Rheumatoid nodules: the importance of a correct differential diagnosis.

Knuckle pads is a syndrome characterized by the presence of multiple nodules located on the extensor side of the interphalangeal or metacarpophalangeal joints. Several conditions can be confused with Knuckle pads. We describe a case of a 47-years-old man who developed multiple bilateral roundish nodules located in the skin over the dorsal and lateral interphalangeal joints in both hands.

Systemic sclerosis therapy with iloprost: a prospective observational study of 30 patients treated for a median of 3 years.

Iloprost is useful in the short-term treatment of severe Raynaud's phenomenon and ischaemic ulcers in patients with systemic sclerosis (SSc), but its long-term effects are largely unknown. The aim of this study was to report long-term outcome (median follow-up 36 months) in a prospective observational study of a cohort of 30 consecutive patients with SSc who received iloprost therapy with maintenance infusions every 3 weeks after an initial cycle of 5 consecutive days. At the end of the observation, compared to the pretreatment point, we observed complete healing of digital ulcers in 19/21 patients (90%), a decrease of the Raynaud's phenomenon visual analogue score from 10/10 (25th-75th percentile 7-10) to 5/10 (4-6.75) ( P <0.001) and, in patients with diffuse cutaneous involvement, of the modified Rodnan skin thickness score from 25.5 (16.5-31.5) to 16 (13.5-20) ( P = 0.02), minimal improvement of the Health Assessment Questionnaire from 0.87 (0.68-1.37) to 0.75 (0.62-1.25), which was neither statistically nor clinically significant. The forced vital capacity was not significantly changed, but the diffusion capacity corrected for the alveolar volume decreased from 71% (54-76.7) of the expected value to 62% (51.5-71) ( P = 0.02). In one patient with limited SSc a positive effect on pulmonary hypertension was observed. Six patients, after a median of 25 months of treatment and healing of digital ulcers, discontinued the therapy; after a median of 10 months ulcers did not recur in five of these six. Other reasons for discontinuation were: tolerability (1), disease progression (normotensive renal crisis: 1), and death due to intracranial haemorrhage (1). This same patient had previously suffered a central retinal vein thrombosis. In conclusion, long-term therapy with iloprost in patients with SSc has a durable effectiveness on ischaemic ulcers and Raynaud's phenomenon, but it is not possible to conclude that the natural history of the disease was modified.

Undifferentiated connective tissue disease with antibodies to Ro/SSa: clinical features and follow-up of 148 patients.

OBJECTIVE: To evaluate the clinical and serologic profile, the rate of progression to well defined CTD and the possible predictors of disease evolution in patients affected by UCTD with antibodies anti-RoISSA. METHODS: 148 patients diagnosed as UCTD were retrospectively evaluated. Antibodies to SSA/Ro were determined by counter-immunoelectrophoresis and ELISA. RESULTS: Thirty-six patients (24.3%) developed a well-defined CTD after a mean follow-up of 4.5 years. Most patients developed primary Sjögren's syndrome (SS) (50%) or systemic lupus erythematosus (SLE) (30.5%). Leukopenia and xerophthalmia developed more frequently in the group of patients evolving to defined CTDs (p < 0.0032 and p < 0.0063). Leukopenia independently predicted the evolution in CTD by multivariate regression analysis (p < 0.019). Anti-dsDNA predicted the evolution in SLE (p < 0.0207), while the presence of additional anti-ENA specificity to anti-Ro/SSA was not associated with the outcome. CONCLUSION: 24.3% of patients with UCTD and antibodies to Ro/SSA can progress in a relatively short period of time to well-defined CTDs. The development of primary SS could be predicted by xerophthalmia and SLE by the appearance of anti-dsDNA antibodies.

[Systemic sclerosis. Which therapies?]. / Sclerosi sistemica. Quali terapie?

Sistemic sclerosis is a connective tissue disease characterized by excessive deposit of collagen in the skin and in different viscera such as the lung, the heart, the kidney, the gastrointestinal tract and muscoloskeletal system. Fibrosis is a natural and not reversible consequence of this extracellular matrix accumulation. Past management strategies have not been successful, usually. New physiopathologic knowledges establish the bases to obtain a more successful control of the disease evolution. Literature data underline the importance of a timely and personalized therapy based on kind, seriousness and stage of internal organs involvement to allow the patient to continue normal public relations, a good quality of life and the improvement of its global prognosis of this disease, often cause of disability and death. Actually, drug therapeutic management is based on combined use of vascular drugs: topical (Nitroglycerin patches), oral (Ace inhibitors and Calcium channel blockers) or, in severe cases, parenteral vasodilators (Prostaglandins and Prostacyclins), immunosuppressive therapies (Cyclophosphamide, Cyclosporin A, Methotrexate) and antifibrotic drugs (Penicil-lamine, Interferons).

