An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma.

The incidence of pediatric adrenal cortical carcinoma (ACC) in southern Brazil is 10-15 times higher than that of pediatric ACC worldwide. Because childhood ACC is associated with Li-Fraumeni syndrome, we examined the cancer history and p53 status of 36 Brazilian patients and their families. Remarkably, 35 of 36 patients had an identical germ-line point mutation of p53 encoding an R337H amino acid substitution. Differences within intragenic polymorphic markers demonstrated that at least some mutant alleles arose independently, thus eliminating a founder effect. In tumor cells, the wild-type allele was deleted, and mutant p53 protein accumulated within the nuclei. Although these features are consistent with Li-Fraumeni syndrome-associated adrenal tumors, there was no history of increased cancer incidence among family members. Therefore, this inherited R337H p53 mutation represents a low-penetrance p53 allele that contributes in a tissue-specific manner to the development of pediatric ACC.

Extrapyramidal disorder secondary to cytomegalovirus infection and toxoplasmosis after liver transplantation.

A boy underwent liver transplantation for postnecrotic cirrhosis secondary to Wilson's disease. The patient had no neurological clinical manifestations prior to the transplantation. The patient developed dysarthria, dysphagia, spasticity, rigidity, and intention and resting tremor of all extremities. Cranial computerized tomography revealed hypodensity of the thalamus, basal ganglia and external capsule. Anti-cytomegalovirus IgM became positive. At autopsy, there were severe pathological changes at the thalamus and basal ganglia.

Adrenocortical carcinoma in children: a study of 40 cases.

Adrenocortical carcinoma (ACC), a very rare tumor in children in the United States, is apparently more common among Brazilian children. We reviewed the medical records of 40 children whose disease was diagnosed between 1966 and 1987. There were 12 boys and 28 girls; their median age was 3.9 years (range, 1 day to 15.7 years). Virilization was the most common clinical sign (37 of 40); other signs included abdominal mass, deepened voice, plethora, hypertension, seizures (seven patients) and, rarely, weight loss (two patients). The median time between first signs or symptoms and diagnosis was 1.4 years (range, 3 days to 5 years). Four of 33 tumors were classified as benign according to the Weiss, van Slooten, or Hough systems (tumor tissue was unavailable for seven patients). Tumors were completely resected in 26 of 38 patients; of those, 17 are in continuous complete remission, five relapsed, and four have been lost to follow-up. One patient, who had local recurrence, has been in a third complete remission for 18+ months after tumor resection and chemotherapy (cisplatin and etoposide). Of the remaining 14 patients, 11 died of progressive disease, the diagnosis was confirmed at autopsy in two, and one has been lost to follow-up. Univariate analysis disclosed that age greater than or equal to 3.5 years at diagnosis, interval of greater than or equal to 6 months between first symptoms and diagnosis, tumor weight greater than 100 g, tumor size greater than 200 cm3, and high levels of urinary 17-ketosteroids (17-KS) and 17-hydroxycorticosteroids (17-OH) were associated with an unfavorable outcome. Multivariate analysis disclosed that only a tumor size greater than 200 cm3 independently identifies those patients with an unfavorable prognosis. Among the variables known before surgery, age, and the interval between first symptoms and diagnosis were important predictors of outcome. Our data suggest that some children with ACC and certain clinical characteristics are at high risk of primary treatment failure and, therefore, are good candidates for investigational adjuvant therapy.

Niveis de IgE total no soro e contagens de eosinofilos em criancas com enteroparasitoses: efeito do tratamento anti-helmintico. / IgE levels in serum and eosinophil counts in children with enteroparasitosis: effects of anti-helminthic treatment

Niveis sericos de IgE e contagens de eosinofilos no sangue periferico foram determinados em criancas com helmintiases. A maioria das infeccoes nao eram intensas.Como era esperado, os niveis de IgE e contagens de eosinofilos estavam elevados nas criancas parasitadas quando comparados a um grupo-controle. Houve grande variabilidade nos valores encontrados; mas, individualmente, a ancilostomiase provocou maior eosinofilia e niveis mais altos de IgE. O tratamento com mebendazol foi eficaz e resultou numa diminuicao dos niveis de IgE e eosinofilia, mais acentuada nos casos cujos valores eram mais elevados antes do tratamento. Nao houve correlacao entre as contagens de ovos nas fezes com as contagens de eosinofilos e os valores de IgE serica. Este e o primeiro estudo controlado em criancas brasileiras, analisando o efeito do tratamento sobre os niveis de IgE e eosinofilia em helmintiases

Infeccoes parasitarias: correlacao com niveis de proteinas plasmaticas e desenvolvimento pondero-estatural. / Parasitic infections: correlation with levels of plasma proteins and weight-height development

Avaliamos a incidencia de parasitoses intestinais, bem como os niveis de proteinas totais, albumina e hemoglobina circulantes e o desenvolvimento pondero-estatural de meninos em uma instituicao para menores. A incidencia de parasitoses intestinais entre as criancas foi de 90,2%. As infeccoes helminticas nao eram intensas, conforme a contagem de ovos nas fezes. Os niveis de albumina e proteinas totais nos grupos com infeccao ou nao,eram significativamente mais baixos do que o considerado normal para criancas da mesma faixa etaria. Nao havia diferenca nestes parametros, para criancas com baixa estatura comparadas ao grupo todo. A media da estatura dos casos divididos em grupos etarios estava sempre abaixo do 50o. percentil. Em 19 casos, a estatura encontrava-se abaixo do 3o. percentil.Com os dados apresentados nao podemos concluir que a presenca de parasitas intestinais fosse a unica causa da hipoproteinemia e do deficit estatural observado nas criancas estudadas

An ectodermal dysplasia syndrome of alopecia, onychodysplasia, hypohidrosis, hyperkeratosis, deafness and other manifestations.

A girl is reported with a hitherto apparently undescribed ectodermal dysplasia syndrome. The main findings include: alopecia, onychodysplasia, hypohidrosis, sensorineural deafness, skin with a tan color and hyperkeratosis (involving also plams and soles), unusual facies (with slight auricle and nose abnormalities), pectus excavatum, severe hyperopia, EEG abnormalities, and retarded bone age. The patient also presents mongoloid palpebral slanting, narrow palpebral fissures, bilateral esotropia, photophobia and dermatoglyphics with extensive ridge dissociation. The etiology is unknown but presumed to be genetic, possibly due to the homozygous state of an autosomal recessive mutation.

[Rubinstein-Taybi syndrome. Report of 2 cases]. / Sindrome de Rubinstein-Taybi. Relato de dois casos

Two non-inbred cases of Rubinstein-Taybi syndrome is two non-related sibships with a total of 16 sibs are reported. Clinical features are those classicaly reported. One of the patients (case 1) presents left post-axial polydactily and a history of hydramnion. The cariotype is normal in the other patient (case 2). Nothing is added in this paper as regards the etiology of the syndrome.