Congenital nephrogenic diabetes insipidus: a difficult diagnosis?

In five patients (a boy aged 10 years, a boy aged 3 months, his brother aged 1 week, the brother of the mother of the last-mentioned two boys who had died at the age of one, and a girl of kindergarten age) congenital nephrogenic diabetes insipidus was diagnosed. This rare syndrome (prevalence 1:500,000) is caused by renal insensitivity to the antidiuretic hormone arginine vasopressin. In infancy the symptoms of this disorder are aspecific, and the main symptoms of the disease, polyuria and polydipsia, often remain unnoticed at this young age. A simple anamnesis and a few laboratory tests should suggest the diagnosis. Early diagnosis and genetic counselling are possible as the molecular effects involved have been elucidated.     

Abdominal tuberculosis: a presumptive diagnosis

BACKGROUND: Abdominal tuberculosis (TB) is common. But the diagnosis of abdominal TB is fraught with difficulties as it is often not possible to get a microbiological confirmation of the infection. We therefore undertook this study to highlight those pertinent clinical and laboratory features which would enable one to make a provisional diagnosis of abdominal TB early, to pave way for a trial of anti-tuberculosis chemotherapy. METHOD: This is a retrospective study of 12 patients treated for abdominal TB in our department over a period of 2 years. FINDINGS: Seven of the patients suffered from chronic diarrhoea for periods ranging from 4 weeks to 12 months. Four patients had progressive abdominal distension (ascites). The last patient came in with multiple abdominal swellings. Seven patients had clinical and biochemical features of malabsorption. Another 9 patients also had persistent pyrexia. The ascitic fluid was exudative in the 4 patients mentioned earlier. A definitive diagnosis could not be established in any of these patients. The diagnosis of abdominal TB was thus one of exclusion in these patients who showed prompt response to anti-tuberculosis therapy. CONCLUSION: Our study justifies a trial of anti-TB chemotherapy in TB endemic areas in the following clinical situations: (a) patients with chronic diarrhoea of unknown aetiology and (b) patients with exudative ascitic fluid, after all other possible causes, have been excluded. A prompt response to anti-TB therapy should be accepted as sufficient ground for the diagnosis of abdominal TB even when histopathological or microbiological confirmation of the disease is not possible. Our study reflects the experience of other workers from Third World countries.     

Perforated diverticulum of the cecum: a difficult preoperative diagnosis

A patient was admitted for a suspected appendicitis; occasionally, a roentgenogram of abdomen, an echography and a tomography: confirmed the suspect. At laparotomy a perforated diverticulum of cecum is suddenly reported: a segmentary resection of ascending colon is performed. Authors remark, according to literature, that preoperative diagnosis of perforated cecal diverticulum is difficult even today, in spite of diagnostic procedures.     

Duodenal tuberculosis presenting as acute ulcer perforation

Gastrointestinal tuberculosis (TB) is rare, but its incidence is increasing in industrialized countries because of the growing numbers of individuals at risk for TB. Herein, we report the exceptional case of a young, HIV-negative, African refugee who presented with acute perforation of an isolated duodenal tuberculous ulcer. Clinical patterns of duodenal TB are discussed. The difficulty of obtaining a diagnosis on the basis of clinical features, endoscopy, and imaging is emphasized, as well as the importance of obtaining a biopsy specimen and its limitations.     

Diabetic muscle infarction: a difficult diagnosis suggested by magnetic resonance imaging

Malignant pericardial effusion is an uncommon disorder and is usually caused by far advanced lung cancer, breast cancer, lymphoma and leukaemia. Pericardial effusion in recurrent gastric cancer has been reported in only three patients. We report the case of a 53-year-old male with sudden onset of dyspnoea, pericardial effusion and cardiac tamponade and the unexpected and the asymptomatic concurrence of gastric cancer. Recurrent haemorrhagic pericardial effusion with physical signs of cardiac tamponade as the initial and only clinical manifestation of gastric cancer has not been described previously.     

Pancreatic cystic lesions of difficult diagnosis

Cystic lesions of the pancreas include pseudocysts (90%), cystic tumors and true cysts. Preoperative diagnosis will guide the therapeutic strategy. Certain malignant or potentially malignant cysts (mucinous cystadenomas and cystadenocarcinomas) should be removed surgically while others (pseudocysts and serous cystadenomas) are almost always benign. In 3 out of 4 cases, the clinical setting guides diagnosis and with adequate imaging (sonography, computed tomography, endosonography) the correct diagnosis can be obtained. Inversely, the nature of a unique macrocyst it is often difficult to identify. Puncture is useful to determine tumor markers which are sometimes helpful in complementing information provided by imaging techniques.     

