[Early type 2 neurofibromatosis and congenital retinal hamartoma]. / Neurofibromatose de type 2 précoce et hamartome rétinien congénital.

Neurofibromatosis type 2 (NF2) is a heritable syndrome characterized by multifocal proliferation of neural crest-derived cells. It has long been regarded as an adolescent- and adult-onset disease. We report here on a case of a 6-year-old girl with infantile-onset clinical signs. The girl, who had a history of amblyopia and congenital retinal hamartoma, presented with rough dimness of visual acuity. Cerebral magnetic resonance imaging found a left voluminous fronto-temporal tumor including the chiasma and optical nerves. Vestibular and cervical nerve schwannomas were also found. She underwent a first neurosurgical partial excision and histopathology revealed meningioma. Postoperative radiotherapy was necessary due to a secondary increase of the tumor size. Subsequent molecular testing revealed a NF2 gene abnormality. NF2 can become evident in infancy but clinical early symptomatology is often different: ocular symptoms and neurological problems are common. There is no consensus on the treatment of tumors involving the central and peripheral nervous system, abstention being usual. In case of severe signs, surgery and radiotherapy can be proposed. The diagnosis of a hamartoma must lead to multidisciplinary follow-up.

[Evaluation of peripherally inserted central catheters in a pediatric population]. / Évaluation des cathéters centraux à insertion périphérique en population pédiatrique.

A peripherally inserted central catheter (PICC) is a central venous access mostly used in France in the adult population, whereas it is only rarely used in the pediatric population. The main objective of this study was to analyze a cohort of children treated with PICCs inserted under radiological guidance. We conducted a single-center study in the Radiology department of Nice University Hospital and the Lenval Foundation Children's Hospital. During a 43-month period between November 2008 and June 2012, a total of 67 catheter placement attempts were performed in 57 pediatric patients aged from 7 months to 18 years. We achieved 95.5% technical success with a median procedure duration of 17min. Only 6% of the PICC placements required light intravenous sedation; all the others were performed using a combination of local anesthesia, EMLA cream, and equimolar mixture of oxygen and nitrous oxide (EMONO). Subjective scale analysis of pain during catheter insertion showed a median score of 2.1. Catheter life ranged from 1 to 210 days (median, 38.3 days) with the treatment fully completed in 75% of the cases. The overall complication rate was 18.7% (4.9 per 1000 catheter-days), largely dominated by mechanical complications (9.4%) such as accidental removal (6.2%) or catheter obstruction (3.1%). Infectious complications occurred in 7.8% of the patients. The duration of catheterization and the use of tape to secure the catheter significantly affected the occurrence of complications. Peripheral insertion of central catheters was highly feasible in infants and children. It is a simple, safe, and effective alternative to intravenous central devices in the pediatric population. The occurrence of complications, typically mechanical, must be reduced and prevented by strict management of this type of central line by the nursing team.

Dose finding and O6-alkylguanine-DNA alkyltransferase study of cisplatin combined with temozolomide in paediatric solid malignancies.

Cisplatin may have additive activity with temozolomide due to ablation of the DNA repair protein O6-alkylguanine-DNA alkyltransferase (MGMT). This phase I/II study determined recommended combination doses using the Continual Reassessment Method, toxicities and antitumour activity in paediatric patients, and evaluated MGMT in peripheral blood mononuclear cells (PBMCs) in order to correlate with haematological toxicity. In total, 39 patients with refractory or recurrent solid tumours (median age approximately 13 years; 14 pretreated with high-dose chemotherapy, craniospinal irradiation, or having bone marrow involvement) were treated with cisplatin, followed the next day by oral temozolomide for 5 days every 4 weeks at dose levels 80 mg m(-2)/150 mg m(-2) day(-1), 80/200, and 100/200, respectively. A total of 38 patients receiving 113 cycles (median 2, range 1-7) were evaluable for toxicity. Dose-limiting toxicity was haematological in all but one case. Treatment-related toxicities were thrombocytopenia, neutropenia, nausea-vomiting, asthenia. Hearing loss was experienced in five patients with prior irradiation to the brain stem or posterior fossa. Partial responses were observed in two malignant glioma, one brain stem glioma, and two neuroblastoma. Median MGMT activity in PBMCs decreased after 5 days of temozolomide treatment: low MGMT activity correlated with increased severity of thrombocytopenia. Cisplatin-temozolomide combinations are well tolerated without additional toxicity to single-agent treatments; the recommended phase II dosage is 80 mg m(-2) cisplatin and 150 mg m(-2) x 5 temozolomide in heavily treated, and 200 mg m(-2) x 5 temozolomide in less-heavily pretreated children.

