Cytosome Morphology and Distribution of Generalized Ceroidlipofuscinosis in a Twenty-Eight Month Old Boy with Normal Myeloperoxidase Activity

Abstract

A brain biopsy obtained from a twenty-eight month old boy with ceroidlipofuscinosis was studied by light and electron microscopy. There were widespread intracellular deposits of autofluorescent material taking the fat stains. Cytoplasmic inclusions were plentiful in neurons, astrocytes, oligocytes, M cells and vascular elements. Their substructure ranged from that of variably dense aggregates of essentially homogeneous or granular appearance to that of miscellaneous collections of lamellar pairs and/or tubular structures of variable length. Stacks of 2 to 4 linear profiles with a curved outline were rarely seen and then almost exclusively inside cytosomes of endothelial cells. Similar observations were made in peripheral nerve, skin and liver biopsies. The granules of peripheral blood neutrophilic leukocytes were unremarkable. A small percentage of lymphocytes contained granular cytoplasmic bodies not unlike those known to be an ordinary feature of some lymphocytes of the average blood sample. However, a certain resemblance between these bodies and some of the cytosomes seen in the patient's tissues was also apparent. Myeloperoxidase activity was tested with paraphenylenediamine and was found to be normal on two occasions. The patient's age, cytosome morphology and distribution and results of peroxidase assay add special interest to this case of generalized ceroidlipofuscinosis. However, none of these features, either singly or in combination, warrants creation of a distinct subtype within this group of disorders. Myeloperoxidase deficiency is probably just another phenotypical marker of some patients with generalized ceroidlipofuscinosis rather than the genetic defect of Batten disease.

Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.

“…Our present study fully confirms our previous reports and similar papers on isolated cases (Dolman and Chang, 1972;Carpenter et al, 1973;Rapola and Haltia, 1973;Anzil et al, 1975;Arsenio-Nunes and Goutieres, 1975;de Baecque et al, 1976;Farrell and Sumi, 1977) or on series of cases (Carpenter et al, 1972(Carpenter et al, , 1977Dolman et al, 1975). Inclusions similar to the ones found in the nervous system and visceral organs of patients respectively affected by the infantile or late infantile ceroid-lipofuscinosis are discovered in nearly all cell types of the skin.…”

Ovine Ceroid‐lipofuscinosis: A Model of Batten's Disease

“…Similar material is stored in a wide variety of other ovine tissues indicating a generalized metabolic disturbance, and in this it resembles the canine form. Although emphasis has been placed on the neurological consequences of the human syndromes, there is growing awareness of widespread visceral involvement in this species too (Kristensson et al, 1965;Dolman et d., 1972;de Baecque et al, 1976) and following the suggestion of Joosten et al (1973) the alternative name 'generalized ceroid-lipofuscinosis' has been used by some (Anzil et al, 1975;Schuurmans Stekhoven et al, 1976;Schwendemann, 1976).…”

The Diagnosis of Infantile Generalized Ceroid-Lipofuscinosis (Type Hagberg-Santavuori) Using Skin Biopsy

“…Among the possible sites for a biopsy, brain or appendix have been used (Haltia et al 1973a, Rapola and Haltia 1973). Skin biopsy has been performed with positive results in one case at the age of 28 months, but a brain biopsy was also carried out at the same time (Anzil et al 1975). In a second case, a positive skin biopsy was obtained a t the age of 3'12 years, six months after an appendix biopsy (ArsCnio-Nunes and Gouti2res 1975).…”