Dysplasia epiphysealis hemimelica: a report of four cases.

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.

[Central diabetes insipidus: diagnostic difficulties]. / Diabète insipide central: difficultés diagnostiques.

UNLABELLED: Central diabetes insipidus is rare in children. Characteristic features include polyuria and polydipsia due to arginine vasopressin deficiency. The differential diagnosis of polyuric states may be difficult. Etiologic diagnosis of central diabetes insipidus may be an equally difficult task. OBJECTIVE: To specify the difficulties encountered in the diagnosis of central diabetes insipidus and to point out features of the etiologic work-up and of long-term follow-up of children with idiopathic central diabetes insipidus. METHODS: A retrospective study of 12 children admitted with a polyuria/polydipsia syndrome to the pediatric - consultation and emergency unit of the children's hospital of Tunis between 1988 and 2005. Children with acquired nephrogenic central diabetes insipidus were excluded. Fourteen-hour fluid restriction test and/or desmopressin test were used without plasma vasopressin measurement. RESULTS: Eight patients were classified as having central diabetes insipidus, which was severe in seven children and partial in one girl. One patient was classified as having primary polydipsia. The diagnosis remains unclear in three patients. The etiological work-up in eight patients with central diabetes insipidus enabled the identification of Langerhan's-cell histiocytosis in two patients and neurosurgical trauma in one. The cause was considered idiopathic in five patients. The median follow-up of the five patients with idiopathic central diabetes insipidus was five years two months plus or minus six years seven months (range five months, 14.5 years). During this follow-up, neither brain magnetic resonance imaging scans findings nor anterior pituitary function have changed. CONCLUSION: Fluid restriction and desmopressin tests did not enable an accurate distinction between partial diabetes insipidus and primary polydipsia. Regular surveillance is warranted in patients with idiopathic central diabetes insipidus to identify potential etiologies.

[Currarino syndrome a rare cause of recurrent purulent meningitis]. / Syndrome de Currarino cause rare de méningites purulentes récidivantes.

The authors report a case of partial Currarino syndrome in a three and a half year old child with a left hemisacrum agenesis and a presacral mature teratoma. The special aspect of the observation was the apparition of repetitive polymicrobial purulent meningitis (Escherichia coli, Streptococcus B, Haemophilus influenzae) treated several times with non-specific antibiotics without normalization of CSF, particularly the CSF glucose, which remained low, justifying the use of an antimycobacterial treatment, especially since there was no local or general cause explaining the relapse. During a relapse of meningitis after ten months of antituberculosis treatment, the teratoma was discovered by a spine MRI done to detect any cerebrospinal defect. The authors insist on the fact that the Currarino syndrome must be investigated in case of repetitive purulent meningitis after ruling out the usual causes of meningitis.

Burkitt lymphoma in a child with Bloom syndrome.

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.

[Vertebral collapse revealing primary hyperparathyroidism in a 14-year-old girl]. / Tassement vertébral révélant une hyperparathyroïdie primaire chez une adolescente.

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.

[Secondary TFE3-associated renal cell carcinoma in a child treated for Ewing sarcoma]. / Carcinome à cellules claires du rein et sarcome d'Ewing pelvien : une association rare chez l'enfant en rapport avec la translocation TFE3 Xp11.2.

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.

[Febrile osseous pain in children with sickle cell disease: MRI findings]. / Douleurs osseuses fébriles chez l'enfant drépanocytaire: apport de l'IRM.

PURPOSE: The aim of this study was to report the MRI findings that can suggest a vaso-occlusive crisis in cases of febrile osseous pain in children suffering from sickle cell disease. MATERIALS AND METHODS: MRI (T1 and T2 weighted sequences and T1 weighted sequence with fat saturation before and after gadolinium injection) was performed in 10 children with sickle cell disease, presenting with febrile osseous pain. The diagnosis of vaso-occlusive crisis was made after fast improvement due to symptomatic treatment and negative bacteriological result. RESULTS: MRI was abnormal in all cases. A multifocal localisation was found in 2 cases. Bone marrow abnormalities were constant. In 10 cases, high T1 and T2 signal and metaphyso-diaphysial lesions were noted. Heterogeneous medullar enhancement with "ink stain" feature was constant. Early periosteal abnormalities were noted in 8 cases with inflammatory or stratified features. Cortical thinning was found in 1 case. Soft tissue abnormalities were observed in 5 cases with inflammatory features in 4. CONCLUSION: Multifocal synchronous localisation, medullar abnormalities resulting from hemoglobin degradation, heterogeneous enhancement, early periosteal abnormalities and associated soft tissues swelling are MRI findings suggesting acute vaso-occlusive disease.

[Peroperative sclerosis]. / La sclérose per-opératoire.

Complete, rapid destruction of the insufficient surface network as a one-stage procedure constitutes the best method for prevention of trophic disorders and especially pigmentation. Marked, rapid regression is obtained when these have unfortunately become installed. Combined surgery and multiple peroperative injections of a sclerosant allows the exclusive use of a gently acting sclerosant, 66% glucose solution, which is particularly well tolerated.

[66% glucose, a safe sclerosant. Experimental study]. / Le glucose à 66%, sclérosant de sécurité. Etude expérimentale.

