Journal of Nepal Paediatric Society

A Quality Improvement Initiative on sustaining Kangaroo Mother Care Practices During COVID Pandemic

2022-01-06T03:04:35+00:00

Introduction: COVID-19 pandemic has affected the KMC practices in our SNCU. Lack of clear guidelines and training about continuing KMC in COVID-19 times has further lead to decrease in KMC practices.

Methods: This is a prospective single centered quality improvement study conducted in the inborn unit of a tertiary care hospital. Intervention phase was done in August and September 2020. Preterm mother-infant dyads who were admitted in the inborn Level 2 Neonatal care unit with birth weight less than 2000 grams were enrolled in this study. A QI team comprising of resident doctors, nurses and supporting staff and a lactation counsellor was formed. The potential barriers for prolonged KMC were evaluated using fish bone analysis. A variety of measures were introduced and subsequently tested by seven plan-dostudy-act (PDSA) cycles. Data on percentage of initiation of KMC was measured by bedside nurses on daily basis and the data was plotted on run chart every week during implementation phase.

Results: 116 eligible mother-infant dyads were studied during implementation period (50 days). We achieved our goal by step-wise implementation of changes through multiple PDSA cycles. The percentage of initiation of KMC among eligible preterm infants has increased from baseline of 43.4% to 83.3% and duration of KMC from 1.5 mean hours to 4.5 hours over a period of eight weeks.

Conclusions: Ongoing quality improvement measures increased the percentage of initiation and duration of KMC among eligible preterm infants without addition of extra man power.

Association between Serum Magnesium to Calcium Ratio with Level of Asthma Control in Children

2022-02-04T15:13:54+00:00

Introduction: Bronchial asthma is an inflammatory reversible obstructive airway disease. This study aims to determine the association between serum magnesium to calcium ratio with level of asthma control in children by comparing serum magnesium to calcium ratio between - children with well controlled, partly controlled and uncontrolled asthma.

Methods: An analytical cross sectional study was done on 90 children diagnosed with bronchial asthma between five to 12 years age from January 2019 to June 2020. Children were selected from the outpatient and inpatient departments of paediatric medicine of a tertiary care medical college hospital. They were classified into well controlled, partly controlled and uncontrolled groups as per Global Initiative for Asthma (GINA) assessment of asthma control in children. The serum magnesium to serum calcium ratio of these children were compared between the groups classified.

Results: Mean level of serum magnesium to calcium ratio in well controlled group was 0.29857 (SD 0.07633), partly controlled 0.2439 (SD 0.0532), uncontrolled 0.2545 (SD 0.04467), respectively. Serum magnesium to calcium ratio more than or equal to 0.3 was positively correlated with well controlled asthma. Comparisons of serum magnesium to calcium ratio of well controlled group with partly controlled, uncontrolled and both partly and uncontrolled were statistically significant.

Conclusions: Higher serum magnesium to calcium ratio is associated with well controlled asthma. In our study, serum magnesium to calcium ratio more than 0.3 is significantly associated with well controlled asthma.

Childhood Asthma and its Associated Factors Among Children Attending a Tertiary Level Hospital Kathmandu

2021-07-16T12:51:51+00:00

Introduction: Childhood asthma is one of the most common non-communicable chronic pulmonary diseases of children and causes considerable morbidity. Prevalence of childhood asthma has grown dramatically in developed as well as developing countries. The objective of the study was to find out the factors associated with childhood asthma among children attending Kanti Children’s Hospital, Kathmandu, Nepal.

Methods: Descriptive, cross-sectional study design was adopted and 152 parents were selected by using non probability purposive sampling technique. Data was collected using pre tested structured with an interview schedule after permission from concerned authorities. The data was analyzed by using descriptive and inferential statistic with SPSS IBM 16.

