A normal platelet count at admission in acute meningococcal disease does not exclude a fulminant course.

OBJECTIVE: To determine the value of the platelet count at admission for the assessment of the severity of disease in acute meningococcal infections. DESIGN: Retrospective and prospective, descriptive patient study. SETTING: University Hospital Intensive Care Unit (ICU). PATIENTS: All patients (n = 92) with acute meningococcal disease from 1985 to 1997, who arrived at the ICU within 12 h after hospital admission and had more than one platelet count during the first 12 h. MEASUREMENTS AND RESULTS: After admission, platelets dropped in 95% of the patients. At admission, 2/41 (5%) of the non-hypotensive patients and 13/51 (25%) of the hypotensive patients had platelets fewer than 100 x 10(9)/l. During the following 12 h, these percentages increased to 15% and 71%, respectively. Fatalities had, at admission, a median platelet count of 111 x 10(9)/l (range, 19-302 x 10(9)/l), whereas the nadir, occurring at median 7.0 h (range, 1.3-12 h), was 31 x 10(9)/l (range, 12-67 x 10(9)/l). Plasma TNF, measured shortly after admission, correlated better with the platelet nadir (r = -0.65, p < 0.0001) than with the platelet count at admission. Similarly, serum lactate correlated better with the platelet nadir. CONCLUSIONS: As platelets drop after admission, the use of the platelet count at admission for the assessment of the prognosis in acute meningococcal disease may be misleading. Frequently repeated platelet counts are a better tool for evaluating the severity of disease.

[An unsuspected imported disease: meningo-encephalitis contracted in Spain]. / Een niet-vermoede importziekte: meningo-encefalitis opgelopen in Spanje.

A 13-year-old boy consulted a doctor during a holiday in Spain because of high fever, headache and exanthema. A local physician prescribed josamycin, but the medication was lost due to vomiting. A few days later, shortly after returning to the Netherlands, he was hospitalised with a life-threatening neurologic and multi-organ failure. It took two weeks before the diagnosis 'Mediterranean spotted fever' was made and an appropriate antibiotic treatment was started. The patient made a slow but successful recovery. Rereading the hand-written Spanish medical report revealed that it had mentioned a correct diagnosis and adequate treatment. An apparently safe holiday destination thus does not exclude an imported disease. Knowledge of local epidemiology and good communication with the locally consulted medical system are essential for a correct diagnosis and therefore for appropriate treatment and a good prognosis.

Spongy cardiomyopathy in a neonate.

Isolated noncompaction of ventricular myocardium is a rare cardiomyopathy, presumed to originate from a developmental abnormality in the evolution of the heart, and resulting in sponge-like myocardium. Isolated ventricular noncompaction can present with a variety of symptoms, but usually includes heart failure. The diagnosis is often made by echocardiography, which reveals a very distinct image of the myocardium, with many deep, confluent recesses and dense trabeculations. We encountered such findings in a moribund neonate presenting with cardiogenic shock with extremely low shortening fractions. After treatment with intravenous and oral cardiotonics, coupled with afterload reduction, we were able to optimize the balance between ventricular filling and myocardial contractility, resulting in markedly improved cardiac function as judged clinically, and as measured by echocardiography. As far as we know, this is one of the youngest patients yet reported to have a good recovery.

Central venous catheter associated thrombosis of major veins: thrombolytic treatment with recombinant tissue plasminogen activator.

OBJECTIVE: Major thromboses can occur in the venous system in association with central venous catheters. This usually necessitates removal of the catheter. METHODS: The effectiveness of low dose recombinant tissue type plasminogen activator (rt-PA) in combination with heparin was assessed in patients with central venous catheter associated thrombosis. RESULTS: In five patients, all suffering from cancer, a 5-7 day continuous infusion resulted in complete lysis of the thrombus without complications in three. In the other two patients moderately severe haemorrhage was observed with only partial lysis, of the thrombus. CONCLUSIONS: The infusion of heparin and rt-PA is potentially effective in thrombosis related to use of central venous catheters, but the risk of haemorrhage is not inconsiderable.

Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation.

Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart and hepatosplenomegaly. This was confirmed biochemically by the demonstration of glycogen accumulation in skeletal muscle and undetectable acid alpha-1,4-glucosidase activity in fibroblasts. Further biochemical studies in this patient surprisingly revealed homocystinuria and methylmalonic aciduria, suggesting a defect in the uptake, transport or intracellular metabolism of vitamin B12. Studies in cultured fibroblasts from the patient revealed a low uptake of [57Co]cyanocobalamin and an impaired intracellular conversion to both 5'-deoxyadenosylcobalamin and methylcobalamin. Moreover, the incorporation of labelled propionate into proteins as well as the formation of labelled methionine from labelled 5-methyltetrahydrofolate was deficient in fibroblasts from the patient. Complementation studies revealed the presence of the cblC mutation in this patient. No treatment was initiated and the patient died at the age of 31 days. We conclude that the patient was affected by both glycogen storage disease type II and cblC disease. The remarkable combination of these two rare inborn errors can be the result of the consanguinity of the parents.

Successful treatment with voriconazole of invasive aspergillosis in chronic granulomatous disease.

A 5-year-old boy with chronic granulomatous disease (CGD) was treated with amphotericin B for an invasive pulmonary Aspergillus nidulans infection. The infection progressed during 6 wk of treatment despite the addition of interferon-gamma (IFN-gamma), filgrastim, and transfusions with donor granulocytes. Treatment with a novel antifungal triazole, voriconazole, resulted in an excellent clinical response.