In 1971 KEUTEL et al. described a new syndrome in two siblings presenting with peripheral pulmonary stenoses, brachytelephalangism, neural hearing loss and abnormal cartilage calcification. Recent investigations provided evidence that mutations in the gene encoding the human matrix GLA protein cause Keutel syndrome. With these new insights in the disease the symptomatology of Keutel syndrome was reassessed. The follow-up of the two siblings was studied by clinical and post mortem examination.As a new feature of Keutel syndrome tracheobronchial stenosis and concentric calcification of pulmonary, coronary, hepatic, renal, meningeal and cerebral arteries were described.Complementary KEUTEL et al.[1] described a syndrome with brachytelephalangism, abnormal cartilage calcification, neural hearing loss and peripheral pulmonary stenoses in a brother and sister born to consanguineous parents. Meanwhile Keutel syndrome was detected in 17 patients in several countries. After a follow-up study tracheobronchial stenosis and abnormal calcification in this disease is described as an important feature. Case reportsIn 1971 KEUTEL et al.[1] observed multiple peripheral pulmonary stenoses, skeletal anomalies of the extremities, deafness and heterotopic calcifications of the bronchi, trachea and cartilage of the ribs in a male born in 1961 (case 1) and his sister born in 1958 (case 2). Both had been suffering from an exertional dyspnoea since childhood. The mother of the sibs was the daughter of her husband9s cousin. Two other males and another female of the family were free of pulmonary complaints. Both children attended school and the male became a joiner and the girl a merchant. The young male never smoked and the female smoked 1 -2 cigarettes . d -1 from 1976 -1979. Case 1In 1991 the 30-yr-old male (height 1.70 m, body weight 68 kg) complained of increasing dyspnoea and cough. His craniofacial appearance was characterized by midfacial hypoplasia with a broad depressed nasal bridge. The auricles were stiff and the end phalanges of his fingers were thickened. At his thighs livid maculae were found.He presented an inspiratory and expiratory stridor and wheezing on lung auscultation. A grade 3/6 systolic murmur was heard over the heart and an additional systolic murmur over both lungs.Lung function test revealed severe obstructive airway disease without bronchodilator response, the signs of intra-and extrathoracic airway obstruction and increased thoracic gas volume (vital capacity (VC) 2.99 L, 61% pred; total lung capacity (TLC) 7.70 L, 128% pred; forced expiratory volume in one second (FEV1) 1.36 L, 34% pred; FEV1/VC 45.4%; airway resistance (Raw) 1.09 kPa6s . L -1 ; forced inspiratory volume in one second (FIV1) 0.95 L).Chest radiograph and computed tomography showed a decreased coronary diameter of the full length of trachea of 10 mm (13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25) BREATNACH et al. [2]) and a sagittal diameter of 9 mm (13 -27 mm pred, BREATNACH et al. [2]). In computed tomography the coronary di...

Summary. Background and objectives: Matrix c-carboxyglutamate protein (MGP), a vitamin K-dependent protein, is recognized as a potent local inhibitor of vascular calcification. Studying patients with Keutel syndrome (KS), a rare autosomal recessive disorder resulting from MGP mutations, provides an opportunity to investigate the functions of MGP. The purpose of this study was (i) to investigate the phenotype and the underlying MGP mutation of a newly identified KS patient, and (ii) to investigate MGP species and the effect of vitamin K supplements in KS patients. Methods: The phenotype of a newly identified KS patient was characterized with specific attention to signs of vascular calcification. Genetic analysis of the MGP gene was performed. Circulating MGP species were quantified and the effect of vitamin K supplements on MGP carboxylation was studied. Finally, we performed immunohistochemical staining of tissues of the first KS patient originally described focusing on MGP species. Results: We describe a novel homozygous MGP mutation (c.61+1G>A) in a newly identified KS patient. No signs of arterial calcification were found, in contrast to findings in MGP knockout mice. This patient is the first in whom circulating MGP species have been characterized, showing a high level of phosphorylated MGP and a low level of carboxylated MGP. Contrary to expectations, vitamin K supplements did not improve the circulating carboxylated MGP levels. Phosphorylated MGP was also found to be present in the first KS patient originally described. Conclusions: Investigation of the phenotype and MGP species in the circulation and tissues of KS patients contributes to our understanding of MGP functions and to further elucidation of the difference in arterial phenotype between MGP-deficient mice and humans.

A family with hereditary autosomal dominant hypofibrinogenemia is described. The outstanding feature is massive deposition of fibrinogen/fibrin within hepatocytes, faintly visible in routine microscopic sections, but clearly demonstrable by immunohistologic techniques. Circulating fibrinogen shows normal electrophoretic mobility of A alpha-, B beta-, and gamma-chains. We assume that the hereditary defect in this family interferes with fibrinogen release from hepatocytes. Clinically there are fluctuating slight elevations of serum transaminase levels. Hemostasis and wound healing are undisturbed.

Purpura fulminans features the sudden onset of large rapidly-spreading areas of hemorrhagic skin necrosis. This is followed by a disseminated intravascular coagulopathy with consecutive consumption of anticoagulant factors. Patients with severe disease in whom therapy is delayed often develop shock with a poor prognosis.The mortality rate is about 30-40%. An elderly women developed purpura fulminans after a respiratory infection. Prompt diagnosis before shock symptoms had started was instrumental in producing a favorable clinical course.

A 47-year-old woman, known to have coeliac disease, developed bouts of fever, up to 39 degrees C, with loss of weight and treatment-resistant diarrhoea, as well as swelling of the submandibular, axillary and inguinal lymph nodes. Tests revealed a pancytopenia (haemoglobin 8.8 g/dl, leucocytes 500/microliter, platelets 19,000/microliter), and a reduction of the Quick value to 39%. Computer tomography demonstrated extensive abdominal lymphomas. The patient's general condition quickly deteriorated, hypoproteinaemia developed (total protein 4.6 g/dl) with peripheral oedema, ascites and pleural effusion. She died before the suspected diagnosis of coeliac disease-associated malignant lymphoma could be confirmed. Autopsy demonstrated a highly malignant, pleomorphic, primary abdominal non-Hodgkin lymphoma, immunohistologically a T-cell lymphoma.