L-tyrosine for treatment of an infant with nemaline rod myopathy.

Nemaline rod myopathy is an extremely rare muscle disease responsible for hypotonia and poor muscle strength in infants. The disease has variable phenotypic presentations across different ages, ranging from neonatal to the adult onset and from severe to asymptomatic varieties. Clinical features, muscle biopsy and genetic testing help in diagnosis. The histopathological examination shows the presence of rod-like structures or nemaline bodies in muscles. Management remains mainly supportive, and currently, there is no available curative treatment. This case report describes an infant presenting with gross hypotonia, poor handling of secretions and multiple extubation failures who was diagnosed by clinical exome sequencing. The patient harboured compound heterozygous variants in the NEB gene suggestive of nemaline rod myopathy. The newborn showed significant improvement in muscle strength after he was started on dietary L-tyrosine supplementation. This case highlights the emerging role of L-tyrosine in the supportive care of infants with nemaline rod myopathy.

Efficacy of an online lung ultrasound module on skill acquisition by clinician: a new paradigm.

Introduction: Lung ultrasound (LUS) as an assessment tool has seen significant expansion in adult, paediatric, and neonatal populations due to advancements in point-of-care ultrasound over the past two decades. However, with fewer experts and learning platforms available in low- and middle-income countries and the lack of a standardised supervised training programme, LUS is not currently effectively used to the best of its potential in neonatal units. Methodology: A cross-sectional survey assessed the efficacy of learning LUS via a mentor-based online teaching module (NEOPOCUS). The questionnaire comprised the clinicians' demographic profile, pre-course skills, and self-assessment of skill acquisition after course completion with ongoing hands-on practice. Results: A total of 175 clinicians responded to the survey, with the majority (87.9%) working in level 3 and 4 neonatal intensive care units. Clinicians had variable clinical experience. Of them, 53.2% were consultant paediatricians/neonatologists with over 10 years of experience. After the course, there was a significant increase in clinician confidence levels in diagnosing and assessing all LUS pathology, as evidenced by the increase in median cumulative scores [from baseline 6 (interquartile range, IQR, 6-9) to 20 (IQR 16-24), p < 0.001] with half of them gaining confidence within 3 months of the course. Conclusion: An online curriculum-based neonatal lung ultrasound training programme with clinician image demonstration and peer review of images for image optimisation increases self-reported confidence in diagnosing and managing neonatal lung pathology. Web-based online training in neonatal lung ultrasound has merits that can help with the delivery of training globally, and especially in low- and middle-income countries.

Successful interventional treatment of huge hepatic haemangioma in a neonate following failed medical approach.

An outborn male term neonate presented with a complaint of respiratory distress since birth on day 9 of life. On examination, baby was having tachypnoea, tachycardia and hepatomegaly. The baby was delivered at term gestation and cried immediately after birth. The chest X-ray showed cardiomegaly. The abdomen ultrasound showed a complex cystic vascular lesion suggestive of hepatic haemangioma. The echocardiography showed an atrial septal defect. The baby was initially treated conservatively along with specific treatment (steroids and propranolol) for haemangioma for 6 weeks. However, the symptoms persisted and there was non-resolution, therefore, particle embolisation of the right hepatic artery was performed. Subsequently, it resulted in complete resolution of the lesion.

Hydrometrocolpos: antenatal diagnosis and postnatal management.

Hydrometrocolpos is a rare finding in newborns. It can be an isolated finding or may be associated with syndromes. Antenatal diagnosis is possible. It is due to the accumulation of secretion in the uterus, distending it and resulting in abdominal swelling. In case of suspected syndromes, an attempt should be made to look for other organ involvement and genetic diagnosis. We here report a term neonate with hydrometrocolpos, which was antenatally diagnosed and was managed conservatively.

Evolution of Antenatally Diagnosed Bronchogenic Cyst in an Infant.

Bronchogenic cyst is one of the rare developmental lung conditions. Depending on the location, it can cause significant compression of the mediastinal structures, especially airways leading to atelectasis, emphysema, wheezing, and stridor. Computerized tomography helps in the confirmation of diagnosis. Surgery is definitive management. We present a case of bronchogenic cyst which presented as emphysema leading to respiratory emergency in an infant.

Giant Feeding Artery from Abdominal Aorta in Intralobar Pulmonary Sequestration.

Pulmonary sequestration (PS) is a rare congenital lung malformation. We present a case of newborn with antenatally diagnosed case of PS. The baby was delivered by cesarean section to primigravida mother at 38 + 3 weeks of gestation with birth weight of 2700 g. At 20 weeks of gestation, the antenatal ultrasound showed a triangular echogenic area in left lung supplied by feeding artery from descending aorta. The baby had respiratory distress soon after birth. Computerized tomographic pulmonary angiogram revealed abnormal blood supply of left lower lobe arising from descending aorta. The feeding vessel was abnormally large and was almost half of the diameter of the aorta. The baby underwent left lower lobectomy with double ligation of feeding artery at day 7 of life and was discharged on day 14 of life. Antenatal diagnosis of congenital lung malformation helps in careful planning of perinatal care and facilitates the early diagnosis and management.

Role of DVET in severe neonatal sepsis in an era of high antibiotic resistance: a retrospective observational study.

