Wilson's disease in Sardinian population: The experience of a pediatric referral center.

Background And Objectives: Wilson's disease (WD) in children and adolescents is predominantly asymptomatic or oligo-symptomatic. The symptoms are nonspecific and difficult to distinguish from other hepatic or neuropsychiatric disorders. In this study, we present the experience of a pediatric referral center for WD diagnosis and treatment.

Second-generation antipsychotic and diabetes mellitus in children and adolescents.

Second generation antipsychotics (SGA) are used in children for the treatment of various psychiatric diseases, including pervasive developmental disorders. These drugs can cause metabolic effects as hyperglycemia and diabetes. A 16-year-old young-boy, diagnosed with autism, developed diabetes mellitus type 1 whilst he was on treatment with olanzapine (started 4 months before), clomipramine, valproic acid and lithium.

A distal renal tubular acidosis showing hyperammonemia and hyperlactacidemia.

Introduction: distal renal tubular acidosis (dRTA) presents itself with variable clinical manifestations and often with late expressions that impact on prognosis.

Case Report: A 45-day-old male infant was admitted with stopping growth, difficult feeding and vomiting after meals. Clinical tests and labs revealed a type 1 renal tubular acidosis, even if the first blood tests showed ammonium and lactate increase.

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.

Wilson's disease (WD), an autosomal recessive disorder of copper transport with a broad range of genotypic and phenotypic characteristics, results from mutations in the ATP7B gene. Herein we report the results of mutation analysis of the ATP7B gene in a group of 118 Wilson disease families (236 chromosomes) prevalently of Italian origin. Using DNA sequencing we identified 83 disease-causing mutations.

Epidemiology and prevention of rotavirus infection: an underestimated issue?

Rotaviruses (RVs) were found to cause human disease in 1973. They are the leading cause of severe gastroenteritis in infants and young children of <5 years of age worldwide and they are the cause of approximately half a million deaths each year. The impact of the disease on families and society (increased health care costs, lost productivity) is extremely significant and the incidence of gastroenteritis (RVGE) is similar both in industrialized and in developing countries.

Rapid identification of Wilson's disease carriers by denaturing high-performance liquid chromatography.

Background: Wilson's disease is an autosomal recessive disorder characterized by decreased biliary copper excretion and reduced copper incorporation into ceruloplasmin. The disease gene ATP7B maps to chromosome 13q14.3, contains 21 exons, and encodes a copper-transporting P-type ATPase.

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

Wilson disease (WD) in the Sardinian population has an approximate incidence of 1:7,000 live births. Mutation analysis of the WD gene in this population reported in our previous articles led us to the characterization of two common mutations and a group of 13 rare mutations accounting for the molecular defect of 8.5, 7.

Value of histochemical stains for copper in the diagnosis of Wilson's disease.

Aims: The histochemical demonstration of hepatic copper is important in the diagnosis of Wilson's disease (WD). Conflicting results have been published with regard to the ability of different histochemical methods to demonstrate copper storage in the liver. Therefore, we evaluated the diagnostic value of three available histochemical methods in a large series of patients affected by WD.

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

This study presents the update results of an ongoing project on the delineation of the spectrum of mutations at the Wilson disease (WD) gene in WD patients of Mediterranean origin. In studying 59 patients, of whom were 26 Continental Italians, 22 Sardinians, 9 Turkish, and 2 Albanians, we have found 31 novel and three known mutations. Of the novel mutations, 3 are deletions, two nonsense, 2 splice or consensus splice site, and 24 missense.

Congenital hepatic dysplasia from cytomegalovirus.

The Authors report on a case of liver dysplasia in a four-month-old infant affected by prenatal cytomegalovirus infection. Immunologic, histologic and ultrastructural studies suggest an embryopathic origin of the lesions.

[Acute disseminated histiocytosis X. Presentation of a case].

The AA. report a case of acute, diffuse histiocytosis X with an unfavourable course observed in a child of 33 months. The histological diagnosis, formulated on the basis of specimen taken from a skin nodule, was confirmed by ultrastructural observation of Birbeck bodies in the cytoplasm of proliferating Langerhans cells.

Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.

Wilson's disease, a rare autosomal recessive disorder, has been recently mapped to the long arm of chromosome 13 (q14.1). In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia.

[Osteomatosis of the skin. Presentation of 2 cases].

Osteomatosis cutis. Report of two cases. The AA.

[Syndactylia associated with multiple malformation syndromes. Observation of a new symptomatologic complex in 3 brothers].

