Neonatal Alexander Disease: MR Imaging Prenatal Diagnosis

E Vázquez,M.A Poca,A Macaya,N Mayolas,G Enríquez,S Arévalo

doi:10.3174/ajnr.a1215

Abstract

Alexander disease (AD) is a rare neurodegenerative disorder characterized by megalencephaly, leukoencephalopathy, and Rosenthal fibers within astrocytes. This report describes the case of a female patient with sonography-detected ventriculomegaly at 32 weeks' gestation and distinctive MR imaging features at 33 and 36 weeks' gestation, at birth, and at 2 months of age, which led to the suggested diagnosis of Alexander disease. Molecular analysis confirmed a missense mutation in the GFAP gene. The literature contains little information on the fetal MR imaging findings that may allow prenatal diagnosis of AD.

Highlights

The most distinctive histologic feature of Alexander disease (AD) is the presence of countless Rosenthal fibers throughout the CNS
Presence of prenatal hydrocephalus and abnormal frontal white matter make us rule out AD
Infantile AD is the most common, accounting for approximately 80% of cases

Summary

CASE REPORT

SUMMARY: Alexander disease (AD) is a rare neurodegenerative disorder characterized by megalencephaly, leukoencephalopathy, and Rosenthal fibers within astrocytes. This report describes the case of a female patient with sonography-detected ventriculomegaly at weeks’ gestation and distinctive MR imaging features at and 36 weeks’ gestation, at birth, and at 2 months of age, which led to the suggested diagnosis of Alexander disease. Molecular analysis confirmed a missense mutation in the GFAP gene.

Findings

PEDIATRICS CASE REPORT

Discussion