[Takayasu's disease: interest in methotrexate treatment]. / Maladie de Takayasu: intérêt du traitement par méthotrexate.

UNLABELLED: Takayasu's disease is a nonspecific aortic arteritis that affects mostly young women and sometimes children. Usual treatment consists of early and prolonged steroids. Some patients do not respond to this treatment, become steroid-dependent or suffer from side effects. We report a case in which methotrexate proved to be effective. CASE REPORT: A 6-year-old girl presented with Takayasu's disease with elevated blood pressure of renovascular origin. Corticosteroids controlled the inflammatory syndrome but not the renal involvement and stopped the growth. Methotrexate (10 mg/m2/week) resulted in the control of the disease, the reduction of steroids and normal growth. CONCLUSION: In Takayasu's disease, steroids should be given as first-line therapy. In case of failure, side effects or steroid dependency, small doses of methotrexate may facilitate the disease's control and weaning from the steroids.

[(P)FAPA syndrome: value of cimetidine]. / (P)FAPA syndrome: intérêt de la cimétidine.

UNLABELLED: The (P)FAPA syndrome (periodic fever, adenitidis, pharyngitis, aphthous stomatitis) was described in 1987. The etiology of this periodic syndrome remains unknown. We report three new cases. CASE REPORTS: Three girls, aged from 23 months to eight years, developed (P)FAPA. The other causes of periodic fevers were eliminated and the various treatments (antibiotics, antipyretics, nonsteroidal anti-inflammatory agents) proved ineffective. The repetition of the periodic bouts resulted in depressive disorders, absenteeism from school and a drop in weight in the youngest patient. Two of them suffered a sinusal involvement (chronic sinusitis, polyp) and had an increase in the level of immunoglobulin A. In all three cases, cimetidine at a dose of 20 mg/kg/d was well tolerated and resulted in a disappearance of the periodic fevers. CONCLUSION: Cimetidine, as an immunomodulating agent, appears to be beneficial in the in-depth treatment of (P)FAPA syndrome.

Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologie und Hämatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI).

Diamond-Blackfan anemia (DBA) is a constitutional disease characterized by a specific maturation defect in cells of erythroid lineage. We have assembled a registry of 229 DBA patients, which includes 151 patients from France, 70 from Germany, and eight from other countries. Presence of malformations was significantly and independently associated with familial history of DBA, short stature at presentation (before any steroid therapy), and absence of hypotrophy at birth. Two hundred twenty-two patients were available for long-term follow-up analysis (median, 111.5 mo). Of these individuals, 62.6% initially responded to steroid therapy. Initial steroid responsiveness was found significantly and independently associated with older age at presentation, familial history of DBA, and a normal platelet count at the time of diagnosis. Severe evolution of the disease (transfusion dependence or death) was significantly and independently associated with a younger age at presentation and with a history of premature birth. In contrast, patients with a familial history of the disease experienced a better outcome. Outcome analysis revealed the benefit of reassessing steroid responsiveness during the course of the disease for initially nonresponsive patients. Bone marrow transplantation was successful in 11/13 cases; HLA typing of probands and siblings should be performed early if patients are transfusion dependent, and cord blood should be preserved. Incidence of DBA (assessed for France over a 13-y period) is 7.3 cases per million live births without effect of seasonality on incidence of the disease or on malformative status. Similarly, no parental imprinting effect or anticipation phenomenon could be documented in families with dominant inheritance.

Immune thrombocytopenic purpura after recombinant hepatitis B vaccine: retrospective study of seven cases.

Recombinant hepatitis B vaccine is usually well tolerated. Clinical and laboratory test manifestations with immunologic mechanisms have nonetheless been described following use of this vaccine. We retrospectively report 7 cases of thrombocytopenia occurring within 3 months (7 weeks on the average) of 1 or following injections of recombinant hepatitis B vaccine. Four boys and 3 girls, average age 12 y, were involved. Three had a history of immune thrombocytopenic purpura. Four had haemorrhagic manifestations. The haemogram showed thrombocytopenia (24 x 10(9)/l on the average) without alterations of the other lines. Infectious and immune aetiologies were excluded in all cases. The course varied after treatment by corticosteroids, high-dose intravenous immunoglobulin, or both. After describing the different manifestations subsequent to recombinant hepatitis B vaccination, we discuss post-vaccinal thrombocytopenias (vaccines in question, mechanisms) and the reality of this entity.

