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We report on the case of a girl with type 1 Gaucher's disease, treated from age 9 to 15 with high-dose enzyme replacement therapy. This treatment did not avert the development of an extensive mutilating hepatic fibrosis warranting a liver transplantation, which was followed by death. In some cases of Gaucher's disease, alternative strategies such as fractionated or further increased ERT, gene therapy, or glucosyltransferase inhibitor should be explored.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Infantile acute hemorrhagic edema of the skin is not included as a separate entity in the current English-language literature as it is in continental Europe. Therefore we have attempted to clarify the nosologic position of acute hemorrhagic edema among cutaneous vasculitides in children, on the basis of our experience in 10 cases. Our study confirms that acute hemorrhagic edema affects infants between 4 and 24 months of age. The two main features are an ecchymotic purpura, often in a cockade pattern, and an inflammatory edema of the limbs and face. Visceral involvement is uncommon. Spontaneous and complete resolution occurs within 1 to 3 weeks; one to four attacks may occur. Histopathologic examination demonstrates a leukocytoclastic vasculitis. Perivascular IgA deposits can occasionally be found. Besides typical acute hemorrhagic edema, some cases in 2- to 4-year-old children appear to overlap with Schönlein-Henoch purpura. We suggest that typical acute hemorrhagic edema should be regarded as a separate clinical entity. This allows an appropriate prognosis to be made for this generally benign disease of infants.

The case of an 8 year-old boy presenting with walking difficulties due to dystonia, peculiar because it was more pronounced during daytime is reported. Improvement with treatment with L-Dopa was dramatic. This diurnal fluctuation and excellent response to L-Dopa suggest the diagnosis of Segawa syndrome. The precise mechanism of the dystonia remains unknown.

We report a new case of non-familial dysautonomia. The patient was a boy with no known Jewish ancestry in whom psychomotor retardation in early infancy failed to lead to specialized evaluation. Regressive episodes of ataxia developed at the age of three and infrequent generalized seizures occurred between four and seven. Diagnosis was first considered at the age of seven after neuroparalytic keratitis developed and rapidly became bilateral. This case has remained highly unusual throughout the course since none of the commonly reported complications (swallowing disorders, aspiration pneumonia, and dysautonomic "attacks") has occurred. No life-threatening manifestations have developed. Peripheral nerve biopsy specimens showed that myelinated fibers, especially of large diameters, were abnormally scarce, and that the histogram failed to exhibit the normal bimodal aspect. Ultrastructural studies also disclosed a marked reduction in the caliber of unmyelinated fibers, whose axons were flattened or occasionally missing. No evidence of regeneration was found. The atypical clinical features in our patient are discussed.

After observation of a 10 month-old infant hospitalised for acute thrombopenia associated with signs of marked radiological hyperostosis, the initial medullograms showed a rich bone marrow free of blast cells. Subsequent complications of the thrombopenia were anemia, neutropenia and circulating blastosis. Marrow aspirations at various sites were unsuccessful. X-rays showed a worsening of the conditions and the child suffers attacks of intense pain. Ultrastructural cytochemistry and Tdt disclosed by immunofluorescence showed that the majority of blasts possessed Tdt and 2-3% were PPO positive. The presence of these 2 markers may correspond either to the presence of a promegakaryoblastic leukemia with aberrant Tdt, or to the coexistence of 2 types of blasts cells.

After analysis of the results of 142 CT brains scans performed from 1976 to 1982 on children with acute lymphoblastic leukemia, we can propose indications for this exam in relation with the different clinical stages and evolution of the disease. An exam is carried out as soon as possible at the start of the disease without injection of contrast media for use as a reference point. Excepting complications or neurological localisations, a scan will be performed at the end of the third year of treatment, without injection of contrast media, in screening for possible iatrogenic lesions. Neurological complications of unknown origin and leucoblastic meningitis seems to require a scan with injection of contrast media firstly as a mean of diagnosis, and secondly, in case of a cerebro meningeal localisation, in order to judge the efficiency of treatment and to screen for early complications. Computerized tomography however has its limits, particularly in case of purely meningeal leucoblastic infiltration.

One case of subarachnoid haemorrhage due to a spinal cord tumor, seen in a child, is reported. This exceptional etiology, whose the look is often misleading must be called to mind when meningeal and rachidian syndromes are associated. Ependymoma of cauda equina is the most common tumor.

The authors analyse 40 cases of erythema multiforme (including twenty children under fifteen) seen over a five-year period at the Sick Children's Hospital in Bordeaux, Bullous erythematous target lesions of the skin were associated, in most cases, with pluri-orificial ulcerations on the mucous membranes and, less frequently, with more or less severe systemic or visceral symptoms. Borderline cases were observed, associating features of erythema multiforme simplex and of Lyell disease with variable degrees of dermoepidermal blistering and epidermal necrosis. Infection (32.5% of cases) is a more common etiology in children than in adults; the main pathogens are herpes simplex virus, vaccinia pox virus, and Mycoplasma pneumoniae. Drug-induced forms (37% of cases), which are more often seen in adults than in children, are usually due to sulfonamides or antiinflammatory agents. In 30% of cases, no etiology could be demonstrated. Attention is drawn to the frequency of facial vespertilial erythema, as well as the possible occurrence of severe conjunctival sequellae. The connections between erythema multiforme, fixed drug-induced eruptions, and Lyell disease are discussed: only the last, which implies dermoepidermal cleavage, can be categorized with erythema multiforme. The staphylococcal scalded skin syndrome, in which the epidermolysin of Staphylococcus aureus type II 71 is responsible for a superficial cleavage, proceeds from entirely different mechanisms and should be regarded as totally distinct from erythema multiforme.