[Chronic recurrent multifocal osteomyelitis. A diagnosis to be called to mind]. / L'Ostéite chronique récurrente multifocale. Un diagnostic qu'il faut savoir évoquer.

Chronic recurrent multifocal osteomyelitis is a rare disorder that affects children and teenagers. Clinically, it is characterized by insidious onset of local swelling and pain in several metaphyses. A symmetric, recurrent and multifocal pattern is usual. Spinal involvement is possible. Inconstant association with a cutaneous affection (palmoplantar pustulosis, acne fulminans, psoriasis), or less frequently with an inflammatory chronic gut disorder is described. Pathogenesis usually recognized is an enthesopathy. Enthesitis may progress to the osseous part of the enthese and produce an aseptic chronic osteomyelitis. Biopsy specimen with culture is certainly necessary to rule out bacterial osteomyelitis and bone tumor. It is particularly true when the bone lesion is isolated. Disease course is benign and self-limited. The clinical course is characterized by recurrences and remission occurring for 6 to 10 years. Treatment based on non steroid antiinflammatory drugs is usually effective.

[Imaging of AIDS in children]. / Imagerie du SIDA chez l'enfant.

In children, AIDS is mainly related to materno-foetal transmission. Due to antiviral therapy and prevention of infections, the initially very poor prognosis has improved and the length of survival has increased. There are two groups of children: the first (25%) in which the disease occurs early and is very severe, a second one in which the disease develops later after an asymptomatic period which can last several years. Manifestations of AIDS in children are mainly pulmonary and digestive infections, central nervous system infections are much rarer than in adults, neurologic disorders are mainly due to the HIV itself. Tumors are also rarer than in adults but may occur, including lymphomas and smooth muscle tumors.

Ultrasound contribution in the analysis of the newborn and infant normal and clubfoot: a preliminary study.

The aim of this study was to evaluate the potential use of ultrasound in the preoperative assessment of clubfoot and follow-up growth. We first studied 50 normal newborns and infants (aged 1 day to 1 year). The normal values established were reliable, dynamic and reproducible measurements allowing the assessment of osteo-articular relationships and cartilage morphology. Ultrasound appears to be more useful than radiography because it allows delineation of cartilaginous structures (which are not visible on conventional radiographs) and dynamic study of foot positions, and has no danger from radiation. A future paper will contain preliminary results of cases of clubfoot studied by ultrasound.

[Ultrasonographic surveillance of treated breast cancer]. / La surveillance échographique du cancer du sein traité.

Clinical, radiographic (mammograms) and ultrasonographic data were compared retrospectively for 171 patients to evaluate the utility of ultrasound for the follow-up of breast cancer patients treated medically or by conservative surgery. When used to follow-up patients treated medically by induction or exclusive chemotherapy, ultrasonography accurately quantified tumor and nodal regression. After conservative surgery, sonograms are an ideal means to diagnose (and sometimes to treat) early complications (hematoma, lymphocele, abscess). Ultrasonography was more sensitive than mammography for the detection of recurrent disease (95.5% sensitivity for radiography versus 90% for ultrasonography). After radical surgery and breast reconstruction, ultrasonography is the only procedure required to follow-up of patients with breast implants, because it can determine the size and penetration of cutaneous recurrences. The fact that 30% of patients treated by lumpectomy and irradiation ultimately develop malignant or benign abnormalities justifies systematic ultrasonography for the follow-up of treated breast cancers. All sonographically demonstrable abnormalities warrant ultrasound-guided puncture biopsy.

[Value of mammography in the diagnosis of breast masses in adolescents]. / Intérêt de la mammographie dans le diagnostic des masses mammaires de l'adolescente.

Breast masses in teenagers are uncommon; in most cases, the palpation of a mass by the patient herself leads to physical and radiological examination. According to the age of the patient, radiographic exams should be limited, and mammography in particular, should not necessarily be performed. Ultrasonography using a high frequency transducer is very useful when associated with physical examination, and gives an accurate diagnosis in most cases. A large isolated mass detected in a healthy young girl is usually benign (adenofibroma). Multiple small masses suggest a malignancy (metastases or hemopathy), especially if the subject has been previously treated for such a disease. Primary breast carcinoma is exceptional.

