Neonatal Alexander disease: MR imaging prenatal diagnosis.

[alexander disease]

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 .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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