[Superior sagittal sinus thrombosis in children during the first year of life: clinical aspects, imaging and development]. / Thromboses du sinus longitudinal supérieur chez l'enfant au cours de la première année de vie: aspects cliniques, imagerie et évolution.

BACKGROUND: Thrombosis of the intracranial sinuses and veins may be septic or aseptic, and in the latter case are often due to alteration in hemodynamics. It may also be seen in young babies without known predisposing factors. PATIENTS: From 1988 to 1994, 11 children had cerebral venous thrombosis (longitudinal sinus) in the first year of their life. Their ages ranged from two days to 11 months. Transient seizures, lethargy, pseudo tumor cerebri were the first clinical symptoms. The presence of longitudinal sinus thrombosis was suggested by unenhanced CT scan, confirmed by colour doppler flow imaging and magnetic resonance angiography, with absence of blood flow in the longitudinal sinus. Repeated doppler flow imaging showed thrombus resolution within 3 weeks. Thrombosis was associated with predisposing factors in seven cases and appeared idiopathic in the four others. CONCLUSION: Diagnosis of longitudinal sinus thrombosis can be made more accurately and noninvasively by colour doppler flow and angio-MRI. Treatment with anticoagulants appears unnecessary and dangerous in idiopathic forms.

Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter.

A girl with severe Becker muscular dystrophy and apparently normal chromosomes had a heterozygous deletion for exons 51, 52, and 53 of the dystrophin gene. This deletion was transmitted by her mother, who was unaffected. To differentiate the normal and the deleted X chromosomes, fluorescence in situ hybridization (FISH) was applied to metaphase chromosomes, using probes for both exons 51 and 52, which are only 388 and 113 base pairs long, respectively. FISH signals were observed in one or both chromatids of one chromosome, but never on both chromosomes, suggesting the lack of hybridization on the deleted X chromosome. Using 5-bromodeoxyuridine incorporation to differentiate the late (inactive) and the early replicating (active) X chromosomes, 77% of the signals were observed on the active X chromosomes in the mother. This percentage was only 18% in the daughter, suggesting that skewed inactivation of the X chromosomes was responsible for the phenotypic differences.

Alveolar soft part sarcoma. A rare tumor of unusual evolution in pediatrics.

PURPOSE: A case of alveolar soft part sarcoma of the arm with metastatic pulmonary miliaria is reported in a 12-year-old girl. RESULTS: Although the size of the metastases increased greatly and progressively for 9 years with no improvement under chemotherapy, the patient's general condition remained good. CONCLUSIONS: The course in pediatric oncology of this rare mesenchymatous tumor is very unusual; the histologic pattern is characteristic but the histogenesis remains unclear. The treatment of choice is tumoral excision. Other therapies involving secondary deposits are far from satisfactory, and the prognosis is poor because of the high rate of metastases.

[Contribution of nuclear magnetic imaging in the diagnosis of Hallervorden-Spatz syndrome]. / Apport de l'imagerie en résonance magnétique nucléaire au diagnostic de syndrome d'Hallervorden-Spatz.

BACKGROUND: The manifestations of the Hallervorden-Spatz disease (HSD) usually appear during childhood or in adults. They are not specific and magnetic resonance imaging (MRI) has improved its diagnosis. CASE REPORT: A girl developed progressive motor difficulties, dystony, rigidity, spasticity and mental deterioration, beginning at the age of 18 months. Examination at the age of 13 years showed pigmentary degeneration of the retina and acanthocytosis. The CT scan showed symmetrical calcifications in both globus pallidus. The MRI showed heterogeneity of the globus pallidus, decreased signal intensity of magnetic resonance T2-weighted images with an aspect of "tiger eye". CONCLUSION: The MRI show peculiar signs that may help in the diagnosis of HSD, and eventually in genetic counselling.

[Accessory thymus in cervical ectopy: apropos of a case]. / Thymus accessoire en ectopie cervicale: à propos d'un cas.

Cervical tumors of thymic origin are considered to be uncommon lesions in the differential diagnosis of neck masses. They can be either cystic or solid. The authors present one case of solid cervical thymic tumor in a 2 month-old baby. The embryogenesis of the thymus explains the cervical location of these tumors. Theories of physiopathology are presented. The clinical presentation is variable and their nature is often recognized only upon surgery and preoperative pathologic examination. Some cases of thymoma and respiratory complications resulting from ectopic thymus have been described in the literature, so that total excision of the mass must be performed. This lesion may be more common than suggested in the literature.

[Infantile spasms associated with a brain tumor]. / Spasmes infantiles associés à une tumeur cérébrale.

