Rare Diseases Symptoms Automatic Extraction

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 presenting "female patient" symptom

  • achondroplasia
  • adrenal incidentaloma
  • alexander disease
  • aniridia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • coats disease
  • cohen syndrome
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • epidermolysis bullosa simplex
  • esophageal squamous cell carcinoma
  • fabry disease
  • holt-oram syndrome
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kallmann syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • monosomy 21
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • pendred syndrome
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • x-linked adrenoleukodystrophy

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