Results: The finding of the study revealed that various factors were associated with childhood asthma. Among child related factors, age of children 6 years and above (p-value = < 0.001, OR = 4.190, 95% CI: 1.814 - 9.678), absence of exclusive breast feeding (p-value = 0.021, OR = 2.14, 95% CI: 1.062 - 4.351), history of recurrent allergy and rhinitis (p-value 0.049, OR = 1.9117, 95% CI: .953 - 3.856) and influenza vaccine (p-value = 0.001, OR = 3.714 95% CI:1.691-8.157) and in maternal factors, history of asthma in mother (p-value = 0.002, OR = 13.662, 95% CI:1.729 - 107.994), and on environmental factors, presence of dampness at home (p-value = 0.001, OR = 3.7142, 95% CI: 1.5584 - 9.3408) were found to have significant association with childhood asthma.

Conclusions: It could be concluded that 50.7% of children were diagnosed as asthma. Several factors were associated with childhood asthma. Children age 6 years and above, lack of exclusive breast feeding, history of recurrent allergy and rhinitis and presence of dampness at home, maternal history of asthma and seeking of influenza vaccine were found significant association with childhood asthma.

Clinical Patterns and Outcome of Low Birth Weight Babies Admitted in NICU Tertiary Hospital of Western Nepal

2021-12-15T05:30:12+00:00

Introduction: Low birth weight (LBW) is one of the major determinants of neonatal morbidity and mortality. The survival and outcomes of LBW infants varied from hospital to hospital within a country. The objective of the study is to identify the clinical patterns and hospital outcome of LBW babies in a Tertiary care centre, Pokhara.

Methods: A descriptive cross-sectional study conducted in a tertiary hospital after taking ethical approval from the institutional review board. Data on all the LBW babies admitted in Neonatal Intensive Care Unit from 15th May 2019 to 16th October 2020 were retrospectively reviewed. Data entered in excel and descriptive analysis were done in SPSS version 25.

Results: Of 198 LBW babies, 120 (60.6%) were males and 78 (39.4%) females. Mean birth weight was 1.67 kg (± 0.42 SD), median 1.7 kg, ranging from 0.6 kg to 2.4 kg. Mean gestational age was 32.86 weeks (± 2.72 SD) and median was 33 weeks. 187 (94.4%) were preterm and 11 (5.6%) term. By birth weight, 17 (8.6%) were found to be ELBW, 53 (26.8%) VLBW and 128 (64.6%) LBW. 143 (72.2%) were AGA, 54(27.2%) SGA and one was LGA. Hyperbilirubinemia, neonatal sepsis and hypoglycemia were common problems encountered in NICU. Inadequate ANC, premature rupture of membrane, and low hemoglobin were the common maternal factors for LBW babies.

Conclusions: Prematurity was the major cause of LBW and majority were male babies. LBW babies had relatively more problems in NICU.

Effectiveness of Topical Steroid in Phimosis: A longitudinal Observational Study

2022-05-15T04:48:47+00:00

Introduction: Most non-retractile foreskins have been diagnosed with phimosis and referred for circumcision. However, many patients can be managed with corticosteroid cream. This study evaluates the effectiveness of the topical application of corticosteroid cream and manual prepucial stretching in the treatment of phimosis.

Methods: This was a longitudinal observational study carried out among children aged six months to 10 years with the diagnosis of phimosis between 1st September 2019 to 31st August 2020. The patients were advised to apply 1% Hydrocortisone cream together with manual prepucial stretching twice daily for four weeks. Patients were assessed at four weeks and six months at the outpatient clinic using Kirkos grading for retractability.

Results: A total of 110 patients were diagnosed with phimosis during the study period. Fourteen patients had pathological phimosis out of which four had balanitis xerotica obliterans and were excluded from the analysis. Ninetysix patients with physiological phimosis were treated conservatively with 1% hydrocortisone and manual prepucial stretching. Among them, 87 cases were successfully treated whereas five patients had a partial response with treatment failure in four cases. Those five cases with partial response underwent adhesiolysis while circumcision was performed in the remaining four patients with treatment failure. Prepucial retraction was possible in four weeks in most of the patients with physiological phimosis with successful results in 90.6% of cases.

Conclusions: All non-retractile prepuce are not pathological phimosis and doesn’t need circumcision. Local application of a potent corticoid cream and foreskin stretching is a safe, simple, and effective long-term treatment for physiological unretractable foreskin in children.

