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J L Stéphan

Publications and source records attributed to J L Stéphan.

At least 19 recordsLinked to original sources

Successful treatment via chemotherapy and surgical resection of a femoral hemangiopericytoma with pulmonary metastasis.

Hemangiopericytoma (HPC) is a soft-tissue neoplasm composed of proliferating capillary pericytes. It has variable and unpredictable malignancy and most commonly occurs in the fifth or sixth decade of life. Diagnosis is based on the histological aspect. HPC is exceedingly rare in childhood. In both adults and children, curative surgery is the most important predictor of survival. The place of chemotherapy in the treatment of HPC is not well established. We describe a case of adult-type metastatic HPC of the thigh in a 13-year-old boy. The response to neoadjuvant chemotherapy was excellent, and local control of this initially unresectable tumor was achieved without radiation therapy or mutilating surgery. The child is alive and well and has had 8 years of follow-up after treatment.

Adolescent↗

[Spinal bone tumors in children].

The occurrence of back pain in children and adolescents varies from 30 to 51% in the literature. Bone tumors can be responsible for back pain. This paper presents the more common spinal bone tumors in children and adolescents, and specifies their etiology, their natural history, and their treatment as well.

Adolescent↗

[Streptococcus pyogenes endocarditis following varicella: a case report].

Although varicella is most often a benign and self-limited disease of childhood, it can be associated with a variety of serious and potential lethal complications. Especially, the incidence of severe infectious complications caused by group A streptococci has been increasing over the last years. We report the case of a previously healthy young boy with an aortic bicuspidy who developed a varicella complicated by endocarditis due to group A streptococcus, and a haemophagocytic syndrome. A favorable outcome was obtained after an early valvular replacement and 6 weeks of intravenous antibiotics.

Chickenpox↗

[Hemophagocytic syndromes and primary immunodeficiencies].

Lymphohistiocytic activation syndromes are characterized by activation and proliferation of T cells and macrophages usually reflecting an inappropriate response of the host to an infection. The clinical manifestations are often alarming symptoms suggestive of severe sepsis. Most patients have a known underlying disease (hemopathy, lupus, Still's disease, HIV infection, bone marrow or organ transplantation). In the few cases that occur apparently without any risk factors, investigations should be done to look for a predisposing inherited disease such as familial lymphohistiocytosis or Purtilo syndrome in boys. The treatment relies on immunosuppressive agents followed by bone marrow transplantation, which can provide a definitive cure in genetics forms.

Child↗

[Langerhans and non-Langerhans histiocytosis].

Although Langerhans cell histiocytosis (LCH) was described a century ago, its cause and pathogenesis are still unknown. A wide spectrum of disease and variable clinical behavior are characteristic. The clinical varieties of this enigmatic disease range from a lethal leukemia-like disorder that primarily affects infants to a curable solitary lytic lesion of bone. LCH is a clonal proliferative disorder of histiocytes that resembles in morphology and phenotype the dendritic antigen-presenting Langerhans' cells of the skin and other organs. Despite gaps in understanding, significant improvements in the therapies for this disease have been made. Careful risk stratification is critical for the appropriate administration of therapy. Patients with good prognostic factors may need only observation as their disease spontaneously regresses, or minimal intervention. The active search for more effective treatments for patients with poor prognostic features is a major future challenge for the Histiocyte Society.

Antigen-Presenting Cells↗

[Chronic recurrent multifocal osteomyelitis in children: report of 17 cases].

UNLABELLED: Chronic recurrent multifocal osteitis (OCRM) is a rare condition in children, of unknown aetiology, which may be misdiagnosed as osteomyelitis, arthritis or tumour. PATIENTS AND METHODS: We present a retrospective multicentric study of 17 patients (five boys and 12 girls) with an average follow-up of 7.5 years (six months-25 years). RESULTS: A spectrum of presenting features is possible, ranging from bone lesions alone to lesions combined with arthritis, palmoplantar pustulosis or psoriasis. The diagnosis was delayed from two weeks to five years. Roentgenographic evaluation was often normal at the beginning of the disease or showed nonspecific bone reactions. Radioisotope bone scans assisted in establishing the diagnosis and in identifying lesions that were initially clinically silent. Bone biopsies were performed in seven cases. Histopathological examination showed only mild inflammatory nonspecific changes. Microbiological cultures were always negative. Treatments were different according to the evolution of the disease and the hospital. There was no response to antibiotics in seven patients. The response to nonsteroidal anti-inflammatory agents and steroids was moderate and often transient. Salazopyrine and pamidronate treatment used in two patients allowed a durable remission. We lost sight of four patients, pain persisted in three in spite of treatment, it disappeared in two with treatment, mild pain persisted in five without treatment and remission occurred in three without treatment. CONCLUSION: This study clarifies the clinical and radiologic features of chronic recurrent multifocal osteomyelitis. The recognition of this rare entity is often delayed and difficulties in patient management sometimes emerge from its usual protracted course.

