Introduction: In approximately 96% of probands, the diagnosis of Treacher Collins Syndrome (TCS) is confirmed by molecular genetic tests. These tests can detect heterozygous mutation of TCOF1 gene (coding treacle protein) and variants of POLR1D gene (coding RNA polymerase I subunit D) with autosomal dominant inheritance, or biallelic variants of POLR1C gene (coding RNA polymerase I subunit C) and POLR1D with autosomal recessive inheritance. Case presentation: We present a neonate proband with family history of clinical features suggestive for TCS. Our patient was investigated for copy number changes (CNCs) of TCOF1 gene using SALSA MLPA P310-B3 TCOF1 probemix to perform Multiplex Ligation-dependent Probe Amplification (MLPA), the results being normal. Dysmorphic features revealed “bird-like” face with trigonocephaly, craniosynostosis, hypoplastic supraorbital rims, underdeveloped zygomas, mandibular hypoplasia and retrognathia (mandibulofacial dysostosis). Other clinical features, like abnormal position and structure of the external ears (microtia, with a bilateral low-set ears, crumpled and malformed pinnae and aural atresia), were also observed. Conclusion: Taking into account our results, and also data found in literature, we consider that all TCS cases, but in particular patients with specific TCS features and without CNCs, require additional investigations using sequencing techniques.
Introduction: Hypertension is one of the most important modifiable risk factor related to cognitive decline and dementia. However, screening for cognitive dysfunction is not part of the routine clinical assessment.
Case presentation: In this report, we present the case of a 75 year old hypertensive male patient with new-onset atrial fibrillation, admitted to the Cardiovascular Rehabilitation Clinic Târgu Mureș. Apart from the routine clinical assessment, the evaluation of cognitive functions was performed with three different screening instruments which identified cognitive dysfunction. Depressive state was assessed with the shortened 13 items form of the Beck Depression Inventory BDI-13 (BDI-13) and it showed moderate depression which could influence the results of cognitive tests. Detection of cognitive impairment was followed by magnetic resonance imaging, which revealed not only hypertension specific microvascular impairment but also a sequelae of a former stroke in the territory of the left middle cerebral artery and a possible meningioma.
Conclusion: Screening for cognitive dysfunction in high-risk hypertensive patients can be easily performed and in several cases like ours, can unmask silent cerebrovascular pathologies, leading to prognostic and therapeutic consequences.
Surgery associated with lymphadenectomy may sometimes result in a lymphorrhagia, which usually resolves spontaneously within a few days, sometimes becoming a refractory complication to the treatment. In the case of large flows, particular attention should be paid to hydroelectrolytic and protein losses. We present the case of a patient with persistent lymphorrhagia after a cephalic duodenopancreatectomy for a pancreatic head tumor. From the 5th postoperative day, the patient had a milky-like secretion on the subhepatic drainage tube. The discharge rate was variable, between 500 and 1500 ml per day, requiring parenteral administration of amino acids, plasma and electrolyte solutions. The postoperative progression was slowly favorable, with the patient discharge on the 25th day following surgery. There are several treatment options for a lymphorrhagia following an extended lymphadenectomy, from intensive parenteral therapy to peritoneal-venous shunt or ligation of the lymphatic vessel responsible for the production of lymphorrhagia. In this case the conservative treatment had a favorable result.
Introduction: Xanthogranulomas are rare, benign, usually asymptomatic, cutaneous tumors most frequently seen in children (juvenile xanthogranulomas). Some lesions can be found accidentally at randomly performed cerebral computer tomography (CT) or magnetic resonance imaging (MRI) or even on autopsy.
Case report: We present the case of a 44 year-old woman, known with a thrombophilic disorder (PAI-1 gene mutation, MTHFR C677T and A1298C) on chronic anticoagulant treatment. The onset of symptoms was in 2010, when she presented paresthesia and lower limbs weakness. Two years later the patient presents with severe intermittent headache and left hemicrania and a cerebral angio-MRI is performed showing a left postero-inferior cerebellar artery aneurysm and two choroid plexus intraventricular masses in the lateral ventricles. The patient developed a new symptom, dysarthria in 2014 and in 2015 has multiple episodes of loss of consciousness, interpreted as epileptic seizures. Routine blood tests were within normal range, except for a high cholesterol level. The patient was tested for autoimmune, infectious, endocrine and metabolic diseases that were negative. Surgical treatment and biopsy from the lesion was proposed, however the patient refused both procedures.
