[Familial orthochromatic leukodystrophy: clinicopathological study of two cases]. / Leucodystrophies orthochromatiques familiales.

This paper reports the clinico-pathological data in a French family with orthochromatic leukodystrophy. The parents were first cousins and had seven children. Among those, two sisters and one brother presented with neurological signs, with onset around the 5(th) decade, including a dementing syndrome of frontal type, a tetrapyramidal syndrome, seizures, and, in one sibling, a cerebellar syndrome. CT scan or MRI showed diffuse involvement of the white matter. The neurological signs worsened progressively leading to death within 11 and 22 months. Neuropathological examination was performed in two cases. It revealed characteristic orthochromatic leukodystrophy. In one case, the presence of pigmented macrophages and astrocytes was suggestive of Van Bogaert and Nyssen disease. However there were some atypical features including the absence of pigmented cells in the second case whose clinical course was shorter, and the cavitary appearance of the white matter changes with a relative increase in the number of oligodendrocytes raising the issue of a possible link between this condition and cavitary orthochromatic leukodystrophies.

Adult Henoch-Schönlein purpura associated with malignancy.

OBJECTIVE: Malignancies are among the well-established causes of vasculitis. We studied the association between adult Henoch-Schonlein purpura (HSP) and malignant neoplasms. METHODS: We retrospectively reviewed 14 cases of adult HSP diagnosed during a 6-year period and found a malignant neoplasm in four. Fifteen reports of adult HSP with malignant disease were identified in the literature. These 19 cases were compared with 158 adults who had HSP but no malignancy and who where reported in the literature. RESULTS: Most (63%) of the malignant neoplasms associated with adult HSP were solid tumors: lung, n = 6; prostate, n = 2; breast, n = 1; renal, n = 1; stomach, n = 1; and small bowel, n = 1. Hematologic malignancies (37%) included non-Hodgkin lymphoma, n = 2; Hodgkin disease, n = 2; IgA multiple myeloma, n = 1; myeloproliferative disease, n = 1; and myelodysplastic syndrome, n = 1. Patients with malignancy were older (median age, 59 years), were more likely to be male (M/F = 8.5), had joint involvement more frequently (95%), and had a lower frequency of prior acute infection than those without malignancy. A typical paraneoplastic course was documented in only two cases. CONCLUSIONS: Epidemiological studies are needed to determine the association between adult HSP and malignancy. In practice, it may be wise to suspect a malignancy in men older than 40 years of age who develop HSP in the absence of a precipitating factor. Pathogenic hypotheses involve tumor antigens or abnormal IgA production leading to immune complex formation.

[Ulcer of the esophagus disclosing probable malignant histiocytofibroma of the posterior mediastinum]. / Ulcère suspendu de l'oesophage révélant un probable histiocytofibrome malin du médiastin postérieur.

We report the case of a 72-year-old woman hospitalized for dysphagia and odynophagia due to an ulcer of the esophagus. Thoracic CT-scan and esophageal endosonography revealed a tumour of the mediastinum which invaded the esophagus. Per-operative biopsies concluded to a probable malignant fibrous histiocytoma.

Chondromyxosarcoma: a rare form of bone neoplasm in children.

The case described is interesting for its unusual presentation related to its uncommon onset in youth and its revelation by a fracture which led to a first erroneous pathological diagnosis. In fact, retrospective analysis of the CT showing peripheral condensation could suggest the malignant chondroïd nature of the tumor. Subsequent radiological follow-up demonstrated the rapid growth of the tumor hence exhibiting a very invasive form. Myxoïd differentiation is commonly related to aggressive chondrosarcoma.

[Surgically treated syphilitic gumma of the brain. Computerized tomography findings]. / Gomme syphilitique cérébrale opérée. Données du scanner X.

Syphilitic gumma is now exceptional. Symptomatology is non-specific and frequently, as in the case reported here, the onset is marked by a localized or generalized convulsion. A space-occupying lesion is recognized by angiography and CT. The precise diagnosis is suggested by evidence of arteritis or of a hypodense mass outlined by contrast or slight calcifications and confirmed by positive serology in a patient with a suspected cerebral tumor. In some cases a positive diagnosis can be made only by pathological examination after surgical ablation of the gumma. An area of central necrosis is surrounded by a granulomatous layer rich in plasmocytes (the polyclonal nature of the secretion is shown by immunocytochemistry) and a peripheral fibroblastic zone. The arteries are ensheathed by a dense inflammatory infiltrate constituted almost entirely by plasmocytes and their lumens are either stenosed or filled with endarteritic debris. Surgical treatment should be combined with penicillin administration. For a patient in good general condition with a suspected gumma, medical treatment can be given initially, with follow-up by CT, neurosurgery being indicated only in case of failure of medical therapy. The rarity of gummata in relation to other tertiary syphilitic lesions remains unexplained. The patient reported here had multiple infections including one due to cytomegalovirus after ablation of the gumma, highly suggesting an immunity disorder.

[Polyradiculopathy associated with bullous pemphigoid (author's transl)]. / Polyradiculonévrite associée à une pemphigoïde bulleuse.

A sensorio-motor polyradiculopathy of subacute onset and a bullous pemphigoid form of herpetiform dermatitis (Dühring-Brocq disease) developed simultaneously in a 71-year-old man. Both conditions regressed under the influence of prednisone and azathioprine. The immediate cortico-dependence of the skin condition should be noted. Death occurred 9 months later, related to diffuse pulmonary aspergillosis. A paraneoplastic aetiology was sought unsuccessfully.

[Aortic ruptures in traffic accident traumatology]. / Les ruptures aortiques en traumatologie routière

8 cases of rupture of the aorta seen in a series of 62 autopsies were studied in the context of a multidisciplinary enquiry into road accidents. In the light of these cases, the literature and experimental findings, different mechanisms are described, an essential step in the prevention of this lesion which is the main cause of death in 15 p. cent of cases.

[Circular fractures of the skull base during traffic accidents]. / Les fractures circulaires de la base du crâne au cours des accidents de la route

With reference to 5 cases of circular fracture of the base of the skull occurring in relation to road accidents, the literature is reviewed. Two different types may be distinguished: --"compression" fractures, --"hyperextension' fractures, the latter being special on the basis of the site of the fracture line and the application of forces via the face or chin. Reconstruction of trajectories during accidents, on the basis of the anatomical lesions and the damage caused to vehicles, as well as the study of films made during the experimental reproduction of similar lesions, make it possible to explain the mode of production of these hyperextension fractures. Such understanding is essential to the study of safety precautions for vehicle occupants.