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Down Syndrome Abstract
of the Month: Feb 2005

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New onset focal weakness in children with Down syndrome

Worley G, Shbarou R, Heffner AN, Belsito KM, Capone GT, Kishnani PS
Am J Med Genet A. 2004 Jul 1;128(1):15-8

Department of Pediatrics, Program in Neurodevelopmental Pediatrics, Duke University Medical Center, Durham, NC, USA

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New onset focal weakness is relatively common in patients with Down syndrome (DS), and has broad differential diagnosis. Ten cases of new onset focal weakness in patients with DS were encountered or are currently being followed in two DS clinics, with a combined population of patients of approximately 850, for a clinic population prevalence of 1.2%. The median age at presentation was 4 years old (range 1 month - 44 years). The causes of new onset focal weakness were: stroke from Moyamoya disease (two patients); stroke from vaso-occlusive disease (one patient); stroke from venus sinus thrombosis (one patient); traumatic subdural hematoma (one patient); brain abscess (one patient); spinal cord injury (SCI) from cervical spinal stenosis (two patients); SCI from atlantoaxial instability (AAI) (one patient); and brachial plexus injury (one patient). Of the 10 patients with focal weakness, 8 had potentially treatable conditions, and 5 had surgery. The differential diagnosis of new onset focal weakness in DS is broad, with diseases reported involving all levels of the nervous system from brain to muscle. For some diagnoses, expeditious diagnosis may improve outcome.

My comments:

The cause of weakness in an arm, a leg, or a full half of the body varies dependent upon age. The youngest child in this group, a one month old baby, was born with a birth injury to the nerve bundle in the armpit ("brachial plexus") and is not an associated condition with DS. Another child's weakness was due to an accident involving an injury to the head. Of the other causes, the two most associated with DS are atlanto-axial instability and Moyamoya disease.

Moyamoya disease is the slow narrowing of certain arteries of the brain, which finally results in a stroke. The stroke shows up as weakness of an arm or leg, or even of one entire half of the body. It is not uncommon for there to be intermittent weakness of an arm at the beginning. Sometimes there are changes in vision in one eye, trouble swallowing or difficulty in talking. The name Moyamoya comes from the Japanese phrase "puff of smoke," referring to the way the brain angiogram appears in people with this condition, and the angiogram is the best way currently to make the diagnosis. Moyamoya is more common in people with DS than in the general population, and is most common in the first and fourth decades of life. Children and adults with DS that have either sudden or progressive weakness should seak out a neurologist as soon as possible. For more information, see Moyamoya.com.

Additional reference: Moyamoya and Down syndrome. Cramer SC et al. Stroke 27(11): 2131-2135, Nov 1996.

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