Chilblain lupus erythematosus is associated with antibodies to SSA/Ro.

Chilblain lupus erythematosus (CL) of Hutchinson is a subtype of lupus erythematosus (LE) characterized by erythematous lesions induced by cold, damp climates. A number of patients affected by CL eventually develop features of systemic lupus erythematosus (SLE). We report here 9 patients with chilblain cutaneous lesions, 6 of them were affected by SLE and 2 by SCLE. The onset of CL preceded the diagnosis of LE, from 1 to 10 years in 3 cases, it was concurrent in one case and was subsequent in the remaining 4 cases. Raynaud's phenomenon and photosensitivity were other prominent clinical features in patients with CL. Nailfold capillaroscopy revealed pathological changes in every patient examined. ANA and anti-SSA/Ro antibodies were detected in all nine patients. Anti-SSB/La were detected in 2 cases, anti-Sm in one case, and anti-Sm and anti-RNP in a one case. Antibodies to dsDNA and complement consumption were found in the six patients with SLE. The fine specificity of anti-SSA/Ro was determined by immunoblotting: anti-60kD and anti-52 kD were detected in three sera, anti-60kD alone in 5 sera, while one serum did not blot. In conclusion, the present study suggests that chilblain LE is associated with SSA/Ro autoantibodies, as is SCLE, hypergammaglobulinemic purpura and neonatal lupus erythematosus.

Triphasic waves associated with acute naproxen overdose: a case report.

Triphasic waves (TWs) can be recorded on EEG in the course of several metabolic disorders, mainly hepatic encephalopathy. A case of acute encephalopathy due to naproxen intoxication is reported, in the course of which diffuse, bilateral and symmetrical TWs were recorded. Biochemical mechanisms that might determine both a complex encephalopathy and TWs are discussed.

The masseteric inhibitory reflex in the diagnosis of multiple sclerosis.

In order to evaluate the reliability of the masseteric inhibitory reflex (MIR) as a screening method in the diagnosis of multiple sclerosis (MS), a series of 41 consecutive patients affected by clinically defined, long-duration forms (mean duration 10.9 years) of the disease was examined. In all cases magnetic resonance imaging and CSF isoelectrofocusing confirmed the diagnosis. Sensitivity of MIR, Blink Reflex and BAEPs were compared. Statistical analysis of data suggested the following considerations: 1) a significant concordance was found between MIR and the other neurophysiological tests performed (MIR vs. BAEPs in 78.4% of cases, p < 0.001; MIR vs. blink reflex in 68.3%, p < 0.02). 2) The S1 early component of MIR is a more reliable indicator than S2 late component. 3) In detecting brainstem lesions the sensitivity of MIR equaled that of the other neurophysiological tests. 4) Poor localizing concordance between neurophysiological tests and neuroimaging was found in our series. A possible utilization of MIR, as a part of a multimodal neurophysiological approach, even in patients affected by possible or probable MS is suggested.

Spindle coma and alternating pattern in the course of measles encephalitis.

Acute disseminated encephalomyelitis (ADEM) is a well known complication of measles infection. Electroencephalographic abnormalities may occur frequently, in the form of moderate to severe diffuse high voltage theta-delta activity. We report a case of measles encephalitis with rapid benign outcome, that showed peculiar EEG features both of a "spindle coma" pattern and of an "alternating pattern." Possible physiological explanations of the EEG findings are discussed.

Steadiness of amyotrophic lateral sclerosis in the province of Parma, Italy, 1960-1990.

A clinical and epidemiological study on amyotrophic lateral sclerosis (ALS) was conducted in the province of Parma, Italy, from 1960-1990. A total of 121 cases were collected from hospital records. The average annual incidence was 0.98 per 100,000 inhabitants, with a male/female ratio of 1.1. Age-specific incidence was maximal in the age group 60-69 years. No difference between rural and urban areas was found. Prevalence on October 26th, 1981 was 2.5 per 100,000. Mean age at onset was 60 years, with no significant sex difference. Mean duration of the disease was 30 (sd 21.4) months. Bulbar forms were significantly (p < 0.05) shorter than conventional forms, with a mean duration of 23.4 (sd 21.4) months. Age at onset did not influence prognosis. A comparison of three decades was made, to verify whether possible variations of the disease had occurred with time. From our data a definite stability was found in such epidemiological parameters as incidence, prevalence, mean duration and mortality of ALS in the period.