Evaluation of Peripapillary and Macular Nerve Fiber Layer Thickness in Paediatric Glaucoma Suspects

2022-01-18T15:44:17+00:00

Introduction: Glaucoma patients are known to have optic disc cupping, leading to loss of retinal ganglion cell axons. This peripapillary nerve thinness is known to be associated with glaucoma in adult patients. Hence, we intended to evaluate the peripapillary and macular nerve fiber thickness in eyes of pediatric glaucoma suspects using spectral domain optical coherence tomography (OCT).

Methods: This cross-sectional analytical study included 44 eyes of 22 paediatric glaucoma suspects, who were compared with 40 eyes of 20 normal paediatric eyes. Pearson correlation coefficients were calculated to assess the relations between the peripapillary retinal nerve fiber layer (RNFL) thickness and ganglion cell complex (GCC). Receiver Operating Characteristics (ROC) curve was plotted for OCT parameters in both the groups along with area under the curve (AUC) calculation. P values < 0.05 were considered as statistically significant.

Results: We found the RNFL to be thickest in the superior, inferior, nasal and temporal quadrants in both glaucoma suspects and normal group. When compared among quadrants in RNFL, all the values in different quadrants were statistically significant from each other and in between groups with p < 0.01. The RNFL thickness was statistically different in glaucoma when compared with normal in superior, temporal, and nasal quadrants however, no statistically significant difference was found in inferior quadrant RNFL. The largest AUC for discrimination of glaucoma suspect eyes from normal in peripapillary RNFL in was nasal quadrant in right eye, followed by temporal quadrant whereas it was largest in superior followed by nasal quadrants then average in left eye. However, AUC for discrimination of glaucoma suspects from normal in GCC was poor.

Conclusions: Glaucoma suspect paediatric eyes showed significant thinning in peripapillary nerve fiber layer thickness compared to normal subjects.

Incidence of Birth Defects among Live Born Neonates at Tertiary Level Maternity Hospital in Nepal

2021-11-27T21:38:48+00:00

Introduction: Birth defects are structural and functional anomalies that present before, at birth, or later in life. This study aimed to find out total incidence, type of structural birth defects in live born babies in Nepal.

Methods: The study was conducted at a tertiary level maternity hospital in Nepal from 14 April 2018 to 13 April 2019. Data was collected on online Newborn Birth Defect data base developed by WHO South- East-Asia Regional Office. All live born babies with external and internal birth defects confirmed by radiographic, ultrasonography and echocardiography until seven days of life were included. Ethical approval was obtained from Institutional Review Committee of hospital.

Results: Total of 21,564 live babies were delivered during one-year study period. Out of these, 220 (1.02%) had one or more birth defects. Number of male babies {130 (59%)} were more than female {89 (40.9%)}. 176 (80%) babies with the malformation were born to mother within age group 20 to 35 years. Of the total 220 babies with birth defects, 197 (89.5%) had isolated malformations and remaining 23 (10.4%) had sequence malformations. The most frequent malformations involved cardiovascular system 125 (56.8%) followed by gastrointestinal system 37 (16.8%), musculoskeletal system 34 (15.4%) and central nervous system 18 (8.1%).

Conclusions: Incidence of overall birth defects in this study was found to be 1.02% in which cardiovascular system anomalies was the most common followed by gastrointestinal, musculoskeletal and central nervous system anomalies.

Incidence, Outcome and Predictors of Mortality in Respiratory distress syndrome (RDS): A Prospective Cohort Study at Tertiary Care Hospital in Nepal

2022-04-06T13:23:09+00:00

Introduction: With advances in therapies during antenatal and perinatal period, there has been apparent decrease in incidence and mortality due to respiratory distress syndrome (RDS). However, there is paucity of data on exact incidence and outcome of RDS in resource limited setting. This study was conducted with the primary aim to describe the outcome of RDS and analyze the predictors for mortality.

