Limits...
Involvement of peripheral and central nervous systems in a valosin-containing protein mutation.

Segers K, Glibert G, Callebaut J, Kevers L, Alcan I, Dachy B - J Clin Neurol (2014)

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, The Brugmann University Hospital, Brussels, Belgium.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus

Selected transversal slide from computed tomography of the pelvis. Note the prominent atrophy of the left quadriceps (white arrow) compared to the right side.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4017021&req=5

Figure 2: Selected transversal slide from computed tomography of the pelvis. Note the prominent atrophy of the left quadriceps (white arrow) compared to the right side.

Mentions: The patient rapidly developed frontal lobe symptoms 8 years later. He stayed fully oriented but became apathetic, dysphoric, and verbally aggressive. He showed perseverations and paraphasias in conversation and had become deaf in his left ear. He had no hallucinations, frontal release signs, or sphincter problems, and normal oculomotricity. He had paraparesis that especially affected the psoas muscles, hamstrings, and dorsiflexors of the feet, with relative sparing of flexor muscles. There was slight muscle atrophy, which, like the paraparesis, was more pronounced in the left quadriceps (Fig. 2). However, the upper limbs could exert normal forces. The Babinski sign had disappeared but there was a bilateral Hoffmann-Trömner sign and generalized hyperreflexia, except for the ankle reflexes, which were absent. The patient refused formal neuropsychological testing.


Involvement of peripheral and central nervous systems in a valosin-containing protein mutation.

Segers K, Glibert G, Callebaut J, Kevers L, Alcan I, Dachy B - J Clin Neurol (2014)

Selected transversal slide from computed tomography of the pelvis. Note the prominent atrophy of the left quadriceps (white arrow) compared to the right side.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4017021&req=5

Figure 2: Selected transversal slide from computed tomography of the pelvis. Note the prominent atrophy of the left quadriceps (white arrow) compared to the right side.
Mentions: The patient rapidly developed frontal lobe symptoms 8 years later. He stayed fully oriented but became apathetic, dysphoric, and verbally aggressive. He showed perseverations and paraphasias in conversation and had become deaf in his left ear. He had no hallucinations, frontal release signs, or sphincter problems, and normal oculomotricity. He had paraparesis that especially affected the psoas muscles, hamstrings, and dorsiflexors of the feet, with relative sparing of flexor muscles. There was slight muscle atrophy, which, like the paraparesis, was more pronounced in the left quadriceps (Fig. 2). However, the upper limbs could exert normal forces. The Babinski sign had disappeared but there was a bilateral Hoffmann-Trömner sign and generalized hyperreflexia, except for the ankle reflexes, which were absent. The patient refused formal neuropsychological testing.

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, The Brugmann University Hospital, Brussels, Belgium.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus