[Adult coeliac disease, epilepsy and cerebral calcifications. A case report]. / Malattia celiaca dell'adulto, epilessia e calcificazioni cerebrali. Descrizione di un caso clinico.

Coeliac disease has a prevalence of between 1/300 and 1/2000 in Europe. A net increase has been observed in the past few years and has been correlated with the greater attention focused on this pathology. The clinical signs may be heterogeneous and their onset may occur at any age. In addition to the classic presentation of the typical malabsorption syndrome, an ''atypical'' presentation has been described, especially in ''adults'', with more frequent involvement of extraintestinal sites and more often in a mono/paucisymptomatic form. The classic variety of coeliac disease is currently thought to be merely the tip of an iceberg whose submerged parts are represented by the subclinical variations, correlated clinical syndromes not yet fully identified and an asymptomatic variety (silent, latent or potential) characterised by various degrees of permanent or transient diet-related alterations to intestinal mucosa. Recently, the association between coeliac disease and epilepsy was described in patients with bilateral occipital calcifications. This study reports the case of a 36-year-old man with manifestations of late onset coeliac disease after a long history of epilepsy starting in infancy and associated with cerebral calcifications.

[Melkersson-Rosenthal syndrome. Presentation of a clinical case and review of the literature]. / Sindrome di Melkersson-Rosenthal. Presentazione di un caso clinico e revisione della letteratura.

Melkersson-Rosenthal syndrome is a rare form of hereditary angioedema characterised by a triad of symptoms of which incomplete (oligo- or monosymptomatic) forms have been described, frequently associated with dysreactive diseases or neoplasia. The authors describe the case of a 48-year-old man with an incomplete form which was successfully treated with steroids and, after a careful and detailed revision of the literature on the subject, they make a number of etiopathogenetic, histopathological, clinical and therapeutic comments.

[The clinical and echocardiographic parameters at rest and during mental arithmetic stress in preadolescent subjects with a hypertensive parent]. / Parametri clinici ed ecocardiografici basali e durante stress mentale aritmetico in soggetti in età preadolescenziale con genitore iperteso.

Previous studies have showed that a genetic predisposition and/or a family history of essential hypertension may play a significant role in the development of cardiovascular changes in borderline hypertensive patients. Moreover, mental stress has been identified as contributing to the development of cardiovascular disease. The aim of this study was to compare the possible changes in blood pressure and Doppler echocardiographic parameters in resting and during mental arithmetic stress in 21 children with a hypertensive parent (Group I) and 21 age-matched children with normotensive parents (Group II), similar for body mass index, alimentary and life habits, and not differing in resting blood pressure, heart rate and Doppler echocardiographic parameters. Mass index was slightly but not significantly high in Group I with respect to controls. During mental stress only in the children with a family history of hypertension there was a significant increase (p < 0.02) in systolic blood pressure. A positive relation between the increase in systolic blood pressure and end-diastolic thickness of interventricular septum and posterior wall was observed in the same group. In addition a close relation (p < 0.05) between mass index and end-systolic left ventricular stress at rest was evidenced, whereas a negative relation (p < 0.03) between the increase in systolic blood pressure on one side and the early peak diastolic filling velocity (Vmax E) and the ratio of early to atrial peak diastolic filling velocity (Vmax E/Vmax A), on the other side, were found.(ABSTRACT TRUNCATED AT 250 WORDS)

[A sporadic case of vitamin D-resistant rickets in an adult]. / Un caso sporadico di rachitismo resistente alla vitamina D nell'adulto.

A case of probably sporadic vitamin D-resistant rickets is reported. The patient had suffered from rickets of average intensity in childhood, and the signs had persisted into his adult life. Serious symptoms due to phosphate depletion and marked osteomalacia, however, did not appear until he was 56. A brief description of the differential diagnosis and a summary of the literature on this uncommon form are followed by an account of the gradual biochemical and clinical improvement observed after treatment with phosphates and vitamin D.