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Medullary thyroid carcinoma (MTC) is a rare cancer during childhood. MTC is sporadic in approximately 80% of cases and hereditary in 20%. When hereditary, it can be associated with other endocrine neoplasias and/or typical nonendocrine diseases, thus configuring the multiple endocrine neoplasia (MEN) syndromes. Children with clinically obvious MTC belong to MEN 2A or 2B families, related to RET mutations. The standard treatment is total thyroidectomy and central neck dissection. However, treatment of advanced MTC has not yet been standardized, even if a new tyrosine kinase inhibitor specific to RET mutation has changed the outcome of such patients. Vandetanib plays a role in the treatment of children with metastatic, locally advanced and nonoperable MTC, with good tolerance. We report the 5-year treatment of an 11-year-old patient, with vandetanib and without thyroid surgery.

Malignant infantile osteopetrosis is a rare congenital disease characterized by a dysfunction of osteoclasts followed by an abnormal bone densification. We report the case of a 5-month-old infant in whom this disease was suspected because of the clinical (hepatosplenomegaly, gingival hypertrophy), hematological (pancytopenia and hypocalcemia), and radiological criteria (abnormal bone density, periosteal reaction). The genetic investigation confirmed the diagnosis. Compound heterozygous mutations in the CLCN7 gene were identified, including an as yet undescribed mutation. The second mutation had already been described as being responsible for severe and irreversible neurological damage in patients with osteopetrosis. Since this patient presented severely delayed development, he was not eligible for bone marrow transplantation.

Injection site reactions (ISRs) are quite common side effects defined by a local adverse drug reaction directly caused by a vaccine. Twenty-four hours after an intramuscular injection (in the deltoid muscle) of the diphtheria, tetanus, acellular pertussis, inactivated poliomyelitis, Haemophilus influenza type b (DTPCa-Hib) combined vaccine, a 3-year-old boy developed fever. A few hours later, local redness and swelling appeared at the injection site, with rapid extension to the entire limb, it was pain-free, and no other clinical anomalies were present. The patient received intravenous antibiotics for suspected cellulitis. The progression was favorable in 12h (apyrexia and decreased limb swelling), allowing the intravenous antibiotic treatment to be discontinued. Since the child was in excellent general health and recovery was fast, an ISR was diagnosed. Extensive limb swelling is frequent, mostly after the fourth dose of DTPCa-Hib. Deltoid muscle injection of DTP vaccine increases the risk of ISR compared to injection in the thigh, before the age of 3 years. The introduction of acellular pertussis vaccine decreased the risk of general side effects but may increase the risk of ISR. These reactions disappear with symptomatic treatment and do not contraindicate the product.

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic syndrome that predisposes patients to infections caused by weakly virulent mycobacterial species, such as bacillus Calmette-Guérin (BCG) vaccines and nontuberculous environmental mycobacteria in children free of classical immunodeficiencies. This syndrome consists of impaired antimycobacterial immunity (axis IL12/INF-γ) constituting a new immune deficiency and outlining its major role in mycobacterial immunity. We report a new case of MSMD through the observation of a young girl with a disseminated infection due to Mycobacterium avium. The molecular defect was 2 autosomal recessive mutations of the IL12Rβ1 gene (gene encoding for the β1 chain of the IL12 receptor) leading to the absence of the IL12 receptor on the activated T lymphocytes' surface. IL-12RB1 deficiency is the most common genetic etiology of MSMD. Today, there are 6 MSMD-causing genes, leading to 13 distinct genetic disorders. The clinical phenotype differs between patients. The description of the molecular and immunological basis of this syndrome has allowed us to explain the pathophysiology of antimycobacterial immunity and is essential to understanding and managing these diseases.

Non-typhi Salmonella are responsible for severe invasive infections in children with sickle cell disease, with osteoarticular locations that can affect short- and long-term outcomes. We describe the cases of 2 children with sickle cell disease who presented paucisymptomatic Salmonella osteoarticular infections on returning from North Africa. Progression was favorable in both cases after appropriate systemic antibiotic therapy, although one Salmonella was multidrug-resistant. Invasive salmonellosis remains rare in France, but, because of its severity, it should be suspected in any patient with sickle cell disease presenting fever, especially in the context of recent trips in Africa countries. Early clinical diagnosis is essential to start appropriate empirical treatment without waiting for bacteriological results.

The association of lymphoma and autoimmune manifestations has been predominantly studied in adults affected by non-Hodgkin lymphoma. Few publications exist in the literature concerning Hodgkin lymphoma, particularly in children and adolescents. The objectives of this study were to define the characteristics of the link between Hodgkin disease and autoimmunity in childhood. The present 25-year retrospective study was conducted in all centers affiliated with the French Society of Paediatric Oncology (SFCE). Eleven children with Hodgkin disease presented manifestations of disimmunity preceding or following their diagnosis. Four patients had thrombocytopenic purpura, the remaining 7 each had a different autoimmune pathology: lupus syndrome, antiphospholipid syndrome with transient ischemic attack, Evans syndrome, leukocytoclastic vasculitis, autoimmune hemolytic anemia, autoimmune thyroiditis, and juvenile idiopathic arthritis. Lymphoma relapse occurred in 3 patients. Two children died, death being directly attributed to the autoimmune disease in 1 case. Our data suggest that development of autoimmunity is related to significant morbidity. Possible pathophysiological mechanisms include lymphocyte proliferation secondary to chronic inflammation, cell-mediated immune deficiency in Hodgkin disease, molecular mimetics, and antineoplastic phenomena are discussed. A study with a larger patient population is needed to identify the group of children at high risk of autoimmunity for whom additional investigations and modified therapy may be indicated.

The population of survivors of childhood cancer is currently growing. Studies from other countries have shown an increased risk of late mortality. In order to measure this risk within a French cohort, the mortality of children who had survived five years from a cancer diagnosis were compared to the mortality of the general population, according to follow-up interval and cancer and treatment characteristics.The study population consisted of 635 children diagnosed with cancer before the age of 15 who had survived at least five years, and were registered in the Rhone-Alpes region cancer registry from 1987 to 1992. Mortality was compared with general population rates of the Rhone-Alpes region to assess age and sex standardized mortality ratio (SMR) and absolute excess risk of death.The median follow-up of children was 14.0 years. Among the 42 observed deaths, 71.4% were attributed to a recurrence of the original cancer, 9.5% to a second cancer. The 15-year cumulative risk of death, all causes, was 7.1%. The overall mortality of the cohort was 20.7 fold greater than the general population (95% CI: 14.9-27.9), and the absolute excess risk of 6.9 per 1000 persons-years. The long term excess-mortality was higher in case of recurrence of original cancer (SMR=99.9, 95% CI: 67.9-141.9, absolute excess risk 35.4 per 1000 persons-years); it was raised during the five to nine years follow-up interval after diagnosis (SMR=33.8, 95% CI: 23.2-47.3) mainly due to the primary malignancy, and decreased after (10-14 years follow-up interval SMR=6.5, 95% IC 2.4-14.2).The late mortality of childhood cancer is significantly increased during the five to nine years following diagnosis and decreases after, but the cohort follow-up has to be extended in order to assess outcome beyond 15 years after diagnosis.

International audience; Carcinoid tumors are the most common endobronchial tumor in the pediatric population, and represent a rare cause of airway obstruction. The authors report two cases of boys aged 10 and 11 years old, who presented with a 12-month history of recurrent pneumonia. Bronchial endoscopy showed an endobronchial tumor. Chest CT-scan identified local extension and lung-associated lesions; octreoscan was performed to detect distant metastases. Histopathological study concluded in typical carcinoid tumor. The outcome after surgical conservative resection is uneventful with a follow-up of 7 and 26 months. Bronchial tumors must be considered in children with recurrent pneumonia or persistant respiratory symptoms, and require CT scan and bronchial endoscopy for their diagnosis.

