• Citer

Metachromatic leukodystrophy: Ultrastructural study of the eyes and diagnosis by conjunctival biopsy and enzyme analysis in tears

par Libert, Jacques ;Van Hoof, François;Aubert-Tulkens, Genevieve;Danis, Pierre
Référence Metabolic, pediatric and systemic ophthalmology, 3, 2-4, page (217-218)
Publication Publié, 1979

Article révisé par les pairs

• Détails
• Contenu

Résumé :

The eyes of two patients were examined by electron microscopy. The first one was affected with the infantile phenotype of metachromatic leukodystrophy, the second one with the late infantile phenotype. In both cases, the lesions were important in the optic nerve and the ciliary nerves. In the younger child, the ganglion cells of the retina and the ciliary epithelial cells were also involved, whereas these structures were normal in the older patient. Four children, affected with infantile metachromatic leukodystrophy, were examined by conjunctival biopsy. Typical lesions of the sensitive nerves were obvious and allowed the diagnosis of the disease. Two cases, affected with mucosulfatidosis, were also studied; they presented, aside from the nervous lesions, the storage of MPS-like material in the epithelial cells and the fibroblasts of the conjunctiva. The tear enzymes were assayed in most of these cases and confirmed the histopathological diagnosis by the demonstration of a deficiency of arylsulfatase A or arylsulfatase A and B, respectively in classical MLD and in mucosulfatidosis. These ultrastructural studies confirm that myelin is principally affected in sulfatidoses, and that conjunctival biopsy and enzyme analysis in tears provide an easy method for the screening of these disorders.