|Contributed by Ana Rubio, MD, PhD|
Department of Pathology (Neuropathology Unit)
University of Rochester Medical Center, Rochester, NY
The patient is a four year old Caucasian girl with a constitutional ring chromosome 22 abnormality. She was taken to her pediatrician after suffering occasional episodes of morning emesis. At that time the diagnosis of probable viral illness and dehydration was given; but, immediately after, she developed marked lethargy that lasted for a week and then disappeared. During the following month she had occasional neck pain and stiff neck. Six weeks after her initial presentation she became increasingly fatigued and had difficulty maintaining her balance with stumbling and frequent falls. She was taken to her pediatrician again, who noted severe ataxia and ordered imaging studies (see below).
The patient has the phenotypic features and developmental delay characteristic of ring chromosome 22 abnormality 1. She could not sit still until she was one year of age, could not walk until she was three, and was starting to run when she presented with the intracranial mass. She is able to understand simple commands, recognizes her parents, is aware of her environment, but cannot talk.