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Van Buchem disease: First case report in Taiwan.

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This case report details the first instance of Van Buchem disease (VBD) in Taiwan, a rare genetic disorder. Early recognition of VBD symptoms is crucial for patient management and future therapeutic development.

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Area of Science:

  • Genetics
  • Rare Diseases
  • Neurology

Background:

  • Van Buchem disease (VBD) is an exceptionally rare autosomal recessive disorder.
  • This report marks the first documented case of VBD in Taiwan.
  • Understanding VBD is critical due to its rarity and potential for significant health impacts.

Observation:

  • A 54-year-old female presented with characteristic VBD symptoms including macrocephaly, frontal bossing, and mandibular prognathism.
  • Progressive bilateral visual and hearing impairments, headaches, facial palsy, trigeminal neuralgia, and back pain were noted.
  • Diagnosis was confirmed through phenotypic analysis, skeletal imaging, and family history.

Findings:

  • The patient received symptomatic treatment and surgical decompression for spinal stenosis.
  • Despite interventions, her clinical condition showed limited improvement, highlighting treatment challenges.

Implications:

  • This case underscores the importance of recognizing rare genetic disorders like VBD.
  • Increased clinician awareness of VBD's signs and symptoms can facilitate earlier diagnosis.
  • Further research into VBD pathogenesis may pave the way for effective curative therapies.