GDNF levels in preterm newborns were higher in cord blood and lower in CSF as compared to term newborns. It is important to further study circulating and CSF-GDNF levels in newborns at different gestational ages and clinical conditions.
Harlequin ichthyosis (HI) is associated with high mortality. Early systemic retinoids are widely used, although their use remains debatable. We reported two neonates with homozygous mutations in ABCA12 consistent with harlequin ichthyosis who survived to discharge home with intensive care and without use of systemic retinoids.
A 3-year-old boy with no known significant past medical history apart from mild speech delay presented with a 10-day history of an upper respiratory infection and intermittent low-grade fever followed by irritability, lethargy, and an unsteady gait. He had complained of diffuse body aches. Parents denied any rash, vomiting or diarrhea, seizures, drug ingestion, or head injury. There was no history of recent travel or vaccinations. Immunizations were upto-date. On admission, vitals were as follows: blood pressure 123/57 mm Hg, pulse 141/min, temperature 37.5°C (oral), respiratory rate 32/min, height 96.5 cm, weight 17.237 kg, body mass index 18.51 kg/m 2 , and SpO 2
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