Although accidents due to the intra-arterial injection of detergent sclerosant are very rarely observed, they are dramatic in their effects and often result in amputations, a risk accepted with difficulty for a treatment with a functional aim. To avoid these incidents, which may occur even when treatment is applied by the most experienced surgeons, the authors have used 66% glucose solution without accident since 1948. To confirm efficacy of the method, an experimental study compared 66% glucose (66 G) with a very commonly used product, 1% sodium tetradecyl sulfate (STD), in the rabbit. Except when enormous doses of 66 G are employed, the only effect noted was eosinophilic necrosis of the vessel wall without clinical symptoms, whereas doses eight times lower of STD produced an irreversible ischemia from obliterating endarteritis of the branches of the vascular tree injected. The 66% glucose solution appears to be a very safe, gently acting sclerosant, and the product of choice for peri- and post-operative sclerosis, particularly in regions where accidental arterial puncture is anatomically possible.

[Pulmonary sequestration. Particular clinical and radiological features]. / Séquestration plmonaire. Aspects cliniques et radiologiques particuliers.

Bronchopulmonary sequestration is a rare malformation. Is characterized by non-functioning lung tissue fed from one or several aberrant systemic arteries. Authors present a 5-month-old boy with Hirschsprung disease in whom intralobar sequestration was fortuitously made on the occasion of pneumopathy. Sequestration with associated Hirschsprung disease is exceptional and not reported in the literature.

[Fetal digestive tract pathology, imaging findings in antenatal diagnosis]. / La pathologie du tube digestif foetal, apport de l'imagerie dans le diagnostic anténatal.

Foetal anomalies of the digestive tract are numerous and dominated by malformations, the prognosis of which may be severe. Antenatal diagnosis of these anomalies allows a better management of neonates. It is known since about 20 years, a major development because of the progress realized in the field of foetal imaging. Ultrasonography, which is the best imaging modality, can be joined by MRI if necessary. The objective of this study is to evaluate the contribution of imaging in prenatal diagnosis of digestive anomalies, throughout a review of literature.

[Tuberculosis of the knee: MRI findings in two pediatric cases]. / Tuberculose ostéo-articulaire du genou: aspects IRM de deux cas pédiatriques.

Osteo-articular tuberculosis is rare in infants. The MRI findings reported for adolescents and young adults mainly relate to spinal involvement. Two cases of osteo-articular tuberculosis of infants located at the knee are presented. Vaccination has been correctly done. Skin test and chest radiography were normal. Evolution was insidious for one case. Osseous, medullary, cartilaginous and soft tissue abnormalities revealed by MRI were suspicious for tuberculosis. Diagnosis was confirmed at histology for both cases and bacteriology for one case. The aim of this study is to report the MRI features of osteo-articular tuberculosis in pediatric patients.

[Acute osteomyelitis in children: early MRI diagnosis]. / Douleurs osseuses fébriles chez l'enfant: apport de l'IRM.

PURPOSE: To assess the value of MRI for early diagnosis of osteomyelitis in children presenting with sepsis and acute onset of musculoskeletal pain. MATERIALS AND METHODS: MRI including fat suppressed T2W, and fat suppressed pre- and postcontrast T1W sequences was performed within 48 hours of admission in 26 children with clinical (fever and acute musculoskeletal pain) and biological (elevated WBC count and ESR in all cases, and elevated CRP in 12 patients) suspicion of acute osteomyelitis. None of the patients had sickle cell disease. RESULTS: MRI was normal in 7 children (26%). Bone marrow signal abnormality was noted in 19 cases (74%) consistent with acute osteomyelitis in 18 cases and metastatic neuroblastoma in 1 case. CONCLUSION: MRI is useful for evaluation of children presenting with sepsis and acute musculoskeletal pain, early diagnosis of osteomyelitis and to prevent unnecessary hospital admission and work-up.

[Spinal vascular malformation in a child, revealed by lumbar puncture]. / Malformation vasculaire intraspinale chez l'enfant révélée dans les suites d'une ponction lombaire.

Spinal vascular malformations are exceptional in children. We report a case in 1 year-old patient due to a spinal vascular malformation which was revealed by paraplegia after lumbary punction. The diagnosis was made by MRI. Spontaneous outcome was characterised by the persistence of paraplegia.

[An exceptional combined malformation: duplication of the lower urinary tract, the vulva and the posterior intestine]. / Une association malformative exceptionnelle: duplication du bas appareil urinaire, de la vulve et de l'intestin postérieur.

The authors report the case of a 6 year old girl with bladder duplication, urethral duplication, genital system duplication associated with colonic duplication and low double anorectal anomalies. This patient presented two hemivertebrae at T9 and T11. This girl died a few days after admission from internal obstruction and septicemia. The embryological features especially the possibility of associating two different embryopathogenic mechanisms in the pathogenesis of this combined malformation (Split notochord syndrome and fissure of the urogenital system), and diagnostic and therapeutic aspects are studied in relation to this case and a review of the literature.

[Wegener's granulomatosis diagnosed by orbital-meningeal presentation: a case report]. / Granulomatose de Wegener révélée par une localisation orbito-méningée : à propos d'un cas.

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.

[Spontaneous orbital hematoma: two case reports]. / Hématome orbitaire spontané: à propos de deux cas.

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.