Follow-Up Study of a Case of Generalized Ceroidlipofuscinosis of Childhood with Special Reference to the Finding of an Abnormal Serum Lecithin Fatty Acid Pattern

Abstract

In quest of a more precise and stringent diagnosis for a case of generalized ceroidlipofuscinosis the patient was reexamined and additional laboratory tests were performed. For the third time myeloperoxidase activity was normal. On two separate occasions the serum lecithin fatty acid pattern was found to be abnormal and to resemble closely the pattern reported to be characteristic of polyunsaturated fatty acid lipidosis. The tau fraction was measured on one occasion and found to be normally present. Head circumference was confirmed to be normal. Pigmentary retinal changes were observed by fundoscopic examination. The child had prominent epileptic activity in form of myoclonic jerks. The case does not fit exactly into the picture reported recently for children with polyunsaturated fatty acid lipidosis. Doubt is voiced that these children have other than an infantile type of generalized ceroidlipofuscinosis. Thus, for the time being we regard ours as a case of generalized ceroidlipofuscinosis of infantile onset with an abnormal serum lecithin fatty acid composition. Furthermore, it seems to us that the infantile form, in the same manner and to the same extent as the late infantile and juvenile forms, does not constitute an entirely homogeneous group within the ceroidlipofuscinoses.