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The Marinesco-Sjogren syndrome (MSS) (MIM 248800) is an autosomal recessive condition characterised by cataracts, ataxia, and growth and mental retardation. Chronic myopathy is a common feature. Peripheral neuropathy and acute rhabdomyolysis have been described occasionally in MSS. To date, no gene for it has been localised. Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN) (MIM 604168) is a recently delineated autosomal recessive condition,1 so far only described in a specific gypsy group originating from Bulgaria. This disorder was localised by linkage analysis to 18qter, telomeric to the marker D18S1141.2 CCFDN alleles showed a highly conserved haplotype in the region D18S1141-D18S70-D18S1268 consistent with genetic homogeneity and a single founder mutation. Since then, the disease locus has been reduced to the interval located between markers D18S1095 and D18S1390.3,4 MSS and CCFDN share common clinical features and are considered to be differential diagnoses. Recently, Merlini et al 4 proposed that the CCFDN syndrome and one subtype of MSS (Marinesco-Sjogren/myoglobinuria), also only described in gypsy patients, are genetically identical. We report here the clinical and linkage analysis of one gypsy family and one Turkish family in which patients presented with congenital or juvenile cataracts and ataxia. Both families were initially diagnosed as MSS. However, our study shows that they are clinically and genetically distinct. We found that the gypsy family had CCFDN features and was linked to 18qter whereas the Turkish family had typical MSS features and was not linked to 18qter. Here, we confirm the clinical overlap between the CCFDN and MS syndromes and show that they are distinct genetic entities. ### Family 1 A sister (patient 1) and a brother (patient 2) of Turkish origin were referred to the neuropaediatric clinic because of failure to thrive, psychomotor delay, major ataxia, and hypotonia. They were the fourth and fifth children of healthy, consanguineous parents (fig …

The authors report on a female patient with stromal endometriosis. Clinical observation at the authors' clinic extended over an unusually long period, i.e., 17 years. After describing the histology, clinical symptoms, and therapeutic possibilities, the disease course, the repeated operations necessary, and the histological findings are presented in detail. In spite of the rarity of stromatosis it should be included in the differential diagnosis when diagnosing uterine sarcoma. After histological confirmation and the completion of surgical treatment of a stromatosis, recurrence and malignancy must be considered as possibilities even many years later.

During the SARS epidemic, many patients were screened according to WHO criteria but never went on to develop SARS. In May 2003, early in the epidemic, we conducted a retrospective study to describe suspected SARS patients hospitalised in France and compared them with documented cases of patients with SARS to evaluate the screening strategy. A total of 117 patients were studied. Only 3.4% had been in close contact with a SARS patient but 73.5% came from an affected area. 67.5% had fever and respiratory symptoms on their admission to hospital. 49.6% had fever and non specific symptoms. Clinical symptoms that were significantly more common among patients with SARS were fever, myalgia, dyspnoea, and nausea or vomiting. Presumed viral fever and respiratory tract infection were the most common diagnosis. Symptoms cannot be distinguished from an early stage of SARS confirming the usefulness of the WHO case definitions in isolation decision to avoid further transmission.

Epirubicin wurde beim metastasierten Mammakarzinom in Kombination mit Vincristin und Cyclophosphamid (VEC) bei 14 Patientinnen und beim fortgeschrittenen Ovarialkarzinom in Kombination mit Cisplatin und Cyclophosphamid (PEC) bei 12 Patientinnen eingesetzt. Bei der Behandlung des Mammakarzinoms wurden bei 64% Remissionen und bei 12% ein Tumorstillstand erreicht, beim Ovarialkarzinom wurden bei 75 % Vollremissionen und bei 8,3 % ein Tumorstillstand erreicht. Es traten keine relevanten myelo- oder kardiotoxischen Nebenwirkungen auf, die zum Abbruch der Therapie zwangen. Die erzielten Behandlungsergebnisse entsprechen denen, die mit Doxorubicin-Kombinationen erreicht wurden, die Toxizitat ist jedoch geringer.