Methods: A prospective observational study was conducted in the Neonatal Intensive Care Unit (NICU) and Neonatal Unit of Tribhuvan University Teaching Hospital (TUTH), Kathmandu, Nepal from October 2019 to April 2021.

Results: A total of 94 preterm newborns developed RDS giving prevalence of 20.5 per 1000 live birth cohort at TUTH. Incidence of RDS among preterm babies was 14.6%. The median duration of continuous positive airway pressure (CPAP) was 48 hours (Range 8 - 192 hours). Inhospital mortality rate was 15 (15.96%). Lower gestational age and premature rupture of membrane (PROM) were significantly associated with higher mortality whereas Normal Vaginal delivery (NVD) was associated with lower mortality. Logistic regression analysis for risk of dying for the cohort predicted that lower birth weight (AOR = 0.99; 95% CI = 0.99 - 0.99; P = 0:01), sepsis (AOR = 145.14; 95% CI = 5.04 - 4175.15; P = 0:004) are independently associated with increased risk of dying whereas increase duration of NICU stay decreased the risk (AOR = 0.71; 95% CI = 0.54 - 0.91; P = 0:01).

Conclusions: The mortality rate decreases with increasing gestational age and birth weight. A number of neonatal factors, either in isolation or in combination, were significantly associated with in-hospital mortality

Is Maternal Breastfeeding Motivation and Exclusive Breastfeeding Influenced by early Marriage age?

2021-06-27T18:14:00+00:00

Introduction: Exclusive breastfeeding is beneficial for mother and child health. However, exclusive breastfeeding rate is low among young mothers. Thus, our study aimed to examine the relationship between maternal breastfeeding motivation and exclusive breastfeeding and determine whether the early marriage age influences both variables in Gunung Kidul District, Yogyakarta Special Region, Indonesia.

Methods: A cross-sectional design was conducted among young adolescent mothers. A total of 144 married women who had young children aged six to 12 months were selected using simple random sampling. Exclusive breastfeeding was the dependent variable, while maternal breastfeeding motivation was the independent variable. Descriptive statistics, chi-square test, multiple logistic regression, and mantel haenzel tests were performed to analyse the relationship between variables using STATA 14.2.

Results: Maternal age at marriage > 20 years (OR = 2.98; 95%CI: 1.15-7.74) and good maternal breastfeeding motivation (OR = 22.02; 95%CI: 7.55-64.2) were associated with exclusive breastfeeding practice. In the stratification analysis, a larger association was found between maternal breastfeeding motivation and exclusive breastfeeding among younger mothers (OR=3.96; 95%CI: 2.25-6.97) compared to older mothers (OR = 1.79; 95%CI: 1.29-2.48).

Conclusions: Maternal breastfeeding motivation positively influences exclusive breastfeeding practice. Notably, young mothers are more likely to be motivated to breastfeed their children exclusively than older mothers. The results suggest a need to improve maternal breastfeeding motivation through quality prenatal and postnatal care services that involve other family members.

Less Invasive Surfactant Administration (LISA) in Premature Neonates, using 5F feeding tube versus 2 mm Endotracheal tube – An Innovative, Pilot study

2021-12-09T06:58:05+00:00

Introduction: Administration of LISA using thin and soft catheters like 5 F orogastric tube, though less invasive, is technically challenging and needs expertise. We hypothesized, use of a 2 mm Endotracheal (ET) tube for administration of LISA could be an easy and convenient alternative.

Methods: This is a prospective, single-centric, quasi-random, pilot trial conducted in the inborn unit of a tertiary care hospital from May 2020 - December 2020. All the inborn preterm (28 - 34 weeks) neonates with respiratory distress requiring surfactant were alternately allocated to receive LISA using a 5 F infant feeding tube or an uncuffed 2.0 size ET tube. The primary outcome was successful administration of surfactant defined as a procedure without any need for positive pressure ventilation.

Results: In our study, 25 neonates were enrolled in each arm. Administration of LISA using 2 mm ET tube was associated with better success of surfactant administration with lesser incidence of PPV (20 vs 11, p < 0.05), desaturation (5 vs 12, p < 0.05), and bradycardia (3 vs 10, p < 0.05) compared to LISAOG.

