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Introduction: Maple syrup urine disease (MSUD) is caused by the deficiency of branched‐chain keto acid dehydrogenase (BCKAD) and, it is well described that BCKAD contributed by an allograft following liver transplantation (LT) phenotypically normalizes this inborn error of metabolism (IEM). There is, however, a paucity of data especially with regards to the neurodevelopmental aspects and catch‐up growth profiles after LT in a resource‐challenged setting. We present our series of children under 6 years of age who underwent LT for MSUD particularly focusing on their amino acid homeostasis, neurodevelopmental and somatic growth profiles. Methods: Of 580 consecutive pediatric LT (PLT) performed between January 2011 and December 2022, all children who underwent LT for MSUD were included for analysis. Data accrued included peri‐LT details, pre‐ and post‐LT metabolic profile, neurodevelopmental assessment, somatic growth evaluation, and long‐term outcomes. Results: Six children underwent LT for MSUD with a median age and weight at LT of 20.5 (IQR: 8–60) months and 10.1 (IQR: 6.7–15.8) kg, respectively. One explanted liver was used as a domino graft for Arginase deficiency. Median follow‐up period was 52.5 (IQR: 27–94) months. None had vascular or biliary complications. Following LT, all children were started on an unrestricted protein diet and had normalization of BCAA levels. Post‐LT height and weight improved by 1 SD but did not achieve the normal profile. None of the children had neuro‐deterioration and have achieved new milestones. Conclusion: This is the first‐report presenting the growth aspects, amino acid and neurodevelopmental profiles of children who underwent LT for MSUD within the socio‐economic‐cultural idiosyncrasies and constraints prevalent in our part of the world. [ABSTRACT FROM AUTHOR]

Byline: Deepika. Sivathanu, Dhanarathnamoorthy. Vetrichelvan, Umamaheswari. Balakrishnan, Ranjith. Manokaran Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis. Infants with Joubert syndrome [...]

BACKGROUND AND OBJECTIVES Postnatal growth failure happens in about half of the very low birth weight infants and this can have long-term consequences. Human milk-based multi-nutrient fortifiers (HMBF) are thought to be better tolerated than bovine milk-based multi-nutrient fortifiers (BMBF), thus facilitating early progression to full feeds and improved growth in preterm neonates. This study was done to find the advantage of HMBF over BMBF on postnatal growth and other clinical outcomes. METHODS This is a retrospective cohort study where babies <1500 g birth weight or gestational age <32 weeks were included to compare the velocity of weight gain (g/kg/day), duration of hospital stay and clinical outcomes between fortification using HMBF and BMBF till 34 weeks postmenstrual age. RESULTS Eligible neonates included in the study were 322, out of whom 123 (37%) received HMBF and 209 (63%) received BMBF. During the stay, 18 babies were changed from BMBF to HMBF and vice versa in 24 babies due to logistic reasons and parents' preferences. The mean birth weight of the babies was 1124 ± 237 g. Weight gain was higher in the exclusive HMBF group [mean difference 0.77 (0.14, 1.39) g/kg/day; p -value = 0.018]. Feed intolerance [odds ratio (OR) 0.45 (0.22, 0.95), p -value 0.037] was also significantly less in this group. However, other morbidities did not differ significantly between the groups. CONCLUSION Higher weight gain and lower feed intolerance in the HMBF group underscores the possible advantage of using HMBF over BMBF. Larger prospective studies might bring out its effect on the duration of hospital stay and other morbidities. [ABSTRACT FROM AUTHOR]

In neonates with more than one clinical abnormalities, we always look for a unifying diagnosis that explains the entire clinical presentation. In rare instances, two conditions can co-exist. Here, we report a neonate born out of consanguineous marriage presenting at 48 hours of life with microcephaly, encephalopathy, hypertonia. He had excessive weight loss, persistent hyperkalaemia, shock and elevated level of 17- hydroxyprogesterone. Steroids were started for adrenal insufficiency. Magnetic resonance imaging (MRI) of the brain revealed T2 hyperintensity of cerebral white matter, hypomyelination and parenchymal volume loss causing microcephaly. Clinical exome sequencing (CES) revealed a pathogenic homozygous missense variation of CYP21A2 gene responsible for congenital adrenal hyperplasia and also the presence of a homozygous missense variant of unknown significance (VUS) of VARS gene implicated in neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA). Baby was neurologically abnormal at discharge. In the setting of consanguinity, there is a possibility of two genetic conditions. Clinical exome sequencing test is useful in demystifying the diagnosis in complex clinical presentation. [ABSTRACT FROM AUTHOR]

Non-bilious vomiting in preterm neonates discharged from neonatal intensive care units is a common complaint and is often associated with benign conditions such as gastro-oesophageal reflux. A neonate of 27 weeks gestation who presented later with vomiting owing to gastric outlet obstruction is described. He was discharged at 11 weeks of age and required re-admission 1 week later. He had persistent non-bilious vomiting from 7 weeks of age, failure to thrive and metabolic alkalosis. Clinical examination demonstrated visible gastric peristalsis, and hypertrophic pyloric stenosis was suspected. Ultrasound of the gastric pylorus and upper gastro-intestinal contrast studies were negative. Exploratory laparotomy after failure of conservative management revealed a thickened mucosal fold in the gastric pylorus, which was excised. Histopathology demonstrated inclusion bodies which are pathognomonic of cytomegalovirus infection. He was treated with valganciclovir for 6 weeks and was asymptomatic and thriving well at follow-up. Gastric outlet obstruction can be one of the manifestations of CMV infection of the gastro-intestinal tract. Diagnosis can be confirmed only by histopathology. Abbreviations: BPD: bronchopulmonary dysplasia; CMV: cytomegalovirus; H&E: haematoxylin and eosin; IHC: immunohistochemistry; IHPS: infantile hypertrophic pyloric stenosis; NEC: necrotising enterocolitis; PCR: polymerase-chain reaction; VGP: visible gastric peristalsis. [ABSTRACT FROM AUTHOR]

We present the diagnostic dilemma of a neonate with two umbilical soft tissue masses. Case report: The baby had an umbilical mass herniating through the umbilical cord, and another mass hanging from the umbilical mass by a string of tissue. Both masses were amorphous solid soft tissues and the hanging mass had hair on the surface. Clinical diagnosis was umbilical cord teratoma. However, histopathological examination of the masses showed that tissues representing various organs were arranged in cephalocaudal order as in a fetus, revealing that it was a parasitic twin. The hanging mass was probably the cephalic part and the umbilical mass was malformed torso and limbs. Conclusion: This parasitic omphalopagus heteropagus parasitic twin presented as two amorphous masses without externally identifiable anatomic structure, The parasitic twin of omphalopagus heteropagus may have unusual presentations. Histopathological examination was essential to diagnose whether it is a twin or a tumor. [ABSTRACT FROM AUTHOR]