Validation of Clinicoradiological Criteria for the Diagnosis of Cerebral Amyloid Angiopathy-Related Inflammation.

IMPORTANCE: Cerebral amyloid angiopathy-related inflammation (CAA-ri) is an important diagnosis to reach in clinical practice because many patients with the disease respond to immunosuppressive therapy. Reliable noninvasive diagnostic criteria for CAA-ri would allow some patients to avoid the risk of brain biopsy. OBJECTIVE: To test the sensitivity and specificity of clinical and neuroimaging-based criteria for CAA-ri. DESIGN, SETTING, AND PARTICIPANTS: We modified the previously proposed clinicoradiological criteria and retrospectively analyzed clinical medical records and magnetic resonance imaging fluid-attenuated inversion recovery and gradient-echo scans obtained from individuals with CAA-ri and noninflammatory CAA. At 2 referral centers between October 1, 1995, and May 31, 2013, and between January 1, 2009, and December 31, 2011, participants included 17 individuals with pathologically confirmed CAA-ri and 37 control group members with pathologically confirmed noninflammatory CAA. The control group was further divided into those with past lobar intracerebral hemorrhage (ICH) (n = 21) and those with cerebral microbleeds only and no history of ICH (n = 16). The dates of our analysis were September 1, 2012, to August 31, 2015. MAIN OUTCOMES AND MEASURES: The sensitivity and specificity of prespecified criteria for probable CAA-ri (requiring asymmetric white matter hyperintensities extending to the subcortical white matter) and possible CAA-ri (not requiring the white matter hyperintensities to be asymmetric). RESULTS: The 17 patients in the CAA-ri group were a mean (SD) of 68 (8) years and 8 (47%) were women. In the CAA-ri group, 14 of 17 (82%) met the criteria for both probable and possible CAA-ri. In the control group having noninflammatory CAA with lobar ICH, 1 of 21 (5%) met the criteria for possible CAA-ri, and none met the criteria for probable CAA-ri. In the control group having noninflammatory CAA with no ICH, 11 of 16 (69%) met the criteria for possible CAA-ri, and 1 of 16 (6%) met the criteria for probable CAA-ri. These findings yielded a sensitivity and specificity of 82% and 97%, respectively, for the probable criteria and a sensitivity and specificity of 82% and 68%, respectively, for the possible criteria. CONCLUSIONS AND RELEVANCE: Our data suggest that a reliable diagnosis of CAA-ri can be reached from basic clinical and magnetic resonance imaging information alone, with good sensitivity and excellent specificity.

Increased serum levels of ICAM-1, ELAM-1 and TNF-alpha in inflammatory disorders of the peripheral nervous system.

Endothelial intercellular adhesion molecule-1 (ICAM-1) and glycoprotein E-selectin (ELAM-1) allow the homing of leukocytes to inflammation sites. A circulating form of ICAM-1 markedly increases in inflammatory CNS disorders. In the present study, the serum levels of ICAM-1, ELAM-1 and tumor necrosis factor-alpha (TNF-alpha) were measured in patients with acute (AIDP) and chronic (CIDP) inflammatory demyelinating polyneuropathies and cryoglobulinemic neuropathy (CGN). Immunoenzymometric assays revealed increased sICAM-1 levels in some of these patients; furthermore, high titres of ELAM-1 and TNF-alpha were detected in two patients with AIDP and one patient with CGN. Our data extend previous observations on inflammatory PNS disorders by showing that, in addition to ICAM-1, ELAM-1 also represents a useful marker of endothelial activation and that, taken together, the two molecules may serve as an indicator of specific pathogenetic mechanisms.

Polyglucosan body myopathy: a new case.

We report a 51-yr-old woman with late-onset progressive weakness affecting proximal limb muscles. Muscle biopsy revealed a vacuolar myopathy with accumulation of amylopectin-like polysaccharide resembling the polyglucosan found in type IV glycogenosis and adult-onset polyglucosan body disease. A biochemical study ruled out specific enzymatic defects known to cause storage of this abnormal material. Our case confirms the existence of a 'polyglucosan body myopathy' as a distinct clinicopathological entity in which the biochemical defect is unknown.

[Systemic lupus erythematosus in childhood: review of the literature and personal observations on 32 cases]. / Il lupus eritematoso sistemico nell'infanzia: revisione della letteratura e osservazioni personali su 32 casi.

The main clinical features as well as the most important laboratory test in systemic lupus erythematosus (SLE) are reviewed. The peculiar aspects both in clinical presentation and in natural history of this disease in childhood are stressed. Personal experience is reported: 32 cases, 8 males and 24 females, mean age of onset 10.9 + 2.1 yrs, are evaluated. The most frequent clinical symptoms at diagnosis were fever, skin involvement and joint involvement, while anemia, nephropathy and hepatosplenomegaly were frequently present at onset. ANA were detected in all the subjects, anti dsDNA in 84% of cases; in only one patient SS-A/SS-B assayed positive. C4 was decreased in 17/32 cases at onset, in the others during the course of disease. Three patients died, 2 for infections, 1 for a non-Hodgkin lymphoma. Two cases present a chronic renal failure (1 is dialyzed).

Choroid plexus papilloma of the cerebello-pontine angle.

The clinical symptoms, neuroradiological findings and post-operative course is described in four patients affected with a choroid plexus papilloma of the cerebello-pontine angle. Clinical criteria (such as the early onset of signs and symptoms of raised intracranial pressure, and the early impairment of the auditory function) and the neuroradiological pictures (the lack of bone lesions, the tumour appearance as a hypodense mass on CT scan, which is well-enhanced after contrast injection) help the neurosurgeon to predict the surgical findings, but they cannot be considered as definite. The prognosis of such tumours is related more to the difficulties of the surgical intervention than to the peculiar properties of the growth.

