Day 1 :
- Neonatology | Pediatrics | Neonatal Intensive Care Unit | Neonatal Research | Fetal Nutrition
Session Introduction
Silvina Dignani
Hospital San Felipe, Argentina
Title: Congenital syphilis and neonatal cholestasis: A case report
Biography:
Abstract:
Congenital syphilis remains a disease that leads to a significant number of mortality and morbidity in neonates and new-born’s, despite the widespread availability of affordable diagnosis and treatment options for the entire population.
Clinical case: A new-born, born at full term after 41 weeks of gestation, with a low weight of 2850 kg and an Apgar score of 9/10, was admitted exhibiting refusal to feed, jaundice, and skin desquamation. The mother of the new-born, aged 20 and having had three pregnancies (G3P2), had recently tested negative for syphilis during the third trimester, including a nonreactive VDRL test. Once admitted to the neonatology unit, the new-born underwent a VDRL test, which revealed values of 256 dilutions, along with thrombocytopenia, elevated liver enzymes and hyperbilirubinemia with a predominance of direct bilirubin. A lumbar puncture was performed, and the cerebrospinal fluid (CSF) analysis showed a VDRL value of 2 dilutions, confirming the diagnosis of neurosyphilis. Treatment with penicillin was administered for duration of 10 days. The subsequent course of the disease was complicated by chronic cholestasis during follow-up.
Conclusion: It is crucial to maintain a high level of suspicion for congenital syphilis as a diagnostic approach, even when the mother presents negative test results. This is due to the fact that congenital syphilis remains one of the most prevalent infectious diseases during pregnancy in our environment.
Silvie Hitmarova
Liverpool Women’s NHS Foundation Trust, UK
Title: Renal vein thrombosis in neonates with acute kidney injury; optimizing doppler ultrasound to facilitate early detection
Biography:
My name is Dr Silvie Hitmarova MRCPCH and I am a paediatric trainee doctor in the North West deanery in the UK. I currently work in a tertiary neonatal unit in the Liverpool Women’s Hospital. I worked on this case series review under a supervision of Dr Hannah Brophy who is a consultant neonatologist in the Liverpool Women’s Hospital. As a part of my training I undertake regular audits on variety of interesting topics, I am passionate about neonatology and currently working on an audit on family integrated care in the Liverpool Women’s Hospital. I also participate in local departmental teaching sessions, as well as organisation of regional revision course for MRCPCH clinical exam in the North West Deanery, UK.
Abstract:
Biography:
Aisha Khameis Ahmed is a third-year pediatric resident in the department of pediatrics at Fujairah Hospital, UAE. She completed MBBS from the UAE University. Before joining the pediatric residency program, she worked as a General practitioner for over seven years in pediatrics
Abstract:
Introduction: Galloway- Mowat syndrome is a rare hereditary renal, neurological disease characterized by microcephaly, intellectual disability, hiatus hernia, skeletal anomalies, and nephrotic syndrome. It appears to be transmitted as an autosomal recessive trait. Recently, novel causative mutations for this disease have been identified in the gene-encoding subunit OSGEP. The gene variant has not been reported before in the international database.
Case Presentation: A twenty months old Egyptian with working diagnosis of Galloway- Mowat syndrome caused by OSGEP gene (c.25 G>A p.GlySer). She was born at term by caesarean section due to twin delivery. Birth weight was 2700g. She was born with normal head circumference and weight. At the age of 3 months, mother noticed that her head circumference is not increasing compared to her twin, her current HC <3rd centile. This girl displayed various features of facial dysmorphism (microcephaly, deeply sited eyes, and high arched palate). In addition, she has spasticity, hyperreflexia, truncal hypotonia, Global developmental delay, failure to thrive and epileptic disorders. Renal ultrasound revealed bilateral early to grade 1 renal parenchymatous pathological changes. Her serum creatinine levels were 17 umol/L (low). The segregation analysis showed that both parents and her twin are carriers which supports that the variant of OSGEP is likely to be pathogenic.
Methods: This study was designed as a case report using patient clinical manifestation with a literature review, together with family study through segregation analysis that can yield robust data to re-classify a variant of unknown clinical significance.
Results: The OSGEP gene (c.25 G>A p.GlySer) is most likely pathogenic from the patient phenotype and family segregation data. However, gene functioning is the gold standard method to classify this variant which is still under process.
Conclusions: We report a familial Galloway-Mowat syndrome caused by the OSGEP gene (c.25 G>A p.GlySer) with both parents and her twin carrying a novel heterozygous. She displayed various features; microcephaly, deeply sited eyes, high arched palate, spasticity, hyperreflexia, truncal hypotonia, Global developmental delay, failure to thrive and epileptic disorders.
Biography:
Marian Kamal Mankaryous Hendy is a Specialist in the Department of Paediatrics in Medcare Medical Centres. She obtained her MBBS and Master's Degree in Paediatrics and Neonatology from Assiut University in Egypt. She completed both her internship and residency at Assiut University Hospital. She started practicing as a Paediatrician at Assiut University Hospital and the Ministry of Health in Egypt. She then joined the Sohar Hospital in Oman where she worked as a Paediatric Specialist. Subsequently, she also worked as a Paediatric Specialist at Zulekha Hospital in Dubai for 5 years before joining Medcare.
Abstract:
Pneumonia is a lung infection, so it has more respiratory symptoms while influenza is accompanied more by muscular aches and fatigue. Usually pneumonia takes longer to develop and can be a complication of influenza. The flu is caused by a viral infection, while pneumonia can be caused by either a bacterial, viral or fungal infection. Bacterial pneumonia can be an influenza complication. Immunosuppression is a risk factor for the secondary bacterial infection in influenza.
In flu season, every one of all ages is at risk of influenza, but the children are more vulnerable. Every region across the world is susceptible to the contagious respiratory illness, it can range from mild to severe in illness, so many patients with the flu recover within a few days, but some people can develop complications. One of the most significant complications is Pneumonia. One-third of pneumonia cases develop from a respiratory virus, with the flu the most common.
Viral pneumonia in healthy people goes away in 1 to 2 weeks, but cough and fatigue may last for many weeks. Viral pneumonia can be serious and life-threatening in people with other medical illnesses. The best thing for a quick recovery from the influenza is rest and hydration, sometimes antiviral medication as oseltamivir can help to avoid complications as Pneumonia, especially in the immunocompromised patients, it can reduce the severity and duration of the symptoms as well.
Simple sanitization by wiping the surfaces with simple detergents, diluted bleach, or hydrogen peroxide, can help stop the spread of the influenza virus and control its seasonal breakdowns. Fortunately, there is a vaccine for both diseases, you can administer a pneumococcal vaccine (PCV15, PCV20 or PPSV23) and also influenza vaccination, this helps a lot to reduce the prevelance of both influenza and pneumonia in the pediatric population.