Conclusions: Administration of LISA using a 2 mm ET is an easily adaptable and convenient alternative that is well tolerated by the neonates without any adverse effects.

Mean Platelet Volume as a Marker of Sepsis in Newborn

2022-04-04T08:05:56+00:00

Introduction: Neonatal sepsis is the leading cause of death in developing country like India and we need early diagnosis and treatment to prevent mortality so we require better diagnostic marker for sepsis. Mean platelet volume (MPV) is a measure of average platelet volume which represents inflammatory burden of disease. In our study MPV rises in septic neonates significantly and can be helpful to diagnose sepsis early with other blood counts.

Methods: This case-control study was done on 500 newborns, out of which 452 included in study are classified into two groups that is group A (n = 226): apparently healthy neonates, group B (n = 226): diagnosed with neonatal sepsis by septic screening positive. All patients in the study were go through adequate valuation of their history, clinical examination, complete blood count including MPV, C-reactive protein (CRP) and blood culture.

Results: Septic neonates showed statistically higher values of MPV than the control group. The diagnostic cut-off value of MPV NS was 10.2 fl.

Conclusions: MPV which is a platelet index obtained from complete blood count can be used an additional marker along with established septic screen to ensure early diagnosis in neonatal sepsis.

Nasal Anthropometry among Term and Preterm Indian Neonates- Does Size Matter?

2022-04-05T07:29:29+00:00

Introduction: The binasal prongs are used in neonatal intensive care unit (NICU) to provide nasal Continuous Positive Airway Pressure (n-CPAP) in preterm neonates. A variable degree of nasal trauma is the most common complication of n-CPAP therapy. This can be reduced by use of appropriately sized binasal prongs that are customized to the anatomical measurements of noses. The aim was to estimate the nasal two-dimensional anthropometrical parameters among Indian neonates across different gestations; to compare between both sexes and between neonates with different intra uterine growth status and gestational ages.

Methods: Hundred and one neonates across different gestational ages (24 – 42 weeks) and intrauterine growth status who were admitted to the NICU of a tertiary teaching hospital were enrolled and grouped into five categories based on their gestational ages viz. 37 – 42 weeks, 34 – 36 weeks, 31 – 33 weeks, 28 – 30 weeks, and 24 – 27 weeks. Seven nasal and para-nasal measurements were taken (nostril width, nostril length, columella width, columella length, nose width, nose length and philtrum length) for each neonate using a vernier caliper.

Results: All anthropometrical measurements differed significantly across gestations especially between 37 - 42 and 24 - 27 wks (p = 0.00). Males differed from females only with respect to nostril width (p = 0.032). The measurements varied significantly when compared among small for gestational age, appropriate for gestational age and large for gestational age neonates.

Conclusions: The nasal parameters differed significantly among various GA and intra-uterine growth statuses, which should help design appropriate sizes of bi-nasal prongs.

Pediatric Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2): Clinical Characteristics and Cycle Threshold Value (CT value) of Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) of Nasopharyngeal Samples

2022-05-11T15:45:45+00:00

Introduction: We aimed to characterize epidemiological and clinical characteristics of children and adolescents with Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection, and to evaluate relationship of cycle threshold value (CT value) of Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) test (As surrogate marker of viral load) with patient age and severity of infection.

Methods: We retrospectively collected data of children and adolescents admitted in our center from April 2020 to July 2020 with positive RT-PCR test for SARS-CoV-2.

Results: Total 62 children, with median (IQR) of age 96 (54 - 122) months and 39 adolescents with median (IQR) of age 19.5 (18.2 - 20) years were included. 56 (90%) children and 34 (87%) adolescents had history of SARSCoV-2 positive cases in their family. Only nine (14%) children had associated risk factor for severe SARS-CoV-2 infection. Fever was the commonest symptom which was present in 24 (39%) children and 16 (41%) adolescents. Cough was present in 17 (27%) children and 10 (26%) adolescents. Diarrhea was found in 14 (23%) children and three (8%) adolescents. CT values of RT-PCR test were similar in children and adolescence (p = 0.48). However, asymptomatic children had higher CT values than symptomatic children (p = 0.01).

