Résumé
Cerebrotendinous xanthomatosis (CTX) is exceptionally rare in the Indian population. We present and discuss the clinical, radiological and histopathologic findings in 2 siblings with CTX. Both the patients had juvenile cataract, mental retardation and marked cerebellar ataxia. The Achilles tendon swelling was present in only 1 patient (Case 2). MR imaging showed typical bilateral and symmetrical involvement of the dentate nuclei, inferior olives, brainstem and cerebellar hemispheric white matter. Although the diagnosis of CTX was made in the 3rd decade in both our cases, early diagnosis is possible if neuroimaging is done in the early course of the disease.
Sujets)
Adulte , Santé de la famille , Femelle , Humains , Inde , Imagerie par résonance magnétique , Mâle , Fratrie , Tomodensitométrie , Xanthomatose cérébrotendineuse/anatomopathologieRésumé
The association of internuclear ophthalmoplegia (INO) with torsional nystagmus is rare. We report a case of a 72-year-old male who developed brainstem stroke and was found to have left INO with torsional nystagmus. An MRI correlation in this case has been described.