A. Riva

Autosomal dominant late-onset leukoencephalopathy : Clinical report of a new Italian family

The adult-onset autosomal dominant leukoencephalopathies are rare disorders. Very few pedigrees have been extensively described and no biochemical or genetic marker has been identified so far. The present study was aimed to characterized an autosomal dominant late-onset leukoencephalopathy occurring in a large Italian kindred. A genealogic method was adopted to ascertain 51 affected individuals among nearly 400 subjects in 8 generations. Medical records were obtained from 11 deceased patients. We personally examined 8 symptomatic and 9 asymptomatic at-risk individuals who underwent a standardized clinical, biochemical, radiological and neurophysiological study. The mean age at onset of the disease was 46.6 years and the mean duration of disease 9.9 years. The clinical picture was characterized by progressive pyramidal and pseudobulbar signs, urinary incontinence and, sometimes, action tremor of the head and/or hands. No relevant mental deterioration was noted. In all the symptomatic and in 1 asymptomatic subject, brain MRI showed marked symmetrical hyperintensity on T2-weighted images of the white matter of the cerebral hemispheres, with constant sparing of the cerebellum. In these subjects, evoked potentials revealed altered central neural conduction. Nerve conduction velocity, biochemical (including lysosomal enzymatic activities) and biopsy (peripheral tissue specimens) examination were normal. The clinical and neuroradiological data are consistent with an autosomal dominant adult-onset leukoencephalopathy whose features are unusual when compared to those previously reported.

Spinal Dural Arteriovenous Fistulas: An Underestimated Cause of Myelopathy

13 patients with spinal dural arteriovenous fistulas (DAVF) diagnosed in our Institution have been the object of this study. The necessity to include the disease in the differential diagnosis with other pathologies affecting the lower thoracic cord, particularly in middle-aged and old males, is emphasized. Involvement of the spinal cord was always demonstrable on magnetic resonance studies, but pathologic vessels suggesting the possibility of DAVF were seldom recognizable. Myelography still remains an important complementary method. Spinal angiography is essential, taking into account that the fistula can be located far from the spinal cord. The therapy consisting in embolization in 7 cases and embolization associated with surgery in 6 cases led to improvement or stabilization of the disease in all cases. Our cases are discussed in comparison with the literature.

Superficial Siderosis of the Central Nervous System: Neuroradiological Evaluation of Two Cases

We present 2 cases of superficial siderosis of the central nervous system secondary to chronic subarachnoid bleeding. The diagnosis was made with MR and cerebrospinal fluid (CSF) examination. MR showed, in T2-weighted images, superficial hypointensity of the cervical cord, brainstem, cerebellum, and basal cisterns due to hemosiderin deposits. CSF was xanthochromic, with increased protein content. In 1 of the 2 cases also the CT examination was positive, showing a hyperdense rim around the brainstem. A complete neuroradiological evaluation (MR, CT, angiography and myelography) did not permit to detect the source of the bleeding.

Demenza in una paziente con fistola durale Aspetti clinici e neuroradiologici

Viene riportato un caso clinico di sindrome demenziale in una paziente portatrice di estesa fistola durale del seno longitudinale superiore. Vengono trattati gli aspetti clinici, diagnostici e terapeutici del caso specifico e delle fistole durali in genere.

Atassie cerebellari e spino-cerebellari primitive progressive

47 pazienti affetti da atassia cerebellare primitiva progressiva e 13 pazienti affetti da malattia di Friedreich, sono stati sottoposti a studio con RM. I reperti osservati sono stati confrontati con i classici quadri anatomo-patologici e interpretati alla luce dei più importanti criteri seguiti nelle più recenti classificazioni.

Aspetti clinico-neuro-radiologici nelle calcificazioni strio-pallido-dentate

Tre pazienti affetti da calcificazioni strio-pallido-dentate, o Morbo di Fahr, di diverse eziologie sono stati sottoposti a studio radiologico mediante TC e TRM. Vengono riportati i risultati, e la sintomatologia clinica presentata dai pazienti. La discrepanza tra il reperto della TC e della TRM viene descritta, discussa e confrontata con i dati in letteratura.