Conclusions: Majority of children have asymptomatic or mild SARS-CoV-2 infection with similar CT values in children and adolescents.

Role of Neutrophil CD64 in the Diagnosis of Neonatal Sepsis

2021-09-29T05:11:45+00:00

Introduction: Neutrophil surface CD64 (Cluster of differentiation 64), the highaffinity Fc receptor, is quantitatively up-regulated during infection and sepsis. The diagnostic utility of NCD64 as a reliable marker of neonatal sepsis has not been explored so far. Hence this study has been conducted to compare NCD64 with other currently used infection markers including total leucocyte count, platelet count, absolute neutrophil count (ANC), band:neutrophil ratio and highly sensitive C reactive protein (hs-CRP).

Methods: Consecutively born neonates between March 2014 to November 2014 were enrolled with documented sepsis (n = 81), clinical sepsis (n = 35), and no sepsis (n = 87). NCD64 was analyzed by flow cytometry.

Results: Sepsis episodes had a higher median CD64 index of 10.35 (Range: 15.88, 6.87) as against 2.97 (Range: 5.53, 1.64) in the control group (p < 0.001). The percentage of NCD64 positive cells was also significantly higher in the sepsis group compared to the control group (63.90 ± 2.67 vs 15.07 ± 1.95; p = 0.001). In the ROC curve analysis NCD64, percentage of NCD64 positive cells had the highest AUC (AUC-0.914) using a cutoff of 28.01%, followed by CD64 mean fluorescence intensity (MFI) with an AUC of 0.850 using a cutoff of 5.54. NCD64 was significantly elevated in the groups with documented and clinical sepsis (p < 0.001).

Conclusions: NCD64 is a highly sensitive marker for neonatal sepsis. Prospective studies incorporating NCD64 into a sepsis scoring system are warranted.

Prevalence of Cleft Lip and Palate in the Developing Countries of Asia and Africa: A Review

2022-11-03T08:34:06+00:00

Introduction: The objective of this paper is to review the literature on the incidence of cleft lip and palate (CLP) in the developing countries of Asia and Africa. The existing literature tends to focus on developed countries and there is lack of research in developing countries.

Methods: The studies that met the inclusion criteria were reviewed and data extracted. There were 20 studies done in Asian and African countries which were included.

Results: The incidence of CLP in Asian countries is markedly greater than in African countries. Most studies report a male predominance in CLPs and a female predominance in cleft palates. The male dominance is seen more than other developing countries which is consistent with other Asian countries and the same has been found in African countries. In the Nepalese study, females were slightly more affected than males among all clefts. The incidence or prevalence in the frequency and types of malformations of CLP in developing countries has been provided.

Conclusions: The review underlines the need for an aggressive approach to prevent and control CLP in patients in developing countries.

Acute Kidney Injury Secondary to Abdominal Tuberculosis: A Diagnostic Dilemma - A Case Report

2022-01-30T06:05:03+00:00

Tuberculosis is a serious public health issue in developing countries. Hypercalcemia, though reported in granulomatous disease, is mild and asymptomatic in tuberculosis. A 16 year old girl female presented with significant weight loss, loss of appetite and on examination hepatosplenomegaly. Ultrasound abdomen (USG) showed mesenteric and retroperitoneal lymphadenopathy with hepatosplenomegaly with mild ascites. We report an unusual case of hypercalcemia with renal injury due to abdominal tuberculosis in an immunocompetent female.

