comfort. Reporting format- STARD-2015.

Results: The sensitivity and specificity for axillary method were 93%, 94% and for forehead thermometer were 95%, 96% respectively. The Receiver Operator Characteristics- Area Under the Curve (ROC AUC) for axillary thermometer was 0.982 and for forehead thermometer 0.99. Median (IQR) scores were 14 (7) for axillary and 14 (6) for forehead and tympanic measurements. The median comfort scores were statistically not statistically significant. (p>0.05).

Conclusion: Both methods were good as screening methods for fever in children in the age group of 1-5 years. The forehead thermometer had a better diagnostic performance and accuracy and more comfortable.

Neutrophil Counts in Hospitalised VLBW and ELBW Neonates – A Prospective Observational Study

2024-07-22T03:55:57+00:00

Introduction: Early onset sepsis (EOS) is an important cause of morbidity and mortality in new born babies with diagnostic challenges. The role of neutrophil count in EOS in neonates has been studied extensively but with varying results.

Methods: This was a prospective observational study conducted among VLBW neonates admitted in our neonatal intensive care unit (NICU) between October 2014 to June 2016. Complete blood count (CBC) was carried out for all neonates enrolled in the study. Our primary objective was to study the neutrophil count in very low birth weight (VLBW) neonates. Our secondary objectives were to study the total leucocyte count (TLC) along with neutrophil count on day one in neonates with EOS and to study neutrophil count in VLBW neonates born to mothers with pregnancy induced hypertension (PIH).

Results: Among 175 neonates, 92(52.6%) were males and 83(47.4%) were females. The mean birth weight was 1105 ± 241 gm. Neutropenia was observed among 10 neonates on day 1 with a mean neutrophil count of 791.2 ± 315.8/µL. Neutrophilia was observed among 27 neonates on day 1 with a mean neutrophil count of 9054.2±3361.4/ µL. Four out of 10 neonates with neutropenia on day 1 had EOS in comparison with 18 out of 165 neonates without neutropenia and the results were statistically significant (p=0.024). However, there was no significant association between PIH and neutrophil count.

Conclusions: Neutrophil count is a valuable indicator of sepsis among VLBW neonates. Low neutrophil count has significant association with EOS among VLBW neonates.

Patterns of Illicit Substance use Among Children in Western Province of Sri Lanka – A Cross-Sectional Study

2024-09-09T04:28:03+00:00

Introduction: Illicit substance use among children is a significant public health concern with profound impacts on their physical, mental, and social well-being. Understanding the demographic and geographic patterns of substance use is crucial for targeted interventions. This study aims to analyse the prevalence, age and gender patterns, and geographic distribution of illicit substance use among children aged 12 - 17 years in the Western Province of Sri Lanka.

Methods: A cross sectional study was conducted among 69 children who tested positive for substances through urine toxicology screening in the Western Province. Data were collected from four institutes in Sri Lanka from February 2020 to February 2024. Statistical analysis, including Pearson correlation, assessed the impact of age and gender on substance use.

Results: The mean age was 16 years, with a positive correlation between age and substance use (R = 0.409, P = 0.0004). Males constituted 91.3% of users, and gender significantly influenced substance use patterns (R = 0.393, P = 0.0008). Tetrahydrocannabinol (THC), methamphetamine and opioid were the most common substances abused. Multiple substances abuse was seen in 16%. Colombo and Gampaha districts seem to be most affected.

Conclusions: The study reveals that THC is the commonest substance abused. There is significant age and gender disparities in substance use, with older males at higher risk. Geographic patterns highlight greater use in urban areas.

Postnatal Growth Pattern of VLBW Infants Admitted at Patan Hospital - A Prospective Observational Study

2024-09-09T04:19:51+00:00

Introduction: Very low birth weight (VLBW) infants (birth weight < 1500 g) comprise about one-third of neonatal deaths. Regular growth monitoring of these infants helps in assessing their nutritional status and identifies those with inadequate weight gain. Studies on postnatal growth velocities in VLBW infants have not been published so far in Nepal. Hence, this study aimed to describe postnatal growth pattern of VLBW infants admitted at Patan Hospital.

Methods: It is a prospective observational study on VLBW infants admitted at Patan Hospital between March 17, 2021 and March 16, 2022. Weight, length, and head circumference (HC) were recorded and plotted on Fenton growth chart regularly until discharge. Data was entered into Microsoft Excel and analysed with SPSS version 25.

Results: Seventy-two VLBW infants were admitted during the study period. Fiftyseven infants survived till they regained their birth weights and were included in final analyses. The mean weight gain velocity calculated from birth until discharge was 10.72 ± 2.98 g / kg / d and that after regaining birth weight was 17.33 ± 4.67 g / kg / d. These infants gained their length and HC on an average of 1.21 cm / week and 0.79 cm / week respectively. The incidence of postnatal growth failure at the time of discharge was 61.40%.

Conclusions: The growth velocities in our VLBW infants is comparable to the standard recommended intrauterine rates. A large multi-centre prospective study is recommended to validate findings of this study

School Nurses in Child Protection: A need for Capacity Development

2024-10-04T15:31:17+00:00

Child abuse has been considered a public health and social problem in Nepal. More than 88.0% of children experiencing child abuse in their homes in one form or another throughout their lifetime. School nurses play a vital role in promoting the health and well-being of students, providing essential healthcare services, and addressing various health issues. Their role in safeguarding children by educating children, teachers, and parents, recognizing abuse and neglect cases, and responding with proper mechanisms is vital. However, nurses working in most schools are young and do not have experience with child abuse and have not received any child protection training. They are not clear about their role in protecting children and seem to lack knowledge and practice in protecting children despite having a good attitude. There is a growing need for capacity development to enhance the effectiveness of school nurses in safeguarding the health of children and adolescents. Capacity development in this field is essential to ensure that school nurses are equipped with the necessary skills and knowledge to address the complex health challenges facing children and adolescents today. Investing in the capacity development of school nurses, their ability to protect and promote the health and safety of students can be ensured, ultimately leading to better outcomes for the entire school community This paper discusses about the crucial role of school nurses in protecting children and adolescents and the importance of training, resources, and support for school nurses and the need for capacity development to effectively address the diverse health needs of students and create a safe and healthy school environment.