Cancer is rare in children, and pediatric malignancies represent only 1% of all cancers.The cure rate is high and increasing, and ongoing data collection is therefore warranted.Here we report the incidence and survival rates of childhood cancers between 1987 and 1999 in the Rhône-Alpes region of France.A total of 1945 cases were recorded during the study period, with an average of 149.6 new cases per year. The approximate incidence rate was 134.1/10(6) per year and the age-standardized incidence rate was 139.2/10(6) per year. The histological distribution and 5-year survival rates were respectively 30.2 and 73% for leukemia, 12.3 and 91.6% for lymphoma, 24.7 and 60.1% for CNS tumors, 9.1 and 71.1% for neuroblastoma, 2.5 and 94.1% for retinoblastoma, 5.8% and 89.9% for renal tumors, 1 and 75% for liver tumors, 6.1 and 60.9% for bone tumors, 4.1 and 58.6% for soft-tissue tumors, 1.1 and 71% for germ cell tumors, and 2.4 and 85.1% for carcinomas.The overall survival rate was 75%. Long-term treatment complications warrant further studies of children who survive into adulthood.

Imerslund-Gräsbeck disease is an autosomic recessive disease characterised by a megaloblastic anemia due to a vitamin B12 deficiency and by a moderate proteinuria without kidney failure. It is caused by the malabsorption of Cobalamin-intrinsic factor complex bringing into play cubulin and other proteins (megaline, amnioless), some mutations of which are described at present. We report herein the observation of a child whose diagnosis was made belatedly during an acute decompensation with biological hemophagocytic syndrome. Its evolution was marked by the appearance of neurological disorders at the beginning of the vitamin B12 substitution treatment. These disorder regressed as the dosage was increase. The purpose of this observation is to recapitulate the main characteristics of this disease and to review the current data.

Intussusception due to lymphoma is a challenging condition for pediatric surgeons. The aim of this study is to report seven cases of this entity and to discuss its management.Six boys and one girl, 3-15-years-old, were admitted for intussusception secondary to a lymphoma. All patients underwent laparotomy: biopsy of massive abdominal tumor 6 and 8 weeks following resection of an intussusception (two cases), ileal resection of non-reductible intussusception (one case), right hemicolectomy for tumor of the appendix (one case), tumorectomy of localized ileal tumor (two cases), enlarged mesenteric lymph node biopsy associated with simple reduction of intussusception (one case). All children were successfully treated with protocol chemotherapy with a 15-month to 13-year follow-up. No relapse was observed.Surgeons should be aware of operative sights of ileal lymphomas. Diagnosis of lymphoma may be difficult after manual reduction of intussusception. A sample of any abnormality (mesenteric lymph node, peritoneal fluid) should be taken. Intestinal resection allows to reduce the intensity of chemotherapy but must be as limited as possible: ileal resection in cases of complicated intussusception, tumorectomy "in sano" in cases of ileal parietal isolated tumor. Reduction of intussusception alone (with no resection of ileal tumor) seems to be effective if diagnosis of lymphoma is possible from peripheral samples (peritoneal fluid, pleural effusion, mesenteric lymph node, bone marrow biopsy...).

Bernard-Soulier syndrome (BSS) is a congenital autosomal recessive bleeding disorder characterised by giant platelets, the lack of thrombocytopenia or a moderate one, prolongation of skin bleeding time, and absent platelet aggregation in response to ristocetin. We report a case of BSS revealed by major neonatal thrombocytopenia. A newborn was admitted for thrombocytopenic purpura initially believed to be due to a maternal auto-immune thrombocytopenia. Because of the persistence of the thrombopenia till the age of 7 months despite therapy by corticosteroids and immunoglobulins, and because of the detection of anti-1b antiplatelets antibodies after transfusion, BSS diagnosis was evoked. In such a situation of major thrombocytopenia, the main therapeutic measure is prevention. Therapy by DDAVP may be used after the age of 3 years in situations of high haemorrhagic risk. This case report underlines the importance of a precise diagnosis in front of a maternal thrombocytopenia and the possibility of antenatal diagnosis of BSS.

