Recurrent attacks of flexion of the right hand and arm and bowing of the head initiated by sudden movement were associated with idiopathic hypoparathyroidism in a 12 yr old boy seen at the Children's Hospital of Philadelphia, PA. An EEG showed a right frontal spike wave focus, and attacks were initially controlled by phenytoin. The boy later developed massive myoclonic spasms of the legs. CT scan revealed calcification of the basal ganglia, frontal lobes, and the right cerebellar hemisphere. The serum calcium was 5.6 and phosphorus 11 mg/dl. The spasms responded to ergocalciferol, 25000 units twice daily, and calcium lactate. The authors propose this association of “paroxysmal dystonic choreoathetosis and hypoparathyroidism” as a syndrome distinct from “familial paroxysmal choreoathetosis without hypocalcemia” and “movement reflex epilepsy”. They cite 2 similar cases in the literature. [1]
COMMENT. In the differential diagnosis of dystonia, a CT scan showing calcification in the basal ganglia lead to tests for hypoparathyroidism whereas an MRI may be helpful in the diagnosis of Hallervorden-Spatz disease. Dystonia and striking MRI abnormalities in the globus pallidus (“eye-of-the-tiger” sign) are described in 2 patients with Hallervorden-spatz syndrome [2]. One patient developed arching of the body backward and a diagnosis of dystonia at 14 years. She slowly deteriorated and at age 20 had progressive difficulty with mouth closure and at 32 years, frequent falling. CT scan of the head was normal whereas the MRI T2-weighted images showed a low-signal area surrounding a relatively circumscribed region of high signal in the globus pallidus. The 'eye-of-the-tiger' sign is an appropriate name for this abnormality. The second patient, a 20-year-old woman, had a 1-year history of progressive difficulty with night vision and repeated forceful eye closure aggravated by sudden noise and attempted eye opening. The neurological findings were frequent blepharospasm, repetitive slow tongue protrusion, and tapetoretinal degeneration. Slow deterioration occurred over the next 2 years and reexamination showed facial grimacing, severe blepharospasm, tongue protrusion, resting tremor of hands, tongue, and jaw, and cogwheel rigidity of arms. CT scan was normal and the MRI showed the “eye-of-tiger” sign in the globus pallidus.