Cerebral infarction in a child with congenital adrenal hyperplasia presenting as acute encephalitis syndrome

Abstract

Congenital Adrenal Hyperplasia (CAH) is an inherited abnormality of steroid synthesis. It is usually diagnosed in the early neonatal period. Its association with white matter abnormalities in the developing brain has been reported. Cerebral infarction is one of the rarely associated complications of classical CAH. A 5-year-old child had presented with features of acute onset fever, refractory new-onset seizure, and altered sensorium. He was a known case of CAH, on regular exogenous steroid supplementation. Investigations revealed that he had extensive hemorrhagic cerebral infarction. No underlying infective or vascular cause could be detected to explain the etiology of cerebral infarction in this child. Hence, the effect of CAH on the developing brain and an inadequate escalation of steroid dose during stress have led to the cerebral infarction.

Emphasizing Pulmonary Function With Respiratory Therapy in an Infant With Congenital Adrenal Hyperplasia, Bronchopneumonia and Leptomeningitis

“…CAH is a condition that affects the production of adrenal hormones. Adrenal hormones, among the modulator chemicals, have been hypothesized to have essential regulatory and trophic effects on central nervous system cell survival, differentiation, maturation, and synaptogenesis [ 1 ]. Glucocorticoid (GC) programs that strike the right ratio among adequate growth and maturation while limiting hyperandrogenism and the potential for undesirable outcomes attributed to adrenal insufficiency are required for the best care of children with CAH [ 11 ].…”

“…It is caused by a genetically acquired impairment of enzymes engaged in the production of glucocorticoids and mineralocorticoids. It is usually detected using a neonatal metabolic testing panel in the initial neonatal period [ 1 ]. 21-hydroxylase deficiency (21OHD, CYP21A2 mutation) represents the most prevalent enzyme deficit (90%-99%) causing CAH, with a frequency of about 1 in 15,000, although being more prevalent in some racial backgrounds.…”