AIM: Sepsis is a significant cause of mortality and morbidity in the NICU despite the potent armamentarium of antibiotics. Recently, there has been a considerable increase in antimicrobial resistance even to high-end 3rd line antibiotics. Thus, there is a need to look into adjunctive therapies. This study aims to study the role of double volume exchange transfusion (DVET) in reducing mortality due to severe sepsis. METHODS: All neonates with severe sepsis admitted in NICU from January 2017 to September 2019 were included in the study. Seven neonates who met inclusion criteria and received DVET were compared to 21 gestation and severity matched controls, who received standard therapy (ST) alone. The primary outcome studied was mortality before discharge in both the groups. Other results analyzed were the incidence of persistent thrombocytopenia and refractory shock. RESULTS: There was a significant reduction in mortality in the intervention group (57% vs. 71% (p = .004). There was also a significant reduction both in the incidence of refractory shock (71% vs. 75%; p = .01) and persistent thrombocytopenia (86% vs. 65%; p = .03) in the DVET group. No significant adverse effects occurred following DVET. CONCLUSIONS: In neonates with severe sepsis, DVET may be a useful adjunct therapy. It may reduce mortality and decreased the incidence of refractory shock and thrombocytopenia. DVET is a safe procedure in severely sick and septic neonates.

Is application of salt for 3 days locally is sufficient to treat umbilical granuloma?

BACKGROUND: The falling of Umbilical stump occurs by 7-15 days of age. The healing of umbilical stump may be complicated by Umbilical Granuloma. It is often treated by chemical cauterisation which require repeated applications and may lead to local or systemic complications. Common salt by way of its dessicative property may help in treatment of Umbilical Granuloma. OBJECTIVE: The objective of the study is to assess the role of common salt application in umbilical granuloma. MATERIALS AND METHODS: This is retrospective study over 3 years from a pediatric surgery unit in Northern India. The study subjects were infants less than 10 weeks of age who presented with umbilical granuloma. The method of salt application was 1 pinch of common salt for 1 hour twice a day for 3 consecutive days. The babies were assessed at day 5th for resolution. The success was defined as thrice resolution after 3 cycles. The baseline demographic details were taken and the association of success of treatment was analyzed. RESULTS: A total of 36 infants were given treatment in form of common salt application for treatment of umbilical granuloma. The success of around 96% and the cases which presented early responded well. Most of the cases resolved after 3 cycles of treatment. CONCLUSION: The common salt application is effective in treatment of granuloma without any side effects.

Bubble CPAP splitting: innovative strategy in resource-limited settings.

BACKGROUND: Non-invasive respiratory support for neonates using bubble continuous positive airway pressure (bCPAP) delivery systems is now widespread owing to its safety, cost effectiveness and easy applicability. Many innovative solutions have been suggested to deal with the possible shortage in desperate situations like disasters, pandemics and resource-limited settings. Although splitting of invasive ventilation has been reported previously, no attempts to split non-invasive respiratory support have been reported. OBJECTIVE: The primary objective was to test the feasibility of splitting the bCPAP assembly using a T-piece splitter in a simulation model. METHODS: A pilot simulation-based study was done to split a single bCPAP assembly using a T-piece. Other materials consisted of a heated humidification system, an air oxygen blender, corrugated inspiratory and expiratory tubing, nasal interfaces and two intercostal chest tube drainage bags. Two pressure manometers were used simultaneously to measure delivered pressures at different levels of set bCPAPs at the expiratory limb of nasal interfaces. RESULTS: Pressures measured at the expiratory end of two nasal interfaces were 5.1 and 5.2 cm H2O, respectively, at a flow of 6 L/min and a water level of 5 cm H2O in both chest bags. When tested across different levels of set continuous positive airway pressure (3-8 cmH2O) and fractional inspired oxygen concentration (0.30-1.0), measured parameters corresponded to set parameters. CONCLUSION: bCPAP splitting using a T-piece splitter is a technically simple, feasible and reliable strategy tested in a simulation model. Further testing is needed in a simulated lung model.

Case of nasopharyngeal teratoma: challenges in the management.

Teratomas are tumour with tissue or organ components resembling normal derivatives of more than one germ layer. The most common site of congenital teratoma is sacrococcygeal region. Teratomas in head and neck region are rarer. We report a 4-day-old male baby who presented with nasopharyngeal mass, which led to respiratory distress and feeding difficulty. It was managed with surgical excision with multidisciplinary approach.

Situs inversus abdominalis, polysplenia, complex jejunal atresia and malrotation in a neonate: A rare association.

INTRODUCTION: Situs inversus, polysplenia, complex jejuna atresia are rare anomalies in isolation. Their association in a single patient is even rarer with challenges in diagnosis and management. PRESENTATION OF CASE: A 5 day old neonate presented with features of small bowel obstruction. Radiological investigations revealed situs inversus abdominalis with dilated proximal small bowel loops. At laparotomy, abdominal situs inversus, polysplenia, multiple jejunal atresias with apple peel appearance of the ileum with malrotation was seen. CONCLUSIONS: The association of situs inversus, polysplenia and complex jejunal atresia is very rare. Pre-operative diagnosis of situs inversus is important for appropriate incision placement and surgical planning.

Congenital Chylothorax in a Neonate with Cornelia de Lange Syndrome: A Rare Complication Managed with a Novel Indigenously Prepared Milk Formulation.

Congenital chylothorax is a relatively uncommon condition seen in newborn period. Treatment comprises of adequate pleural fluid drainage, octreotide infusion, total parenteral nutrition followed by medium chain triglyceride (MCT) based low fat milk preparations. The authors present a case of Cornelia de Lange syndrome with a rare presentation of antenatally diagnosed chlyothorax presenting at birth with respiratory distress. The baby was managed with skimmed milk formulation fortified with coconut oil providing low fat and high proteins.

Overgrowth syndrome in neonates: a rare case series with a review of the literature.

We present here two-term neonates presenting with right lower limb hypertrophy, a port-wine stain, acral abnormalities and clubfeet. These neonates had overlapping features of Klippel Trenaunay syndrome and congenital lipomatous overgrowth, vascular malformation, epidermal nevi and scoliosis/skeletal abnormalities. Such overgrowth syndrome has not been previously described in the literature. Both the neonates are doing well and are under regular follow-up.