Amyotrophic lateral sclerosis in Sardinia (Italy): epidemiologic features from 1957 to 2000.

OBJECTIVES: To evaluate epidemiological variables of amyotrophic lateral sclerosis (ALS) in Sardinia (Italy) in the 1991-2000 periods and compare them with the preceding decades. MATERIAL AND METHODS: Survey, critical reappraisal or clinical re-evaluation of all ALS cases with onset in the decade 1991-2000; calculation of crude and age-adjusted incidence, duration of disease, survival rates and the latency between onset of symptoms and diagnosis. RESULTS: A significant increase in the mean annual incidence was observed in comparison with the values found in the two previous decades, 1971-1980 and 1981-1990. The distribution of the disease in various areas of the island was found to be not at all homogeneous. No significant modifications of the duration of the disease and survival rates were observed. CONCLUSION: The role of particular exogenous factors, albeit still unclear, can be invoked.

Notalgia paresthetica following neuralgic amyotrophy: a case report.

We report the case of a patient who developed notalgia paresthetica during the recovery from a neuralgic amyotrophy. A 23-year-old woman had a typical neuralgic amyotrophy (severe shoulder pain, followed by a long thoracic nerve palsy); five months after the onset of pain, when scapular winging was improving, she began to feel a burning sensation in a restricted interscapular area, on the same side. Electromyography was consistent with a long thoracic nerve neuropathy, with minor neurogenic changes in deltoid and biceps brachii. Radiography of the spine was unremarkable. The notalgia paresthetica disappeared shortly before the complete recovery of scapular winging. The abnormal activation of shoulder girdle and spine extensor muscles during the time of long thoracic nerve palsy may explain the association between the two disorders.

[Atrial septal defect and transesophageal echocardiography. From the diagnosis to the monitoring of transcatheter closure]. / Ruolo dell'ecocardiografia transesofagea nella diagnosi del difetto del setto interatriale e nel monitoraggio della procedura di riparazione percutanea.

Atrial septal defect (ASD) is a common congenital heart disease representing 30% of congenital lesions in adults. Transcatheter closure has been regarded as an acceptable alternative treatment for patients with ASD. The prevalence of patent oval foramen (POF) is approximately 26% in autopsy and clinical studies, but it has been demonstrated that this prevalence is higher in patients with cryptogenic stroke. Even though the role of POF in the etiopathogenesis of cryptogenic stroke is debated, recurrent paradoxical embolism in the presence of POF associated with high motility of the membrane or with an atrial septal aneurysm is currently considered an indication for POF closure. This review covers the role of echocardiography (including transthoracic, transoesophageal and 3-dimensional methods) in the detection and diagnosis of these defects as well as the contribution of these techniques in the monitoring and follow-up of ASD and POF percutaneous closure.

Comparison of MRI, EEG, EPs and ECD-SPECT in Wilson's disease.

OBJECTIVES: The purpose of this study is to evaluate the efficiency of a few methodologies in detecting anatomo-functional brain abnormalities in patients with Wilson's disease. MATERIALS AND METHODS: Twenty-three patients with Wilson's disease underwent almost simultaneously brain magnetic resonance imaging (MRI), computerized electroencephalography (EEG), multimodal evoked potentials (EPs) and ECD single photon computerized tomography (SPECT) evaluation. The clinical picture was of the neurologic type in 8 patients and of the hepatic type in 15. RESULTS: MRI was abnormal in 7 patients with neurological manifestations. The EPs proved pathologic in 7 neurologically symptomatic patients and in 4 cases with hepatic form. These results agree with those reported in other case studies. The EEG records were abnormal only in 3 cases. Nevertheless, the most interesting finding of this study is the particular frequency (86%) of diffuse or focal decrease of ECD uptake shown by brain SPECT. CONCLUSION: We highlight the use of this interesting procedure in the therapeutic monitoring of this disease.

Sclerosteosis: report of a case in a black African man.

Sclerosteosis is a rare genetic disorder of bone modelling, similar to, but distinct from, van Buchem disease; it has been described almost exclusively in Afrikaners of South Africa, a white population of Dutch ancestry. Isolated cases have been reported in a girl in Japan, a boy in Spain, and in multiracial families in Brazil and USA. Here we report a case of sclerosteosis in a black man born in Senegal. He presented with the full features of the disease: tall stature; syndactyly: nail dysplasia; massive sclerosis of the long tubular bones, the ribs, the pelvis and the skull; multiple cranial nerve involvement: optic atrophy, facial palsy and trigeminal neuralgia. Radiologic examination, visual and brainstem auditory evoked potentials, computerized tomography and magnetic resonance imaging of the skull were performed. This seems to be the first case of the disease in a black African individual, with no known relationship with Dutch ancestry.

Visual evoked potentials in hypothyroidism: a long-term evaluation.

