Advertisement

Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis

      Abstract

      The objective of this study was to present clinical and electroencephalographic findings in 18 cases with late infantile neuronal ceroid lipofuscinoses, focusing on features that assist early diagnosis. Clinical and EEG findings have been described in the past for classic types, but several variants have recently been reported. The authors reviewed the clinical and EEG findings of 18 childhood onset neuronal ceroid lipofuscinoses cases. In the late infantile neuronal ceroid lipofuscinoses type, both typical and variant cases have been observed. In this type, the presence of a particular pseudoperiodic EEG pattern that we found in 15/18 patients and observed in the first stages of the disease could be useful in early diagnosis, especially if associated with the absence of sleep spindles. A precise nosological classification, based both on clinical and instrumental findings is the prerequisite for a correct genotype–phenotype correlation that could greatly improve our knowledge of this disease, providing a better understanding of pathogenesis and increasing our ability to treat it.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Brain and Development
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Dyken P.R.
        The neuronal ceroid-lipofuscinoses.
        J Child Neurol. 1989; 4: 165-174
        • Goebel H.H.
        The neuronal ceroid-lipofuscinoses.
        J Child Neurol. 1995; 10: 424-437
        • Kohlschütter A.
        • Gardiner R.M.
        • Goebel H.H.
        Human forms of neuronal ceroidlipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992.
        J Inherit Metab Dis. 1993; 16: 241-244
      1. Proceedings of the 4th International Symposium on the Neuronal Ceroid-lipofuscinoses (Batten disease). J Inherit Metab Dis 1993;16:225-352.

      2. Proceedings of the 6th International Congress on Neuronal Ceroid Lipofuscinoses, Gustavlund, Finland, 8–11 June 1996. Neuropediatrics 1997;28:3-82.

        • Järvelä I.
        • Vesa J.
        • Santavuori P.
        • Hellsten E.
        • Peltonen L.
        Molecular genetics of neuronal ceroidlipofuscinoses.
        Pediatr Res. 1992; 32: 645-648
        • Bate L.
        • Gardiner M.
        Genetics of inherited epilepsies.
        Epileptic Disord. 1999; 1: 7-19
        • Mole S.
        • Gardiner M.
        Molecular genetics of the neuronal ceroid lipofuscinoses.
        Epilepsia. 1999; 40: 29-32
        • Mole S.E.
        • Mitchison H.M.
        • Munroe P.B.
        Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
        Hum Mutat. 1999; 14: 199-215
        • Vesa J.
        • Hellsten E.
        • Verkruyse L.A.
        • Camp L.A.
        • Rapola J.
        • Santavuori P.
        Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroidlipofuscinosis.
        Nature. 1995; 376: 584-587
        • Santavuori P.
        • Vanhanen S.L.
        • Sainio K.
        • Niemiwen M.
        • Walden T.
        • Launess J.
        Infantile neuronal ceroid-lipofuscinosis (INCL): diagnostic criteria.
        J Inherit Metab Dis. 1993; 16: 225-229
        • Santavuori P.
        • Rapola J.
        • Raininko R.
        • Autti T.
        • Lappi M.
        • Nuntila A.
        Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky–Bielschowsky disease: diagnostic criteria and nomenclature.
        J Inherit Metab Dis. 1993; 16: 230-232
        • Sharp J.D.
        • Wheeler R.B.
        • Lake B.D.
        • Savukoski M.
        • Jarvela I.E.
        • Peltonen L.
        Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21–23.
        Hum Mol Genet. 1997; 6: 591-595
        • Nardocci N.
        • Verga M.L.
        • Binelli S.
        • Zorzi G.
        • Angelini L.
        • Bugiani O.
        Neuronal ceroid-lipofuscinosis: a clinical and morphological study of 19 patients.
        Am J Med Genet. 1995; 57: 137-141
        • Vanhanen S.L.
        • Raininko R.
        • Santavuori P.
        • Autti T.
        • Haltia M.
        MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 1: Postmortem MRI with histopathologic correlation.
        J Child Neurol. 1995; 10: 438-443
        • Vanhanen S.L.
        • Raininko R.
        • Autti T.
        • Santavuori P.
        MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients.
        J Child Neurol. 1995; 10: 444-450
        • Autti T.
        • Raininko R.
        • Vanhanen S.L.
        • Santavuori P.
        MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 39 patients with juvenile neuronal ceroid lipofuscinosis.
        Neuroradiology. 1996; 38: 476-482
        • Autti T.
        • Raininko R.
        • Santavuori P.
        • Vanhanen S.L.
        • Poutanen V.P.
        • Haltia M.
        MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type.
        Neuroradiology. 1997; 39: 371-377
        • Aicardi J.
        • Plouin P.
        • Goutiéres F.
        Ceroid-lipofuscinoses.
        Rev EEG Neurophysiol. 1978; 8: 149-159
        • Boyd S.G.
        • Harden A.
        Clinical neurophysiology of the central nervous system.
        in: Brett E.M. Pediatric neurology. Churchill Livingstone, Edinburgh1991: 717-795
        • Pampiglione G.
        • Harden A.
        So-called neuronal ceroid lipofuscinosis. Neurophysiological studies in 60 children.
        J Neurol Neurosurg Psychiatry. 1977; 40: 323-330
        • Sainio K.
        Neurophysiological findings in neuronal ceroid lipofuscinoses.
        Neuropediatrics. 1997; 28: 70
        • Williams R.E.
        • Boyd S.
        • Lake B.D.
        • Wilson J.
        Electrophysiological features of early-juvenile Batten's disease.
        Europ J Paediatr Neurol. 1997; 1: A29
        • Santavuori P.
        • Raininko R.
        • Vanhanen S.L.
        • Launes J.
        • Sainio K.
        MRI of the brain. EEG sleep spindles and SPECT in the early diagnosis of infantile neuronal ceroid lipofuscinosis.
        Dev Med Child Neurol. 1992; 34: 61-79
        • Vanhanen S.L.
        • Sainio K.
        • Lappi M.
        • Santavuori P.
        EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis.
        Dev Med Child Neurol. 1997; 39: 456-463