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5.
Arch Pediatr ; 23(4): 373-7, 2016 Apr.
Article in French | MEDLINE | ID: mdl-26830955

ABSTRACT

Primary hyperparathyroidism, widely prevalent in women after menopause, remains rare in children and adolescents. Sporadic forms are the most frequent. Clinical manifestations are general, renal, gastrointestinal, cardiac, or bony. Diagnosis is biological and radiological. The imaging modalities allow assessment of the disease impact and identification of the parathyroid adenoma.


Subject(s)
Adenoma/diagnostic imaging , Fractures, Spontaneous/etiology , Hyperparathyroidism, Primary/etiology , Lumbar Vertebrae/injuries , Parathyroid Neoplasms/diagnostic imaging , Spinal Fractures/etiology , Adenoma/complications , Adolescent , Female , Humans , Hyperparathyroidism, Primary/diagnosis , Parathyroid Neoplasms/complications
6.
Arch Pediatr ; 23(4): 382-4, 2016 Apr.
Article in English | MEDLINE | ID: mdl-26774895

ABSTRACT

BACKGROUND: Bloom syndrome is a rare disease characterized by chromosomal instability and increased risk of developing lymphoma. OBSERVATION: We report on a case of Bloom syndrome in a 5-year-old boy with Burkitt lymphoma. The diagnosis was suspected by growth retardation, repeated respiratory infections, facial telangiectasia, and a low immunoglobulin level, then confirmed cytogenetically by sister chromatid exchanges. Chemotherapy was poorly tolerated, which required reducing the doses. Unfortunately, it was not sufficient to control the neoplasm and the patient died 14 months after diagnosis. CONCLUSIONS: Cancers in Bloom syndrome are a challenge since the potentially life-threatening side effects of the chemotherapy may require modifications in standard treatment such as dose reduction, which can compromise the tumor prognosis.


Subject(s)
Bloom Syndrome/complications , Burkitt Lymphoma/etiology , Burkitt Lymphoma/diagnosis , Burkitt Lymphoma/therapy , Child, Preschool , Fatal Outcome , Humans , Male
7.
Arch Pediatr ; 23(2): 171-5, 2016 Feb.
Article in French | MEDLINE | ID: mdl-26702489

ABSTRACT

Renal cell carcinoma is a rare pediatric malignant tumor of the kidney. Unlike Wilms tumor, the efficacy of chemotherapy and radiation therapy in pediatric renal cell carcinoma remains uncertain. Surgery is the best treatment and prognosis is favorable when the tumor is localized and completely eradicated. We report an exceptional observation in a 7-year-old girl with renal cell carcinoma who had been treated 20 months previously for Ewing sarcoma with chemotherapy and radiotherapy. The renal tumor was revealed by abdominal pain without hematuria. She underwent a radical nephrectomy, and histopathology concluded in renal carcinoma associated with translocation Xp 11.2 grade 3 of Furhrman pT3a N1. No adjuvant therapy was given. After 3 years of follow-up, there is no evidence of local or metastatic recurrence. This observation is significant given the very young age of this patient, the occurrence after Ewing sarcoma with a short disease-free interval. It seems that translocation renal cell carcinoma is associated with previous exposure to chemotherapy, particularly topoisomerase II inhibitors or alkylating agents.


Subject(s)
Bone Neoplasms , Carcinoma, Renal Cell , Kidney Neoplasms , Neoplasms, Second Primary , Sarcoma, Ewing , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics , Bone Neoplasms/therapy , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/genetics , Carcinoma, Renal Cell/therapy , Child , Female , Humans , Kidney Neoplasms/diagnosis , Kidney Neoplasms/genetics , Kidney Neoplasms/therapy , Neoplasms, Second Primary/diagnosis , Neoplasms, Second Primary/genetics , Neoplasms, Second Primary/therapy , Sarcoma, Ewing/therapy , Translocation, Genetic
11.
J Fr Ophtalmol ; 35(8): 622.e1-4, 2012 Oct.
Article in French | MEDLINE | ID: mdl-22975270

ABSTRACT

Wegener's granulomatosis is a necrotizing granulomatous vasculitis with a strong affinity for the upper respiratory tract, lung and kidney. The ophthalmologic manifestation most often presents as inflammatory orbital pseudotumor or scleritis. We report a case of a 27-year-old woman with an orbital-meningeal presentation leading to a diagnosis of Wegener's granulomatosis.


