Neonatology and Perinatology

M Ranjan has completed MBBS and Postgraduate Master’s degree in Sri Lanka and Membership of the Royal College of Pediatrics and Child Health in UK. She is currently working as Specialty Trainee Doctor at ST7 level in Yorkshire and Humber deanery rotation in United Kingdom.

Introduction: Metabolic alkalosis in neonates is very rare and attributed to gastric fluid losses, diuretics and congenital chloride diarrhea (CCH). There were four cases reported: due to maternal bulimia, Bartter’s, vomiting and CCH. None of them had seizures. Case report: A new-born was born in good condition by emergency lower segment caesarean section (LSCS) for intra-uterine fetal growth restriction (IUGR), preeclampsia and suboptimal cardiotocogram (CTG). She developed desaturation of 80% at 30 minutes followed by apnoea and seizures. Antenatally, mother had persistent vomiting for last one month and she also had cocaine and amphetamine abuse and active hepatitis C infection. The examination revealed irritability and hypertonia. Rest of the history and examination weren’t significant. Mother and the baby showed hypochloremic metabolic alkalosis with deranged renal function and electrolytes except potassium of 3.5 and 2.4 in baby and mother respectively; urine was positive for opiates and cocaine. Cerebral function analyzing monitor showed seizure activities; EEG and MRI head were unremarkable. Infections and metabolic screening remained negative. She was ventilated and treated with designer electrolytes solution, antibiotics and anticonvulsants. Due to renal impairment acyclovir was not given both made uneventful recovery. Because of maternal substance abuse baby was discharged to grandparents with supervised access to parents. Discussion: Maternal hypochloremic metabolic alkalosis was likely secondary to prolonged vomiting. The placental simple diffusion and hemodialysis effects explain the similar levels of electrolytes and renal function in mother and new-born except potassium. Initial normal (3.5 mmol/l) and later low (2.4 mmol/l) potassium levels are explainable by unidirectional placental potassium fluxes and intracellular shifting in alkalosis respectively. Desaturation and apnoea were due to shift of oxygen dissociation curve to left and hypoventilation by alkalosis. Early onset seizures were likely secondary to neuromuscular effect of alkalosis. This case illustrates the importance of close follow up of new-borns with maternal deranged electrolytes and renal impairment.

Zsuzsanna Varga is completing her PhD at the Budapest University of Technology and Economics at the Doctoral School of Psychology (Cognitive Science). She is working as a Research Psychologist at the Neonatal Intensive Care Unit of the Semmelweis University 1st Department of Pediatrics and also as guest Young Researcher at the Research Group of the Neurocognitive Development of the Natural Sciences of the Hungarian Academy of Sciences.

There is growing evidence that prosody is a powerful cue infants make use for segmenting spoken utterances into wordlike units. The language specific segmentation, as well as the syntactic elements are bootstrapped via perceptual patterns available at both lexical and phrase levels. Supposedly, the attunement to the native language prosodic properties starts prenatally, emphasizing the prominent role of the intrauterine period in language acquisition. A total of 82 term and preterm infants were studied on one occasion at corrected 6 months of age (n=40) or at 10 months of age (n=42) respectively. Preterm infants (n=34) were divided regarding gestational age into 30-32 weeks (n=17) and 33–36 weeks (n=17) groups and compared. Mismatch negativity event related brain potential (ERP) component (mismatch response, e.g. MMR in more general) was recorded and analyzed. The ERPs elicited by frequent (standard) and rare (deviant) pseudo-words by using a passive oddball paradigm of two conditions: (1) standards of legal stress patterns interspersed with deviants of illegal one (stress on the second syllable), and (2) standards of illegal stress and deviants of legal one. We found no significant difference in MMR responses between 6th and 10th months of age, however processing patterns differed (p<0.02) between preterm and term infants. Furthermore severity of prematurity associated with less stress discrimination accuracy at the illegal deviant condition (p<0.05). These results strengthen the view that longer extra-uterine language exposure doesn’t redound as a compensatory effect.

M Ranjan has completed MBBS and Postgraduate Master’s degree in Sri Lanka and Membership of the Royal College of Pediatrics and Child Health in UK. She is currently working as Specialty Trainee Doctor at ST7 level in Yorkshire and Humber deanery rotation in United Kingdom.

Introduction: CCHS is a rare disorder found in less than one per 100,000 new-borns. It affects the central and autonomous nervous system which controls many of the autonomic function in the body. The underlying cause is dominant mutation in the PHOX2B gene. The mutations are stable in transmission from generation to generation but penetrance and phenotype can still vary significantly. Case Report: A new-born was born in good condition following induction of labour for polyhydramnios at term. She developed respiratory distress at 4 hours of age needing intubation and ventilation at local hospital. She failed extubation once at local hospital and twice at tertiary care with marked CO2 retention during sleep. Her elder sibling of 4 years is being investigated for obstructive sleep apnoea and awaiting adenotonsillectomy. Rest of the history and examination were normal except poor antigravity movements during first few days of life. CCHS was confirmed by genetic testing for PHOX2B gene mutation after excluding metabolic disorders and spinal muscular atrophy (SMA). She was switched to non-invasive ventilation and transferred to long term ventilation (LTV) center specialized for tracheostomy and long-term home ventilation. We avoided suxamethonium during intubation. Family was referred for genetic counseling and professionals involved in the care of elder sibling were made aware of this diagnosis after parental consent. Conclusion: This case illustrates undiagnosed mild cases may be still at large and the importance of avoiding drugs causing prolonged neuromuscular blockade such as suxamethonium, atracurium, gentamicin etc. in hypotonia until spinal muscular disorders are excluded, to prevent unwarranted hyperkalemia; maintaining high index of suspicion in mildly symptomatic cases to avoid associated long-term morbidity and mortality and to permit early genetic testing and counseling for families; and referring to the local LTV specialist before a final decision to progress down the LTV pathway.