A 33-Year-Old Woman With Rigidity and Stereotypies

James Robert Brasic, MD, MPH

Disclosures

April 25, 2017

Editor's Note:
The Case Challenge series includes difficult-to-diagnose conditions, some of which are not frequently encountered by most clinicians but are nonetheless important to accurately recognize. Test your diagnostic and treatment skills using the following patient scenario and corresponding questions. If you have a case that you would like to suggest for a future Case Challenge, please contact us.

Background

A 33-year-old woman is seen with her caregivers for a routine clinic visit and to refill her medications. Presently, she lives with her parents, who are her primary caregivers and on whom she is completely dependent. She has profound intellectual impairment and is thought to have the mental capacity of an 18-month-old child. No other family members are affected.

According to her parents, her birth history was unremarkable. Phenotypically normal, the patient developed and grew appropriately her first year of life. However, as a toddler, she began to lose previously acquired skills (developmental regression) and failed to attain further developmental milestones. She did not learn to talk and was diagnosed with profound intellectual disability. She received special education services to assist her with adaptive functioning.

In early childhood, she was diagnosed with a seizure disorder, which has been medically treated with the anticonvulsants carbamazepine and valproic acid. She has a history of orthopedic concerns. Skeletal abnormalities of note include a history of marked scoliosis and a left-sided coxa valga, which was treated by a lift in her left shoe. To treat her scoliosis, rods were placed in lateral position along her spine.

The patient lives with her parents, who observe her closely 24 hours a day. She can walk by herself, with an ataxic, rigid gait. She must be constantly observed in order to be directed verbally and physically to the appropriate path. She cannot go to unfamiliar places without supervision from a responsible adult. She is also able to feed herself and has been trained to cut food into smaller pieces and use utensils.

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