Rare Clinico-radiological Syndrome Mimicking Transient Ischemic Attack - A Case Report

2022-02-15T08:28:11+00:00

Mild encephalitis / encephalopathy with reversible splenial syndrome (MERS) is a rare clinico-radiological entity characterized by mild to moderate neurological symptoms following a prodrome. Numerous infectious causes have been documented, most common being viruses and few bacteria (E. coli, Salmonella, Streptococcus & Legionella). MRI typically shows an isolated lesion in the splenium of corpus callosum, rarely in other white matter regions. Here, we discuss a 13 years old boy presenting to us like transient ischemic attack but turning out to be MERS on neuroimaging. The boy improved symptomatically in 72 hrs with spontaneous resolution within four weeks

Congenital Chylothorax as a Cause of Non Immune Hydrops: A Case Report

2021-08-26T09:00:54+00:00

Chylothorax is a rare cause of non immune hydrops fetalis & presents with respiratory distress at birth. We present a late preterm diagnosed antenatally as hydrops with chylothorax with bilateral pleural effusion and respiratory distress at birth requiring mechanical ventilation. Baby was managed successfully with intercostal drainage, octreotide infusion & MCT milk formula.

Post Traumatic Cerebellar Ataxia – A Least Pondered Diagnosis: A Case Report

2022-08-21T06:10:49+00:00

Ataxia means impaired co-ordination of voluntary muscle movement. It is a physical finding, not a disease and the underlying etiology needs to be investigated. It can be the patient’s presenting complaint or a component among other presenting symptoms. Cerebellar dysfunction or impaired vestibular or proprioceptive input to cerebellum can cause ataxia. Though there are several etiologies post infectious ataxia is the most common one in children. But other rare etiologies of ataxia should also be considered based on the clinical presentation. We try to emphasise on this point by presenting a case of post traumatic cerebellar ataxia – a rare entity in children.

Was It Pneumothorax? A Case Report of a Neonate with Congenital Pulmonary Airway Malformation from Rural Nepal

2021-08-27T06:09:30+00:00

Formerly called congenital cystic adenomatoid malformation (CCAM), congenital pulmonary airway malformation (CPAM) is a rare but most common congenital lung malformation that may manifest as an asymptomatic lesion at birth or in later life. The diagnosis may be difficult and is easily confused for pneumothorax often resulting incorrect ICD insertion on an emergency basis, which causes complications and delays accurate diagnosis. We report a case of a neonate, who presented with increasing respiratory distress at birth and hyperlucency in a chest radiograph initially misdiagnosed as pneumothorax and ICD inserted, later correctly diagnosed as CPAM type I with help of a CT chest. This case report is presented to highlight that CPAM is a rare cause of respiratory distress in newborns at birth.

Effectiveness of Pyridostigmine and Pyridoxine in Vinca AlkaloidInduced Cranial Neuropathy – A Case Series

2022-02-04T15:35:37+00:00

The neurotoxicity of the vinca alkaloids in the form of peripheral neuropathy is well known, however, cranial neuropathy is not widely recognized especially in children. We describe here in three children with malignancies who developed vinca alkaloid induced cranial nerve palsies during treatment which resolved on institution of pyridoxine and pyridostigmine. Vinca-alkaloid-induced cranial nerve palsies represent a potentially dangerous but reversible condition.

Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA

2022-01-02T08:15:52+00:00

Mucopolysaccharidosis type IVA is a rare autosomal recessive lysosomal storage disorder occurring worldwide in all ethnic groups. It is caused by biallelic variants in the GALNS gene (OMIM 612222). We report five cases of mucopolysaccharidosis type IVA with short stature and severe skeletal dysplasia. An optimized diagnostic strategy that combined enzymatic testing and genetic screening was applied. All the tested urine samples showed increased urinary glycosaminoglycan / creatinine ratios. In all five cases, the enzyme activity of galactosamine-6-sulfate sulfatase was pathologically decreased. Gene-targeted sequencing revealed a previously unreported homozygous c.139-12T>C variant of the GALNS gene in one patient and three previously reported missense variants in four patients; c.253T>C (p.Cys85Arg), c.626C>T (p.Ala209Val) and c.878C>T (p.Ser293Leu). Genetic studies not only confirm the diagnosis of mucopolysaccharidosis IVA, but also enable predicting the prognosis and facilitate genetic counseling. Enzyme replacement therapy is not available in Sri Lanka to date. However, the quality of life in these patients can be improved by a multidisciplinary approach.