[The acute tetraparesis as a rare presentation of Chiari malformation]. / Ostroe razvitie tetrapareza kak redkoe proyavlenie anomalii Kiari I tipa.

The authors present a case-report of a 25-year-old patient who developed symptoms of transversal injury of the spine. The patient was followed-up for 2 years and had a stable course of Chiari malformation I and syringomyelia. Motor disorders and deep sensory disorders developed without external cause and continued to increase during 2.5 weeks with the further development of pelvic disorders. After the urgent cranial/vertebral decompression with the plastics of the dura mater by a fragment of a wide fascia of the thigh, there was an increase in muscle power (with the complete recovery in hands), regress of deep sensory disorders in hands and pelvic disorders. A literature review on case-reports of acute neurological symptoms in Chiari malformation I and syringomyelia in presented.

[Clinical heterogeneity of X-linked adrenoleukodystrophy ]. / Klinicheskoe raznoobrazie X-stseplennoi adrenoleikodistrofii.

X-linked adrenoleukodystrophy (X-ALD) is a relatively common world spread disease characterized by significant clinical heterogeneity. Clinico-biochemical examination in the Medico-genetic research center identified, 20 X-ALD cases in 17 families over 5 years. Prevalence of children (60%) and adolescence (25%) cerebral forms is explained, in part, by patients referring for medical-genetic counseling. Adrenomyeloneuropathy was diagnosed in one patient. In two healthy siblings presymptomatic stage was found. A main X-ALD biochemical marker is an increase of very long chain fatty acids (VLCFA) level, which does not depend on clinical form of the disease. Most interesting appeared to be a family including 5 patients in 3 generations with intrafamilial combination of childhood and adolescence cerebral forms, and atypically mild disease course in proband. Regarding symptoms of childhood and adolescence cerebral forms, attention has been drawn to 3 patients with tics, which mask organic nature of the disease on its initial stage. X-ALD is so far incurable, but its timely diagnosis provides an adequate medico-genetic help on the base of modern prenatal diagnosis.