Tuesday, March 25, 2008

Hemiparkinson-hemiatrophy syndrome

Wijemann S, Jankovic J. Hemiparkinsonism-hemiatrophy syndrome. Neurology 2007; 69: 1585-1594.

Seminal description was made by Klawans in 1981 (Neurology) with hemiatrophy beginning in childhood and hemiParkinsons beginning in early adulthood (before 45). The hemiatrophy may be unnoticed. Symptoms usually begin ipsilateral to the hemiplegia but may spread to the other side. The condition may progress slowly and respond variably to levodopa. This series of 30 patients is the largest to date published. Patients may present initially with dystonia, that is often action induced and may involve the leg or arm only, induced by walking, running, or writing. There was no right or left sided predominance. Patients could present however, with early morning dystonia, tremor, bradykinesia, or gait imbalance. Patients often had scapular winging, raised shoulder , unequal leg length, brisk reflexes and extensor plantars. Occassionally patients had problems in pregnancy or early development especially walking. Scoliosis was common. MRI findings include asymmetric lateral ventricles, volume loss, thalamic or arachnoid cyst. Unilateral changes including calvarial thickening, expansion of the ethmoid, frontal or mastoid sinus, and elevation of the petrous ridge and greater wing of the sphenoid as in the Dyke Davidoff Mason syndrome are reported.

Negative signs and symptoms, that is thsoe infrequently or not seen, include axial signs such as swallowing or speech difficulty or symmetric freezing (although one patient had a relatively unusual sign of unilateral freezing).

The hemiatrophy involved, in order of frequency, hands, feet and face. Some patients first noted difficulty fitting shoes. Its developmental character differentiates it from atrophic conditions such as the Parry Romber syndrome or linear scleroderma. Perinatal injuries are not universal and some cases are traumatic, such as a patient who suffered a gunshot wound to the head at age 6.

Genetic mutations such as the parkin mutation are reported, albeit rarely.

Surgery has been used including VIM DBS, bilateral STN DBS

The authors speculate that patients might have less dopaminergic neurons at birth, perhaps due to a toxin such as lipopolysaccharide, paraquat, or fungicide maneb.

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