Abstract
A unique patient with Down syndrome who developed reflex seizures is described. The patient has had recurrent intermittent seizures for the past 3.5 years. These seizures were usually precipitated by auditory stimuli such as sudden loud noises. While having seizures the patient experienced severe discomfort in the posterior neck area. The seizures usually lasted 10–20 s, and there was no aura, nor was there a postictal phase. Of the numerous investigations performed, closed-circuit electroencephalogram video telemetry was most helpful in arriving at an accurate diagnosis. Carbamazepine administration resulted in total seizure control and reflex stimuli no longer provoke seizure activity. Although it has been suggested that reflex seizures may be due to genetic factors or structural central nervous system defects, we were unable to uncover the cause of the reflex seizures in our patient.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Alajouanine A, Gastaut H (1955) La syncinésie-sursaut et l'épilepsie-sursaut à déclanchement sensoriel ou sensitif inopiné. Rev Neurol (Paris) 93: 20–41
Andermann F, Keene DL, Andermann E, Quesney LF (1980) Startle disease or hyperekplexia: further delineation of the syndrome. Brain 103: 985–997
Ellingson RJ, Eisen JD, Ottersberg G (1973) Clinical and electroencephalographic observations on institutionalized mongoloids confirmed by karyotype. Electroencephalogr Clin Neurophysiol 34: 193–196
Gastaut H, Tassinari CA (1966) Triggering mechanisms in epilepsy. The electroclinical point of view. Epilepsia 7: 85–138
Gastaut H, Villeneuve A (1967) The startle disease or hyperekplexia: pathological surprise reaction. Neurol Sci 5: 523–542
Giménez-Roldán S, Martín M (1980) Startle epilepsy complicating Down syndrome during adulthood. Ann Neurol 7: 78–80
Guerrini R, Genton P, Bureau M, Dravet C, Roger J (1990) Reflex seizures are frequent in patients with Down syndrome and epilepsy. Epilepsia 31: 406–415
Illingworth RS (1959) Convulsions in mentally retarded children with or without cerebral palsy. J Ment Defic Res 3: 88–93
Kirman BH (1951) Epilepsy in mongolism. Arch Dis Child 26: 501–503
Le Berre C, Jorunel H, Lucas J, Le Mee F, Betremieux P, Roussey M, Le Marec B (1986) L'epilepsie chez le trisomique 21. Ann Pediatr (Paris) 33: 579–585
Loesch-Mdzewska D (1968) Some aspects of the neurology of Down's syndrome. J Ment Defic Res 12: 237–246
Moore BC (1973) Some characteristics of institutionalized mongols. J Ment Defic Res 17: 46–51
Paulson GW, Son CD, Nance WE (1969) Neurologic aspects of typical and atypical Down's syndrome. Dis Nerv Syst 30: 632–636
Penrose LS (1963) The biology of mental defect, 3rd edn. Sidgwick and Jackson, London
Pueschel SM, Louis S, McKnight P (1991) Seizure disorders in Down syndrome. Arch Neurol 84: 318–320
Sáenz-Lope E, Herranz FJ, Masden JC (1984) Startle epilepsy: a clinical study. Ann Neurol 16: 78–81
Servit Z, Machek J, Stercova A (1962) Reflex influences in the pathogenesis of epilepsy in the light of clinical statistics. Epilepsia 3: 315–322
Tangye SR (1979) The EEG and incidence of epilepsy in Down's syndrome. J Ment Defic Res 23: 17–24
Tatsuno M, Hayashi M, Iwamoto H, Suzuki Y, Kuroki Y, (1984) Epilepsy in childhood Down syndrome. Brain Dev 6: 37–44
Veall RM (1974) The prevalence of epilepsy among mongols related to age. J Ment Defic Res 18: 99–106
Walter RD, Yeager CL, Rubin HK (1955) Mongolism and convulsive seizures. Arch Neurol Psychiatry 74: 559–567
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Pueschel, S.M., Louis, S. Reflex seizures in Down syndrome. Child's Nerv Syst 9, 23–24 (1993). https://doi.org/10.1007/BF00301930
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00301930