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Journal of Child Neurology
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Etiology and Pathophysiology of Autistic Behavior: Clues From Two Cases With an Unusual Variant of Neuroaxonal Dystrophy

Karen M. Weidenheim, MD

Department of Pathology, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York, weidenhe{at}aecom.yu.edu., Department of Neurology, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York

Linda Goodman, MD, PhD

Department of Pathology, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York

Dennis W. Dickson, MD

Department of Pathology, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York, Department of Neurology, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York

Christopher Gillberg, MD

Department of Child and Adolescent Psychiatry, University of Göteborg, Göteborg, Sweden

Maria Rästam, MD

Department of Child and Adolescent Psychiatry, University of Göteborg, Göteborg, Sweden

Isabelle Rapin, MD

Department of Neurology, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York

Two unrelated individuals with autistic behavior had numerous swollen axon terminals (spheroids) located in specific brain regions relevant to their behavioral symptoms. Spheroids are characteristic of neuroaxonal dystrophy, but the clinical profile and anatomic distribution of the lesions in these two patients differed from those of previously described patients with neuroaxonal dystrophy. Spheroids were numerous in the sensory nuclei of the spinal cord and medulla, specific nuclei and the reticular formation of the brainstem tegmentum, hypothalamus, anterior and dorsomedial thalamus, hippocampus, and cingulate and orbitofrontal cortices. Spheroids were sparse in the primary and association cortices and basal ganglia and absent in the hemispheric white matter. Cerebellar atrophy was present in both cases but associated with spheroids in only one case. These cases represent a new variant of neuroaxonal dystrophy in which behavioral symptoms characteristic of autism dominated the clinical picture. Neuroaxonal dystrophy should be included in the list of diseases that may be found in persons with autism. (J Child Neurol 2001;16:809—819).

Journal of Child Neurology, Vol. 16, No. 11, 809-819 (2001)
DOI: 10.1177/08830738010160110601
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