Radiological similarities between Xp21 deletion syndrome-related adrenal hypoplasia congenita and congenital adrenal hyperplasia in hypoglycemic encephalopathy: a case report
Case report reveals cortical laminar necrosis and white matter atrophy after hypoglycemic crisis in Xp21 deletion syndrome, highlighting severe brain injury risk in adrenal disorders.
Key Points
To document the serial neuroimaging characteristics and clinical progression of hypoglycemic encephalopathy in a pediatric patient with Xp21 deletion syndrome-related adrenal hypoplasia congenita.
Clinical and longitudinal neuroimaging evaluation of a 16-month-old male presenting with adrenal crisis-induced hypoglycemic encephalopathy and persistent seizures (N=1).
Sequential brain MRI scans performed at 24 hours, day 9, day 30, and 10 months following symptom onset.
Initial MRI at 24 hours showed bilateral cortical diffusion restriction predominantly in the occipital lobes, which intensified with new subcortical T2 hyperintensities by day 9.
Subsequent neuroimaging revealed cortical laminar necrosis and extensive bilateral white matter hyperintensities by day 30, progressing to diffuse white matter atrophy at 10 months.