[Contribution of multimodal imaging in the various stages of Stargardt disease]. / Intérêt de l'imagerie multimodale dans les différents stades de la maladie de Stargardt.

PURPOSE: To describe the contribution of multimodal imaging in the various stages of Stargardt disease (STGD). PATIENTS AND METHODS: We retrospectively reviewed 46 eyes of 23 STGD patients with identified ABCA4 mutations. All patients underwent a complete ophthalmic examination, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), fluorescein angiography (FA) and Indocyanine green angiography (ICGA). RESULTS: The mean age of patients was 25.5 years (range 8-56). Fundus examination was normal in 2 patients (subclinical stage), where SD-OCT showed localized retrofoveolar retinal pigment epithelium (RPE) thickening. FAF was normal in 1 eye and showed mild heterogeneous hyper-FAF in 3 eyes. Twelve eyes had mild salt and pepper changes in the macula (early stage) with diffuse retinal atrophy on SD-OCT and mixed hyper and hypoautofluorescence on FAF. Nine patients showed central atrophy with white-yellow flecks distributed in the posterior pole and mid-periphery. This phenotype showed total foveal atrophy on SD-OCT and normal peripapillary area on FAF. Twelve eyes had a large demarcated area of RPE atrophy, pigment clumping and migration extending to the peripheral retina associated with peripapillary atrophy. These eyes showed diffuse retinochoroidal atrophy on OCT with diffuse alterations reaching the peripapillary area on FAF. On FA, it was difficult to analyze the choroidal silence sign in patients with advanced stages of the disease. A hyperfluorescent window defect pattern was also found in patients with white-yellow flecks and did not correspond exactly to them, or to the areas of peripheral autofluorescent lesions. ICGA showed hypocyanescent areas seen at intermediate and late phases with multiple cyanescent points adjacent to them. On ICGA, hypocyanescent areas were more extensive than lesions observed on FAF. CONCLUSIONS: Multimodal imaging is helpful for the diagnosis of early stages of STGD disease and to better understand its pathophysiology. FAF and mostly SD-OCT have supplanted FA in the early, especially subclinical, stages. Over all, ICGA shows more extensive damage, making this tool useful for better understanding STGD and suggesting possible direct damage to the choriocapillaris associated with RPE lesions. In advanced stages, only DNA testing can confirm the diagnosis of STGD.

[Prenatal diagnosis of abdominal wall defects]. / Diagnostic anténatal des anomalies de la paroi abdominale antérieure.

Anterior abdominal wall defects (AAWD) correspond to a wide spectrum of congenital defects affecting 6.3/10,000 pregnancies. They have in common a closure defect of the anterior abdominal wall and can be fatal or expose the fetus and the neonate (NN) to many complications. This study was based on a retrospective study of 22 cases of AAWD collected between May 2009 and December 2014. Its purpose was to specify the importance of prenatal ultrasonography in the diagnosis and prognosis assessment of these defects. These 22 AAWDs consisted in 13 cases of omphalocele (including four cases of Beckwith-Wiedemann syndrome), four of gastroschisis, one of pentalogy of Cantrell, three of vesical exstrophy and one of cloacal exstrophy. Prenatal ultrasonography provided the diagnosis of 14 of these defects with a changing sensitivity with the gestational age varying from 17% in the first trimester to 71.4% and 77.8% in the second and third trimesters, respectively. The relevance of this examination was improved when performed by an imaging specialist. The prenatal diagnosis of these defects indicated an amniocentesis in eight cases, allowing the diagnosis of two cases of trisomy 18. It also motivated a therapeutic termination of the pregnancy (TTP) in ten cases. Prenatal ultrasonography allowed better prenatal follow-up and planning of the delivery of the continued pregnancies. It indicated an emergency C-section in only one case by showing intestinal complications of gastroschisis. Four NNs died (two cases of omphalocele and two of gastroschisis), three of which postoperatively and the prenatal diagnosis did not improve survival. Prenatal ultrasonographic diagnosis provided a precise morphological study determining the type of the AAWD, a complete malformation assessment, and the prognosis factors. This resulted in adequate multidisciplinary pre and postnatal care, including a rigorous ultrasound follow-up, a TTP in case of associated defects, and emergency delivery once the complications of poor diagnosis are detected.

[Optical coherence tomography and fundus autofluorescence in Best macular dystrophy]. / Aspects tomographiques et en autofluorescence du fond d'œil dans la maladie de Best.

Best vitelliform macular dystrophy is the second most frequent hereditary maculopathy, with bilateral involvement and juvenile onset. It is clinically characterized by bilateral deposits of lipofuscin-like autofluorescent material in the subretinal space, with a typical phenotypic manifestation taking the form of a vitelliform macular lesion evolving gradually into more advanced stages. The purpose of our study was to describe fundus autofluorescence patterns and OCT findings in three patients (6 eyes) with several stages of Best vitelliform macular dystrophy. Optical coherence tomography (OCT) has become the first imaging technique to order when confronted with a hereditary maculopathy suggesting Best disease. Fundus autofluorescence combined with OCT allow for better diagnosis and management, which are necessary for any genetic analysis.

[SD-OCT contribution in congenital achromatopsia diagnosis (6 patients)]. / Contribution du SD-OCT de la macula dans le diagnostic de l'achromatopsie congénitale : à propos de 6 patients.