Takayasu's arteritis (TA) is a rare chronic inflammatory arteriopathy affecting mainly the aorta and its branches. Many skin manifestations have been reported in association with this disease. Pyoderma gangrenosum and subcutaneous inflammatory lesions of the leg are the most frequent. We studied a boy with TA in whom a papular rash of the trunk preceded the onset of vascular symptoms by many years. Histologically, the lesions were superficial and consisted of middermal noncaseating tuberculoid granulomas, which progressed to atrophy and anetoderma because of elastic network disruption. Granulomas were also found in synovial tissue but not in a temporal artery biopsy specimen, which showed only intimal hyperplasia. Our observations suggest that vascular and skin lesions with elastic tissue may both result from a common granulomatous hypersensitivity process.

Computerised axial tomography (CAT scan) was performed in 22 children with acute lymphoblastic leukaemia and in 13 the results were normal. In the other nine, various lesions were observed; namely intra-parenchymal lesions of density of (3 cases, one of which was calcified), intra-parenchymal lesions of decreased density (2 cases) and ventricular dilatation (7 cases). The role of the disease and of the treatment (intra-thecal methotrexate, cranial irradiation) in the development of these lesions is discussed. The CAT scan is an excellent method of monitoring the neurological problems in acute lymphoblastic leukaemia.

The case of a child presenting with Hodgkin's disease (stage I A, mixed cellular type) at the age of 23 months is reported. Chemotherapy (six treatments with MOPP) enabled a clinical remission, but an in situ relapse with the same histological pattern was observed at the age of 3 years and 9 months. After local irradiation, a second complete remission was observed. At the age of 6, a clinical picture of intraskull hypertension with ataxia, lead to the diagnosis of posterior cavity tumor. Complete excision was performed and the pathological examination showed a typical medulloblastoma. Adjuvant radiotherapy was carried out. Eight months later, a fatal plurifocal medullar relapse was observed. Second tumors in Hodgkin's disease are well known. However, this new case appeared to be the first report of a medulloblastoma after Hodgkin's disease.

Five recent cases of urticarial rash with cow-milk allergy are reported. They all occur at the time of weaning in children who have been sucking during at least three weeks. In three of those cases, digestive manifestations were also found. The histological pattern of the skin showed a vasculitis with deposits of fibrinogen and complement. The steadily high rate of IgE and positive cow-milk RAST in five cases give arguments for reaginic allergy in extra digestive manifestations of cow-milk proteins allergy. The treatment is the suppression of cow-milk and of any products which might contain milk proteins. Our cases had a favorable evolution.

Acute infectious cellulitis is a common condition in pediatric patients. We retrospectively studied 28 cases seen over the last four years. Average age of patients was four years. Fever and a decline in general health were often found. Streptococcus pyogenes and Staphylococcus aureus were the most common organisms in our series. Outcome was favorable under early antimicrobial therapy selected according to age and clinical features. Before three months of age, cellulitis suggests a streptococcus B infection and should be treated by ampicillin or parenteral penicillin, combined with an aminoglycoside if called for. Between 4 months and 2 years of age, Haemophilus influenzae b or a pneumococcus are the most likely organisms; Haemophilus cellulitis should be treated by a third generation cephalosporin for ten days or longer, followed by ampicillin or ampicillin-clavulanic acid per os for ten or 15 days. Beyond 2-3 years of age, all organisms may be the cause of cellulitis, but the most likely are Streptococcus pyogenes and Staphylococcus aureus, treatment consists in administration of either a penicillin M or a macrolide, the route being selected according to the general condition and site of the cellulitis.

Atlanto-axial luxation in uncommon in chronic arthritis in childhood, especially early in the course of the disease. One case is described in which atlanto-axial luxation occurred early. Computed tomographic myelography showed the cervico-medullary compression which was treated by transoral anterior decompression and posterior occipito-cervical fusion.

A fusobacterium necrophorum septicemia due to a neglected peritonsillar abscess is reported in a 7 year-old boy with no significant past medical history. Osteo-articulary, hepatic and pleuro-pulmonary septic localizations, with an otherwise favourable outcome left severe orthopedic sequelae in the right hip. This resembles the post-peritonsillar abscess septicemia described by Lemierre in 1936 which was due to an anaerobic bacillus (fusobacterium). The reappearance of this pathology should lead to systematic anaerobic blood and abscess studies. Penicillin G and Metronidazole are still efficient in controlling this organism.