Asian Journal of Pediatric Research

Lobster Claw Hand Deformity - Cornelia de Lange Syndrome

Sahana Devadas — 2022-06-07

Background: Cornelia de Lange syndrome is a genetic syndrome characterized by intellectual disability, facial features with synorphrys or fused eyebrows, upper limb anomalies and atypical growth. It is caused by spontaneous mutations in genes responsible for structural or regulatory function of cohesin complex.

Report: We present two newborns cases admitted to our NICU with characteristic dysmorphic features of microcephaly, ectrodactyly and thick eyebrows. One baby also had associated congenital heart defect and sensorineural hearing loss. Both babies are under followup with developmental early intervention programs. Parents were offered genetic counselling for future pregnancies.

Conclusion: Cornelia de Lange is predominantly a clinical diagnosis by identifying typical dysmorphic features. Labelling a syndromic diagnosis helps to provide genetic counselling to the parents, identify associated co-morbidities at earlier stages and improve the quality of living of such children.

Atlantoaxial Instability in Children, 26 Years of Experience

J. Fondop — 2022-06-06

Study Design: Retrospective case study.

Objective: To determine the history, clinical and imaging signs, diagnosis, treatment and clinical follow-up.

Summary of Background Data: The cranio vertebral junction (CVJ) is a complex transitional area between the skull, the upper cervical spine, the brain and the upper cervical cord. It concerns all ages. Instability can be the result of congenital malformations or traumatic injury.

Methods: It is a retrospective study of patients files in department of paediatricneurosurgery and the department of pediatric orthopedic of Marseille, during 26 years , Between 16th October 1981 and 16th June 2007 In each medical record, we determined identity, circumstances of instability discovery, clinical and paraclinical signs, diagnosis, therapeutic protocol and patient's outcome after treatment.

The inclusion criteria were the medical records with complete information regarding the patients, who were treated for atlantoaxial instability (AAI). Patients presenting clinical instability with incomplete files, have been excluded.

Results: In our retrospective study, 22 children have been treated for AAI, with 10 boys (45%) and 12 girls (55%), aged 5 to 17 years old, mean age was 10.

the main circumstance of lesion was accident 45,5%, sport accident 27,3%, road accident 18,2%), the others circumstances are 55,5%.

The past history included : congenital malformation in 18,2% (Down’s syndrome, Klippel- Fiel’s syndrome, cardiac malformation), sport accident(9,0%), neurological deficit (13,7%), cervical trauma already treated(4,5%), learning deficit (4,5%), and plagiocephaly (4,5%); for 45,6%, there was no evidence etiology.

The clinical signs were quadriparesis (31,9%), quadriplegia (13,6%), torticoli (9,1%), quadriplegia and priapism (4,5%), headache and dizziness (4,5%), abnormal head position attitude (4,5%). Clinical exam was normal for 31,9%.

Standard X-ray was performed for 50,0%, CT scan for 50,0% and MRI for 40,8%.

These paraclinical examination showed that AAI were traumatic in 59,1% (luxation 36,4%, odontoïdum fracture 13,7%, C1C2 dislocation 4,5 %, C2 arch, articular fracture and pseudoarthrosis 4,5%), congenital malformation in 40,9%.

The orthopedic treatment was used for 13,5% of the patients and surgical treatment was used for 86,5% of the patients (posterior approach72,8 %, anterior approach 9,2%, anterior and posterior approach 4,5%).

Complications were observed in 33% of the patients (consisted of infections 14%, Medulla oblongata compression 5%, basilar impression)

72% of the patients recovered without sequela after 15years of follow up, 28% had a neurological deficit during the same time .13% conserved their deficit 5 years after treatment.

Conclusion: In many cases, AAI is an insidious affliction in many cases. A neurological deficit is a sinister presentation often leading to significant sequela even after treatment.

Serum Lipid Profile in Newborns with Intrauterine Growth Retardation and Its Comparison with Appropriate for Gestation Age Newborns

Varsha Verma — 2022-06-06

Background: Newborns with intrauterine growth retardation (IUGR) are known to permanently change their physiology and metabolism to adapt to limited supply of nutrients in utero. These programmed changes can later be the cause for the origin of diseases like coronary artery disease, diabetes mellitus and hypertension. If the premature development of cardiovascular risk factors can be anticipated during childhood, future events can be prevented effectively by taking appropriate measures.

Objective of the Study: To study serum lipid profile of newborns with IUGR and Appropriate for Gestation Age(AGA) newborns and compare them.

