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 3rd time myeloperoxidase activity was normal. On 2 separate occasions the serum lecithin fatty acid pattern was abnormal and closely resembled the characteristic pattern of polyunsaturated fatty acid lipidosis. The .tau. fraction was measured once and was normal as was head circumference. 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. This case is regarded as generalized ceroidlipofuscinosis of infantile onset with an abnormal serum lecithin fatty acid composition. The infantile form, in the same manner and to the same extent as the late infantile and juvenile forms, may not constitute an entirely homogeneous group within the ceroidlipofuscinoses.