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Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome

      Abstract

      Wolf-Hirschhorn syndrome (WHS) is a well-characterized chromosomal disorder that occurs due to partial deletion of the short arm of chromosome 4 (4p-). Although, about 300 cases have been reported to date, limited data are available on electroclinical findings. Information given to parents at the time of diagnosis tends to be skewed to the extreme negative. To delineate the natural history of seizures and EEG patterns in WHS, and obtain better information on diagnosis or outcome in a clinical setting, we reviewed the available literature on electroclinical findings of WHS. 4p- syndrome is characterized by distinctive seizure and EEG patterns that facilitate the early diagnosis and management of such patients.

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      References

        • Cooper H.
        • Hirschhorn K.
        Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion.
        Mamm Chrom Newslett. 1961; 4: 14
        • Lurie I.W.
        • Lazjuk G.L.
        • Ussova I.
        • Presman E.B.
        • Gurevich D.B.
        The Wolf-Hirschhorn syndrome I. Genetics.
        Clin Genet. 1980; 17: 375-384
        • Tupler R.
        • Bortotto L.
        • Buhler E.M.
        • Akan M.
        • Malik N.J.
        • Busch-Al Jadooa N.
        • et al.
        Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.
        J Med Genet. 1992; 29: 53-55
        • Dallapiccola B.
        • Mandich P.
        • Bellone E.
        • Selicorni A.
        • Mokin V.
        • Ajmar F.
        • et al.
        Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.
        Am J Med Genet. 1993; 47: 921-924
        • Wolf U.
        • Reinwein H.
        • Porsh R.
        • Schroter R.
        Baitsch Defizienz am den kurze Armen eines Chromosomes nr. 4.
        Humangenetik. 1965; 1: 397-413
        • Hirschhorn K.
        • Cooper H.
        • Firschein I.L.
        Deletion of short arms of chromosome 4–5 in a child with defects of midline fusion.
        Humangenetik. 1965; 1: 479-482
        • Gorlin R.J.
        • Cohen M.M.
        • Levin L.S.
        Syndromes of the head and neck.
        Oxford University Press, New York1990 (p. 46–8)
        • Battaglia A.
        • Carey J.C.
        • Wright T.J.
        Wolf-Hirschhorn (4p-) syndrome.
        Adv Pediatr. 2001; 48: 75-113
        • Arias D.
        • Passarge E.
        • Engle M.A.
        • German J.
        Human chromosomal deletion: two patients with the 4p- syndrome.
        J Pediatr. 1970; 76: 82-88
        • Miller O.J.
        • Breg W.R.
        • Warburton D.
        • Miller D.A.
        • deCapoa A.
        • Allderdice P.W.
        • et al.
        Partial deletion of the short arm of chromosome no. 4(4p-): clinical studies in five unrelated patients.
        J Pediatr. 1970; 77: 792-801
        • Guthrie R.D.
        • Aase J.M.
        • Asper A.C.
        • Smith D.
        The 4p- syndrome.
        Am J Dis Child. 1971; 122: 421-425
        • Centerwall W.R.
        • Thompson W.P.
        • Allen I.E.
        • Fobes C.D.
        Translocation 4p- syndrome.
        Am J Dis Child. 1975; 129: 366-370
        • Wilcox L.M.
        • Bercovitch L.
        Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn).
        Am J Ophthalmol. 1978; 86: 834-839
        • De Grouchy J.
        • Turleau C.
        Clinical atlas of human chromosomes.
        2nd ed. Wiley, New York1984
        • Stengel-Rutkowski S.
        • Warkotsch A.
        • Schimanek P.
        • Stene J.
        Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates.
        Clin Genet. 1984; 25: 500-521
        • Reid I.
        • Morrison N.
        • Barron L.
        • Boyd E.
        • Cooke A.
        • Fielding D.
        • et al.
        Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.
        J Med Genet. 1996; 33: 197-202
        • Kanazawa O.
        • Irie N.
        • Kawai I.
        Epileptic seizures in the 4p- syndrome: report of two cases.
        Jpn J Psychiatry Neurol. 1991; 45: 653-659
        • Fryns J.P.
        • Francois B.
        • Timmermans J.
        The Wolf-Hirschhorn syndrome: deletion of the short arm of chromosome 4.
        Acta Paediatr Belg. 1979; 32: 135-139
        • Fryns J.P.
        • de Muelenaere A.
        • Van den Berghe H.
        The 4p- syndrome in a 24-year-old female.
        Ann Genet. 1981; 24: 110-111
        • Opitz J.M.
        Twenty-seven-year follow-up in the Wolf-Hirschhorn syndrome.
        Am J Med Genet. 1995; 55: 459-461
        • Wheeler P.G.
        • Weaver D.D.
        • Palmer C.G.
        Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome.
        Am J Med Genet. 1995; 55: 462-465
        • Wilson M.G.
        • Towner J.W.
        • Coffin G.S.
        • Ebbin A.J.
        • Siris E.
        • Brager P.
        Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)].
        Hum Genet. 1981; 59: 297-307
        • Estabrooks L.L.
        • Lamb A.N.
        • Aylsworth A.S.
        • Callanan N.P.
        • Rao K.W.
        Molecular characterization of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome.
        J Med Genet. 1994; 31: 103-107
        • Clemens M.
        • Martsolf J.T.
        • Rogers J.G.
        • Mowery-Rushton P.
        • Surti U.
        • McPherson E.
        Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.
        Am J Med Genet. 1996; 66: 95-100
        • Fang Y.Y.
        • Bain S.
        • Haan E.A.
        • Eyre H.J.
        • MacDonald M.
        • Wright J.T.
        • et al.
        High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome.
        Am J Med Genet. 1997; 71: 453-457
        • Ogle R.
        • Sillence D.O.
        • Merrick A.
        • Ell J.
        • Lo B.
        • Robson L.
        • et al.
        The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome.
        Am J Med Genet. 1996; 65: 124-127
        • Battaglia A.
        Sindrome di Wolf-Hirschhorn (4p-): una causa di ritardo mentale grave di difficile diagnosis.
        Riv Ital Pediatr (IJP). 1997; 23: 254-259
        • Battaglia A.
        • Carey J.C.
        • Cederholm P.
        • Viskochil D.H.
        • Brothman A.R.
        • Galasso C.
        Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases.
        Pediatrics. 1999; 103: 830-836
        • Battaglia A.
        • Carey J.C.
        • Cederholm P.
        • Viskochil D.H.
        • Brothman A.R.
        • Galasso C.
        Storia naturale della sindrome di Wolf-Hirschhorn: esperienza con 15 casi.
        Pediatrics edizione italiana (Milano). 1999; 11: 236-242
        • Battaglia A.
        • Carey J.C.
        Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome.
        Am J Med Genet (Semin Med Genet). 1999; 89: 111-115
        • Battaglia A.
        • Carey J.C.
        Update on the clinical features and natural history of Wolf-Hirschhorn syndrome (WHS): experience with 48 cases.
        Am J Hum Genet. 2000; 6: 127
        • Sgrò V.
        • Riva E.
        • Canevini M.P.
        • Colamaria V.
        • Rottoli A.
        • Minotti L.
        • et al.
        4p- syndrome: a chromosomal disorder associated with a particular EEG pattern.
        Epilepsia. 1995; 36: 1206-1214
      1. Battaglia A, Carey JC, Wright TJ. Wolf-Hirschhorn syndrome. In: GeneReviews: genetic disease online reviews at genetests—geneclinics (database online). Copyright, Seattle, WA: University of Washington; 2002. Available at: http.//www.geneclinics.org

