Contributions
Abstract: EP1302
Type: Poster Sessions
Abstract Category: Clinical aspects of MS - Diagnosis and differential diagnosis
Introduction: Up to 5 % of the patients with MS lack oligoclonal bands (OCB) in the CSF. Recent reports highlight the importance of an accurate MS diagnosis particularly in OCB-negative patients. Around 10% of progressive MS patients may have been misdiagnosed. We have previously reported on the inventory of OCB-negative patients in the National Swedish MS Registry, locally in Uppsala. Out of altogether 750 MS patients, 42 were OCB-negative. Ten of these were reexamined and two were rediagnosed with leukodystrophies,based on genetics (mutations in the ABCD1-, DARS gene respectively).
Aim: A retrospective imaging study was done in order to scrutinize the preceding diagnostic process.
Method: Previous MRIs of the brain and spine according to a MS protocol were analysed. and new MRIs were performed, including axial projections of the spine.
Results: Both patients were women in their fifties, having had an MS diagnosis for many decades. Both had motor symptoms of the lower extremities, and one had polyneuropathy.
The first patient with adrenomyeloneuropathy had one single ovoid supratentorial lesion, cerebellar atrophy and T2 lesions along the dorsal cervical and thoracal medulla, the latter displaying a discrete widening of the central channel and atrophy.
The second patient with leukodystrophy had several supra- and infratentorial white matter lesions, engaging the pons, cerebellum and brainstem but no new lesions between two MR scans eleven years apart. Symmetrical confluent white matter changes in the brain stem and cervical spinal were sharply delineated. An intramedullar cavity along the thoracal medulla supported atrophy
Conclusion: Female carriers of leukodystrophy genes may have a late, slow and mild phenotype and may lack typical radiological features associated in males with early onset. White matter changes may to some extent mimic MS, and a thorough radiological investigation is needed, with special focus on axial projections of the spinal cord.
Disclosure: AM Landtblom nothing to disclose
E Katsarogiannis nothing to disclose
SG Berntsson nothing to disclose
A Kristoffersson nothing to disclose
I Boström nothing to disclose
R Semnic nothing to disclose
Abstract: EP1302
Type: Poster Sessions
Abstract Category: Clinical aspects of MS - Diagnosis and differential diagnosis
Introduction: Up to 5 % of the patients with MS lack oligoclonal bands (OCB) in the CSF. Recent reports highlight the importance of an accurate MS diagnosis particularly in OCB-negative patients. Around 10% of progressive MS patients may have been misdiagnosed. We have previously reported on the inventory of OCB-negative patients in the National Swedish MS Registry, locally in Uppsala. Out of altogether 750 MS patients, 42 were OCB-negative. Ten of these were reexamined and two were rediagnosed with leukodystrophies,based on genetics (mutations in the ABCD1-, DARS gene respectively).
Aim: A retrospective imaging study was done in order to scrutinize the preceding diagnostic process.
Method: Previous MRIs of the brain and spine according to a MS protocol were analysed. and new MRIs were performed, including axial projections of the spine.
Results: Both patients were women in their fifties, having had an MS diagnosis for many decades. Both had motor symptoms of the lower extremities, and one had polyneuropathy.
The first patient with adrenomyeloneuropathy had one single ovoid supratentorial lesion, cerebellar atrophy and T2 lesions along the dorsal cervical and thoracal medulla, the latter displaying a discrete widening of the central channel and atrophy.
The second patient with leukodystrophy had several supra- and infratentorial white matter lesions, engaging the pons, cerebellum and brainstem but no new lesions between two MR scans eleven years apart. Symmetrical confluent white matter changes in the brain stem and cervical spinal were sharply delineated. An intramedullar cavity along the thoracal medulla supported atrophy
Conclusion: Female carriers of leukodystrophy genes may have a late, slow and mild phenotype and may lack typical radiological features associated in males with early onset. White matter changes may to some extent mimic MS, and a thorough radiological investigation is needed, with special focus on axial projections of the spinal cord.
Disclosure: AM Landtblom nothing to disclose
E Katsarogiannis nothing to disclose
SG Berntsson nothing to disclose
A Kristoffersson nothing to disclose
I Boström nothing to disclose
R Semnic nothing to disclose