Ultrasonographic posttreatment follow-up of breast cancer patients.

Clinical, radiographic (mammograms), and ultrasonographic data were compared retrospectively for 171 patients to evaluate the utility of ultrasound for the follow-up of breast cancer patients treated medically or by conservative surgery. When used to follow patients treated medically by induction or exclusive chemotherapy, ultrasonography accurately quantified tumor and nodal regression. After conservative surgery, sonograms are ideal to diagnose (and sometimes to treat) early complications such as hematoma, lymphocele, and abscess. Ultrasonography was more sensitive than mammography for the detection of late complications and benign lesions, but was insufficient for the detection of recurrent disease (95.5% sensitivity for radiography vs 90% for ultrasonography). After radical surgery and breast reconstruction, ultrasonography is the only procedure required for follow-up of patients with breast implants because it can determine the size and penetration of cutaneous recurrences. The fact that 30% of patients treated by lumpectomy and irradiation ultimately develop malignant or benign abnormalities justifies systematic ultrasonography for the follow-up of treated breast cancers. All sonographically demonstrable abnormalities warrant ultrasound-guided puncture biopsy.

[Hepatic x-ray computed tomography. Value of delayed (6 hours) scanning in patients with normal biliary function]. / Scanographie hépatique. Utilité des coupes tardives (6 heures) chez des patients ayant une fonction biliarie normale.

Delayed hepatic CT (DH-CT) was studied in 250 patients without any major bile duct pathology. One hundred thirty-five of these patients had liver metastases. All patients were administrated 76 grams of iodine. Tolerance of the examination was good. Six hours after injection, average contrast enhancement in the normal liver was 24 HU (greater than 1.3 g/kg iodine), 22 HU (1 to 1.3 g/kg) and 14 HU (1 g/kg). Comparison of scans taken before, immediately after, and 6 hours post-injection revealed the frequent superiority of postinjection scans for diagnosis of liver metastases. Focal steatosis is the only benign pathology to benefit from DH-CT, because of the parallelism in the difference in density between the normal and steatotic tissue regardless of the time of scanning. Aside from isolated tumors requiring exploration by conventional CT (pre- and post-contrast studies), the workup of liver metastases can be optimized by postcontrast and DH-CT scans.

[Imaging of malignant lymphoma of muscular sites]. / Imagerie des lymphomes malins de topographie musculaire.

Seventeen cases of muscular lymphoma are reported (5 primary non-Hodgkin lymphoma, 11 secondary NHL, 1 secondary Hodgkin's disease). The psoas or gluteus muscle was involved in 10 cases, and the lower limb was affected in the remaining 7 cases. Nine cases of muscular extension of bone NHL are also reported. On sonograms these lesions were always large and less echogenic than adjacent structures, with no signs of necrosis before treatment. US and CT patterns were comparable for both primary and secondary lesions, regardless of the type of lymphoma or whether or not there was any previous bone lesion. Associated lymphomatous lesions were observed in 14 cases. On angiograms, muscular lymphomatous involvement presented a hypovascular pattern. While ultrasonography is an excellent monitoring technique for soft tissue lymphomas (specially for the lower limbs), a major contribution of CT is the detection and the follow-up of deep or thoracic wall lesions.

[Tomodensitometric aspects of brain lymphomas: apropos of 19 cases. Brain lymphoma]. / Aspects tomodensitométriques des lymphomes cérébraux: à propos de 19 cas. Lymphomes cérébraux.

The authors present the results of CT studies for 19 patients with cerebral lymphoma (including 12 primary tumors). CT appearances varied considerably, because 5 of the 12 primary lymphomas presented as multifocal lesions, and lesion sites included the corpus callosum (3 cases), the central caudate nucleus (4 cases), the posterior fossa (3 cases), and the cerebral hemispheres (6 cases). These findings are in agreement with literature data. Although a solitary, hyperdense and homogeneous lesion in the corpus callosum or the central caudate nucleus is indicative of cerebral lymphoma, numerous other aspects are possible and owing to the increasing frequency of this pathology should suggest this diagnosis. There is no specific appearance for secondary lymphomas, but diagnosis is often facilitated by concomitant systemic involvement.

