[Disseminated extrapulmonary tuberculosis in idiopathic CD4-lymphocytopenia]. / Disseminierte extrapulmonale Tuberkulose bei idiopathischer CD4-Lymphozytopenie.

A previously healthy, now 42-year-old man suddenly fell ill with bouts of septic fever up to 39.5 degrees C, sweats and weight loss without any demonstrable organ involvement. Physical examination on hospitalization 3 weeks after onset of the illness was unremarkable. Blood sedimentation rate at one hour was 123 mm. There was also a moderate increase in gamma-GT and alkaline phosphatase. Routine bacteriological and serological tests failed to discover a causative microorganism. After imaging tests had provided first indication of splenic and hepatic involvement, biopsies of these two organs demonstrated disseminated epithelioid granulomas and Langhans giant cells. Staining and culturing of pelvic crest biopsy tissue showed evidence of Mycobacterium tuberculosis, but there was no evidence of pulmonary involvement. In addition to four-drug tuberculostatic treatment the patient was given glucocorticoids for several weeks to control the fever bouts. Persistent CD4+ T-lymphocytopenia was demonstrated as the cause of the entirely extrapulmonary tuberculosis in this HIV-negative patient. This is an only recently described and so far unexplained syndrome.

[Refsum's syndrome (author's transl)]. / Refsum-Syndrom (Heredopathia atactica polyneuritiformis). Klinik, Diagnostik und diätetische Behandlung.

Heredopathia atactica polyneuritiformis (Refsum's syndrome) is an autosomal recessively inherited lipidosis characterized by the following signs: peripheral hypertrophic polyneuropathy, cerebellar ataxia, atypical retinitis pigmentosa with night blindness and concentric limitation of the visual fields, anosmia, inner ear hearing disturbances, skeletal anomalies, ichthyotic skin changes, raised protein in the CSF without a cellular increase, and non-specific ECG changes. Biochemically it is a lipidosis with atypical increase of phytanic acid in blood, CSF, and tissues. The metabolic defect results from a degradation disturbance of exogenous phytanic acid. The report of a patient whose clinical picture plus chemical, neurophysiological and histological results led to the diagnosis of Refsum's syndrome is presented. Using a low phytol- and phytanic-acid diet a marked decrease of phytanic acid in the serum and an improvement of the clinico-neurological signs were observed.

Quantitative determination of glycosphingolipids in human plasma.

A method is described for the quantitative isolation and estimation of the four glycosphingolipid fractions from 10 ml of human plasma. The procedure consists of acetylation of the total lipids after extraction, separation of acetylated glycophingolipids from non-glycolipids on a Florisil column, deacetylation, dialysis in water, separation of the single fractions by thin-layer chromatography on silica gel, and quantitative analysis of each glycosphingolipid by sulfuric acid-orcinol reagent, carried out in the presence of silica gel. The concentrations of the four glycosphingolipids in human plasma derived from a group of 23 healthy subjects are presented. The procedure described is sufficiently sensitive for clinical investigation.

[Concentration of plasma glycosphingolipids in acute hepatitis (author's transl)]. / Konzentrationsverhalten der Plasmaglycosphingolipide bei akuter Hepatitis

There are mainly four neutral glycosphingolipids in human blood plasma: Monohexosyl, dihexosyl, trihexosyl and tetrahexosyl ceramide. In patients with viral hepatitis (n=21) during the acute phase all four fractions of plasma glycosphingolipids were elevated compared to healthy subjects (n=23). With the exception of trihexosyl ceramide all fractions demonstrated statistically striking elevations in the acute phase of viral hepatitis. Simultaneously in the acute phase of hepatitis triglycerides and cholesterol in serum were significantly increased. It is concluded the elevation of glycosphingolipid levels in plasma is a metabolic consequence of hyperlipoproteinemia. Furthermore it is supposed that a part of plasma glycosphingolipids is synthezised de novo by the liver like VLDL.

[Plasma glycosphingolipids: concentration and distribution in different types of hyperlipoproteinemia (author's transl)]. / Konzentration und Verteilung der Plasmaglycosphingolipide bei verschiedenen Hyperlipoproteinämien

There are mainly four neutral glycosphingolipids in human blood plasma: Monohexosyl, dihexosyl, trihexosyl and tetrahexosyl ceramide. In patients with hyperlipoproteinemia (hlp) type IIa (n = 10), type IIb (n = 9), type IV (n = 24), and type V (n = 11) all four fractions of plasma glycosphingolipids were elevated compared to healthy subjects (n = 23). In all types of hlp monohexosyl ceramides were significantly augmented (p less than 1%). Trihexosyl and tetrahexosyl ceramides demonstrated only in single types statistically striking elevation. There was no significant elevation of dihexosyl ceramides. In the VLDL the distribution of all glycosphingolipids showed increase in hlp type IV and type IIb. In the LDL the distribution showed increase in type IIa. There exists a strong correlation with the elevated prae-beta-lipoproteins respectively beta-lipoproteins. It is concluded that elevation of glycosphingolipid levels in plasma is a metabolic consequence of hyperlipoproteinemia. It is considered that a part of plasma glycosphingolipids is de novo synthesized by the liver like VLDL. The role of plasma glycosphingolipids in atherogenesis is discussed.

[Clofibrate treatment of diabetics with hyperproteinemias (author's transl)]. / Clofibrat-Therapie bei Diabetikern mit Hyperlipoproteinämien

The effect of a six weeks clofibrate treatment on lipid metabolism was investigated in a collective of 38 constantly maladjusted elderly diabetics with an average of 30% overweight and various forms of hyperlipoproteinemias. Clofibrate produced a significant lowering of the mean triglyceride and cholesterol levels, whereas no such effect was observed in an untreated control group. Related to the various types of hyperlipoproteinemia (IIa, IIb and IV), the group treated with clofibrate showed a rate of normalization of nearly 50%, while the rate of improvement in the untreated control group was 10%.

Plasma glycosphingolipids in diabetics and normals.

In diabetic patients with hyperlipoproteinemia type IV the monohexosyl ceramide concentration in blood plasma is significantly elevated. This augmentation can be attributed to an increased monohexosyl ceramide content of the BLDL plasma fraction. In contrast, the di-, tri-, the tetrahexosyl ceramide levels remain within normal limits. In normolipidemic diabetics of comparable age, sex, and weight classes and of comparable metabolic control no elevations of glycolipid fractions could be found. However, patients with primary hyperlipoproteinemia type IV show an increase of monohexosyl ceramide concentrations in blood plasma. Therefore, the augmentation of monohexosyl ceramide levels in plasma of hyperlipidemic diabetic patients seems rather a metabolic consequence of hyperlipoproteinemia than of diabetes per se. A clearcut explantation for the monohexosyl ceramide elevations in the studied groups cannot be given at present time.

[Angiokeratoma corporis diffusum (Fabry's disease). Biochemical diagnosis in plasma]. / Angiokeratoma corporis diffusum (Morbus Fabry) Biochemische Diagnostik im Blutphasma

In a 35-year-old man with the full picture of Fabry's disease there was an almost fourfold increase of trihexosylceramide concentration in plasma and a decrease in the alpha-galactosidase activity to 13 percent as compared with the values from a control group. Using the same biochemical methods it could be shown that two nephews of the patient are hemizygote carriers and that two sisters and the mother of the patient are heterozygote carriers. Causative treatment of the disease is unknown. In this patient the attacks of pain could be permanently improved with phenytoin and carbamazepin.