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Neurology 2003;60:57-63
© 2003 American Academy of Neurology

Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy

K. Vahedi, MD, P. Massin, MD, J.-P. Guichard, MD, S. Miocque, MD, M. Polivka, MD, F. Goutières, MD, D. Dress, MD, F. Chapon, MD, M.-M. Ruchoux, MD PhD, F. Riant, MD, A. Joutel, MD PhD, A. Gaudric, MD, M.-G. Bousser, MD and E. Tournier-Lasserve, MD

From the Service de Neurologie (Drs. Vahedi and Bousser), Service d’Ophtalmologie (Drs. Massin and Gaudric), Service de Neuroradiologie (Dr. Guichard), Service d’Anatomie et Cytologie Pathologiques (Dr. Polivka), and Laboratoire de Cytogénétique (Dr. Tournier-Lasserve), Assistance Publique–Hôpitaux de Paris, Hôpital Lariboisière, Paris; Service d’Ophtalmologie (Dr. Miocque) and Service de Neuropathologie (Dr. Chapon), Centre Hospitalier Universitaire de Caen; Unité de Neuropédiatrie (Dr. Goutières), Assistance Publique–Hôpitaux de Paris, Hôpital des Enfants Malades, Paris; Service de Neurologie (Dr. Dress), Centre Hospitalier Mémorial de Saint-Lô; Service de Neuropathologie (Dr. Ruchoux), Centre Hospitalier Universitaire de Lille; and INSERM EMI 99-21 (Drs. Riant, Joutel, Bousser, and Tournier-Lasserve), Faculté de Médecine Lariboisière, Paris, France.

Address correspondence and reprint requests to Dr. Katayoun Vahedi, Service de Neurologie, Assistance Publique–Hôpitaux de Paris, Hôpital Lariboisière, 2 rue A. Paré, 75010 Paris, France; e-mail: katayoun.vahedi{at}lrb.ap-hop-paris.fr

Background: The main hereditary vascular conditions involving both retinal and cerebral vessels include cerebroretinal vasculopathy, HERNS (hereditary endotheliopathy with retinopathy, nephropathy, and stroke), and hereditary vascular retinopathy; all are linked to the same locus on chromosome 3p21. Hereditary retinal arteriolar tortuosity is a distinct, autosomal dominant condition characterized by retinal arteriolar tortuosity and recurrent retinal hemorrhages. This condition is known to affect only retinal vessels.

Methods: Clinical and brain MRI investigations of eight members of a three-generation family and extensive biological and systemic vascular investigations within one affected family member were conducted.

Results: Six of eight family members were clinically symptomatic; disorders included infantile hemiparesis (2), migraine with aura (3), and retinal hemorrhage (1). Five individuals had retinal arteriolar tortuosities. A diffuse leukoencephalopathy in association with dilated perivascular spaces was observed in six individuals. Two family members had silent, deep cerebral infarcts as demonstrated on MRI. Genetic linkage analysis strongly suggests that this disorder is not linked to the 3p21 hereditary vascular retinopathy/cerebroretinal vasculopathy/HERNS locus.

Conclusions: The authors describe a novel hereditary autosomal dominant condition affecting both retinal and cerebral vessels and characterized by infantile hemiparesis, migraine with aura, retinal hemorrhage, retinal arterial tortuosity, and leukoencephalopathy with dilatation of perivascular spaces and microbleeds on brain MRI. Investigation of additional families should help to map the gene and to better categorize the spectrum of hereditary cerebroretinal small vessel diseases.




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