Methodology: This cross sectional study was conducted from February 2018 to September 2018 in the department of Neonatology, BSMMU, Dhaka, Bangladesh. Newborn who met the inclusion criteria, information regarding antenatal, natal and postnatal history were recorded in a data collection form after taking consent from the parents/guardians. Weight, length, OFC were taken along with other clinical examination. Serum samples of infant with intrauterine growth retardation and matched group of Appropriate for Gestation Age newborns were collected within 24 hours of postnatal age before starting feed and sent to Biochemistry laboratory of BSMMU and analyzed for lipid profile which included serum cholesterol, Triglyceride, Low Density Lipoprotein(LDL) and High Density Lipoprotein (HDL).All data were recorded in a preformed questionnaire and data was analyzed by statistical package for social sciences (SPSS) version 20. Quantitative data were expressed as mean\(\pm\) SD and categorical data were presented as proportion. All quantitative variables were compared by unpairedt-test; categorical variables were compared by Chi-square test or Fisher’s exact test. P < 0.05 was considered as significant. Pearson correlation was done to see the correlation between gestation age and lipid profile in both IUGR and AGA newborns.

Results: Total population included 43 IUGR newborns and 43 AGA newborns who were matched by gestational age and sex. No significant difference was seen among both the groups based on demography except for birth weight which was lower in IUGR newborns than AGA newborns (1398.02\(\pm\) 307.14 vs 1777.91\(\pm\) 551.2 , p=<0.001). It was observed that serum triglyceride level in IUGR group was significantly higher than those in AGA group (90.23 \(\pm\) 48.16 vs. 70.13 \(\pm\) 27.76, p=0.020). Serum HDL-c level was found to be significantly lower in IUGR group as compared to AGA group (20.62\(\pm\) 8.88 vs. 26.95 \(\pm\) 7.91, p=0.001). There was a significant negative correlation between gestation age and serum LDL-c level in IUGR infants(r = -0.334).

Conclusion: As compared to AGA newborns, IUGR infants had significantly higher levels of triglyceride and lower levels of HDL-c. Significant negative correlation was observed between gestation age LDL-c in IUGR newborns.

Can Full Enteral Feeds during Therapeutic Hypothermia be Achieved without Adverse Effects? An Observational Study

Prashanth S. Veeraiah — 2022-06-15

Objectives: The aim of our study is to evaluate the effects of perinatal asphyxia and subsequent treatment with therapeutic hypothermia (TH) especially on gastrointestinal system in newborns diagnosed with moderate-to-severe Hypoxic-Ischemic Encephalopathy (HIE). The primary objective was to determine the time for initiation of enteral feeds, enhancing the feeds and achieving full feeds in a group of newborns with HIE undergoing TH with secondary objectives to determine the risk of necrotising enterocolitis (NEC), late onset sepsis and duration of hospital stay.

Methods: This is a retrospective study done at Neonatal Intensive Care Unit (NICU), Sarji hospital, a tertiary care centre in Shivamogga, India. A review of the medical records for feeding charts of the babies who underwent TH between December 2018 and October 2021 was carried out. A total of 50 newborns either in-born (n = 3) or out-born and referred (n = 47) to our NICU were included.

Results: Among the 50 babies (both hemodynamically stable and unstable) undergoing TH, feeds were initiated at Day 2 of life. All hemodynamically stable babies were on full feeds by 5^th day of life, while 14 out of 16 unstable babies were on full feeds by 8^th day of life. For the remaining 2 babies, we could achieve full feeds by 11^th day of life.

Conclusion: This study not only supports the recent studies, but also highlights the safety of achieving complete enteral nutrition in neonates (both hemodynamically stable and unstable) undergoing TH without the risk of late-onset sepsis or NEC.

Weekly Iron Supplementation in 2-Year-Olds is Effective in Combating Anaemia

Andreza Moita Morais — 2022-06-25

Introduction: Iron deficiency anaemia is a serious public health problem in developing countries, especially among children, as it is associated with serious developmental problems.

Objective: To assess the effects of weekly ferrous sulphate supplementation on haemoglobin (Hb) levels and the prevalence of anaemia in children aged 2 to 3 years.

Methods: A cluster-randomized clinical trial was conducted; two schools were randomly chosen. In the first school, the children received 6mg/kg of elemental iron in the form of iron sulphate once a week (intervention). In the other school, the children received a placebo (control). The intervention group had 44 participants at the end of the study, and the control group had 48 children. Blood samples were taken at baseline and at the end of the study to assess serum Hb levels and anaemia prevalence. The intervention lasted 14 weeks.

Results: There was a mean increase in Hb of 0.85g/dL (p=0.0003) in the intervention group and a decrease of 0.74g/dL (p=0.0001) in the control group. The prevalence of anaemia significantly decreased in the weekly supplementation group with p=0.0002.

Conclusion: Weekly iron supplementation in preschool-age children promoted a significant increase in Hb levels and a decrease in the prevalence of anaemia.