Asian Journal of Pediatric Research

Transaldolase TALDO deficiency is a rare autosomal recessive disorder of the pentose phosphate pathway. It has variable presentations with poor outcome when present early in life. We present a young Saudi infant with a fatal early presentation of TALDO deficiency.

Waardenburg syndrome is an uncommon autosomal dominant or recessive disorder, distinguished by hypopigmentation of either skin or hairs or both, segmental, partial or complete heterochromia iridis or isohypochromia, hypertrichosis of eyebrow, synophrys, dystopia canthorum, broad and high nasal root and congenital deafness. The diagnostic criteria consist of major and minor criteria; major includes congenital sensorineural hearing loss, pigmentary abnormality in iris, segmental, partial or complete heterochromia iridis, isohypochromia, fore hair’s achromia, dystopia canthorum and affected first degree relative while minor criteria include congenital leukoderma, synophrys, broad and high nasal root, hypoplasia of nasal alae and premature graying of hair.

Herein we report a case of two days old baby boy having uncommon pigmentation of hair and iris beside dystopia canthorum. He was diagnosed as a case of Waardenburg Syndrome type1 (WS1).

Connate myxedema is also known as congenital hypothyroidism is an inborn endocrine disorder, affects 1 in every 3000 to 4000 infants. Numerous genetic defects are related with perpetual congenital hypothyroidism (CH). Ambient atmosphere, iatrogenic and immunologic factors are known to cause transient congenital hypothyroidism, which resolves within first few months of life. Molecular defects of thyroid oxidase system which is composed of at least two proteins may be involved in pathogenesis of lasting transient congenital hypothyroidism in infants with faults in iodide organification, for which the oxidase system is needed. Congenital hypothyroidism is predominantly sporadic but up to 2% of thyroid dysgenesis is inherited and congenital hypothyroidism due to organification faults is often recessively inherited. Levothyroxine is the drug of choice. An infant of 10 months old was presented with hoarseness while crying and noisy breathing. I had reported a case in which patient was diagnosed with congenital hypothyroidism and is being treated with levothyroxine.

Background: Reflexology means the application of the manual the pressure to specific points of the feet called "reflex points" that are believed to correspond to other parts of the body. The study aimed to assess the effect of reflexology strategy on the mother’s breast milk volume and their premature weight gain.

Design: An experimental design was used to conduct the study. A convenience sample of 120 Primiparous mothers and their preterm infants was chosen based on systematic simple random.

Methods: Three tools were designed by the researchers to collect the necessary data to implement the reflexology strategy framework. 1.Structured interview questionnaire sheet, 2. Assessment observational checklist sheet for Premature using 2 scales: A. Transitioning from tube feeds to oral feeds, B. The Preterm Infant Breastfeeding Behavior Scale, three Evaluation Phase observational checklist based on Mother-Infant- Breastfeeding Progress Tool (MIBPT):

Statistical Analysis: The collected data were coded, analyzed, figured and tabulated using frequencies and percentage, mean, standard deviation & chi-square tests.

Results:  There were a statistically significant difference and marked improvement in reflexology group total scores of feeding performance (P < 0.001) after intervention for 6 weeks approved of reflexology strategy. Reflexology group majority (88.3%) demonstrated good breastfeeding as compared to (55.2%) in the study group.   

Conclusion: The present study highlights the effect of reflexology strategy on the mother’s satisfaction, breast milk volume, and their premature weight gain. On the other hand, intervention accelerates the early transition of premature from the tube feeding to breastfeeding and discharge from the hospital.

Recommendation: In-service education program could be designed and implemented in the pediatric field to enable the nurses to apply reflexology strategy to improve empower early transitioning of the preterm from tube feeds to breastfeeding and early discharge. Reflexology strategy is non-pharmacological, simple, noninvasive and cheap technique would be welcomed by the nurses, physicians and mothers.      

Background: Viral gastroenteritis is still a major public health challenge in the Sub-Sahara Africa, with Rotavirus and Adenovirus as the leading causes of acute gastroenteritis among children.

Aim: The aim of this study was to investigate the prevalence of Rotavirus and Adenovirus co-infection and associated risk factors among apparently healthy school aged children with history of diarrhea in Ilishan-Remo community of Ogun State, Nigeria.                                               

Study Design:  This is a descriptive-epidemiological survey.

Place and Duration of Study: Department of Medical Laboratory Science, Babcock University, Ilishan-Remo, Ogun State, Nigeria, between March and May, 2019.

Methodology: A total of 60 children (24 males and 36 females) were recruited and their stool samples were examined using the SD Bioline Rota/Adeno virus antigen rapid test kits (Standard Diagnostics, INC., South-Korea) according to the manufacturer’s instruction. The demographic and clinical information of the participants were collected using structured questionnaires.

Results: Three, 3 (5.0%) out of the 60 participants screened, were mono-infected with Rotavirus, 2 (3.3%) were mono-infected with Adenovirus, while only 1 (1.7%) of them was co-infected with both Rotavirus and Adenovirus. There were no significant differences (P>0.05) in the prevalence of mono/co-infection with Rotavirus and Adenovirus among the study participants on the basis of age and gender. Lack of knowledge of Rotavirus and Adenovirus, history of diarrhea, eating of raw unwashed fruits and vegetables, poor hand hygiene after playing with toys and peers, and lack of regular medical check-up are some of the risk factors identified in this study.

Conclusion: The outcome of this study shows that mono/co-infection with Rotavirus and Adenovirus exist among apparently healthy school aged children with history of diarrhea in Ilishan-Remo community of Ogun State, Nigeria with a prevalence rate of 5.0%, 3.3% and 1.7%, respectively. Appropriate public health measures must therefore be taken to halt the cycle of infection in the community to forestall possible outbreak in the future.

Background: A congenital anomaly may be defined in terms of physical structure as a malformation, an abnormality of physical structure or form usually found at birth or during the first few weeks of life. Congenital anomalies affect approximately 1 in 33 infants and result in approximately 3.2 million birth defect-related disabilities every year. Congenital anomalies or birth defects are relatively common, affecting 3% to 5% of live births in the United States (US) and 2.1% in Europe. Congenital anomalies account for 8% to 15% of perinatal deaths and 13% to 16% of neonatal deaths in India.

Objectives: To provide an insight on the burden and types of surgical problems encountered in our NICU of Bapuji Child Health Institute & Research Center, JJM Medical College, Davangere, Karnataka, India and to study the incidence, clinical profile and outcome of surgical condition. Methodology: A total of 3820 babies were examined over a period of 2 years. The relevant information was documented on a semi-structured proforma and analysed.

Results: Overall incidence of congenital malformations at birth was 24.8 per 1000 births. The GIT system (51.58%) was most commonly involved followed by respiratory system (26.32%). The incidence of congenital malformation was more in male babies than female babies. Increased frequency was seen in babies born to mothers between 26–30 years & primigravida. The factors which significantly increased the rate of congenital malformations were consanguinity in parents & bad obstetric history. Out of 95 cases, 72% got discharged normally, 18% died in NICU and 10% got discharged against medical advise.

Conclusion: With emphasis on “small family” norms and population control it is necessary to identify malformations so that interventional programmes can be planned. Systematic clinical examination of newborns for early detection of anomalies that may warrant medical or surgical intervention. Accurate antenatal anomaly scan need to be done to identify major malformations and terminate the pregnancy.