Hand and feet malformations are often part of complex malformation associations. The present paper reports on a family whose three sibs (two males and one female) are affected with symmetric soft tissue syndactyly involving both fingers and toes, fifth finger clinodactyly, a pattern of dysmorphism including down slanting palpebral fissures, long flat nasal saddle, out turned nostril openings ("Greek warrior helmet"-like profile), dysplastic teeth, and, in addition, severe growth retardation, microcephaly, severe mental deficiency with immaturity of cerebral activity of EEG, hypergonadotropic hypogonadism and some skeletal anomalies. All cases show large secondary constriction in one of the chromosome 1 pair (1qh+).

[Cytogenetic and clinical aspects of Prader-Willi syndrome].

Two male nonconsanguineous cases (aged 4 years) of Prader-Willi syndrome are clinically and cytologically studied. Both had obesity, marked hypogonadism, reduced head circumference, psychomotor impairment, hypotonia, tooth decay, small hands and feet, immature EEG. Case 1 showed a "de novo" translocation 7;15 and case 2 showed a normal karyotype.

[Wiedemann-Beckwith syndrome in childhood].

A follow up examination was carried out in a 10 year old child who had been diagnosed as having Wiedemann-Beckwith syndrome soon after birth. Macrosomy was seen to persist and body asymmetry and some dysmorphic aspects had become more pronounced over the years. The presence of moderate mental deficiency had led to difficulty in social relationships.

[Aspects and behavior of x-ray computed tomographic studies in subacute sclerosing panencephalitis].

The authors reports cerebral Computerized Axial Tomography findings examined, in association with other diagnostic tests, in 5 cases of Subacute Sclerosing Panencephalitis in the acute phase and repeated in 2 of these patients later, during the state and terminal phases of the disease. Hypodensity of the white matter was the main sign of initial cerebral parenchymal involvement and an atrophic aspect was most indicative of the terminal phase. Moreover, it has been shown that associated with clinical symptomatology, immunologic data and EEG signs, cerebral Computerized Axial Tomography may offer the possibility for evaluating the nature and the evolutive stage of the disease and facilitate differential diagnosis from other degenerative encephalopathies.

Epidemiologic study of hepatolenticular degeneration (Wilson's disease) in Sardinia (1902-1983).

From 1902 to 1983, 68 cases of hepatolenticular degeneration (HLD) were discovered in Sardinia, with a mean frequency, in reference to number of live births, of 27.7 and a sex ratio of 1.83.

[Opsoclonic encephalopathy in childhood (Kinsbourne syndrome)].

Kinsbourne's syndrome (ataxia--opsoclonus--myoclonus) is described. The characteristics of this syndrome are: infections of the upper respiratory tract and enteric system and behavioural disturbances leading to the typical symptomatological triad. Various tests were carried out to determine the presence of neuroblastoma which is often associated (46%) to this syndrome.

Adrenal androgens in obese boys before and after weight loss.

The adrenal steroid secretion was studied in 6 prepubertal obese boys and 6 obese boys at the first stage of sexual maturation according to Tanner. Twelve normal boys, closely matched for age and stage of sexual maturation, were also studied as controls. Pregnenolone and dehydroepiandrosterone plasma levels were found to be significantly (P less than 0.

Sexual maturation and adrenal function in girls with thalassemia.

Adrenal steroid production was evaluated in 12 thalassemic girls aged between 18 and 22 years and at stage P1 of sexual maturation according to Tanner. The values found in these patients were compared with those in 12 normal girls of the same age at stage P4-5 of sexual maturation. Pregnelone, dehydroepiandrosterone, dehydroepiandosterone sulfate, progesterone, 17-OH-P, androstenedione, testosterone, dihydrotestosterone and estradiol were found to be significantly reduced (p less than 0.

[Cutaneous, radiologic and endocrinologic aspects of adrenoleukodystrophy].

A case of adrenoleucodistrophy in a 9 year old boy is reported. At onset, strabismo, skin hyperpigmentation, difficulty in deambulation and retarded writing and language capability were seen. The child's condition rapidly worsened.

A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia.

This paper reports a Sardinian patient, who was a compound heterozygote for silent beta-thalassaemia and high Hb A2 beta o-thalassaemia with the clinical phenotype of mild thalassaemia intermedia; alpha globin gene mapping showed a single alpha globin gene deletion. The reduced alpha globin chain output resulted in more balanced globin chain synthesis, which in turn accounted for the mild clinical phenotype.