Post-anoxic theta and alpha pattern coma.

Theta pattern coma is a rare EEG finding, described in the course of post-anoxic or post-traumatic coma and interpreted as a "malignant" variant of alpha pattern coma. A case of isolated theta pattern coma, followed by alpha pattern coma is reported. Short temporal succession of such patterns would seem to confirm the hypothesis of a close relationship between them. Possible physiological mechanisms involved in the generation of the patterns are discussed.

Reliability of EEG in the diagnosis of Creutzfeldt-Jakob disease.

Although EEG is generally considered a useful tool for the diagnosis of Creutzfeldt-Jakob disease (CJD), some cases have been reported where the EEG was non-specific. We reviewed a series of 15 CJD patients, observed in our institute in the period 1975-91. In 12 cases the diagnosis was confirmed on post-mortem examination. The prominent aspect of the present series was the homogeneity of clinical, neurophysiological and neuropathological data. All patients showed the presence of periodic sharp wave complexes (PSWC) and EEG reactivity to external stimuli or drugs was uniform. The EEG can give essential information for the diagnosis of CJD if 2 basic conditions are satisfied: (1) serial recordings are performed in relation to the different stages of the disease, and (2) not only the presence of PSWC is considered, but also the reactivity of EEG to dynamic events such as the response to external stimuli and drugs, and the level of consciousness.

Peroneal muscular atrophy with parkinsonism, ptosis, and congenital strabismus.

Peroneal muscular atrophy (PMA) may be occasionally associated with other neurodegenerative features including parkinsonism. We report the association of PMA of neuronal type with parkinsonism, ptosis and congenital strabismus in a 62-year-old Sicilian woman. The complete syndrome was present only in the proband, but variously combined features were present in ten other family members over four generations, with likely autosomal dominant inheritance. Although a similar syndrome of PMA, ptosis, parkinsonism and dementia was already reported, this family showed a previously undescribed combination of features in view of the presence of congenital strabismus.

Unilateral trismus caused by vertebrobasilar dolichoectasia.

Vertebrobasilar dolichoectasia is a relatively uncommon pathological entity and generally asymptomatic. We report a quite unusual case of unilateral motor trigeminal involvement with trismus, due to VD. Apart from tetanus or local morbid conditions of the mouth, trismus is often attributed to disturbed programming and co-ordination of the masticatory muscles within the mesencephalic nucleus. The possibility of truncal compression of the trigeminal motor root by vertebrobasilar dolichoectasia being responsible for masseter muscle spasm, in analogy with the pathogenetic mechanisms proposed in hemifacial spasm, is proposed as an alternative explanation in the present case.

Acute esotropia from small thalamic hemorrhage.

A 74 year-old patient developed transient acute esotropia, upward gaze palsy and imbalance of standing and gait. Computed Tomography (CT) demonstrated a small left thalamic hemorrhage in the absence of midbrain lesions. The role of thalamic lesion in the genesis of monocular supranuclear palsy is discussed.

Transient traumatic reticular myoclonus. Case report.

Reticular myoclonus in man is a rare manifestation, generally due to uremia or post-hypoxic conditions. The case of a patient who showed transient myoclonus of sternocleidomastoid and facial muscles, immediately after direct cervical trauma, is described. Absence of paroxysmal EEG activity, topographic distribution of jerks and sequence of muscle activation suggest a reticular myoclonus. Possible physiopathological mechanisms are discussed.

Considerations on a group of 13 patients with Creutzfeldt-Jakob disease in the region of Parma (Italy)

We report a group of 13 cases of Creutzfeldt-Jakob disease treated in the region of Parma (Italy) between 1975 and 1984. An extensive study did not point to any common source of infection. The clinical stereotypy and distinctive neuropathology in this temporo-spatially confined group of patients might be stressed, but the possibility of infection by a single strain of the CJD agent remains speculative.

MR findings in Meige syndrome.

A 65-year-old woman was diagnosed clinically to have Meige syndrome in the oromandibular dystonic clinical variant of Marsden. On magnetic resonance imaging a reduced signal intensity in the head of the caudate nuclei, more prominent on the right, and in both putamina was shown.