        • Zankl A.
        • Addor M.C.
        • Maeder-Ingvar M.
        • Schorderet D.F.
        A characteristic EEG pattern in 4p- syndrome: case report and review of the literature.
        Eur J Pediatr. 2001; 160: 123-127
      2. Battaglia A, Carey JC. Natural history of seizures and EEG patterns in Wolf-Hirschhorn (4p-) syndrome. In preparation.

        • Battaglia A.
        • Carey J.C.
        • Thompson J.A.
        • Filloux F.
        EEG studies in the Wolf-Hirschhorn (4p-) syndrome.
        Electroencephalogr Clin Neurophysiol. 1996; 99: 324
        • Dravet Ch.
        • Bureau M.
        • Oguni H.
        • Fukuyama Y.
        • Cokar O.
        Severe myoclonic epilepsy in infancy (Dravet syndrome).
        in: Roger J. Bureau M. Dravet Ch. Genton P. Tassinari C.A. Wolf P. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. John Libbey, Eastleigh2002: 81-103
        • Dalla Bernardina B.
        • Fontana E.
        • Darra F.
        Myoclonic status in non-progressive encephalopathies.
        in: Roger J. Bureau M. Dravet Ch. Genton P. Tassinari C.A. Wolf P. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. John Libbey, Eastleigh2002: 137-144
        • Guerrini R.
        • Gobbi G.
        • Genton P.
        • Bonanni P.
        • Carrozzo R.
        Chromosomal abnormalities.
        in: Engel Jr, J. Pedley T.A. Epilepsy: a comprehensive textbook. Lippincott-Raven, Philadelphia, PA1997: 2533-2546
        • Boyd S.G.
        • Harden A.
        • Patton M.A.
        The EEG in early diagnosis of the Angelman (happy puppet) syndrome.
        Eur J Pediatr. 1988; 147: 508-513
        • Guerrini R.
        • De Lorey T.M.
        • Bonanni P.
        • Moncla A.
        • Dravet Ch.
        • Suisse G.
        • et al.
        Cortical myoclonus in Angelman syndrome.
        Ann Neurol. 1996; 40: 39-48
        • Buckle V.J.
        • Fujita N.
        • Ryder-Cook A.S.
        • Derry J.M.
        • Barnard P.J.
        • Lebo R.V.
        • et al.
        Chromosomal localization of GABA(A) receptor beta-a-3-subunit gene.
        Neuron. 1989; 3: 647-654
        • Endele S.
        • Fuhry M.
        • Pak S.J.
        • Zabel B.U.
        • Winterpacht A.
        LETM1, a novel gene encoding a putative EF-Hand Ca-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.
        Genomics. 1999; 60: 218-225
        • Zollino M.
        • Lecce R.
        • Fischetto R.
        • Murdolo M.
        • Faravelli F.
        • Selicorni A.
        • et al.
        Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.
        Am J Hum Genet. 2003; 72: 590-597