Neuroblastoma is the most frequent tumor observed in the newborn. The aim of this study was to review clinical features, treatment and outcome of newborns diagnosed with a localized neuroblastoma.Data from 52 cases treated according to the NBL 90 and 94 protocols between 1990 and 1999 in 18 French centers of pediatric oncology were analyzed.The median age at diagnosis was 12 days (range 0-28) with antenatal detection in 14 patients (27%). Tumor location was abdominal in 40 patients (adrenal in 20 of the 40), thoracic in eight, pelvic in three, and cervical in one. N-myc amplification was observed in one out of 40 evaluable cases. The size of the primary tumor was less than 5 cm in 25 cases, between 5 and 10 cm in 25 and more than 10 cm in two. Dumbbell tumor was observed in seven, of whom five had neurological deficit. One child died from hemorrhage after fine needle biopsy during diagnostic procedure. Primary surgical resection was attempted in 37 infants, of whom two died of surgery related complications and three had nephrectomy. Tumor was deemed as unresectable in 14 patients, and primary chemotherapy was given followed by surgical excision in 12. One of them died a few days after the beginning of chemotherapy. As a whole, continuous complete remission was achieved in 48 children, four of them after relapse. Overall survival was 92% with a median follow-up of 46 months (0-113 months).The excellent prognosis of localized NB in neonates needs very restrictive surgical indications, with well-established anatomic and imaging criteria. Indeed, chemotherapy based on weight and managed by expert teams should allow to perform surgical excision in safer conditions for unresectable tumors.

Burkitt's lymphomas are rarely revealed by acute intestinal intussusception in children. The study aim was to report eight cases.Between 1988 and 1999, eight children, seven boys and one girl (mean age: 6 years) were hospitalized for an acute abdominal syndrome. Abdominal ultrasonography showed intestinal intussusception (n = 8) primitive tumor (n = 2), mesentivic lymph nodes (n = 2) and liver nodes (n = 1). Enema (n = 6) confirmed presence and irreductibility of the intestinal intussusception. A laparotomy was performed on emergency in seven patients and found the primitive tumor in 6. The procedure consisted in disinvagination (n = 4) and intestinal resection for ischaemia (n = 2). One patient was not operated on and the diagnosis was performed through ultrasonography guided tumoral puncture.According to the Murphy classification, there were 2 stage II, 3 stage III and 3 stage IV patients. With LMB protocol chemotherapy, a complete remission was observed following the first cure. All the children were alive at the time of this study with a follow-up longer than one year after the complete remission.Abdominal sonography is the most efficient examination for the diagnosis of intestinal intussusception and sometimes of the primitive lesion. In the absence of sonographic intestinal impair, thanks to ultrasonography guided tumoral puncture, diagnosis may be made and chemotherapy started. If the lymphoma is not visualized with ultrasonography, an emergency laparotomy is necessary for the diagnosis of the lymphoma and the intestinal resection in case of necessity. Burkitt's lymphoma is very sensible to chemotherapy.