Möbius-like syndrome due to multiple cerebral abnormalities including hypoplasia of the descending tracts. A case report.

The clinicopathological findings are reported in a child with congenital oculofacial diplegia, paresis of pharyngeal and laryngeal muscles, and concomitant tetraparesis. The constellation of signs and symptoms correlates with a complex picture of maldevelopment, including absence of olfactory bulbs, hippocampal abnormalities, hypoplasia of the corpus callosum and of the cerebellum, and severe hypoplysia of the descending pathways. We stress the role played by the hypoplasia of the descending fibres, with consequent denervation of the cranial nerve nuclei, in producing the Möbius-like picture.

Lumbar epidural Ewing sarcoma. Light and electron microscopic investigation.

The clinicopathological findings in a child with extraskeletal Ewing sarcoma are described. The patient complained of pain in the lower back and difficulty walking. An extraskeletal, epidural, friable tumor, 2-3 cm long was removed from the epidural space. It had no relationship with the bone structures. Light and electron microscopic examination of the tumor led to the diagnosis of Ewing sarcoma. The morphological aspects of this neoplasia and the problem of the differential diagnosis with other small cell tumors of the epidural space are discussed.

Gliomatosis cerebri diffusa. A case report.

The clinico-pathologic findings in an additional case of gliomatosis cerebri are reported: a 60-year-old woman died 8 months after the onset of a progressive deterioration of both the neurologic and mental conditions. Neuropathologic examination disclosed wide demyelination of both hemispheres, communicating through the corpus callosum, extending downward along the internal capsule to the brainstem structures. Cellular stains showed the presence of elongated astrocytes, multinucleated cells, mitotic and anaplastic figures, involving the demyelinated areas and the neighboring regions, and allowed the diagnosis of gliomatosis cerebri diffusa. The nosologic and pathogenetic aspects of this rare entity are discussed.

Frequency and distribution of tubulo-filamentous nuclear inclusions in the celiac ganglion of the cat as revealed by serial sections.

On sections at random of a cat celiac ganglion we counted 68 sections of nuclear inclusions (NI) for 320 sections of neuronal nuclei, i.e. an "apparent' frequency of 0.20. As revealed by serial sections the "actual' frequency is higher since the 5 nuclei entirely explored exhibit 19 NI. Such a study shows that each nucleus may contain at least 3 and up to 5 different tubulo-filamentous NI.

[Four cases of Creutzfeldt-Jakob's disease (author's transl)]. / La malattia di Creutzfeldt-Jakob considerazioni su quattro casi.

The clinico-pathological features of 4 cases of Creutzfeldt-Jakob disease, a transmissible virus dementia, are reported. The onset of the disease varied between 54 and 81 years of age: the course is dramatic and the demise occurs 1-4 months after the onset of symptoms. The clinical picture includes mental deterioration with amnesia, aphasia, apraxia and neurologic symptoms, mainly consisting in progressive rigidity and myoclonus. All cases show the typical 1/sec pseudorithmic spikes on EEG. Histological changes include severe astrocytosis of the cerebral cortex, status spongiosus and mild neuronal loss. The changes are more marked in the parieto-occipital lobes. Criteria of clinical and pathological diagnosis are reviewed. The precautions to be taken in handling biological as well as bioptic and autoptic specimens are emphasized, in order to avoid accidental transmission of the disease. It seems essential to institute a register of cases of Creutzfeldt-Jakob disease in Italy to assess the incidence and diffusion of the disease in our country.

Cyclic AMP and ultrastructural organization of the nerve cell nucleus: stimulation of nuclear microtubules and microfilaments assembly in sympathetic neurons.

As we have previously shown for electrical stimulation, in vivo cyclic AMP analogues and theophylline induce an increase (up to 8.5-fold) in the frequency of microtubular-microfilamentous inclusions in the nucleus of sympathetic neurons. These drugs, like electrical stimulation, do not modify the ultrastructural organization of such inclusions, which is briefly reviewed in the present study with the help of tilting experiments. Such data consistent with our previous opinion that microtubules and microfilaments are normal nuclear constituents of these nerve cells, their frequency being related to physiological activity. Moreover, our results may now be discussed in terms of the relationship between these nuclear inclusions and the physiological modulation of transmission through the sympathetic ganglion. Finally, as recently demonstrated in the cytoplasm, the present study shows for the first time that cyclic AMP promotes the assembly of microtubules and microfilaments in the nuclear compartment.

[Mechanism of the appearance of nuclear inclusions with microfilaments and microtubules in sympathetic neurons. Influence of dibutyryl-adenosine 3'-5' monophosphate and theophylline]. / Recherches sur le mécanisme d'apparition des inclusions nucleaires à microfilaments et à microtubules des neurones sympathiques. Influence du dibutyryl-adénosine 3'-5' monophosphate cyclique et de la théophylline

As we have shown previously the nucleus of sympathetic neurons contains microtubules and microfilaments giving rise to highly organized inclusions. Present in vivo experiments on cat stellate ganglia have shown that dibutyryl cyclic AMP and theophyllin induce an increase of their frequency (up to 8.5 fold). These and earlier observations lead us to conclude that cyclic AMP mediates the process of nuclear microtubules and microfilaments assembly from preformed protein subunits.