Adolescent↗

Reactive haemophagocytic syndrome in children with inflammatory disorders. A retrospective study of 24 patients.

BACKGROUND: The reactive haemophagocytic syndrome (RHS) is a little-known life-threatening complication of rheumatic diseases in children. It reflects the extreme vulnerability of these patients, especially those with systemic-onset juvenile chronic arthritis (JCA). This immunohaematological process may be triggered by events such as herpes virus infection and non-steroidal anti-inflammatory drug therapy. Treatment has not been standardized. METHODS: We characterized this unusual disorder and determined its incidence by carrying out a retrospective study of patients identified over a 10-yr period in French paediatric units. RESULTS: Twenty-four cases (nine males, 15 females) were studied. Eighteen had typical systemic-onset JCA, two had polyarthritis, two had lupus and two had unclassifiable disorders. Clinical features at diagnosis included high spiking fever (24 patients), enlargement of the liver and spleen (14), haemorrhagic diathesis (six), pulmonary involvement (12) and neurological abnormalities (coma or seizures) (12). RHS was the first manifestation of systemic disease in three cases. Admission to intensive care was required in ten cases. Hypofibrinogenaemia, elevated liver enzymes and hypertriglyceridaemia were found consistently. Phagocytic histiocytes were found in 14 of 17 bone marrow smears. RHS was presumed to have been precipitated by infection in 11 cases (four Epstein-Barr virus, three varicella-zoster virus, one parvovirus B19, one Coxsackie virus, one Salmonella, one Pneumocystis carinii) and by the introduction of medication in three cases (Salazopyrin plus methotrexate; morniflumate; aspirin). Macrophage activation was indicated by high levels of monokines in the serum of two patients. Twenty patients had only one episode, three had an early relapse and one patient had two relapses. The treatment regimen was tailored to each child as the clinical course was variable. There was no response to intravenous immunoglobulins, which were used in four cases. Intravenous steroids at doses ranging from conventional to pulse methylprednisolone induced remission in 15 of 21 episodes when used alone as the first-line treatment. Cyclosporin A was consistently and rapidly effective, both when used as second-line therapy in all seven of the episodes in which steroids failed and in all five patients who received it as their first-line treatment. This supports a central role of T lymphocytes in the haemophagocytic syndrome. Two patients died. One patient with lupus died of congestive fulminant heart failure after 4 days, despite treatment with intravenous steroids and immunoglobulins, and one patient with systemic-onset JCA died from multiorgan failure despite aggressive therapy with pulsed steroids and etoposide. CONCLUSIONS: RHS may be a more common complication of systemic disease in childhood than previously thought. This life-threatening complication should be diagnosed promptly, as it calls for the immediate withdrawal of potentially triggering medications, anti-infective therapy when relevant, and urgent immunosuppressive treatment, measures that are very often effective. Cyclosporin A may be the drug of choice.

Adolescent↗

Epstein-Barr virus-associated Kikuchi disease in two children.

The authors describe two children with Kikuchi necrotizing lymphadenitis, the main manifestations of which were cervical lymphadenopathy, fatigue, and fever. The diagnosis was based on histopathologic findings after open biopsy. Results of serologic studies, immunoperoxidase staining for Epstein-Barr virus (EBV) latent membrane protein, in situ hybridization for Epstein-Barr encoded RNAs, and polymerase chain reaction amplification of EBV Epstein-Barr nuclear antigen-1 (EBNA) DNA suggested that EBV was the causative agent in both patients. The disease was mild and subsided after complete surgical resection in one patient, with a follow-up of 1 year. In the other patient, a short course of corticosteroids led to complete clinical remission within 2 months, but the child still has biologic signs of persistent EBV infection. He experienced relapse with a large cervical mass and fever 28 months after the initial onset. Histologic findings were identical to those at initial presentation. Symptoms again resolved spontaneously within 2 weeks, but the follow-up was short (12 mos) and the child's EBNA antibodies are still absent. No evidence of immunodeficiency was found in either child. The cause of Kikuchi disease is unknown, but a viral or postviral hyperimmune reaction has been proposed. Malignant lymphoma and systemic lupus erythematosus are differential diagnoses. Early recognition of Kikuchi disease minimizes potentially harmful and unnecessary investigations and treatments. These findings add Kikuchi disease to the protean manifestations of chronic EBV infection.