Visual Evoked Potentials (VEP) were measured in 9 new-diagnosed hypothyroid female patients--mean age 46 +/- 12 ys--before treatment, during (with monthly evaluations) thyroid hormone replacement therapy and after long-term therapy, at the achievement as well as one year after having achieved and maintained euthyroidism. Three of the hypothyroids had abnormally prolonged latencies (m.v. 131.7 +/- 7.9 ms), while 7 had lower than normal amplitude (m.v. 2.3 +/- 2.8 microV). No remarkable change of amplitude was observed after the achievement of euthyroidism, after a mean time of 5.9 +/- 4.9 months (range 2-14 months). A significant shortening of latency (m 128.3 +/- 7.6 ms), even still higher than the control value (m 122.7 +/- 3.7 ms) was found. Significant correlation between P100 latency and thyroid hormone levels was found for TT4 (r = 0.3353; p = 0.005), TT3 (r = 0.2568; p = 0.032) and FT4 (r = 0.3572; p = 0.002). No further improvement in P100 latency (m 129.5 +/- 7.2 ms; p = 0.037) was found one year after the achievement of euthyroidism, while a remarkable amplitude increase (m 9.2 +/- 3.4 micro; p = 0.001) was observed. Our findings indicate that, as well as other studied parameters, VEP are reversibly alterated in hypothyroidism, probably in relation to metabolic rather than to structural alterations. Moreover, VEP can represent a useful neurophysiologic parameter for quantitation of SNC involvement in hypothyroidism.

[Challenge for cow's milk protein intolerance diagnosis. Comparison between different modalities]. / Il test di provocazione per la diagnosi di intolleranza alle proteine del latte vaccino. Confronto tra diverse modalità.

BACKGROUND: The diagnosis of cow's milk protein intolerance (CMPI) is mainly based on the response to the elimination diet and to the subsequent exposure to these proteins (challenge). METHODS: To find out whether a "formal", strictly scheduled challenge was better than a less formal test in establishing CMPI diagnosis, records were reviewed of 87 children studied in 5 Hospitals in the Milan area during the last 3 years. RESULTS: The study showed that the diagnostic approach (formal vs informal challenge) did not affect the probability of confirming CMPI diagnosis (21% vs 19%). Moreover, this probability was not affected by the source of the first diagnosis (Hospital vs Family Doctor), the time elapsed between first diagnosis and challenge, and the laboratory tests performed during the challenge. CONCLUSIONS: Therefore, a less strictly scheduled approach could be conveniently suggested to confirm CMPI diagnosis, at least in unselected cases.

[Gianotti-Crosti acrodermatitis. Description of a case of rare etiology]. / Acrodermatite di Gianotti-Crosti. Descrizione di un caso ad eziologia rara.

Originally described in 1955, papular acrodermatitis is considered a rare disease whose manifestations are mainly cutaneous. The disease is characteristically associated to a non icteric hepatitis with B serologic tests positive. We recently observed a case whose etiology is unusual and, therefore, in our opinion worth of a brief description.

Epidemiological study of myasthenia gravis in Sardinia, Italy (1958-1986).

From 1.1.1958 to 31.12.1986, 110 cases of MG were observed in Sardinia, with a mean annual incidence of 2.5 x 1,000,000 inhabitants and prevalence rates of 7.5, 17.6, 31.4 and 45.0 x 1,000,000 inhabitants respectively (prevalence days: 15.10.1961, 24.10.1971, 25.10.1981 and 31.12.1986). The disease was found to be more frequent in women. There were no differences in the distribution of MG in various areas of the island. The muscle group more frequently involved at onset was the ocular. In 6.4% of patients an association with thyroid disorders was observed. The mortality of MG patients was significantly higher than expected. Removal of the thymus, carried out in 58 patients, was shown to be useful in the treatment of the disease, particularly in patients without thymomas. No familial cases were observed.

[Facio-auriculo-vertebral syndrome: description of a case]. / Sindrome facio-auricolo-vertebrale: descrizione di un caso.

The authors report the case of a fourteen months old girl who presented with emisomal, uropoietic and vertebral anomalies associated with neurologic handicap. These features can be considered characteristic of facio-auriculo-vertebral spectrum. This syndrome was not frequently described in Italian pediatric literature.

[Difficult diagnosis in a case of hematuria (Berger's disease)]. / Un caso di ematuria (da M. di Berger) di difficile inquadramento diagnostico.

A seven years old boy presented with gross hematuria associated with clots and transitory renal insufficiency. The urinary sediment showed only monomorphic red blood cells. Subsequently urinary sediment completely modified: namely only dysmorphic red blood cells and hyaline granular casts were found and within a week renal function become normal. The clinical diagnosis of Berger's disease was possible only with renal biopsy.

[A case of septic arthritis with a peculiar clinical presentation]. / Su un caso di artrite settica con particolare presentazione clinica.

The authors report a case of tibial-tarsal septic arthritis caused by a Group A Beta Haemolytic Streptococcus. The primitive pathologic process was an erysipelas with an unusual localization originally of difficult interpretation.