PURPOSE: Achromatopsia (ACH) is a congenital autosomal recessive cone disorder. The puspose is to describe particular SD-OCT macular images in ACH. METHODS: The study included 6 patients from 3 consanguineous Tunisian families with congenital nystagmus and amblyopia with ACH. All patients had clinical examination with fundus photography, autofluorescence, 100-Hue Color vision and the appearance and thickness of all retinal layers were evaluated by spectral-domain optical coherence tomography (SD-OCT). RESULTS: All patients had ACH. The feature was loss of inner- and outer-segments (IS/OS) with disruption of the ciliary layer on OCT and an appearance of partial-thickness hole in the outer macular retina. CONCLUSION: This feature seems to be characteristic of ACH. SD-OCT correlated to clinic signs help the diagnosis.

[Factors linked to foveoschisis in high myopia]. / Étude des facteurs associés au fovéoschisis dans la myopie forte.

PURPOSE: To investigate the factors linked to foveoschisis in high myopia. METHODS: Retrospective study of 113 patients (200 eyes) with high myopia was conducted between January 2010 and June 2012. Subjects underwent a complete ophthalmic examination, spectral domain optical coherence tomography (OCT TOPCON 2000) and ocular echography. RESULTS: Of the 200 eyes, 22 (11%) had foveoschisis on OCT examination. On the basis of univariate analysis, five variables were associated with the pathologic changes, including spherical equivalent over 10 diopters (P=0.044), axial length over 30 mm (P=0.0028), macular chorioretinal atrophy (P=0.0009), posterior staphyloma (P=0.0007) and vitreoretinal interface factors (P=0.0002). In the multivariate analysis, three factors were independently associated with foveoschisis in high myopia: axial length (adjusted OR, 16.7; IC 95% 1.4-219.7, P=0.036), macular chorioretinal atrophy (adjusted OR, 13.2; IC 95%, 1.3-133.1, P=0.044), and vitreoretinal interface factors (adjusted OR, 36.1; IC 95%, 3.5-376.9, P=0.002). CONCLUSIONS: In our study, axial length, macular chorioretinal atrophy, and vitreoretinal interface factors were independently associated foveoschisis in highly myopic eyes.

[Chondromyxoid fibroma. A case report of location in the phalanx of the thumb]. / Le fibrome chondromyxoïde. A propos d'une localisation phalangienne du pouce.

Chondromyxoid Fibroma is a rare benign osseous tumor especially in the hand, because the hand represents less than 3% of all osseous locations. It can causes problems of differential diagnosis with several types of tumors and in particular with chondrosarcoma, for which the management is totally different. We report a case of location of a chondromyxoid fibroma in a phalanx of the thumb, which caused problems of differential diagnosis with chondroma and chondrosarcoma. There were 2 recurrences after local excision. A wide resection with massive cancellous aotograft prevented further recurrence and the patient is disease free with a follow up of 7.5 years.

[Digital lengthening by gradual distraction]. / Les allongements digitaux par distraction progressive.

The authors report their experience of digital lengthening and analyze the indications and results of 12 cases performed over 13 years in the plastic and reconstructive surgery service of the Kassab institute. Distraction was performed using a mini-orthofix device. In majority of cases, the procedure was performed on young people, manual workers and victims of industrial accidents. The lengthened osseous segment was the 1st metacarpal in 7 cases, the proximal phalanx of the index in 3 cases, the 3rd metacarpal once and the proximal phalanx of the middle finger in one case. Gradual distraction at the rate of 0.25 to 0.5 mm/day was carried out in 10 cases using the procedure of "callotasis". In 2 cases the distraction was performed at a rate of 1 mm/day followed by bone graft. Callotasis allowed us to obtain an average lengthening of 17 mm (61.5%) in distraction of the phalanx, and 26 mm (63.3%) in distraction of the first metacarpal. This technique avoids the spontaneous shortening observed after the use of bone graft alone. Complications are relatively frequent but had little influence on the final result.

[Chondrosarcoma of the hand]. / Les chondrosarcomes de la main.

The authors report 5 cases of chondrosarcoma of the hand brought together over a period of 20 years. The series comprises 3 men and 2 woman of average age 42 years. In two cases the tumour arose from degeneration in a preexisting lesion of Ollier's disease. Diagnosis was made on clinical and radiological criteria. Confirmation of the diagnosis by histological examination proved to be difficult in 2 cases. The treatment was surgical, with ray amputation in 3 cases and curettage with bone graft in the other 2. None of the patients had a recurrence at 4.5 years mean follow-up.

Focal myelin thickenings in a peripheral neuropathy associated with IgM monoclonal gammopathy.

Nerve biopsy in peripheral neuropathies associated with an IgM monoclonal gammopathy may occasionally display focal myelin thickenings. In a patient with such an IgM neuropathy, in whom an anti-myelin-associated glycoprotein (MAG) antibody activity was present in the serum, single-fiber preparations revealed 34% of internodes bearing myelin swellings. The morphometric, morphological and ultrastructural findings were reminiscent but not identical to those of the hereditary tomaculous neuropathy with liability to pressure palsies. Atypical features for tomacula included lack of spiralization of the redundant loops of myelin around the axons and their predominant external situation with regard to the myelin sheath. The frequent colocalization of myelin thickenings and the widening of myelin lamellae typical of IgM neuropathies, are highly suggestive of some pathogenetic link between the two abnormalities. The redundant loops of myelin in IgM neuropathies possibly result from a defect in the axon-myelin adhesion secondary to the binding of IgM on an epitope of MAG directly involved in cell-cell adhesion.