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Published on: January 7, 2019
Involvement of peripheral and central nervous systems in a valosin-containing protein mutation
Kurt Segers1, Gerald Glibert1, Johan Callebaut2
1Department of Neurology, The Brugmann University Hospital, Brussels, Belgium.
Background:
Inclusion-body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) is a rare, late-onset autosomal disorder arising from missense mutations in a gene coding for valosin-containing protein.
Case Report:
We report the case of a man carrying the previously described p.Arg159His mutation, who had an unusual axonal sensorimotor neuropathy as the first clinical manifestation of IBMPFD, and for whom diagnosis only became clear 8 years later when the patient developed frontotemporal dementia.
Conclusions:
Peripheral neuropathy is a rare manifestation of IBMPFD. This underdiagnosed disorder should be considered when a patient develops dementia or has signs of Paget's disease.
Insights
Inclusion-body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) can present with neuropathy. Early recognition of this rare disorder is crucial, even with atypical initial symptoms like dementia or Paget's disease.
Area of Science:
- Genetics
- Neurology
- Bone Metabolism
Background:
- Inclusion-body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) is a rare, late-onset autosomal disorder.
- It is caused by missense mutations in the gene encoding valosin-containing protein.
Purpose of the Study:
- To highlight an unusual presentation of IBMPFD.
- To emphasize the importance of considering IBMPFD in patients with atypical neurological symptoms.
Main Methods:
- Case report of a male patient with IBMPFD.
- Detailed clinical history and genetic analysis.
Main Results:
- The patient presented with an axonal sensorimotor neuropathy as the initial symptom.
- Diagnosis of IBMPFD was confirmed 8 years later upon development of frontotemporal dementia.
- The patient carried the p.Arg159His mutation.
Conclusions:
- Peripheral neuropathy is an uncommon manifestation of IBMPFD.
- IBMPFD should be suspected in patients presenting with dementia or Paget's disease.
- This highlights the diagnostic challenge of IBMPFD with atypical presentations.
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