Objective: We present a case of a patient with adult-onset cerebellar ataxia and palatal tremor secondary to an uncommon vascular cause.

Background: Capillary telangiectasias (CT) are benign lesions with a clear predilection for the pons. CT are usually detected incidentally, and symptomatic CT are uncommon although brainstem deficits have been described such as sensorineural hearing loss, tremor, cranial nerve dysfunction, weakness or paroxysmal movements.

Method: 56-year-old man with progressive cerebellar and bulbar syndrome of 2 years of evolution. No family neurological history. In February 2020, he presented postural tremor in left hand that progressed to contralateral side. Two months later, he developed gait instability with lateralization to the right, although he did not fall. Subsequently, he noticed binocular vertical diplopia, dysphagia and hypophonia. In neurological examination, dysarthria, diplopia and rotatory pendular nystagmus in all gaze positions were observed. Dysmetria in finger-nose test in upper limbs was detected with truncal and gait ataxia. 2 Hz palatal tremor was also present. Myoclonus was observed in upper limbs. The patient did not show oculocutaneous telangiectasias.

Results: Analytical study was performed including liver, renal and thyroid profiles, vitamin A, E, B1, B12, folic acid, copper, and zinc. Blood smear without acanthocytes. Serologies were negative. Normal CSF analysis. Negative onconeuronal antibodies in blood and CSF, except for slightly positive antirecoverin antibodies.
Magnetic resonance imaging with vascular sequences showed a large mesencephalic capillary telangiectasia at the level of both red nuclei and another smaller telangiectasia at the bulbomedullary junction, with no other telangiectasias or other arteriovenous malformations in the central nervous system. Hypertrophic degeneration of the bilateral bulbar olive was observed, secondary to the previously described lesion affecting Guillain-Mollaret triangle. The diagnosis of mesencephalic capillary telangiectasia was confirmed by arteriography.
Genetic study including POLG, GFAP gene and SCA20 genetic study was negative.

Conclusion: CT are clinically benign entity but symptomatic CT in eloquent locations, mainly pons, have been described. Telangiectasias are isolated from the vascular territory of the CNS and endovascular treatment cannot be performed.

References: Gross BA, Puri AS, Popp AJ, Du R. Cerebral capillary telangiectasias: a meta-analysis and review of the literature. Neurosurg Rev. 2013 Apr;36(2):187-93; discussion 194. doi: 10.1007/s10143-012-0435-9. Epub 2012 Nov 29. PMID: 23192650.
Orgun LT, Arhan E, Aydın K, Serdaroglu A, Gücüyener K. Symptomatic capillary telangiectasia of the pons: three pediatric cases diagnosed by suspectibility-weighted imaging. Childs Nerv Syst. 2016 Nov;32(11):2261-2264. doi: 10.1007/s00381-016-3110-6. Epub 2016 May 19. PMID: 27193129.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/giant-symptomatic-capillary-telangiectasia-uncommon-cause-of-cerebellar-ataxia/