Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight

Abstract

Background: Prenatal glucocorticoid (GC) treatment of the female fetus with 21-hydroxylase deficiency (21-OHD) may prevent genital virilization and androgen effects on the brain, but prenatal GC therapy is controversial because of possible adverse effects on fetal programming, the cardiovascular system and the brain. Case Reports: We report 2 patients with congenital adrenal hyperplasia (CAH) due to 21-OHD who were treated prenatally with dexamethasone, suffered from an acute encephalopathy and showed focal and multifocal cortical and subcortical diffusion restrictions in early MRI and signs of permanent alterations in the follow-up neuroimaging studies. Both patients recovered from the acute episode. Whereas the first patient recovered without neurological sequelae the second patient showed hemianopsia and spastic hemiplegia in the neurological follow-up examination. Conclusion: These are 2 children with CAH, both treated prenatally with high doses of dexamethasone to prevent virilization. The question arises whether prenatal high-dose GC treatment in patients with CAH might represent a risk factor for brain lesions in later life. Adverse effects/events should be reported systematically in patients undergoing prenatal GC treatment and long-term follow-up studies involving risk factors for cerebrovascular disease should be performed.

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

“…Among pregnancies at risk for CAH, prenatally Dex-treated newborns have lower, but nominally normal, birth weights compared to untreated controls (470); the decrease averages ~400 g (471). Other adverse events including failure to thrive, stroke-like events and midline defects have been observed in both shortterm and full-term treated cases at risk for CAH (472)(473)(474).…”

Congenital Adrenal Hyperplasia-Associated Encephalopathy: A Case Report

“…In the literature, a few cases have been reported with acute encephalopathy or encephalopathic episodes in CAH patients [3,4,5]. Here, we report a case with CAH, presented with acute encephalopathy.…”

“…Intravenous hydrocortisone was administered but his level of consciousness did not recover. Recently, cases of CAH-related encephalopathy have been reported in literatüre [3,4,5]. Le et al [3] reported acute encephalopathy in three patients with CAH.…”

Pregnancy and Prenatal Management of Congenital Adrenal Hyperplasia

“…Some authors have reported an increased risk for normal to low birth weight and for cerebral palsy, albeit non-statistically significant [ 67 ]. Grunt et al reported two cases of acute encephalopathy, one of which with permanent sequelae [ 68 ].…”