The frequency of high/moderate lipoprotein risk factor for coronary artery disease is significant in juvenile-onset systemic lupus erythematosus.

To determine the prevalence of dyslipoproteinemia on a large juvenile systemic lupus erythematosus (jSLE) cohort, we selected 40 patients after rigorous exclusion criteria. Lipoprotein levels were determinated after 12 hours fast and risk levels for CAD were defined by standards of the Brazilian Guidelines for dyslipoproteinemia according to US-NCEP. All individuals were under steroid therapy and chloroquine and 43% had active disease. Thirty patients (75%) had high-risk levels for CAD (23 isolated low HDL, while in seven subjects low HDL was associated to high TG in four, high LDL in one, high TG/LDL in one and high TC/LDL in one). Remarkably, overall analysis revealed that 85% patients were included in high/medium risk levels group (29% for TC, 29% for LDL, 88% for HDL, and 18% for TG) and these disturbances occured mainly in the first four years of disease. Unexpectedly, one-third of the patients presented two or more high/medium lipoprotein risk factors. Independently, active jSLE was associated to TG (OR = 3.2; P < 0.001) and had a tendency towards reduction on HDL (OR = 8.5; P = 0.056). Considering improvements on jSLE outcome, the increased frequency of high/medium lipoprotein risk levels for CAD reinforces the need of prevention measures in order to minimize deleterious effects of this disturbance.

Fractura del platillo tibial medial con trazo metadiafisiario helicoidal. Informe de un caso clínico / Metha-dyaphyseal helicoidal fracture of the medial tibial plateau

Las fracturas del platillo tibial representan el 8 por ciento de las fracturas en el adulto. Presentamos un caso clínico de una fractura de platillo tibial con trazo metadiafisario helicoidal en un paciente de 53 años de edad y revisamos la bibliografía en cuanto a la incidencia de éste tipo de fracturas en particular.

False-positive FDG-PET imaging of the thymus of a child with Hodgkin's disease.

During the evaluation of a child who had completed treatment for Hodgkin's disease, a PET study strongly suggested recurrent disease in the mediastinum. Biopsies were obtained and revealed normal thymic tissue only, with no evidence of recurrent disease. The ongoing difficulty in establishing accurate disease status in patients treated for Hodgkin's disease is discussed, along with recommendations for treating pediatric patient populations.

[Anti-beta-2-microglobulin antibodies in systemic lupus erythematosus]. / Estudo da antibeta-2-microglobulina sérica em portadores de lúpus eritematoso sistêmico.

The aim of this work was the study of 88 patients with SLE for clinical, laboratorial and demographical parameters. The patients sera were assayed for the presence of anti-beta-2-microglobulin antibodies by ELISA. These spectrofotometric results were converted in a standard-deviation unity in relation to the average of 29 control individuals values. It was established a cut-off of 2.5 standard-deviation in order to determine the limit of normality as well as the cut-off of 10 standard deviation was chosen in order to defined the higher values. Several statistical significant associations were observed between the anti-beta-2-microgobulin and the clinical and laboratorial parameters. The clinical applications of those associations were determined by the predictive value. It was only considered the values greater then 75%. The negative predictive values found in the lower cut-off were 92% to ANA (homogeneous-peripheral pattern), 89% to high levels CIC, 81% to mucocutaneous vasculitis and 80% to depressed CH50 levels. The positive predictive values found in 88% to high level of mucoprotein, 83% to mucocutaneous vasculitis, 83% to the onset-disease-time lower six years and 78% to limphopenia. Special attention may be paid to the high sensibility and specificity of the anti-beta-2-microglobulin test to some of the parameters in the evaluation of the disease activity, mainly in mucocutaneous vasculitis.

Transformation of congenital neutropenia into monosomy 7 and acute nonlymphoblastic leukemia in a child treated with granulocyte colony-stimulating factor.

A cytogenetically normal infant with Kostmann syndrome (severe congenital granulocytopenia) was treated with granulocyte colony-stimulating factor, which resulted in a rapid improvement in his neutrophil count and a resolution of recurrent infections. After 11 months of therapy, splenomegaly developed, with thrombocytopenia, anemia, circulating nucleated erythrocytes, and acquired monosomy 7, which evolved during a period of 7 months into acute nonlymphoblastic leukemia. The use of granulocyte colony-stimulating factor in patients with congenital marrow failure disorders may induce or hasten the onset of a malignant transformation.

Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome.

A fetus with absent radii in both forearms was discovered on routine ultrasound examination performed at 18 weeks of pregnancy. No other significant abnormalities were found, and no signs of haemorrhage were detected. Serial ultrasound examinations revealed no evidence of fetal internal bleeding. At 37 weeks of pregnancy, a CBC obtained by cordocentesis under ultrasound guidance confirmed the diagnosis of thrombocytopenia absent radii (TAR) syndrome. Apheresis platelets were transfused into the umbilical vein to correct the thrombocytopenia and was followed by an uncomplicated delivery. No bleeding was encountered during the remainder of the baby's neonatal course. We conclude that TAR syndrome can be readily identified prenatally on sonogram, and if severe thrombocytopenia is confirmed by cordocentesis, platelets should be transfused to diminish the risk of serious internal bleeding during and immediately after delivery.