Opsoclonus-myoclonus is a rare syndrome characterized by multidirectional chaotic eye movements, myoclonus and ataxia. In children, it could be a paraneoplastic syndrome in association with neuroblastoma, usually with a high survival rate, but having a high frequency of neurologic and psychologic sequelae.The aim of this study was to describe oncologic outcome (prospectively) and neurologic outcome (retrospectively) in children with non-metastatic neuroblastoma, and to determine its best treatment.Data were collected on 21 children diagnosed with localized neuroblastoma and opsoclonus-myoclonus between 1990-1999 from the French Society of Pediatric Oncology institutions.Median age at diagnosis was 18 months. Location of the tumor was abdominal in 14 cases, thoracic in three cases, pelvic in three cases, and cervical in the last case. There was a majority of small tumors with a maximal diameter5 cm in 13 cases. Only four tumors were initially considered as unresectable tumors and received first-line chemotherapy. Complete macroscopic resection was performed in 20 cases (four after primary chemotherapy). Nine children received chemotherapy. Twenty children remained in first complete remission, and one relapsed and died (the unique NMYC amplified case). Treatment for opsoclonus-myoclonus varied widely. Only one child received no medical treatment for opsoclonus-myoclonus, because of complete resolution of neurologic symptoms after exclusive surgery. The following agents were used: corticosteroids in 18 cases, intravenously immune globulin in five cases, and antiepileptic drugs in seven cases. Ten patients experienced relapses of opsoclonus-myoclonus symptoms, mainly related to the decrease of steroid therapy (5/10). Ten of 16 assessable children had persistent neurologic deficits including speech delay or cognitive deficits (8/16), ataxia (6/16), motor delay (2/16), and behavioral problems (2/16). There is no correlation between neurologic outcome, and either age at diagnosis or duration of neurologic symptoms, or type of treatment of the tumor, particularly chemotherapy.Persistent neurologic deficits are characteristic for children with neuroblastoma and opsoclonus-myoclonus. Neurologic outcome seems unrelated to the treatment of neuroblastoma, which should exclusively be conducted according to oncological criteria. The treatment of opsoclonus-myoclonus should be standardized, mainly based on high-dose hydrocortisone, with a very low decreasing dosage, associated to intravenously immune globulin in severe cases. A biological immunologic work-up of the disease and cautious neurologic and psychologic standardized follow-up should be performed.

Desmoplastic tumours with divergent differentiation are principally located in the abdomen and develop locally or regionally. They occur in adolescents or young adults and are characterized at histology by a proliferation of undifferentiated small cells surrounded by a dense stroma. Only immuno-histo-chemistry provides the diagnosis. Since their chemosensitivity is rare and often partial the outcome is usually lethal. Six new cases of this recently described entity are presented here. The authors are in favour of a multidisciplinary and aggressive management, combining intensive polychemotherapy, extensive surgical exerisis and total abdominal radiotherapy.

Juvenile granulosa cell tumors (JGCT) of the ovary are rare in children. The over-all outcome after surgery is relatively good, but the indication and type of complementary treatment for severe forms are still unclear.A retrospective survey of the majority of patients with JGCT of the ovary admitted between 1965 and 1990 to 11 French oncologic pediatric centers was carried out. Medical records including surgical and histological data, were analyzed and each tumor was retrospectively classified by the same pathologist according to the Wollner classification.There were 40 patients aged 7 months to 22 years (mean: 6 years); 28 were less than 10 year old at diagnosis. Three had enchondromatosis (Ollier's disease). At diagnosis, all patients presented with an abdominal tumor, 23 had developed manifestations of precocious pseudopuberty, 2 had signs of virilization after a normal puberty and 2 had secondary amenorrhea. Surgery was always the primary treatment: unilateral ovariectomy in 35 cases, bilateral in 4 and biopsy alone in 1 case. There were 21 stage I, 1 stage II, 16 stage III and 2 stage IV cases. 13 patients received combined chemotherapy and 2 abdominal radiotherapy. 34 patients were alive and disease-free 10 months to 26 years after surgery and 6 died. All 23 patients with precocious pseudopuberty had a favorable outcome.This study confirms earlier reports. Unilateral ovariectomy is the first-choice therapy. There is no evidence that tumors complicated by rupture and hemoperitoneum require chemotherapy. Combined chemotherapy does not appear to improve the prognosis for the rare malignant forms. The factors of good prognosis are age less than 10 years and the presence of precocious pseudopuberty.

