Abstract
The case of a 6-year-old boy who developed childhood disintegrative disorder (Heller syndrome) at the age of 4 years is presented, and specifics of the neurologic evaluation are detailed. A table is provided suggesting the complete neurologic work-up with the potential findings for children presenting with signs and symptoms of deterioration. A hypothesis for the aetiology of Heller syndrome proposes that predisposing genetic factors when combined with an environmental stress result in the deposition of amyloid and the disruption of synaptic transmission during the deterioration period. Speculation that the deterioration may be self-limited by activation of an immune response is based upon earlier findings that interleukin 1 has been shown to be involved in the breakdown of amyloid precursor protein in humans.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Abravaya K, Myers MP, Murphy SP (1992) The human heat shock protein hsp70 interacts with HSF, the transcription factor that regulates heat shock gene expression. Genes Developement 6:1153–1164
Ahlsén G, Rosengren L, Belfrage M, Palm A, Haglid K, Hamberger A, Gillberg C (1993) Glial Fibrillary Acidic protein in the cerebrospinal fluid of children with autism and other neuropsychiatric disorders. Biological Psychiatry 33:734–743
American Psychiatric Association (1987) Diagnostic and Statistical Manual of Mental Disorders. APA, Washington DC
Beyreuther K, Bush AI, Dyrks T, Hilbich C, Konig G, Morning U, Multhaup G, Prior R, Rumble B, Schubert W et al (1991) Mechanisms of amyloid deposition in Alzheimer's disease. Annals of the New York Academy of Sciences 640:129–139
Burd L, Fisher W & Kerbeshian J (1989) Pervasive disintegrative disorder: are Rett syndrome and Heller dementia infantilis subtypes? Developmental Medicine and Child Neurology 31:609–616
Burel C, Mezger V, Pinto M et al (1992) Mammalian heat shock protein families: Expression and functions. Experientia 48:629–634
Buxbaum JD, Oishi M, Chen HI et al (1992) Cholinergic agonists and interleukin 1 regulate processing and secretion of the Alzheimer bta/A4 amyloid protein precursor. Proceedings of the National Academy of Science 89:10075–10078
Corbett J, Harris R, Taylor E, & Trimble M (1977) Progressive disintegrative psychosis of childhood. Journal of Child Psychology and Psychiatry 18:211–219
Creak EM (1963) Childhood psychoses: a review of 100 cases. British Journal of Psychiatry 109:84–89
De Sanctis S (1906) Sopra alcune varietà della demenza precoce. Revista Sperimentale di Freniatria e di Medicina Legale delle Alienazioni Mentale 32:141–165
Gillberg C (1992) The Emanuel Miller Memorial Lecture 1991: Autism and autistic-like conditions: subclasses among disorders of empathy. Journal of Child Psychology and Psychiatry 33:813–842
Gillberg C (1995) Clinical Child Neuropsychiatry. Cambridge University Press, Cambridge and New York
Gillberg C, Ehlers S, Schaumann H, Jakobsson G, Dahlgren SO, Lindblom, R Bågenholm, A Tjuus, T, & Blidner E (1990) Autism under age 3 years: a clinical study of 28 cases referred for autistic symptoms in infancy. Journal of Child Psychology and Psychiatry 31:921–934
Heller T (1908) Dementia infantilis. Zeitschrift för die Erforschung und Behandlung des jugendlichen Schwach sinns (Journal for Research and Treatment of Juvenile Feeblemindedness) 2:17–28
Heller T (1930) Über Dementia infantilis. Zeitschrift für Kinderforschung 37:661–667
Kurita H (1988) The concept and nosology of Heller's syndrome: Review of articles and report of two cases. Japanese Journal of Psychiatry and Neurology 42:785–793
Lawrence S, Keats BJ, Morton NE (1992) The ADI locus in familial Alzheimer disease. Annals of Human Genetics 58:295–330
Malamud N (1959) Heller's disease and childhood schizophrenia. American Journal of Psychiatry 116:215–218
Meiner S, Halimi M, Polakiewicz RD, Prusiner SB et al (1992) Presence of prion protein in periferal tissues of Libian jews with Creutzfeldt-Jacob disease. Neurology 42:1355–1360
Prusiner S (1992) Natural and experimental prion diseases of humans and animals. Current Opinion in Neurobiology 5:638–647
Puckett C, Concannon P, Casey C et al (1991) Genomic structure of the human prion protein gen. American Journal of Human Genetics 49:320–329
Rivinius TM, Jamison DL, Graham PJ et al (1975) Childhood organic neurologic disease presenting as a psychiatric disorder. Archives of Disease in Childhood 50:115–119
Rosengren L, Ahlsén G, Belfrage M, Gillberg C, Haglid K, & Hamberger A (1992) A sensitive ELISA for glial fibrillary acidic protein: Application in CSF of children. Journal of Neuroscience Methods 44:113–119
Tamzi RE, Vaula S, Romano DM et al (1992) Assessment of amyloid beta-pro-tein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. American Journal of Human Genetics 51:272–292
Volkmar FR (1992) Childhood disintegrative disorder: Issues for DSM-IV Journal of Autism and Developmental Disorders 22:625–642
Volkmar FR, Cohen, DJ (1989) Disintegrative disorder or “late onset” autism. Journal of Child Psychology and Psyhciatry 30:717–724
Volkmar FR, Nelson DS (1990) Seizure disorders in autism. Journal of the American Academy of Child and Adolescent Psychiatry 29:127–129
WHO (1977) International Classification of Diseases. Ninth Revision. Geneva, Author
WHO (1980) International Classification of Diseases and Disorders (ICD-9). (9th ed). Geneva, Author
WHO (1990) International Classification of Diseases and Disorders (ICD-10). Geneva, Author
WHO (1992) International Classification of Diseases and Disorders (ICD-10). Geneva, Author
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Russo, M., Perry, R., Kolodny, E. et al. Heller syndrome in a pre-school boy. Proposed medical evaluation and hypothesized pathogenesis. European Child & Adolescent Psychiatry 5, 172–177 (1996). https://doi.org/10.1007/BF00571677
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00571677