Subject(s)
Eye Diseases/diagnosis , Granulomatosis with Polyangiitis/diagnosis , Meninges/pathology , Orbit/pathology , Vasculitis, Central Nervous System/diagnosis , Adult , Diagnosis, Differential , Exophthalmos/diagnosis , Exophthalmos/etiology , Female , Granulomatosis with Polyangiitis/complications , Granulomatosis with Polyangiitis/pathology , Humans , Orbital Pseudotumor/diagnosis , Orbital Pseudotumor/etiology , Vasculitis, Central Nervous System/etiology , Vasculitis, Central Nervous System/pathology
12.
J Fr Ophtalmol ; 35(7): 533.e1-4, 2012 Sep.
Article in French | MEDLINE | ID: mdl-22795759

ABSTRACT

Although rare, spontaneous intra-orbital hematoma can quickly jeopardize vision. It usually presents with painful proptosis. It can result from multiple etiologies, and the diagnosis is based on imaging studies in the absence of known causes. We describe two cases of spontaneous intraorbital hematoma. The first, of unknown etiology, required needle drainage. The second was associated with a subperiosteal hematoma of the orbital roof complicating a periorbital bone infarction in a patient with sickle-thalassemia.


Subject(s)
Exophthalmos/diagnosis , Hematoma/diagnostic imaging , Orbital Diseases/diagnostic imaging , Aged , Child , Exophthalmos/diagnostic imaging , Exophthalmos/etiology , Exophthalmos/surgery , Hematoma/complications , Hematoma/surgery , Humans , Male , Ophthalmologic Surgical Procedures , Orbital Diseases/complications , Orbital Diseases/surgery , Radiography
15.
Foot Ankle Surg ; 17(1): 37-43, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21276564

ABSTRACT

UNLABELLED: Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a rare congenital skeletal developmental disorder in childhood. It is characterized by an asymmetric osteocartilaginous overgrowth arising from epiphyses or epiphyseal equivalents. Lesions have hemimelic topography, usually occur in the lower limbs, most commonly in the ankle and the knee and affect either the medial or lateral part of one epiphysis. OBJECTIVE: The purpose of this study is to describe the imaging features of DEH by reporting four cases. MATERIALS AND METHODS: We present four cases of DEH in one female and three males aged between 7 and 15 years. Lower limb is involved in all cases and patients suffer from pain, limited function and deformity. Radiographs and CT findings were reviewed. All patients were treated by surgical excision. RESULTS: Plain X-ray revealed in all cases an irregular ossification arising from the affected epiphysis. The CT scan revealed an irregular fragmented osteocartilaginous mass involved from the epiphysis, with enlargement of epiphyses and intra-articular extension. CONCLUSION: The early diagnosis and treatment of DEH is necessary in preventing articular function, CT assists in defining the anatomic relationship between the mass and its parent epiphysis and in evaluating the condition of the articular cartilage and soft tissue. The distinct clinical and radiographic features should enable to differentiate the osteochondroma and the DHE.


Subject(s)
Bone Diseases, Developmental , Adolescent , Ankle/diagnostic imaging , Bone Diseases, Developmental/diagnostic imaging , Child , Epiphyses/diagnostic imaging , Female , Femur/abnormalities , Femur/diagnostic imaging , Foot/diagnostic imaging , Humans , Male , Tibia/abnormalities , Tibia/diagnostic imaging , Tomography, X-Ray Computed
18.
Rev Pneumol Clin ; 65(6): 333-40, 2009 Dec.
Article in French | MEDLINE | ID: mdl-19995653

