Clinical Reports

97. microcytosis in an african patient

Fri, 31 Dec 2010 09:58:14 +0100

A 27 year-old Senegalese man who had been living in Spain for the last 3 years attended the emergency ward with epigastric and umbilical pain accompanied by malaise. On physical examination he was febrile (38 º C) with right-sided abdominal tenderness. Blood tests showed: Hb 14 g / dl, MCV 73.5 fl, WBC 7470/μl, platelets 299,000/μl, fibrinogen 412 mg / dl, glucose 142 mg / dl, AST (GOT) 22 U / l, ALT (GPT) 17 U / l, GGT 73 U / l, CRP 12.1 mg / dl. Serologic studies showed HBsAg negative, anti-HBs positive, anti-HBc positive, HAV IgM negative, HIV negative, EBV-IgG positive, EBV-IgM negative, RPR negative. Mantoux test was positive 12 mm.

The patient was diagnosed with type II diabetes mellitus. Successive analytical tests showed a sustained microcytosis and a normal blood smear. Coombs test was negative. Serum iron was normal. The haemoglobin electrophoresis is shown in Figure 1. The percentage area under the haemoglobin A0 curve was 53.9%; the percentages of haemoglobin F, A2 and A1c were lower than 0.2%, but the percentage of haemoglobin S was 33.2%.

What is the patient's haematological diagnosis?

Sickle cell trait or heterozygous HbS.

Haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency are common in Africa. Sickle cell trait is the most frequent structural haemoglobinopathy in the world. It is estimated that more than 84 million people, mostly living in Africa, are affected. Thus, in equatorial Africa, about 20% of the population carries sickle cell trait.

People with sickle cell trait are usually asymptomatic. They may have a mild anaemia or microcytosis. They may also have isosthenuria or lack of urine concentration. Stressful situations, exhaustion, hypoxia (living at high altitude) or a severe infection may trigger some complications associated with sickle cell anaemia.

In contrast, patients suffering sickle cell anaemia (Hb SS) tend to have serious crises with abdominal pain, haemolytic anaemia and splenic infarction.

Patients with sickle cell trait have a partial protection against P. falciparum malaria. A reduced parasite density is observed, a lower proportion of severe malaria (cerebral malaria and severe anaemia), fewer deaths from malaria and increased survival rates for malaria occur in children with sickle cell trait. This resistance to malaria may be due to several pathophysiological phenomena: (1) parasitized red blood cells sickle and would be more rapidly eliminated by the spleen, (2) some degree of inhibition of intraerythrocytic growth of the parasite (schizogony) and (3) an increased cell-mediated immune response against P. falciparum (by altering the expression of parasite antigens).

96. Nodular skin lesions

Mon, 13 Dec 2010 16:40:26 +0100

A 34 year-old Bangladeshi man who was living in Spain presented with multiple 1 cm skin nodules (image) on his back and thorax. The nodules were painless and had slowly enlarged for the last three months. He had insulin-dependent diabetes mellitus and pulmonary stage I (image) and articular sarcoidosis treated with 15 mg prednisolone/day. The rest of the skin was unremarkable and examination of the peripheral nerves was normal.

What is your diagnosis and how would you confirm it?

A biopsy of a skin nodule was performed and showed an extensive epithelioid non- necrotizing sarcoid-type granulomatous reaction in the middle and deep dermis. No organisms were identified by Ziehl and silver stains.

Up to 20 % of patients with sarcoidosis have cutaneous manifestations, usually early in the disease. These include a maculopapular eruption in the nares, lips, eyelids and forehead; nodular lesions –as in our case- on the face, trunk and limbs; lupus pernio; erythema nodosum; and other more atypical ulcerative, psoriasiform, hypopigmented etc. lesions.

All skin lesions disappeared on increasing the dose of steroids.

95. fever after vaccination.

Mon, 29 Nov 2010 16:45:53 +0100

A 54 year-old man presented with fever after having received his flu vaccination.

He had high blood pressure, aortic stenosis and hypertrophic obstructive cardiomyopathy under cardiological follow-up and a recent acute coronary syndrome with angioplasty and stent implantation.

Twelve hours after the vaccination at his health centre, he developed fever, chills and general discomfort.

Physical examination showed an obese patient with an axillary temperature of 37.7ºC and an aortic systolic murmur. The rest of the examination was unremarkable.

The chest x-ray is shown in the image. Several blood cultures were taken. 48 hours later the microbiology service reported the isolation of gram-positive cocci in clusters in 6/6 samples.

What treatment would you recommend?

The organism was identified as cloxacillin/meticillin-sensitive Staphylococcus lugdunensis 24 hours later.

After intravenous antibiotic treatment was started the patient became afebrile and well. A trans-oesophageal echocardiogram showed no signs of endocarditis.

Staphylococcus lugdunensis is a coagulase-negative coccus that can produce disease in humans. It has been associated with a wide spectrum of infections, mainly minor skin and soft tissue infections but also endocarditis which can be aggressive.

Flu vaccination can produce fever but if persistent in a patient with heart disease and a recent percutaneous procedure other causes, including nosocomial bacteraemia and infective endocarditis, must be ruled out.

The term lugdunensis comes from Lugdunum, the Latin name of Lyon, the city where the organism was first isolated.

94. Skin lesions and pitting oedema

Mon, 15 Nov 2010 18:41:21 +0100

A 4 year-old girl from rural Ethiopia attended hospital with diarrhoea, loss of weight and appetite, non-productive cough, and the appearance of desquamative skin lesions in the last two weeks.

Physical examination showed a poor general condition. She was obtunded, with reduced skin turgor, pitting oedema in both legs, and hypo- and hyperpigmented skin lesions over the thighs and buttocks (see image). Her hair was thin and discoloured. Her weight was 7.10 kg, height 75 cm (weight/height < 70 %) and mid-upper arm circumference 115 mm.

What is your diagnosis?

This girl suffered severe malnutrition, kwashiorkor-type, due to protein deficiency. The condition is characterized by bilateral pitting oedema, hypo- and hyperpigmented skin lesions with ulceration, plaques and atrophy. The hair is dry, thin and discoloured. Hepatomegaly, lethargy and listlessness are also common. Children may die due to respiratory tract infections.

Treatment includes vitamin A supplementation, folic acid, antibiotics, anti-malarials according to local guidelines, measles vaccination if indicated, and a strict adherence to WHO recommendations for malnourished children.

93. acute dyspnoea

Mon, 1 Nov 2010 17:24:37 +0100

A 31 year-old Senegalese man, who had been resident in Europe for several years, returned from a fifteen day holiday in Dakar with holocranial headache, high fever (39° C), dizziness and vertigo. He was treated empirically with antimicrobials, amoxicillin/clavulanic and ciprofloxacin, for a suspected otitis.

Twenty four hours later he consulted again because of persistent fever and headache. Physical examination showed mild conjunctival jaundice.

Blood count showed normal leukocyte counts, platelets 45,000/mcL and haemoglobin 12 g/dL. Serum LDH was increased and total bilirubin was 3 mg/dL. A blood film showed the presence of P. falciparum with a parasitic index of 10 %. Treatment with quinine sulphate and doxycycline was started. After 4 days of therapy the parasitic index was 1 %. One day later the patient became breathless on minimal effort, having an arterial pO2 of 42 mmHg, pCO2 of 33 mmHg and pH of 7.38. The chest X-ray is shown in the image.

What is your diagnosis and what treatment would you recommend?

This patient had acute respiratory distress syndrome associated with P. falciparum infection.

ARDS is an uncommon but severe complication of malaria. It is estimated that 5% of non-severe P. falciparum malaria cases and 20-30 % of severe cases that require intensive care admission develop ARDS. The main risk factors for this complication are: P. falciparum infection (although it can occur with other species), high parasitaemia, hypoalbuminaemia and intravenous fluid overload. Lactic acidosis and hypoglycaemia are frequent.

Treatment is based on invasive or non-invasive ventilation, support measures and maintenance of intravenous or oral antimalarial treatment. Bacterial pulmonary superinfection is common and requires the administration of antimicrobials.

Mortality in areas without respiratory support can reach 80 %.

92. facial enlargement

Fri, 15 Oct 2010 15:58:52 +0200

A 5 year-old Ethiopian boy complained of malaise and facial enlargement.

On examination the masseter muscles appeared bilaterally enlarged (image 1).

Two younger brothers were also affected (image 2).

What is your diagnosis?

Mumps (epidemic parotitis) is a transmissible disease characteristically affecting one or both parotid glands. It is caused by the mumps virus, an RNA virus belonging to the Paramyxoviridae family. It typically affects children and teenagers. The disease produces lifelong immunity. It can be prevented with vaccination (measles, mumps and rubella, administered at 12-15 months of age in developed countries).

In 20-30 % of cases the infection is asymptomatic. Initial symptoms are headache, malaise, fever and jaw pain, preceding enlargement of one parotid gland then the other. The sublingual and submaxillary glands can also be affected, as can the pancreas, testes (orchitis is present in 20-40 % of postpuberal males) and ovaries. Occasionally lymphocytic meningitis occurs.

The incubation period is between 18 and 21 days.

In developing countries diagnosis is based on clinical grounds. Serological or PCR methods are also available. There is no specific treatment and the disease resolves spontaneously within two weeks.

In Spain as in other European countries and the USA, outbreaks have occurred in populations with high vaccination coverage (> 90 %); this has been attributed to an early loss of immunity with the Jeryl Lynn vaccine.

91. skull lesion

Mon, 11 Oct 2010 19:32:20 +0200

A 40 year-old Colombian man presented with a scalp lesion that had grown over several months and had not improved with various ointments.

He was taking female hormone therapy.

