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Related Experiment Videos

Voiding dysfunction in a patient with adolescent adrenoleukodystrophy.

H Shinbo1, S Kageyama, S Hayami

  • 1Department of Urology, Hamamatsu University School of Medicine, Hamamatsu, Japan. kage3309@hama-med.ac.jp

International Journal of Urology : Official Journal of the Japanese Urological Association
|March 22, 2001
PubMed
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Adrenoleukodystrophy can cause bladder dysfunction, including detrusor hyperreflexia, in adolescent males. This case highlights the neurological impact of the disease beyond motor symptoms.

Area of Science:

  • Neurology
  • Urology

Background:

  • Adrenoleukodystrophy (ALD) is an inherited metabolic disorder affecting the adrenal glands, testes, and central nervous system.
  • ALD is characterized by progressive demyelination and axonal degeneration, leading to neurological deficits.

Observation:

  • A Japanese adolescent male with ALD presented with gait disturbance at age 15.
  • Progressive spastic paraparesis developed, affecting both legs and hands.
  • Brain MRI revealed characteristic degenerative changes consistent with ALD.

Findings:

  • Urodynamic studies identified detrusor hyperreflexia, indicating involuntary bladder muscle contractions.
  • Detrusor-sphincter dyssynergia was suspected, suggesting impaired coordination between the bladder and urethral sphincter.

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Implications:

  • This case underscores the potential for bladder dysfunction in ALD, impacting quality of life.
  • Early recognition and urodynamic assessment are crucial for managing neurological complications of ALD.