Does rapidly progressive iron overload in a young girl with sideroblastic anemia also signify the presence of hereditary hemochromatosis?

A severely anemic 3-year-old girl with refractory sideroblastic anemia and fulminant, fatal hemochromatosis is described. The patient had transfusion-dependent anemia with clinical cardiac, liver, and endocrine dysfunction that resulted from iron loading. The patient was minimally transfused, and deferoxamine chelation was started at age 34 months. Despite treatment, the patient died at age 46 months as a result of severe iron overload. Sideroblastic anemia and iron overload in childhood are reviewed, and a pathophysiologic mechanism for the patient's clinical course is postulated.

Squamous cell carcinoma in the sacrococcygeal area: a case report and review of the literature.

Squamous cell carcinoma is a rare malignancy in the pediatric age group. We describe a 12-year-old boy with squamous cell carcinoma of the sacrococcygeal region. This is the first reported case of that pathology in this region. The patient was treated with surgery, chemotherapy and radiation therapy and is now free of disease 3 years later. The etiology of sacrococcygeal squamous cell carcinoma is unclear, and its possible pathophysiology in relation to its location is discussed.

Primary ocular recurrence of leukemia following bone marrow transplant.

A patient with acute lymphoblastic leukemia (ALL) who had undergone an allogeneic bone marrow transplant that included high-dose chemotherapy and total body radiation without eye shielding, sustained an isolated relapse of her disease in the iris. A review of ocular leukemic disease is discussed.

an unusual family cancer syndrome manifested in young siblings.

Three siblings whose mother had an ovarian mass excised as a teenager all developed malignancies in late childhood. Two were diagnosed as having malignant germ cell tumors of the ovary, whereas the third was found to have a soft tissue sarcoma. No underlying familial disease or constitutional chromosomal aberration has been detected and no known carcinogenic chemical exposure has been identified. All three children have been successfully treated with chemotherapy and are doing well off treatment. This is the first family cancer syndrome reported to have an association of ovarian germ cell tumors with embryonal sarcoma.

Marrow hypoplasia associated with congenital neurologic anomalies in two siblings.

Two siblings with congenital neurologic structural anomalies and delayed-onset selective bone marrow hypoplasia in a previously undescribed constellation of symptoms are presented. Differences between these cases and other well known syndromes are discussed. The importance of this association is the implication that children with congenital neurologic abnormalities may be at increased risk for the development of hypoplastic hematopoietic conditions.

Breast nodules as the initial site of relapse in childhood leukemia.

Two children with acute monoblastic leukemia in remission developed breast nodules that were the initial sites of disease relapse. Shortly after the appearance of disease in this site, the children developed marrow recurrence and, despite additional treatment, rapidly deteriorated and died from pancytopenia-related complications. The importance of careful breast examination is stressed as part of the surveillance physical examination for children with monoblastic leukemia.

Danazol for children with immune thrombocytopenic purpura.

Ten patients with steroid-dependent or refractory immune thrombocytopenic purpura were treated with danazol in an attempt to improve their platelet counts. Nine of the ten children exhibited an excellent initial response to the drug, with five achieving a complete, unmaintained remission. Two others were able to have their prednisone doses tapered with a resultant disappearance of steroid-induced adverse effects. No significant adverse effects of danazol were noted. Danazol seems to be effective in the treatment of children with immune thrombocytopenic purpura and would warrant additional studies to determine its proper role in the management of this common pediatric ailment.

Diamond-Blackfan syndrome: an unusual cause of hydrops fetalis.

An unusual case of Diamond-Blackfan syndrome whose initial presentation was hydrops fetalis is presented. Diamond-Blackfan syndrome and the pathophysiology of hydrops fetalis in severely anemic infants are briefly reviewed.

Renal cell carcinoma in patients with tuberous sclerosis.

An adolescent with anemia and weight loss was found to have bilateral renal cell carcinoma (hypernephroma). Further investigation revealed an underlying tuberous sclerosis that had escaped previous clinical detection. Several reports of this association were subsequently found when the world's literature was reviewed. Physicians treating patients with tuberous sclerosis should be aware of the possible development of these renal malignancies in their patients.

Polycythemia in hypothyroid infants.

Twenty-three infants with congenital hypothyroidism were evaluated for the presence of anemia. Though no patient was found to be anemic, six (26%) had elevated hemoglobin levels, some with significant elevations. Pathogenesis of this finding is unclear, as none of the effects of thyroxine on erythropoiesis previously described would result in polycythemia. Pediatricians caring for hypothyroid infants should be aware of this association so as to be better prepared for any complication related to the hyperviscosity syndrome.