Electron Microscopy of Skin and Peripheral Blood Lymphocytes in Infantile (Santavuori) Neuronal Ceroid Lipofuscinosis

Abstract

Skin punch biopsies and peripheral blood lymphocyte preparations from two siblings with early infantile (Santavuori) neuronal ceroid lipofuscinosis have been examined by electron microscopy. In both cases characteristic osmiophilic inclusion bodies were found in various cells in the skin and in lymphocytes. In one case, lymphocyte inclusions were detected before the onset of any symptoms as a result of a family study. This indicates the possibility of screening lymphocytes of siblings of affected patients as a result of a family study. This indicates the possibility of screening lymphocytes of siblings of affected patients with a view to early detection of the disorder.

Normal dolichol concentration in urine sediments from four patients with neuronal ceroid lipofuscinosis (Batten's disease)

“…Diagnosis of the patients was based on case notes supplied by their clinicians and was confirmed by electron micrographic examination of skin and/or rectal biopsies supplied to the Adelaide Children's Hospital. Case notes for the patient with infantile NCL have been published (Haynes et al, 1979).…”

Neuronal ceroid-lipofuscinoses

“…The cortical neuronal loss is accompanied by gliosis and macrophage accumulation. The cells in the brain, retina, skin, rectum, and the peripheral blood lymphocytes show GRODs on ultrastructual examination [39,[65][66][67][68][69][70][71][72]. CLN1 (the traditional Infantile Neuronal Ceroid-Lipofuscinosis, INCL, Santavuori-Haltia disease), caused by a deficiency of the soluble lysosomal enzyme, palmitoyl-protein thioesterase 1 (PPT1), that cleaves the palmitate moiety from cysteine residues of S-palmitolyated proteins, classically presents in this manner [4,5].…”