[Dopa-responsive dystonia (Segawa syndrome) with secondary skeleton deformity]. / Dystonia segawy z wtórna deformacja ukladu kostnego.

Dopa-responsive dystonia (DRD) is a rare, autosomal dominant (GTP-cyclohydroxylase gen mutation on chromosome 14q) or rarely recessive (tyrosine hydroxylase gene mutation on chromosome 11p) inherited disorder. Both enzymes take part in dopamine synthesis. Their deficiencies cause the dopamine level reduction. The first clinical symptoms occur in the childhood. The authors present the case of a 24-year-old woman in whom the lower limb dystonia occurred when she was five. Then the trunk and upper limbs dystonia appeared with skeleton deformities leading to deep disability. DRD was recognized when she was 19 and L-Dopa was administered. The clinical status improved, dystonic movements disappeared completely. The authors indicate that DRD must be taken into account in differential diagnosis of movement disorders in children, mostly in progressive cases. Good effect of L-Dopa treatment is one of the basic phenomena helpful in DRD recognition.

[Lance-Adams syndrome in patient with anoxic encephalopathy in the course of bronchial asthma]. / Zespól Lance-Adamsa u chorej z encefalopatia anoksyczna w przebiegu astmy oskrzelowej.

Lance-Adams syndrome, described in 1963, is caused by anoxia of central nervous system, generally in the course of primary respiratory failure. It is characterized mainly by action myoclonus, associated cerebellar ataxia and very mild intellectual deficit. Occurrence of Lance-Adams syndrome is rare; about 100 cases have been described yet. The authors present the case of Lance-Adams syndrome in 36-year-old woman with many years' bronchial asthma. Three times acute cardiopulmonary arrest appeared during status asthmaticus. After successful cardiopulmonary resuscitation action myoclonus developed with cerebellar syndrome, aphonia, dysphagia and generalized convulsive seizures of tonic-clonic type. Electroencephalography showed polyspikes and complex of polyspikes-slow wave, synchronized with myoclonus. CT of the brain was normal. Action myoclonus responded appropriately to sodium valproate. The authors indicate the importance of the correct diagnosis and proper treatment.