Open Access Case Report

Lobster Claw Hand Deformity - Cornelia de Lange Syndrome

Sahana Devadas, Meghana Jagadish, Pavan Kumar Karigoudar, H. Anil Kumar, Varun Govindarajan, Mallesh Kariyappa

Asian Journal of Pediatric Research, Page 24-29
DOI: 10.9734/ajpr/2022/v9i130257

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.

Open Access Original Research Article

Atlantoaxial Instability in Children, 26 Years of Experience

J. Fondop, A. F. Atemkeng, M. C. Athyam, D. J. A. M. Chefor Alain, V. P. Djientcheu, . Scavarda, Pech Guh, J. Jouve, G. Lena, G. Bolini

Asian Journal of Pediatric Research, Page 1-11
DOI: 10.9734/ajpr/2022/v9i130255

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.

Open Access Original Research Article

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

Varsha Verma, Bipin Karki, Shyam Kumar Gupta, Ismat Jahan, Mohammad Kamrul Hassan Shabuj, Sadeka Choudhury Moni, Sanjoy Kumer Dey, Mohammod Shahidullah, M. A. Mannan

Asian Journal of Pediatric Research, Page 12-23
DOI: 10.9734/ajpr/2022/v9i130256

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.

Open Access Original Research Article

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

Prashanth S. Veeraiah, Vikram S. Kumar, S. R. Dhananjaya, Anil Kallesh, M. K. Sajna, Patil Vinay Kumar, Shivaraj Gowda

Asian Journal of Pediatric Research, Page 30-35
DOI: 10.9734/ajpr/2022/v9i130258

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 5th day of life, while 14 out of 16 unstable babies were on full feeds by 8th day of life. For the remaining 2 babies, we could achieve full feeds by 11th 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.

Open Access Original Research Article

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

Andreza Moita Morais, Francisco Plácido Nogueira Arcanjo, Patrick Gonçalves de Oliveira, Caio Plácido Costa Arcanjo, Franco Bieh Dantas de Sousa, Kelle Maria Tomais Parente, Keylla Conceição de Albuquerque Carneiro

Asian Journal of Pediatric Research, Page 36-44
DOI: 10.9734/ajpr/2022/v9i130259

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.