[Echography and computed tomography in the evaluation and follow-up of uterine cancers]. / Echographie et scanographie dans le bilan et la surveillance des cancers de l'utérus.

In this review of 139 cancers of the cervix uteri and 43 cancers of the corpus uteri, the authors compare clinical, sonographic and CT data. For the 58 patients with cervical cancer who presented infiltration of the parametrium at physical examination under general anesthesia, sonography gave 11 false negative errors while CT gave 8 false positives. By contrast, for the 47 tumors staged IIb after examination under general anesthesia, sonography disclosed additional abnormalities in 20 cases and CT in 22 cases. A series of 52 disease recurrences in patients who had received curative treatment for uterine cancer was also reviewed; overall, an association of physical examination and ultrasonography had the same value as CT. In light of these results, the authors propose an algorithm for the exploration of uterine cancers in which the results of physical examination condition examination by ultrasonography or CT.

[Venous relations in cervical adenopathy. Review of a series of 300 cases]. / Rapports veineux. des adénopathies cervicales. Revue d'une série de 300 cas.

Three hundred cases of cervical adenopathies were reviewed in connection with head and neck cancers (205 patients) and lymphoma (95 patients). Overall, physical examination failed to detect such adenopathies in 83 cases. The echostructure of the cervical node was less echoic than that of the muscles in 111 cases (58 cases of lymphoma, 53 cases of metastasis), more echoic than the muscles in 185 cases (35 cases of lymphoma, 150 cases of metastasis), and nucrotic in 4 cases (2 cases of lymphoma and 2 cases of metastasis). Jugular vein thrombosis was noted in 78 cases (75 cases of metastasis, 3 cases of lymphoma); jugular vein compression without thrombosis was observed in 65 cases (35 cases of metastasis, 30 cases of lymphoma). Before histologic proof is obtained, jugular thrombosis suggests a diagnosis of metastasis, regardless of node size. The presence of nodular intraparotid lesions (12 cases) suggests lymphoma. By contrast, neither node size nor echostructure suggest the etiology of cervical adenopathies.

[The isolated pulmonary nodule. Biopsy guided by x-ray computed tomography]. / Nodule pulmonaire isolé. Biopsie guidée par la scanographie.

Transparietal CT-guided biopsy location can be successfully performed for isolate pulmonary nodules, defined as lesions with a maximal diameter of 3 cm, without any other parenchymal or mediastinal abnormality. A 21 G needle has been used according to an identical protocole in 64 cases (10 benign, 54 malignant). The biopsy was successful in 77.7% of the malignant cases. In relation to the diameter of the nodules, biopsy was successful in 66.7% of the nodules smaller than 2 cm and in 76% of the nodules ranging from 2 to 3 cm. The complications observed were rare (1 case of pneumothorax requiring drainage, 9 cases of pneumothorax without clinical signs and simply followed up, 4 cases of minor hemoptysis requiring no treatment and 5 cases of hematomas smaller than 5 cm on CT).

Bone marrow metastases in children's neuroblastoma studied by magnetic resonance imaging.

Forty-one patients (pts) presenting with a neuroblastoma underwent 52 MRI to detect bone marrow metastases. Mean age was 4 years. Acquisitions were done with a 1.5 tesla unit. T1 and T2 weighted images were obtained in coronal (legs and pelvis) and sagittal (dorso-lumbar spine) sections. In 13 cases MRI was performed for initial staging, in 30 during the follow-up. 43/52 examinations were evaluable. Out of 24 anatomically proven medullary involvement (19 pts), MRI showed focal abnormal signals in 23 (18 pts): foci hypersignal in T2 weighted images and hyposignal in T1 weighted images compared to the normal bone marrow (BM) and fat tissue. The lesions were more often detected in lower limbs than dorso-lumbar vertebral body or iliac bone. Nineteen examinations were performed in 15 pts with cytologically and histologically normal BM. MRI raised suspicion of BM metastases in 5 pts (7 MRI). Out of those 5 pts, 1 (2 MRI) had BM relapse 9 months later; 1 (2 MRI) had intra cranial relapse 6 months later; 1 (1 MRI) is disease free 1 1/2 year later; the follow-up is too short for 2 remaining pts (2 MRI). MRI's specificity was 88.9% and sensitivity 84.4%.