ABSTRACT

OBJECTIVES: This report describes different clinical pictures of cystic pulmonary malformation (CPM) and problems in diagnosis. PATIENTS AND METHODS: Cases of CPM between 01 January 1994 and 31 December 2004 diagnosed in our institution were reviewed. RESULTS: Thirty-three cases of CPM were diagnosed in 30 children. They consisted of 17 boys and 13 girls ranging from 20 days to 16 years of age at the time of the diagnosis. The CPM included: 17 cases of congenital lobar emphysema (CLE), seven bronchogenic cysts (BC), five cystic adenomatoid malformations (CAM) and four pulmonary sequestrations (PS). Three patients presented two associated lung malformations. The mean ages at the time of diagnosis varied from 2 to 88 months. The symptoms consisted of respiratory distress (n=14, 46.6%); recurrent attacks of respiratory embarrassment (n=6, 20%); pulmonary infection (n=8, 26.6%) associated with haemoptysis in two cases; haemothorax (n=1) and a chance discovery (n=1). Radiological investigations led to the diagnosis in all cases of CLE and CAM although it contributed less to the diagnosis of BC and PS. Twenty-nine patients required chirurgical treatment involving lobectomy (n=22), pneumonectomy (n=2) and cystectomy (n=8). The histopathological examinations confirmed the diagnosis in all cases and rectified the preoperative diagnosis in four cases. Except for one patient with CLE, who died a few days after a lobectomy due to acute nosocomial pneumonia, the postoperative period was uneventful in 26 children with a mean of follow-up of 24 months (4 months to 7 years). Three patients developed transient and episodic attacks of dyspnoea. CONCLUSION: CPM may be responsible for many clinical and radiological pictures that present difficulties in their diagnosis. Polymorphism is related to the type of malformation, its topography and the evolutive complications.


Subject(s)
Bronchogenic Cyst/congenital , Bronchogenic Cyst/diagnosis , Bronchopulmonary Sequestration/diagnosis , Cystic Adenomatoid Malformation of Lung, Congenital/diagnosis , Echocardiography, Doppler , Magnetic Resonance Imaging , Pulmonary Emphysema/congenital , Pulmonary Emphysema/diagnosis , Tomography, X-Ray Computed , Adolescent , Bronchogenic Cyst/surgery , Bronchopulmonary Sequestration/surgery , Child , Child, Preschool , Cystic Adenomatoid Malformation of Lung, Congenital/surgery , Female , Humans , Infant , Infant, Newborn , Male , Pneumonectomy , Pulmonary Emphysema/surgery , Sensitivity and Specificity , Ultrasonography, Prenatal
19.
J Fr Ophtalmol ; 32(8): 540-3, 2009 Oct.
Article in French | MEDLINE | ID: mdl-19660832

ABSTRACT

PURPOSE: To evaluate the contribution of MRI exploration for the evaluation of orbital prothesis biocolonization. PATIENTS AND METHODS: We studied ten eyes of ten children who underwent enucleation for retinoblastoma and synthetic hydroxyapatite orbital implantation. Each patient was examined by MRI imaging with gadolinium within 2 months to 1 year. RESULTS: After gadolinium administration, five implants showed an enhancement. Nodular enhancement around the implant was noted in one patient with a recurrence of retinoblastoma, and brain metastases were shown in two cases. None of the orbital implants was rejected. CONCLUSION: Fibrovascular colonization reduces the risk of orbital implant migration. Magnetic resonance imaging is safe and effective in detecting extrusion or tolerance of the orbital implant.


Subject(s)
Magnetic Resonance Imaging , Neovascularization, Physiologic , Orbital Implants , Retinal Neoplasms/surgery , Retinoblastoma/surgery , Child , Child, Preschool , Female , Humans , Male , Retrospective Studies
20.
Arch Pediatr ; 16(9): 1280-3, 2009 Sep.
Article in French | MEDLINE | ID: mdl-19616416

ABSTRACT

Bronchial foreign body inhalation is a frequent and potentially serious accident in children. It can provoke long-term complications such as bronchiectasis and recurrent pulmonary infections. The foreign body is generally blocked in a bronchus and induces obstructive emphysema with superinfection. We report 2 cases of bronchial inhalation of a migrating cereal-ear, eliminated by parietal fistulization, in 9- and 11-year-old boys.


Subject(s)
Accidents , Edible Grain , Foreign-Body Migration/complications , Foreign-Body Migration/diagnosis , Axilla/pathology , Bronchial Fistula/diagnosis , Bronchial Fistula/etiology , Bronchiectasis/etiology , Bronchoscopy , Child , Cutaneous Fistula/diagnosis , Cutaneous Fistula/etiology , Humans , Inhalation , Male , Plants , Pneumothorax/etiology , Pulmonary Disease, Chronic Obstructive/etiology , Remission, Spontaneous , Thorax/pathology , Time Factors , Treatment Outcome
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