Rare Diseases Symptoms Automatic Extraction

Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.

[x-linked adrenoleukodystrophy]

X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech, dysmetria in all limbs, difficulties in balancing, and gait ataxia. Brain magnetic resonance imaging showed an isolated signal change of white matter around the dentate nucleus in cerebellum. With high level of very long chain fatty acid, gene study showed a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p.Ala100Cysfs*10) of the adenosine triphosphate-binding cassette D1 gene. It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellar degeneration symptoms.

Diseases presenting "high level" symptom

  • 22q11.2 deletion syndrome
  • aniridia
  • cadasil
  • carcinoma of the gallbladder
  • cohen syndrome
  • congenital toxoplasmosis
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • hodgkin lymphoma, classical
  • inclusion body myositis
  • liposarcoma
  • lymphangioleiomyomatosis
  • omenn syndrome
  • oral submucous fibrosis
  • pyomyositis
  • scrub typhus
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • x-linked adrenoleukodystrophy

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