Behavioral disorder associated with rhombencephalosynapsis

A. P. Verrl, C. Uggettl, M. Ceroni, A. Martelll A Federico

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Rhombencephalosynapsis (RS) is a rare cerebellar malformation: the essential features are the absence of the incisura cerebelli posterior; fusion of the cerebellar hemispheres; absence of the velum medullare anterius and nuclei fastigii and fusion of the dentate nuclei, which are shifted towards the midline. (Schachenmayr, 1982).Clinically, affected patients presented with signs of cerebellar and motor disturbances. We signal a new patient, affected by RS. He first came to the observation at the age of 22 because of the psychiatric symptomatology, characterized by an obsessive-compulsive disorder associated (OCD) with an intellectual disability. The objective evaluation documented dysmorphic features. From the neurological point of view only a slight truncal ataxia was detected. The Id at the Wechsler Scale was 74 (verbal IQ = 79, performance IQ =74). The psychiatric evaluation with DSM IV criteria documented an obsessive-compulsive disorder associated with emotional instability. NMR documented a typical picture of Rhombencephalosynapsis. Chromosomal analysis was normal. We think that this clinical case may contribute to clarify our knowledge related to behavioral aspects of cerebellar congenital pathology in affective disorders (Shah, 1992) and in autism (Hashimoto, 1989). The relationship between OCD and cerebellar malformations is complex. OCD in the mentally retarded, has rarely been reported, however our patient presents only a mild intellectual disability.

Original languageEnglish
Pages (from-to)43
Number of pages1
JournalItalian Journal of Neurological Sciences
Issue number4
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology


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