Adolescent↗

[X-linked lymphoproliferative syndrome (XLP syndrome): from clinic to gene].

X-linked lymphoproliferative syndrome (XLP, also known as Duncan's disease) is characterised by an extreme sensitivity to Epstein Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal mononucleosis, acquired hyogammaglobulinemia and malignant lymphoma. The gene responsible for XLP has recently been identified by a positional cloning and a functional cloning approach and encodes a small cytoplasmic protein involved in signal transduction of T and NK cells. The identification of the XLP gene will permit direct diagnosis of XLP in families with a single affected male. Recent progress in immunobiology and genetics of this primary immunodeficiency disease are presented.

Epstein-Barr Virus Infections↗

[Reactive hemophagocytic syndrome in children].

Reactive haemophagocytic syndrome is characterized by activation and uncontrolled non-malignant proliferation of T lymphocytes and macrophages, leading to a cytokine overproduction, which accounts for the main biological signs. Children usually present with an acute febrile illness, fulminant pancytopenia and hepatosplenomegaly, posing a problem of differential diagnosis with severe sepsis. Hemopoietic cells are actively ingested by monocytes/macrophages in various organs, including lymph nodes, bone marrow, liver and spleen. This exarcerbation of the histiocytic system is currently classified among the reactional histiocytoses. It reflects an inappropriate host immune response. Most patients have a known underlying disease (hemopathy, lupus, systemic juvenile arthritis, HIV infection). In the few cases that occur in the apparent absence of any risk factors, investigations should be made to look for predisposing inherited diseases, such as familial lymphohistiocytosis or Purtilo's disease in boys. The treatment rests on immunosuppressive agents, followed by bone marrow transplantation, which can provide a definitive cure in genetic forms.

Arthritis↗

Hemophagocytic syndrome: A misleading complication of visceral leishmaniasis in children--a series of 12 cases.

OBJECTIVE: To describe the difficulties in diagnosing visceral leishmaniasis (VL) when revealed by hemophagocytic syndrome (HS) in young children. DESIGN: Retrospective study of patients identified over a 17-year period in French pediatric units. RESULTS: This series comprises 12 cases of VL that were either revealed (n = 11) or complicated (on starting treatment with antimony salts [n = 1]) by HS. Clinical manifestations were those of severe VL with sustained high fever and hepatosplenomegaly in children in very poor condition. Biological manifestations always included pancytopenia, marked hypofibrinogenemia and hypertriglyceridemia, hepatic cytolysis, and prominent hemophagocytosis on the bone marrow smear. These features led to transfer to a hematology unit. Ten children were very young (<38 months) at onset (and consequently at infection). Signs of autoimmunity (Coombs' test-positive erythrocytes, antinuclear factors, and various autoantibodies) were found in 4 cases and were probably secondary to polyclonal B cell activation. Serologic tests for Leishmania were negative at onset in 6 children, and no amastigotes were found on the first marrow smear in 8 of 12 cases despite extensive search. Seven patients had not visited foreign countries. All these factors explain the initial diagnostic confusion. Three cases were initially misdiagnosed as familial erythrophagocytic lymphohistiocytosis or infection-associated HS, and these patients were treated with etoposide (once for 5 months) to control the HS after failure of steroids. The diagnostic delay in these cases was 50, 74, and 134 days. When VL was finally diagnosed, amphotericin B monotherapy was effective in 4 cases. Eight patients were treated with antimony salts; 4 were cured, 3 required adjunctive treatment, and 1 worsened (HS) and was cured with steroids and liposomal amphotericin. Regardless of the type of therapy, all 12 children are presumed cured with a mean follow-up of 7 years (range: 6 months-16 years). CONCLUSIONS: A diagnosis of VL should, therefore, be seriously considered in all young patients with HS exposed to visceralizing Leishmania sp in Southern Europe. Clinicians and cytopathologists must be aware of the association. Early diagnosis of VL will minimize unnecessary hospitalization and potentially harmful investigations and treatments.

Animals↗

Large-volume leukapheresis procedure for peripheral blood progenitor cell collection in children weighing 15 kg or less: efficacy and safety evaluation.