Thirty-five cases of primary intracranial germ cell tumor treated at the Institut Gustave-Roussy between 1975 and 1987 were reviewed. There were 23 males and 12 females; the median age was 12 years (range: 3 months to 17 years). Tumors originated in the pineal region in 15 cases, in the suprasellar region in 15 cases, and in both region in 5 cases. The diagnosis was confirmed histologically in 20 cases (14 germinomas and 6 non germinomatous germ cell tumors), and cytologically in 5 cases. There were 11 secreting tumors (alpha-foetoprotein or chorionic gonadotrophin) without histological diagnosis in 6 cases. Four patients were treated with a presumptive diagnosis. Surgical resection was performed in 6 cases. Thirty-two patients were irradiated on the tumor site; 17 received a craniospinal irradiation and 7 a cranial irradiation. Six patients received chemotherapy. Twenty-five patients are alive with a median follow-up of 4 years. Prognosis is better in germinomas than in non germinomatous germ cell tumors (survival rates = 88 and 50% respectively). Chemotherapy is presently being evaluated in the treatment of germ cell tumors with the aim of using lower doses of radiotherapy and decreasing its late effects in germinomas and of improving the prognosis of other histological types.

A case of parameningeal cervical rhabdomyosarcoma with severe bone destruction is reported in a 3 month-old infant; symptoms were present at birth. The treatment consisted of exclusive intensive chemotherapy. The outcome was favourable with complete tumor regression and vertebral bone reconstruction. The child was on complete remission without sequellae two years later.

Among the 282 neuroblastomas treated at the Institut Gustave-Roussy between 1982 and 1987, 38 dumbbell forms were observed. Therapeutic approaches included: 1) An initial laminectomy in forms with neurological deficit; 2) Surgical excision of the primary tumor; 3) Preoperative chemotherapy for metastatic forms and non-metastatic forms in which primary tumors considered unresectable at diagnosis; 4) Radiation therapy on macroscopic residual disease. Twenty three of 38 children presented with a neurological deficit. A laminectomy was performed in 21 cases. Neurological recovery was good in 8 cases, partial in 5 cases and absent in 5 cases. Three patients were aggravated after the procedure. The event free survival was 76%. This high survival rate is linked with: 1) The predominantly non metastatic stages (25/38); 2) A high proportion of children under 1 year of age (25/38); 3) A high proportion of thoracic locations. Out of the 29 survivors, there were 10 cases of major neurological sequelae (34%) and 9 cases of major orthopedic sequelae (31%). The coexistence of a serious functional prognosis and an excellent vital prognosis led us to analyse the therapeutic modalities and reevaluate the necessity of routine initial neurosurgical excision by laminectomy, and using a first line chemotherapy in selected indications.

Gliomas involving the brain stem represent 10% of pediatric central nervous system neoplasms. They result in multiple cranial nerve involvement, long tracts signs, cerebellar signs, usually with no evidence of raising in intracranial pressure. The diagnosis is established by computed tomographic scan and magnetic resonance imaging. Classic management consists in conventional radiation therapy but the prognosis is very dismal with a five year survival rate about 30%.

Primary intra-cranial germ-cell tumors are a rare and heterogeneous group of neoplasms, identical to germ-cell tumors of gonads and other organs. These tumors arise along the midline, from the supra-sellar cistern to the pineal gland, and have neurological, ophthalmological, and endocrinological expression. The diagnosis is established by detection of increased levels of tumoral markers and/or by histological examination. The treatment includes chemotherapy, radiotherapy and surgery.

The authors have studied a population of 51 children in which 63 central venous catheters were used for the treatment of leukemias, solid tumors and lymphomas. Two groups were isolated: continuous hospitalization (group A) and intermittent hospitalization with periodical day care (group B). Mean duration of catheterization was 129 days in group A and 176 days in group B (whole population: 149 days), with a total of 9,724 days of catheterization. There was no significant differences between the two groups concerning infection, bleeding, thrombosis or migration. So the authors believe that permanent hospitalization is not mandatory for chemotherapy in children with severe malignant diseases. Periodical day care therapy allows a near normal life for children and a better cooperation from their parents.

Daily subcutaneous infusion of deferoxamine in thalassemia and other transfusion dependent-patients can successfully treat iron overload, but most patients, mainly young children and teenagers may not comply with this method. Experience with nightly intravenous infusion of deferoxamine (8 g) through a subcutaneous-port over 5 out of 21 days, is reported in 4 children with dramatic improvement in clinical status, ferritin levels and quality of life.

