Lupus vulgaris mimicking cutaneous leishmaniasis: A case report

Lupus vulgaris (LV) is a progressive, chronic form of cutaneous tuberculosis (CTB). The head and neck regions are the most commonly affected sites, followed by the arms and legs. Occurring in unusual sites may pose diagnostic difficulties. Herein, we report a case of LV present on the dorsal aspect of the right hand in a twenty-year-old Saudi male. It was misdiagnosed as leishmaniasis as the patient lived in an area in which it was endemic, and was treated accordingly with no benefit. A skin punch biopsy was taken and the diagnosis of LV was confirmed. The lesion responded well to anti-tubercular therapy (ATT), yet healed with atrophic scarring. Although rare, clinicians must be aware of the importance of considering CTB as an important differential, as misdiagnosis or delayed diagnosis of this entity may eventually cause prolonged morbidity.

SAPHO syndrome associated with a digestive disorder in a ten-year-old girl: Diagnostic difficulties

SAPHO syndrome (acronym for synovitis, acne, pustulosis, hyperostosis, osteitis) is a rare dermato-rheumatic entity usually observed in young adults. The clinical manifestations are proteinaceous and without specificity at the origin of inflammatory diseases of the intestine. Our clinical case is that of a ten-year-old girl who presented with chronic and recurrent osteomyelitis of the pelvic limbs on a febrile background, followed by persistent and recurrent pustular lesions. During the same period, because of an acute abdominal pain syndrome accompanied by fever, a biological inflammatory syndrome, and predominantly neutrophilic hyperleukocytosis, laparotomy was performed and no lesions were found. She subsequently presented with intermittent and recurrent spasmodic abdominal pain. In view of these various symptoms, a multidisciplinary consultation concluded that the patient had SAPHO syndrome associated with a digestive disorder, possibly Crohn’s disease. Our clinical case illustrates the diagnostic difficulties of SAPHO syndrome.

The role of diagnostic laparoscopy in the treatment of patients with ovarian tumors

The aim of the investigation was to study the role of diagnostic laparoscopy in treatment of patients with ovarian cancer. The analysis of 480 laparoscopic operations, which was carried out on 42 patients with benign tumors, 29 cases of suspected tumor malignization, 67 patients with non gynecological pathology with suspected ovarian neoplasia and 174 women with established ovarian cancer, made it possible to define indications to laparoscopic operations. Using this method the authors managed to solve differential-diagnostic difficulties in 81,7% cases. The results of the investigation revealed the advantages of the method as to patients with benign tumors. This method is recommended for ovarian tumor and early recurrence diagnostics and also for morphological verification of tumor development. But the role of laparoscopy in treatment of malignant ovarian cancer, especially its early forms, still has to be further investigated.

Treatment of narcolepsy: A rare disease of unknown etiology

Background: Narcolepsy, also known as Gélineau syndrome, is a chronic and neurological disease that affects 0.05% of the European population, though that percentage could be higher due to the diagnostic difficulties. The main symptom is excessive daytime sleepiness, although it may be accompanied by cataplexy, sleep paralysis and hypnagogic hallucinations. Objective: Nowadays, there is no cure for narcolepsy and the treatment is symptomatic: psychostimulants for the sleepiness by means of amphetamines, methylphenidate or modafinil, and antidepressants and sodium oxybate for treating cataplexy. Method: This is a short review regarding pharmacotherapy for narcolepsy. Result: Hypocretins were discovered in 1998. They are neuropeptides whose deficit is responsible for this symptomatology, has opened up a new field of investigation. Conclusion: Agonists of hypocretins could be a promising therapy against this disease.

Primary progressive aphasias: clinical and genetic heterogeneity and diagnostic difficulties

This systematic review describes primary progressive aphasia (PPA) variants and includes the authors' own clinical observations. Over 20 genes have now been identified, with mutations that are directly involved in the development of the behavioural variant of frontotemporal dementia, as well as other forms of PPA. Pathomorphological markers of Alzheimer's disease were identified in 76% of cases of logopenic PPA, while signs of frontotemporal dementia associated with TDP-43 were identified in 80% of cases of the semantic variant, and those associated with TDP-43/tau were identified in 64% of cases of agrammatic PPA. The clinical diagnosis of PPA is based on a history of long-term, progressive speech disturbances and identifying a particular variant: agrammatic, semantic or logopenic. The primary variant of the speech disorder cannot be identified in approximately 30% of cases. The focus should be on the main and additional clinical signs (presence of agrammatism, object naming, word comprehension, preserved repetition), as well as neuroimaging (presence of asymmetrical frontal and/or temporal lobe atrophy). The article also provides key aspects of differential diagnosis of the PPA variants, and puts forth a stepwise diagnostic algorithm. It examines features of PPA progression, with possible development of corticobasal syndrome, illustrated by a clinical case. A dissociation between neuroimaging findings and clinical disease variant is also demonstrated to be possible. Different neuropsychological assessments of patients with aphasia and methods of determining the severity of speech dysfunction are presented. Standardized aphasia assessment tools and the adapted PPA severity scale are provided.

Tuberculosis in the Elderly

The tuberculosis (TB) epidemic is most prevalent in the elderly, and there is a progressive increase in the notification rate with age. Most cases of TB in the elderly are linked to the reactivation of lesions that have remained dormant. The awakening of these lesions is attributable to changes in the immune system related to senescence. The mortality rate from tuberculosis remains higher in elderly patients. Symptoms of active TB are nonspecific and less pronounced in the elderly. Diagnostic difficulties in the elderly are common in many diseases but it is important to use all possible techniques to make a microbiological diagnosis. Recognising frailty to prevent loss of independence is a major challenge in dealing with the therapeutic aspects of elderly patients. Several studies report contrasting data about poorer tolerance of TB drugs in this population. Adherence to antituberculosis treatment is a fundamental issue for the outcome of treatment. Decreased completeness of treatment was shown in older people as well as a higher risk of treatment failure.

Extrapulmonary Tuberculosis Mimics Diffuse Metastatic Disease: A Case Report

Background Extrapulmonary tuberculosis (TB) is associated with major diagnostic difficulties as it has many atypical symptoms and its imaging findings are similar to those of many other diseases. Case Report We present the case of a 50-year-old woman with a complex cystic mass in her pelvis and a 2-month history of pain. Thoracoabdominal computed tomography (CT) revealed the following: (1) multiple supraclavicular, axillary, mediastinal, and abdominal pathologic lymph nodes with central hypoattenuation; (2) sternal and dorsal vertebral bone destruction with a soft tissue mass; and (3) multiple hypoattenuating masses in the liver. 18F-fludeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) revealed pathologic uptake in the defined areas, which were similar to metastases. Chest X-ray was normal. Diffuse metastatic disease was suspected clinically, but careful analysis of the imaging findings and the final pathologic results revealed multisystemic extrapulmonary TB. Clinical and radiological recovery was significant after anti-TB treatment at the 6-month follow-up. Conclusion Extrapulmonary TB without pulmonary involvement is associated with major diagnostic difficulties, especially with PET-CT. However, recognition and understanding of the CT or MR imaging spectrum can aid in the correct diagnosis and management of the disease.

Diagnostic Difficulties in a Case of Fetal Ventricular Tachycardia Associated with Neonatal COVID Infection: Case Report

The clinical course of COVID in the pediatric population is considered to be much milder when compared to adults; however, the occurrence of severe and fatal forms of the disease in children is non-negligible, especially in patients with comorbidities such as prematurity or cardiac disease. We report a case of a newborn with sotalol-controlled fetal ventricular tachycardia, who was postnatally diagnosed with COVID infection. The myocardial injury was sustained on the basis of pericardial effusion, left ventricular dysfunction, rapid progression to coronary artery dilation, and an arrhythmic storm. We believe that, in our case, there is a significant overlap between fetal ventricular tachycardia, associated with impaired left ventricular function, and COVID infection, diagnosed after birth; both factors contribute to the myocardial dysfunction with a fulminant clinical evolution. To our knowledge, this is the first case describing neonatal myocardial dysfunction associated with SARS-CoV infection complicating the clinical course of rare fetal tachyarrhythmia.

Sonographic approach to the tumours of retroperitoneal space

Background: Timely diagnosis of primary retroperitoneal tumours is one of the current challenges of clinical oncology. This is due to the rarity, polymorphism and diagnostic difficulties of primitive retroperitoneal tumours. Material and methods: The study is cross-sectional, prospective and retrospective. The study group is represented by 118 patients with abdominal and retroperitoneal space tumours. Using the receiver operating characteristic (ROC) analysis curve and calculating the average quality of the diagnostic model, the informativeness of ultrasonography in the diagnosis of primary retroperitoneal tumours (PRT) was appreciated. Results: For tumour localization, the ultrasonography (USG) as a diagnostic model demonstrated an appropriate use criteria (AUC) of 0.641 (95% CI 0.541, 0.740, p <0.001), and the mean quality of the diagnostic model was 0.54. Following the statistical analysis, was found a partial correlation between the size of the tumour and the dimensions estimated at USG of 0.540 (95% CI 0.295, 0.737, p <0.001), which represents a high positive correlation. To determine the uni- or multicentric character of the tumour, the USG demonstrated an integrative value of sensitivity and specificity of 0.644 (95% CI 0.415, 0.873, p <0.001. In assessing the proximity ratio of retroperitoneal tumours, the highest AUC was recorded in the assessment of the ratio of tumour to pancreas – 0.838 (95% CI 0.705.0.971, p <0.001) and kidney – 0.861 (95% CI 0.699, 1.024, p <0.001). Conclusions: Ultrasonography is a fairly informative imaging diagnostic method in the diagnosis of retroperitoneal tumours. The characteristics of the tumours obtained after the ultrasound examination provide indirect information about the malignant or benign nature of the primitive tumour, which allows the assessment of the next stages of diagnosis and treatment.