Potential benefit of rapid genetic testing for Pallister-Hall syndrome.

Pallister-Hall syndrome (PHS) is defined as a group of characteristic manifestations caused by a monoallelic pathogenic variant. A two-month-old infant was referred to our institution because of undetermined sex. The infant had atypical genitalia with postaxial polysyndactyly, a hypothalamic mass, and an imperforate anus.

A case of severe neonatal transient hyperinsulinemic hypoglycaemia without identifiable risk factors: a case report.

Background: Neonatal hypoglycaemia is one of the major metabolic disorders that causes irreversible brain injury. Assessing for maternal glucose metabolism disorders can predict and avoid this perinatal complication. Accordingly, diagnosing maternal gestational diabetes mellitus (GDM) is important in protecting neonatal neurological prognosis.

Midodrine, an Oral Alpha-1 Adrenoreceptor Agonist, Successfully Treated Refractory Congenital Chylous Pleural Effusion and Ascites in a Neonate.

A trisomy 21 neonate presented with congenital chylous pleural effusion and ascites that was refractory to conventional pharmacotherapy. Midodrine, an oral alpha-1-adrenoreceptor agonist, achieved remission of chylous effusion without any adverse effects. To the best of our knowledge, this is the first neonatal case of successful management of congenital chylous pleural effusion and ascites with midodrine.

A neonate with intestinal volvulus without malrotation exhibiting early jaundice with a suspected fetal onset.

Intestinal volvulus without malrotation is a rare disease that causes volvulus of the small intestine despite normal intestinal rotation and fixation. We encountered a neonate with this disease who developed early jaundice and was suspected to have a fetal onset. This patient was characterized by early jaundice complicating intestinal volvulus without malrotation and is considered to have exhibited reduced fetal movement and early jaundice as a result of volvulus, necrosis, and hemorrhage of the small intestine in the fetal period.