MRI and SPECT investigations of the CNS in SLE patients.

Twenty-two SLE patients were examined with Magnetic Resonance Imaging (MRI) and Single Photon Emission Computed Tomography (SPECT). Multifocal areas of cerebral blood flow (CBF) defects were found in 81.8% of the patients. These alterations were present in patients with severe neurological disorders, in those with neuropsychiatric symptoms only, and also in asymptomatic cases. Anticardiolipin antibodies (aCL) were detected in all patients, but no correlation was found between serum aCL positivity and neurological involvement. The high incidence of cerebral blood flow disorders found in asymptomatic patients, and their poor correlation with the MRI alterations suggest a primary defect of CBF in these patients.

A large inbred Palestinian family with two forms of muscular dystrophy.

This paper reports the results of a clinical, genetic and histopathological study of 19 patients belonging to a large inbred Palestinian family living in Um-El-Fahem, a town located in Israel, which is solely inhabited by Arabs. Their custom of marrying only among relatives has kept the genetic homogeneity of the families intact. There were ten cases of congenital muscular dystrophy (CMD) and nine cases of adult limb-girdle muscular dystrophy (LGMD) belonging to two generations of the same family. Both forms showed autosomal recessive inheritance. The patients with congenital muscular dystrophy had generalized muscular weakness and hypotonia at birth without arthrogryposis or CNS involvement and then had a relatively benign evolution with stabilization of the clinical picture at different ages and variable degree of severity. Muscle biopsy showed a dystrophic pattern. The other nine patients presented with the picture of adult limb-girdle muscular dystrophy but with an unusual tendency to the stabilization of symptoms.

Ischemic encephalopathy in ANA-negative systemic lupus erythematosus.

A woman with a nine-year history of Raynaud's phenomenon developed photodermatitis and a sudden neurological syndrome characterized by transient focal disorders accompanied by wide and persistent cerebral lesions demonstrated by CT, NMR and SPECT imaging. A careful evaluation of the clinical manifestations of neurological SLE along with the detection of anti-Ro/SSA antibodies prompted us to reconsider the diagnosis of SLE. Moreover, the discrepancy observed between the poor neurological picture and the widespread encephalic alterations shown by CT, NMR and SPECT imaging suggests that it may be useful to conduct these investigations in patients affected by SLE with modest neurological signs and symptoms. A further interesting aspect of this case is represented by the differential diagnosis with two other diseases, such as Sneddon's syndrome and multiple sclerosis, which are characterized by the presence of certain clinical and instrumental findings also observed in neurological SLE.

Sporadic multi-system atrophy with early onset and rapid fatal outcome (atypical O.P.C.A.?). Case report.

The authors report the clinical, instrumental and histopathological data observed in a 27 year old man, who died 20 months after the onset of a rapidly progressive neurological syndrome referable to a multitopic brain damage. The clinical picture, which at its fully developed stage was represented by supranuclear ophthalmoplegia, cerebellar ataxia, akinetic-rigid parkinsonism with axial dystonia and dementia, appeared consistent with the diagnosis of P.S.P. The histological examination showed degenerative changes of varied degree in the cerebellum, the brain-stem and the basal ganglia, but the neurofibrillary tangles characteristic of P.S.P. were not found, either with electron-microscopy. The case presented considerable difficulties regarding its nosological classification. Nevertheless, the lack of neuropathological findings of storage disease as well as the particular location of the degenerative lesions have induced the authors to consider it as an atypical form of sporadic O.P.C.A. in the field of M.S.A.

[Pneumoencephalographic findings in progressive supranuclear paralysis]. / Reperti pneumoencefalografici nella paralisi sopranucleare progressiva.

The Authors describe the result of air encephalography in 5 cases of Progressive Supranuclear Palsy (P.S.P.). In all cases signs of cortical cerebral atrophy were found (with a marked dilatation of the lateral ventricles in two patients). Equally constant were signs of atrophy in the brain stem and cerebellum with involvement of the vermis (in its superior part in four cases and diffused in one case). In three patients there was also subcortical cerebellar atrophy. Among the alterations observed the slight cerebral cortical atrophy does not seem to be due to the pathological process peculiar to P.S.P., but rather to other processes such as senility, vascular alterations etc. Atrophy involving the brainstem and the cerebellum was of interest being a constant finding easily correlated with symptoms and with the site of P.S.P. process. These findings, though without specificity, offer useful data and help to assess the evolution of the disease.

