Abstract
Adult onset cerebral X-ALD (AOCALD) is a rare disease, but should be considered an important differential diagnosis in adults presenting with leukencephalopathy. We here report the case of a 40-year-old man with a history of progressive cognitive decline who presented with a first-time seizure. Initial workup included magnetic resonance imaging (MRI) of the brain which showed extensive frontotemporal leukoencephalopathy. A subsequent brain biopsy showed demyelination and perivascular macrophages. Further workup included serum very long chain fatty acid concentration (VLCFA), which was found to be elevated. An MRI of the total spine showed diffuse atrophy, but no intrinsic cord signal changes, and the diagnosis of AOCALD was established. Genomic sequencing revealed a nonsense mutation in exon 8 (2188G→A, W601X), to our knowledge not reported in context with AOCALD. A family pedigree was obtained, and other family members at risk were identified and underwent genetic counseling. In conclusion, AOCALD is an important differential diagnosis in adults presenting with cognitive decline. While treatment for affected patients is often supportive only, molecular diagnosis serves as a basis for genetic counseling, identification of relatives at risk and timely referral to a treatment program.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 235-237 |
| Number of pages | 3 |
| Journal | Journal of the Neurological Sciences |
| Volume | 285 |
| Issue number | 1-2 |
| DOIs | |
| State | Published - Oct 15 2009 |
| Externally published | Yes |
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Keywords
- Adrenoleukodystrophy
- Adult onset
- Cerebral
- Leukoencephalopathy
- Nonsense mutation
- Very long chain fatty acids
ASJC Scopus subject areas
- Neurology
- Clinical Neurology
Cite this
Leukoencephalopathy in adults : Is it adrenoleukodystrophy? A case report and molecular analysis. / Dohle, Carolin I.; Bannykh, Serguei I.; Hisama, Fuki M.; Baehring, Joachim M.
In: Journal of the Neurological Sciences, Vol. 285, No. 1-2, 15.10.2009, p. 235-237.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Leukoencephalopathy in adults
T2 - Is it adrenoleukodystrophy? A case report and molecular analysis
AU - Dohle, Carolin I.
AU - Bannykh, Serguei I.
AU - Hisama, Fuki M.
AU - Baehring, Joachim M.
PY - 2009/10/15
Y1 - 2009/10/15
N2 - Adult onset cerebral X-ALD (AOCALD) is a rare disease, but should be considered an important differential diagnosis in adults presenting with leukencephalopathy. We here report the case of a 40-year-old man with a history of progressive cognitive decline who presented with a first-time seizure. Initial workup included magnetic resonance imaging (MRI) of the brain which showed extensive frontotemporal leukoencephalopathy. A subsequent brain biopsy showed demyelination and perivascular macrophages. Further workup included serum very long chain fatty acid concentration (VLCFA), which was found to be elevated. An MRI of the total spine showed diffuse atrophy, but no intrinsic cord signal changes, and the diagnosis of AOCALD was established. Genomic sequencing revealed a nonsense mutation in exon 8 (2188G→A, W601X), to our knowledge not reported in context with AOCALD. A family pedigree was obtained, and other family members at risk were identified and underwent genetic counseling. In conclusion, AOCALD is an important differential diagnosis in adults presenting with cognitive decline. While treatment for affected patients is often supportive only, molecular diagnosis serves as a basis for genetic counseling, identification of relatives at risk and timely referral to a treatment program.
AB - Adult onset cerebral X-ALD (AOCALD) is a rare disease, but should be considered an important differential diagnosis in adults presenting with leukencephalopathy. We here report the case of a 40-year-old man with a history of progressive cognitive decline who presented with a first-time seizure. Initial workup included magnetic resonance imaging (MRI) of the brain which showed extensive frontotemporal leukoencephalopathy. A subsequent brain biopsy showed demyelination and perivascular macrophages. Further workup included serum very long chain fatty acid concentration (VLCFA), which was found to be elevated. An MRI of the total spine showed diffuse atrophy, but no intrinsic cord signal changes, and the diagnosis of AOCALD was established. Genomic sequencing revealed a nonsense mutation in exon 8 (2188G→A, W601X), to our knowledge not reported in context with AOCALD. A family pedigree was obtained, and other family members at risk were identified and underwent genetic counseling. In conclusion, AOCALD is an important differential diagnosis in adults presenting with cognitive decline. While treatment for affected patients is often supportive only, molecular diagnosis serves as a basis for genetic counseling, identification of relatives at risk and timely referral to a treatment program.
KW - Adrenoleukodystrophy
KW - Adult onset
KW - Cerebral
KW - Leukoencephalopathy
KW - Nonsense mutation
KW - Very long chain fatty acids
UR - http://www.scopus.com/inward/record.url?scp=69549091692&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=69549091692&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2009.06.012
DO - 10.1016/j.jns.2009.06.012
M3 - Article
C2 - 19592040
AN - SCOPUS:69549091692
VL - 285
SP - 235
EP - 237
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -