Search

Relapsing fever is an infectious disease caused by Spirochaetes. The presentation is characterised by recurrent episodes of fever.At the end of her trip through South Africa and Botswana, a 54-year-old woman had symptoms of fever and dry cough. Back in the Netherlands, physical examination at the emergency department did not reveal any abnormalities besides fever. Laboratory investigation found thrombocytopenia and elevated infection markers. Thick blood smear revealed the presence of Spirochaetes. Following a working diagnosis of 'relapsing fever', the patient was treated with doxycycline. There was no Jarisch-Herxheimer reaction. At a follow-up outpatient appointment two weeks later, the patient had fully recovered.Relapsing fever is a rare disease without specific symptoms. The diagnosis is therefore easily overlooked. Untreated, mortality is high. During episodes of fever, the diagnosis can be established with a thick blood smear.

Revision of the rabies policy in the Netherlands The WHO aims to eliminate dog-transmitted rabies deaths in humans by 2030 ('zero by 30'). The Dutch rabies policy advisory board has revised its national rabies guidelines on the basis of the WHO guidelines revised in 2018. In the revised Dutch guidelines, there is increased focus on the importance of instant wound care after potential exposure to the rabies virus. Pre-exposure prophylaxis (PrEP) is limited to two vaccines given on days 0 and 7, rather than the previous regime of three vaccines. Post-exposure prophylaxis (PEP) no longer consists of five vaccines for unvaccinated individuals; instead it is four vaccines on days 0, 3, 7, and 14-28. For type III wounds, when indicated, rabies immunoglobulin (RIG) is only injected into and around the wound bed; residual volumes are no longer administered intramuscularly. RIG no longer needs to be administered in cases of potential mucosal contact exposure to the rabies virus where there is no injury. The vaccination scheme for PrEP (3) and PEP (5) does not change for immunocompromised patients, and RIG is administered regardless of the vaccination status of the affected individual.

Neonatale hyperammoniemie is een levensbedreigende situatie. De klinische verschijnselen zijn niet specifiek. Vroege onderkenning en kennis van de pathofysiologie kunnen leiden tot snelle en adequate interventie. Het is van belang om bij iedere pasgeborene met een onverklaard ernstig ziektebeeld de ammoniakconcentratie in het bloed te bepalen. Gedegen lichamelijk onderzoek en gerichte aanvullende diagnostiek helpen bij het stellen van de juiste diagnose. In dit artikel wordt aan de hand van drie ziektegeschiedenissen ingegaan op pathofysiologie en differentiele diagnose van neonatale hyperammoniemie.

Mucopolysacharidose type 1 (MPS I) is een zeldzame, autosomaal recessieve, lysosomale stofwisselingsziekte. De klinische presentatie van MPS I is opvallend variabel, varierend van de zeer ernstige vorm (het Hurler-fentoype) tot het relatief milde ‘Scheie’-fenotype. Vroege herkenning van MPS I is zeer belangrijk aangezien het succes van de behandeling (hematopoietische stamceltransplantatie bij het Hurler-fenotype en enzymvervangingstherapie bij het Scheie-fenotype) deels afhangt van een tijdige start. Kenmerkende klachten van MPS I zijn onder meer: (terugkerende) hernia inguinalis en umbilicalis, frequente bovenste luchtweginfecties, thoracolumbale kyfose, obstructieve slaapapneus, verstijving in de gewrichten en corneatroebeling. Het ziektebeeld wordt geillustreerd aan de hand van twee casus.

A 23-year-old woman was working in a factory unpacking jars of Spanish olives when a spider bit her finger. She presented to the emergency outpatient department carrying the spider in a box. She was worried and wanted to know whether the spider, which may have originated from Spain, was poisonous. After a ten minute Internet search the spider was identified as Segestria florentina. It can inject neurotoxins causing temporary local numbness and pain. The patient was reassured and discharged without further treatment. Later, experts confirmed the species. Internet-based search engines can draw attention to unusual diagnoses which otherwise may easily be overlooked. A general search engine can also provide access to subjects that fall outside the scope of the more usual medical sources.

In three young patients who presented with bilateral cataracts the cause proved to be an inherited metabolic disease. The first patient was a newborn aged 7 weeks, in whom galactokinase deficiency was diagnosed. The second patient was a boy aged 8 years with cerebrotendinous xanthomatosis. The third patient was a girl who was diagnosed with cataracts at the age of 3 months. At the age of 4 years the diagnosis 'rhizomelic chondrodysplasia punctata' was established. Screening for metabolic disorders in all children with bilateral cataracts is essential, as in some disorders progressive and severe symptoms can be avoided with timely initiation of treatment. In addition, diagnosis allows for family studies and genetic counselling to take place. This may result in prevention of disease by early therapeutic intervention and prenatal screening.

Menkes disease is an X-linked recessive disorder characterized by neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene. The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ubiquitously expressed. A defect of the ATP7A protein leads to both a reduced transport of copper from the intestine into the circulation and into the central nervous system, as well as reduced transport of copper into the Golgi apparatus for incorporation into various copper-dependent enzymes. This results in a systemic copper deficiency as well as reduced activity of various copper-dependent enzymes. The reduced activity of these copper-dependent enzymes accounts for most of the characteristic features ofMenkes disease patients.

