To the Editor.—
We read with interest the article by Markesbery et al in the September issue of the Archives. We believe these authors' studies confirm our initial reports of the contribution to the diagnosis of the neuronal ceroid-lipofuscinosis by electron microscopical study of lymphocytes in patients with clinical manifestation of the disease.We have demonstrated a variety of cytoplasmic inclusions in lymphocytes from nine patients with various forms of ceroid-lipofuscinosis.1 Their article failed to mention that we found diagnostic inclusions in two children with the infantile or Finnish form of this disorder.We believe that an electron microscopical examination of skin biopsy specimens and/or lymphocytes in patients with the clinical manifestations of one of these diseases is a reliable and acceptable method of diagnosis.
MacLeod PM, Dolman CL. Neuronal Ceroid-Lipofuscinosis. Arch Neurol. 1977;34(3):199. doi:10.1001/archneur.1977.00500150085018
Artificial Intelligence Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.