Dilated cardiomyopathies occur mostly in infants and affect their vital and functional prognosis. They may be primary or secondary to various pathologies such as congenital cardiac malformation, toxic myocardial drugs or mucoviscidosis. Medical treatment may only be transiently effective and brutal or progressive aggravation may lead to cardiac transplantation being considered in those cardiomyopathies which are primary (without metabolic causes) or chronic secondary. Echocardiographic survey is the most efficient way to follow the evolution and to detect complications (cardiac thrombosis).

Massive bilateral breast involvement in the course of a Burkitt's lymphoma is reported as an exceptional occurrence in a 13 year-old girl, in early puberty. It was an extensive form, stage IV, with massive organ involvement but without CNS involvement. Chemotherapy (LMB 84) induced total cure (18 months disease free survival).

Two cases of arterial and venous thrombosis associated with lupus anticoagulant are reported. The first case was observed in the context of a systemic lupus erythematosus. In the second case, no underlying disease was found. From these 2 cases and a review of the literature, the particularities of this association in children is discussed.

Multiple intracerebral aspergillus abscesses in a 5 year old boy with a Burkitt's lymphoma are described. The disease was fatal despite antifungal treatment. The diagnostic and therapeutic problems, the risk factors and preventive care are discussed.

The authors report a retrospective study of 11 cases of malignant hyperthermia. The mean age of the patients was 5 months and 3 weeks. Clinical features included severe hyperthermia (greater than 41 degrees C), seizures, coma, collapse, rhabdomyolysis, acute renal failure and functional renal failure. Three infants died. Four patients presented neurological damages. Four recovered fully. The authors discuss the difficulties of diagnosis, the nosological position and the pathophysiology of this syndrome.

Four cases of congenital toxoplasmosis with hydranencephaly are reported. The anatomic lesions are the consequence of ischemic necrosis and foetal hydrocephalus. The risk of such lesions is highest during the second trimester of pregnancy. The preventive steps against congenital toxoplasmosis are recalled.

Coronary lesions with atheromatous deposits occurring in later childhood characterize homozygous type IIa hypercholesterolaemia and condition the somber prognosis of a disease which affects one subject in a million. However, aortic lesions are constantly found, as shown by routine ultrasonographic and angiographic studies in these children. The walls of the proximal aorta are cardboard-like and thick, the origin of the aorta is narrow and the semilunar aortic valves are thickened. The valvular or supravalvular aortic gradient may be considerable; it is often progressive, but is sometimes stabilized or made regressive by medical treatments combined with plasmapheresis or porto-caval shunt. Aortoplasty or aortic valve replacement being difficult to perform in these patients, more aggressive therapeutic procedures, such as liver or heart transplantation, have been suggested. The last generation cholesterol-lowering drugs seem to offer some hope of success.

A case of acute chorea in a 10 years old girl complicating a systemic lupus erythematosus associated with antiphospholipid antibodies is reported. The lupus anticoagulant was detected with a coagulation assay and the false serological reaction for syphilis by the RPR test. The child recovered with Prednisone therapy. The place of chorea in the context of neurological complications of SLE and the particularity of its association with anti-phospholipid antibodies are discussed.

An IgM immunosorbent agglutination assay (ISAGA) test was evaluated for detection of IgM antibodies in diagnosis of congenital toxoplasma infection, and compared with IgM IFI test. Of 36 sera from infants with congenital infection, the IgM ISAGA test was positive in 19 cases (52%), whereas the IgM IFI test was positive in only 4 cases (11%). Of those sera obtained during the first 90 days of life from the infected infants, 70% were positive in the IgM ISAGA test whereas only 23% in the IgM IFI test. Neonatal sera from 10 infants suspected, but in whom this diagnosis was ruled out, were also evaluated: one false positive was found with the ISAGA test, but without control 15 days later. The ISAGA test is a simple, sensitive and probably highly specific test for diagnosis of congenital toxoplasma infection.