To describe the outcome of 21 successive patients with falciparum malaria treated with artemether-lumefantrine in 6 oral doses of 80-480 mg in 96 hrs (5-day schedule).Retrospective cohort study.The data on all successive patients with falciparum malaria that were treated with artemether-lumefantrine in the Leiden University Medical Centre (n = 15) and the Bronovo Hospital (n = 6), the Netherlands, during the period from August 2003 to February 2006 were evaluated.Ten patients with uncomplicated falciparum malaria were treated exclusively with artemether-lumefantrine; time to parasitological clearance was less than 48 hrs in 5 out of 6 tested patients. The mean admission time was 1.3 days (95% CI: 0.7-1.9). 6 patients with non-severe falciparum malaria were initially treated with intravenous quinine because of vomiting; artemether-lumefantrine was started after an average of 0.9 days. Parasite clearance required more than 48 hrs in all patients. The mean admission time was 3.8 days (95% CI: 2.7-4.9). 5 patients had severe falciparum malaria. They received artemether-lumefantrine 4-24 hrs after starting quinine therapy. The parasite count was0.1% after an average of 1.5 days (95% CI: 0.3-2.7). The mean admission time was 4.2 days (95% CI: 2.2-5.2). The serum level of lumefantrine wasor = 500 microg/l (target value) in 9 out of 10 tested patients.Treatment of falciparum malaria with artemether-lumefantrine according to a 5-day schedule resulted in a swift recovery and short admissions. No relapses were reported.

Yellow fever is a tropical virus disease characterised by high fever, jaundice, heart and kidney failure, and haemorrhagic diathesis. The causative Flavivirus is endemic in parts of tropical Africa and South America and is transmitted among humans and primates by mosquitoes. The chance that an unvaccinated traveller to West Africa will die of yellow fever is estimated at 1:650 to 1:5000 visitors per month of stay, depending on whether an epidemic occurs. Vaccination with the attenuated yellow fever Asibi 17D virus results in limited virus replication in the body and long-term protection due to the formation of neutralising antibodies. Vaccination is contraindicated in immunocompromised persons. Serious disseminated disease and encephalitis due to infection with the vaccine virus strain are seen more often in the elderly. One should therefore refrain from vaccination in persons over 60 years of age when the risk of infection is negligible. In recent years, the number of yellow fever epidemics has risen substantially, particularly in West Africa and the Amazon region. Reintroduction of yellow fever vaccination in childhood vaccination programmes is necessary in endemic areas to turn the tide of increasing outbreaks of yellow fever.

The diagnosis of mood disorders in patients with a personality disorder is complex because there may be a significant overlap of symptomatology between both disorders. A 33-year-old man with a borderline personality disorder, for which he had been treated for several years with marginal success, developed a depression that was not recognised and treated until late. Besides the similarity between the two disorders, emotional and personal factors on the part of the physician played an important role in the failure to diagnose the depression. In such complex situations, the use of practice guidelines may be helpful because these prescribe professional attitudes that, in this case, would probably have prevented the non-recognition of the depression.

A 58-year-old entomologist presented with disabling arthralgia after a recent visit to the Northern Territory of Australia. A faint maculopapular rash was noticed on the trunk and limbs. The presumptive diagnosis of RRV disease was confirmed by the finding of IgM and IgG antibodies against RRV in serum. RRV, a mosquito-transmitted alpha virus, is the most common cause of arboviral disease in Australia. This disease, initially referred to as epidemic polyarthritis, is characterised by joint pain, rash and constitutional manifestations. The reservoir of RRV are marsupials, other mammals and birds, but mosquitoes may also transmit the disease between humans. The diagnosis is mainly based on RRV-specific serology. In case of arthritis viral RNA sometimes can be detected in synovium biopsies by PCR. No specific therapy is available; the prognosis is favourable. Prevention is based on protection against mosquito bites by wearing clothes to protect the skin, and by using insect repellents.

In a 3-year-old boy alkaptonuria was diagnosed. From early age on gradual dark discoloration of his urine had been noticed in the diapers, but routine urinalysis had not revealed abnormalities. Alkaptonuria is a rare metabolic disease in which homogentisic acid cannot be metabolised, due to a lack of the enzyme homogentisic acid oxidase. The disease often manifests itself in childhood by darkening of urine on standing. The excretion of homogentisic acid in urine in these patients is increased. The disease leads to serious consequences, such as ochronosis of cartilage and connective tissues with arthritis. It is expected that treatment with ascorbic acid and a dietary restriction of protein (1 g/kg/day) can decrease the late and serious consequences by diminishing the serum concentration of the metabolite benzoquinone acetic acid.

Amoeboma was diagnosed in three patients: a Bengal seaman aged 40 and two Dutch citizens who had lived in the tropics, a man aged 41 and a woman aged 56. The first-mentioned patient had a rectal tumour easily inspected by sigmoidoscopy; a biopsy sample contained Entamoeba histolytica. The faeces contained no cysts. The two other patients had coecal amoebomas. They had been operated elsewhere on suspicion of appendicitis and had been treated with metronidazole, which had failed to eliminate the amoebae. The faeces still contained cysts. One patient had trophozoites in a biopsy sample. The serum of all three patients contained anti-amoeba antibodies. Two patients were treated successfully with a combination of metronidazole (a tissue amoebicide) and diloxanide (a lumenal amoebicide). In one patient this combination failed, and emetine had to be substituted for the metronidazole, also because of an allergic reaction. Amoeboma of colon or rectum is one of the many manifestation forms of amoebiasis, but it is rare. While in amoebic colitis tissue necrosis (histolysis) is encountered almost exclusively, in amoeboma there is a violent inflammatory reaction with formation of a pseudotumour by granulation tissue, possibly due to secondary bacterial infection. Endoscopy and determination of circulating antibodies against the causative agent E. histolytica have by now improved the diagnosis so much that adequate treatment without surgical intervention is possible in principle. As with so many exotic diseases, a stay in the tropics is the key to the diagnosis.

Autosomal dominant polycystic kidney disease is described in a premature infant. A review is given of recent diagnostic procedures and consequences of early diagnosis.