Radiological similarities between Xp21 deletion syndrome-related adrenal hypoplasia congenita and congenital adrenal hyperplasia in hypoglycemic encephalopathy: a case report

Background Xp21 deletion syndrome is a rare disorder that causes glycerol kinase deficiency, Duchenne muscular dystrophy, and adrenal hypoplasia congenita (AHC). Currently, there is only one case of hypoglycemic encephalopathy associated with Xp21 deletion syndrome-related AHC has been reported; however, actual images were not provided. Case presentation We describe the case of a 16-month-old boy with Xp21 deletion syndrome–related AHC who developed hypoglycemic encephalopathy during an adrenal crisis. Despite prompt glucose correction, stress-dose steroids, intravenous immunoglobulin, and anticonvulsant therapy, impaired consciousness and seizures persisted. Brain MRI performed 24 h after onset showed bilateral cortical diffusion restriction, most prominently in the occipital lobes. By day 9, diffusion restriction intensified and new subcortical hyperintensities appeared on T2-weighted images. By day 30, diffusion restriction persisted in parts of the bilateral occipital cortex, which also showed faint hyperintensity on T1-weighted and fluid-attenuated inversion recovery images, suggesting cortical laminar necrosis. Additionally, extensive hyperintensities were observed from the subcortical to deep white matter across both hemispheres on T2-weighted images. At 10 months after onset, diffuse white matter atrophy was observed. Conclusion Here, we describe a case of Xp21 deletion syndrome-related AHC complicated by hypoglycemic encephalopathy secondary to adrenal crisis that presented with cortical laminar necrosis and extensive white matter abnormalities. In cases of Xp21 deletion syndrome-related AHC complicated by acute adrenal insufficiency and hypoglycemia, attention should be paid to the potential development of extensive brain injury similar to that observed in congenital adrenal hyperplasia.