BACKGROUND: We update our experience on large-volume leukapheresis (LVL) in very small patients with malignancies. LVLs were performed with the aim of reducing the psychological impact of leukaphereses by reducing the number of procedures while collecting large numbers of cells. PROCEDURE: Seventeen LVLs were performed using a Cobe Spectra separator in 14 patients weighing < or = 15 kg. A median of 3.8 patient's blood volumes corresponding to 296 mL/kg (range, 202-565) of blood was processed per session of 190 minutes (120-279) duration. A femoral catheter was installed specially for collection for 88% LVL (vs. 35% for standard leukaphereses). A median volume of 16.9 mL/kg was collected with 5.4 x 10(8) MNC/kg (range, 0.6-16.3) and 8.2 x 10(6) CD34+ cells/kg (range, 1.3-31.7). RESULTS: No signs of complications due to citrate toxicity were encountered. No hypotensive or hypothermic episodes were observed. Platelet counts were significantly diminished after each procedure (median: -59%). When the extracorporal line was not primed with red blood cells (RBC), the difference between pre-LVL and post-LVL hemoglobin levels was significant with a median 32 g/L decrease. CONCLUSIONS: The LVL approach for peripheral blood progenitor cells (PBPC) collection in very small children may expose them to the risk of anemia and thrombocytopenia and an excess of special central line installation. The application of this technique in these patients should be reserved for special cases when a very large number of cells must be collected and should be performed by an experienced team.

Anemia↗

Myelofibrosis: an unusual presentation of vitamin D-deficient rickets.

UNLABELLED: We present the case of a breast-fed 5-month-old infant who presented with pancytopenia, secondary to intense myelofibrosis during the winter months because of undiagnosed rickets. The patient responded to oral vitamin D with rapid resolution of symptoms. Secondary hyperparathyroidism was the probable cause of the myelofibrosis. CONCLUSION: Although nutritional rickets remains a problem in developing countries, children in northern climates in industrialized countries may also be at risk. Rickets must be considered when assessing myelofibrosis in a very young child.

Humans↗

Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity.

Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder characterized by the early onset of overwhelming activation of T lymphocytes and macrophages, invariably leading to death, in the absence of allogeneic bone marrow transplantation. Using genomewide genetic linkage analysis, we analyzed a group of 17 families with FHL and mapped a locus for FHL to the proximal region of the long arm of chromosome 10. Ten families showed no recombination with three tightly linked markers, D10S1650 (LOD score [Z]=6.99), D10S556 (Z=5.40), and D10S206 (Z=3.24), with a maximum multipoint LOD score of 11.22 at the D10S1650 locus. Haplotype analysis of these 10 families allowed us to establish D10S206 and D10S1665 as the telomeric and the centromeric flanking markers, respectively. Heterogeneity analysis and haplotype inspection of the remaining families confirmed that in seven families FHL was not linked to the 10q21-22 region, thus providing evidence for genetic heterogeneity of this condition.

Adult↗

High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP).

Phenotypic characterization of Diamond Blackfan Anemia (DBA) patients and their relatives was performed in 54 families. Complete blood count, fetal hemoglobin level, erythrocyte i antigen expression, and erythrocyte adenosine deaminase (eADA) activities were quantitated in patients and relatives. eADA was elevated in 28 of 34 transfusion-independent DBA patients, whereas persistence of erythrocyte i antigen was noticed in only 10 of 20 DBA patients. High eADA activities were also found in 14 of 149 healthy family members, allowing us to identify an isolated high eADA phenotype in these families. In contrast, increase in erythrocyte i antigen expression, elevated fetal hemoglobin levels, and macrocytosis were much less frequently noted in nonaffected members of the DBA families studied. Importantly, isolated high eADA phenotype was found to be significantly associated with genetic markers on chromosome 19 that segregate with the DBA phenotype. Isolated high eADA phenotype thus seems to reflect a silent phenotype of DBA in affected families. These findings suggest that elevated eADA activity in unaffected individuals needs to be taken into account during genetic assessment of DBA families and could be used for accurate assessment of mode of inheritance.

Adenosine Deaminase↗

Two distinct truncated variants of ankyrin associated with hereditary spherocytosis.

We present two distinct truncated variants of ankyrin associated with mild to moderate hereditary spherocytosis. Ankyrin Saint-Etienne 1 was manifested by an additional band located between bands 2.1 and 2.2. It was associated with a nonsense mutation in exon 39: TGG-->TGA; W1721X. Ankyrin Saint-Etienne 2 appeared as two faint bands underlining bands 2.1 and 2.2. It was associated with a nonsense mutation in exon 41: CGA-->TGA; R1833X. Overall ankyrin was diminished in splenectomized patients. Messenger RNAs Saint-Etienne 1 and 2 amounted to 20 and 37% of the total ankyrin mRNA, respectively. Ankyrin molecules truncated in their C-terminal region retain some ability to bind to the membrane whereas the bulk of nonsense mutations, located in more upstream regions, result in the mere disappearance of one haploid set of ankyrin. In the present cases, it was not possible to apportion the roles of ankyrin reduction and truncation in the pathogenesis of hereditary spherocytosis.

Adult↗