Neurodevelopmental Symptoms Associated With MIRAGE Syndrome: A Case Report of Three Children and Review of the Literature.

BACKGROUND

MIRAGE syndrome, an acronym for myelodysplasia, infections, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy, is a multisystem genetic condition due to variants in sterile alpha motif domain-containing protein 9. Neurodevelopmental features are infrequently documented with this condition.

METHODS

Informed consent was obtained from families. A retrospective chart review was done to document the phenotype. A literature review was done to identify neurodevelopmental features and causes of death that have been documented.

RESULTS

Three individuals with MIRAGE syndrome were included. A spectrum of neurological features were seen including hypotonia, seizures, cerebral and cerebellar hypoplasia, lenticulostriate vasculopathy, and ventriculomegaly, as well as early death from noninfectious processes. Additionally, we report a case of malignant hyperthermia.

CONCLUSIONS

This report expands on the neurological phenotype and supports the need for further research to understand the neuropathologic process to provide more informed prognostic information to families.