Physical examination was normal except for the feminine appearance and a hard 6 x 4 cm lesion on the skull (image).

What is your diagnosis?

A skin biopsy of the lesion was performed and showed characteristics of a large B-cell lymphoma.

Anti-HIV antibodies were positive, with a CD4 percentage of 13 % and a viral load of 1.4 millon HIV-1 RNA copies/mL.

The patient was treated with 8 cycles of chemotherapy (CHOP-rituximab) and a protease inhibitor-based HAART was started.

After completion of chemotherapy, the lesion appeared as shown in the image.

90. dyspnoea for several months

Mon, 20 Sep 2010 15:48:26 +0200

A 24 year-old Ethiopian woman presented with a 6 month history of cough, dyspnoea and malaise (image). The dyspnoea was paroxysmal and she had scant mucoid sputum. AAFB in sputum was negative. The chest X-ray showed cardiac enlargement (image). An ECG was performed (image).

What is your diagnosis?

The chest X-ray showed a tent-shaped cardiac enlargement suggestive of pericardial effusion. A trans-thoracic echocardiogram confirmed the presence of pericardial effusion containing floating structures compatible with fibrin.

Anti-tuberculosis treatment (isoniazid, rifampicin, pyrazinamide and ethambutol), prednisolone, acetylsalicylic acid and diuretics were started. Two days later the patient was feeling better. Two weeks later the chest X-ray had improved.

The diagnosis of tuberculous pericarditis was based on clinical findings and the good response to treatment.

The pericardium can be affected through spread from a contiguous hilar focus or through haematogenous spread in miliary disease. Tuberculous pericarditis is rare in developed countries but not infrequent in developing ones. Most cases of pericardial effusion in sub Saharan Africa are due to M. tuberculosis.

The onset can be acute over days or insidious as in this patient. Sometimes the condition progresses to a constrictive pericarditis. Diagnosis is established by means of microbiological analysis of the pericardial effusion, or by adenosine deaminase or gamma interferon determination. In sub-Saharan Africa up to 40 % of cases are associated with HIV infection.

Treatment is with anti-tuberculosis drugs and corticosteroids. (The use of steroids is controversial but in general is recommended). If cardiac tamponade occurs pericardiocentesis is required. Refractory cases may need surgical pericardiectomy.

You can get more information in the attached
Clinical characteristics and initial management.pdf.
Tuberculous pericarditis, Circulation. 2005;112:3608-3616.)

89. an hiv patient with microscopic haematuria

Mon, 6 Sep 2010 17:28:18 +0200

A 47 year-old Spanish man with long term HIV infection, well controlled with a protease inhibitor, tenofovir and FTC (emtricitabine) without complications, came for a routine check. He had been a heavy smoker in the past. He had never been to the tropics.

He was asymptomatic and the physical examination was unremarkable. Haematology and biochemistry tests were normal. The CD4 lymphocyte count was 35 % (870 cells/microL) and the HIV-1 viral load was undetectable. Microhaematuria with undeformed erythrocytes was detected, without any other abnormalities in the urine sediment.

A urinary ultrasound scan was performed and is shown in the image.

What is your diagnosis and what test would you advise to confirm it?

The patient had a transitional cell (urothelial) carcinoma of the bladder, confirmed by cytological examination of the urine.

Although HIV infected patients have a higher incidence of several cancers, there is no association with this particular neoplasm. In fact, only a small number of clinical reports have been published so far. Antiretroviral therapy is not associated with this disease either. Smoking is the main risk factor.

88. cutaneous lesions and seizures

Mon, 23 Aug 2010 19:08:45 +0200

An 18 year-old Ethiopian woman was referred having had several episodes of loss of consciousness with seizures. She had had similar episodes for 5 years.

Physical examination highlighted lesions on the face and forehead (images). Another lesion was present on the forearm (image).

What is your diagnosis?

Seizures and facial cutaneous lesions suggest the diagnosis of tuberous sclerosis. Her elder sister had similar facial lesions.

Tuberous sclerosis is an autosomal dominant hereditary disease with incomplete penetrance. It is one of the neurocutaneous syndromes. Mutations in two genes (TSC1 and TSC2) cause the disease. It occurs in different ethnic groups and has no gender predominance. It is estimated that 1 to 2 million people are affected.

It presents with angiofibromas, reddish rounded tumors often on the chin, cheeks and nose in a butterfly distribution (nasolabial folds) as in our case (image 1) and hypochromic lanceolate or ash leaf shaped macules (image 3).

Symptoms of tuberous sclerosis may present at birth or later.

Mental disorders, behavioural or psychotic disturbances, may be associated. The condition can also be complicated by giant cell intraventricular astrocytomas near the foramen of Monro, retinal and cardiac hamartomas, angiomyolipomas and pulmonary lymphangioleiomyomatosis.

Treatment is symptomatic. Phenobarbital is frequently used in Africa in the case of epilepsy.