Brain abscess. A difficult diagnosis?

It is vital to diagnose brain abscess early, but this can be intricate. Four cases of brain abscess are described, illustrating the diagnostic difficulties. One of the patients had multiple brain abscesses. Important aspects of brain abscess are discussed. Brain abscess should be suspected in cases of increasing intracranial pressure combined with focal neurological signs or epileptic seizures, even with no apparent signs of infection. The characteristic contrast-enhancing ring lesion and surrounding oedema may be sufficient for diagnosis, but biopsy and bacteriological culture are often necessary. Epileptic seizures and various neurological sequelae are common, even if the abscess is treated immediately. Delay in diagnosis may lead to fatal outcome.     

Microbiological diagnosis of tuberculosis

The increased incidence of tuberculosis as well as the availability of new diagnostic testing methods clearly have various implications for the routine microbiology laboratory: samples must be sent to the microbiology lab for testing immediately after being taken and microscopically investigated the same day. In other countries, difficult to treat, multi-resistant Mycobacterium tuberculosis strains have occurred. Thus decisive hygienic measures must be taken early on in cases of highly infectious patients (i.e. patients with microscopically positive sputum). Liquid media (MB Check Roche, Bactec) as well as L?wenstein Jensen media must be inoculated in the lab. Liquid media allow both faster detection of certain atypical mycobacteria and increased accuracy. Classification of culturally established agents through commercial genetic probes (AccuProbe Mycobacterien) or with high pressure liquid chromatography is possible within hours when acid-fast rods are present. Time consuming identification by determination of biochemical and culture morphological characteristics should be reserved for reference labs. Today, rapid tests like analysis of tuberculostearic acid or polymerase chain reaction are already useful for special questions like ruling out tuberculous meningitis. In most cases, however, these rapid tests cannot replace identification of microbes with culture techniques.     

Bacteriological diagnosis of tuberculosis

Microscopic examination and culture are still today essential elements of the bacteriological diagnosis of tuberculosis. Microscopic examination of a Ziehl fuchsin or auramine stained specimen allows detection of most strains in less than an hour. Culture on L?wenstein-Jensen medium is more sensitive than the microscopic examination and is required for identification and to measure sensitivity to antibiotics. Mycobacterium colonies, generally the causal agent in tuberculosis, usually grow within 28 days and are easily recognized by their "cauliflower" aspect. The niacin test is used for formal identification. Currently, radiometric respirometry allows detection of M. tuberculosis growth and provides antibiotic sensitivity results more rapidly, usually within 10 days. Use of this technique is however limited because the culture medium contains radioactive carbon. Genetic probes are on the other hand quite easy to use and allow identification of cultured bacteria in only a few hours. After polymerization chain reaction gene amplification, M. tuberculosis strains can be detected directly in the specimen within 2 or 3 hours, but in practice, this method has not become a routine laboratory technique, particularly due to lack of sufficient specificity and sensitivity. No other serologic tests are currently reliable enough for the diagnosis of tuberculosis. For cases with low-count specimens, there still is no reliable "on-the-spot" diagnostic test.     

Freedom of treatment: a difficult exercise

This article reports a rare case of necrotising fasciitis starting out as a vulval abscess with rapid progression to a potentially lethal condition. Elderly people with medical conditions such as diabetes are especially prone to it. A high index of suspicion and an early surgical consult are essential in improving outcome in this condition. Once diagnosed, aggressive surgical debridement with antibiotic cover is crucial. This is followed up with meticulous nursing care of the large wound till it heals. The various diagnostic points and treatment modalities are also discussed.     

Krukenberg tumor during pregnancy with maternal and fetal virilization: a difficult diagnosis. A case report

We present a case of maternal and fetal virilization caused by an androgen-secreting ovarian tumor. Biopsy at caesarean section was required to determine the etiology (Krukenberg tumor) and orient diagnosis to a primary cancer (gastric adenocarcinoma).     

A case of difficult diagnosis of primary tubal carcinoma

Primary Fallopian tube cancer is a very un common cancer that appears between 40 and 65 years old, highly aggressive associate to a poor survival. In this work the authors explain a clinic case of primary Fallopian tube cancer in a woman of 57 years old operated for endometrial cancer. The authors display that the definitive diagnosis was possible only after the histological examination of the operating piece.