BACKGROUND: Infantile spasms are exceptionally associated with a focal cerebral lesion such as a brain tumor. CASE REPORT: A 15 month-old girl was treated with hydrocortisone and valproic acid for infantile spasms that had appeared a few days earlier. Her psychomotor development was considered normal and the CT scan was normal. Clinical symptoms disappeared within 10 days and the EEG became normal except for a few epileptiform discharges in the frontal areas. The girl developed partial seizures at the age of 5 years. Imaging techniques showed a brain tumor in the right frontal lobe. Surgical excision was followed by radiation therapy. Analysis of the tumor showed an astrocytoma. The girl is normal 18 months after intervention. CONCLUSION: It is difficult to determine a relationship between the infantile spasms and the brain tumor in this case. The moderately asymmetrical pattern of the EEG after infantile spasms, the fact that these spasms appeared relatively late and the persistence of discharges, lead to repeated specialized investigations.

[Mirror movements. Preliminary therapeutic study]. / Motricité en miroir. Etude thérapeutique préliminaire.

BACKGROUND: Mirror movements are a specific type of synkinesis. The pathogenesis is unknown. Three types have been identified: 1) a hereditary form, 2) a form associated with other neurological diseases, 3) a sporadic form, as is this case. CASE REPORT: A girl was born at term after cesarean section for fetal anoxia. Psychomotor development seemed normal, but mirror movements of fingers, hands, wrists and forearms were noticed when she was 8-9 months old. There were no other neurological manifestations and the imaging techniques were normal. Rehabilitation was begun when she was 20 months old. The girl is now 4 1/2 years old and writes, draws and cuts up normally. CONCLUSIONS: Mirror movements that are not associated with other neurological disorders usually remain unchanged and can be a professional handicap for adults. Prolonged rehabilitation offers a good functional prognosis.

[Hip diseases and growth hormone deficiency]. / Maladies de hanche et déficit en hormone de croissance.

Five cases of hip disease (3 Perthes disease, 2 slipped capital femoral epiphyses) occurring in growth hormone deficient children are described. Relationships with the endocrine deficiency and its treatment are discussed. Growth hormone treatment does not appear to be a causative factor.

[Insulin resistant diabetes, acanthosis nigricans and Bartter's syndrome, a fortuitous association?]. / Diabète insulinorésistant, acanthosis nigricans et syndrome de Bartter, une association fortuite?

The authors have followed during 10 years a girl with Bartter's syndrome who developed severe insulin resistance with acanthosis nigricans. In this rare association, hypokalemia and renal failure did not appear to be relevant factors triggering the onset of diabetes. The therapeutic difficulties in this case have still not been resolved.

[Cardiac failure by major arterial hypertension secondary to nephroblastoma]. / Insuffisance cardiaque par hypertension artérielle majeure secondaire à un néphroblastome.

The authors report on the case of a 7 week-old boy, in whom a renal mass was discovered after general symptoms were observed. Within 48 h, cardiac failure secondary to systemic arterial hypertension occurred, requiring intensive care. After a few days of mechanical ventilation and alternating elevated and low blood pressure, improvement was obtained with captopril and frusemide enabling further investigations to be carried out which lead to the diagnosis of Wilms tumor. During left-sided nephrectomy, elevated renin from the left renal vein was found. The post surgical course was excellent. Several authors have reported on the association between arterial hypertension and nephroblastoma as being the result of hyperreninism due to hilar compression; however severe hypertension was uncommon. Renin activity determination from the tumoral tissue had led to a different interpretation, ie primary hyperreninism: in the case of mesoblastic nephroma, only the non tumoral but compressed tissue contains a large quantity of renin; in the case of nephroblastomas, only the tumoral tissue contains renin. The question now is whether all or only certain nephroblastomas secrete renin.

[Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia]. / Déficit en bêta cétothiolase: un cas d'acidocétose avec hyperglycinémie.

Regarding a case of beta-ketothiolase deficiency revealed by ketoacidosis with hyperglycinemia, the authors show the way to diagnose and to treat this disease. Ketoacidosis without hyperglycemia or lactacidemia suggested this diagnosis. Gas chromatography-mass-spectrography revealed unusual urinary excretion of metabolic products of isoleucine. The enzymological study of fibroblasts confirmed the diagnosis. The treatment of acute episodes consisted of acidosis control and exclusive glucides intake before diagnosis. Afterwards, a controlled proditic diet and L-carnitine must be given and fasting must be avoided.