A case of benign recurrent meningitis of Mollaret.

A 72-year-old woman, previously in good health, suffered for 2 years from attacks of a complex neuropsychiatric syndrome lasting from 2 days to 4 weeks. These episodes, which were followed by intervals of nearly complete recovery, were usually marked by fever, headache, mental confusion, vomiting ataxia, anisocoria, epileptic seizures and stiffness of the neck. Neuroradiological investigation revealed only slight ventricular dilatation. In 13 CSF examinations, there was reduced glucose, increased protein, considerable rise of the IgG index and constant oligoclonal bands. There was also an increase of polymorphonuclear leucocytes, lymphocytes or epithelial-like cells. As all microbial, viral or mycotic tests were negative and the patient recovered, the case was considered to be benign recurrent meningitis of Mollaret. The nosological position of this rare disease, as well as its probable pathogenetic mechanisms, are discussed.

The tolosa-Hunt syndrome: further clinical and pathogenetic considerations based on the study of eight cases.

The Tolosa-Hunt syndrome (THS) is characterized by remittent and sometimes recurring episodes of painful ophthalmoplegia. The etiopathogenesis is still unclear and is an object of controversy. A non-specific granulomatous process of the wall of the cavernous sinus is claimed by many authors as the possible cause, on the basis of a few pathological studies. Other authors suggest the possible role of autoimmune or specific inflammatory processes localized in the retroorbital perineural tissues. The clinical, laboratory and radiological findings of the eight cases reported in the agreement with those previously described in the literature. However, the visual evoked potentials (VEP) were delayed in three of the four cases in which they had been studied. This finding, together with the observation that some analogies exist between THS and other well known neuritic processes of the cranial nerves, may suggest that at least in some cases THS may be related to an ocular polyneuritis.

[Progressive pseudomyopathic spinal amyotrophies (author's transl)]. / Sulle amiotrofie spinali prossimali pseudomiopatiche a proposito di due osservazioni

Genetic, elettromyographic, enzymological and histological aspects of two cases of proximal pseudomyopathic spinal amyotrophy are described. The former is related to a typical Wohlfart-Kugelberg-Welander syndrom with characteristics of recessive autosomal heredity. It is related to a fifteen-years old patient who, since he was ten has been affected by progressively increasing muscular hypotrophy. It was localized mostly on the scapular girdle and less on the pelvic girdle, with tendency to extend to the distal muscles of the limbs, without fasciculations or sensory symptoms. Serum enzyme levels were normal. Both muscular biopsy and electromyographic tests yield reports testifying a spinal amyotrophy. The later is related to a spinal pelvic girdle amyotrophy arisen in a thirty-three-year old subject who since twenty-nine has started to present weakness and hypotrophy of pelvic girdle muscles and of the roots of the thighs particulary involving the adducent muscles. There were neither amyotrophies in other districts nor fasciculations. Serum enzyme levels were normal. Muscular biopsy clearly proved a neurogenic amyotrophy. E.M.G. showed signs of myogenic and neurogenic sufference. Problems concerning the nosographic delimitation of different spinal muscular atrophies are discussed on the ground of literature, too.

[On a case of Guillain - Barre's polyradiculoneuritis with arterial hypertension (author's transl)]. / Su un caso di ipertensione arteriosa in corso di radicolopolinevrite di Guillain-Barre'

A twenty year old man affected by Guillain-Barré's radiculopolyneuritis with tetraparesis had high protein and only few cells in the C.S.F., with no cranial nerve involvement or respiratory difficulty. He had high arterial pressure (both diastolic and systolic) for about three months accompanied by episodes of tachycardia and hyperhydrosis. Investigations of renal functionas well as catecholamine and vanil-mandelic acid urinary excretion were normal. Tilting test and carotid sinus reflex were normal. The patient recovered almost completely eight months after the onset of his illness. The presence of arterial hypertension in the Guillain-Barré's syndrome has been rarely reported with no respiratory involvement; however this condition may be less rare than suspected. The pathogenesis of this complication is not easy to explain. According to the authors this condition may be due, in cases, to impairment of the sympathetic system mostly at peripheral level. In some cases of Guillain-Barré's syndrome renal involvement of immunopathological origin might be the cause of hypertension. The authors emphasize the importance of a correct evaluation of symptoms in the prognosis and in the choice of therapy.