Conclusions: There is an association between xanthogranulomas localization and the choroid plexus, the most frequent CNS origin being in the trigon of the lateral ventricle. Our case does not resemble with any other case published, mostly because the unusual presentation, symptomatology and the association between xanthogranulomas, thrombophilia and postero-inferior cerebellar artery aneurysm which were never reported before in other cases of xanthogranulomas from the literature.
Introduction: Hyperechoic liver lesions identified by conventional ultrasonography are diverse in underlying pathology and most of the time require further investigations. Gastrointestinal stromal tumors (GIST) are rare neoplasms of the gastrointestinal tract which are uncommonly found in metastatic stages at first presentation.
Case report: We present the case of a 51 years old woman with nonspecific symptoms in which conventional ultrasonography showed hyperechoic lesions in the right lobe of the liver with a diameter up to 40 mm. Esophagogastroduodenoscopy revealed a submucosal tumor on the small curvature of the stomach, on the anterior wall, with central ulceration, with normal narrow band imaging (NBI) mucosal pattern and negative gastric biopsy. Contrast enhanced ultrasonography was performed, describing multiple lesions with inhomogeneous enhancement in the arterial phase and rapid washout at the end of arterial phase. Endoscopic ultrasound with fine needle aspiration (EUS-FNA) biopsy examination was definitive for the final diagnosis of epithelioid gastric gastrointestinal stromal tumor. The patient was diagnosed with T2N0M1 epithelioid gastric GIST, stage IV, and is currently under treatment with tyrosine kinase inhibitors.
Conclusions: GIST represent a diagnostic challenge in medical practice because of its size, unusual location in the submucosal layer and lack of symptoms. The role of EUS-FNA is of paramount importance in increasing the accuracy of diagnosis in the case of GIST. The particularity in our case consists of the unusual presentation with the lack of specific symptoms and signs associated with the presence of metastatic lesions at the moment of the diagnosis of GIST.
Introduction. The encapsulated, non-invasive subtype of follicular variant of papillary thyroid carcinoma (FVPTC) represents approximately 10% to 20% of all thyroid cancers. Many studies over the past decade have shown that these tumors carry an indolent clinical course, with no recurrence, even in patients treated by lobectomy. Their reclassification as neoplasms with “very low malignant potential” has recently been suggested by an international group of experts and a new terminology was proposed: “non-invasive follicular thyroid neoplasm with papillary-like nuclear features” (NIFTP). However, a diagnosis of NIFTP is still challenging for many pathologists in daily practice.
Presentation of case series. By presenting six illustrative cases of NIFTP, this article aims to highlight the diagnostic criteria and the burden difficulties when dealing with NIFTP cases. Characteristic histological features, inclusion and exclusion criteria for NIFTP, as well as sampling guidelines and differential diagnosis challenges are all discussed.
Conclusions. The diagnosis of NIFTP is not straightforward and requires meeting strict inclusion and exclusion criteria. Total sampling of the tumor capsule in these cases is mandatory in order to exclude invasion (capsular and/or vascular). A diagnosis of NIFTP promotes a less-aggressive patient management that is, no need for completion thyroidectomy or radioactive iodine therapy.
Introduction: Glomus tumors are rare benign mesenchymal neoplasms accounting for only 2% of all types of soft tissue tumors. Commonly located in the peripheral soft tissues, they are most frequently encountered in the subungual areas of fingers and toes, and very rarely in visceral organs due to the absence of glomus bodies. To date, 22 cases of primary renal glomus tumors have been described in the literature, of which 17 benign, with no evidence of recurrence or metastasis, three cases of malignant glomus tumor, and two cases with uncertain malignant potential.
Case report: We report the 18th case of a benign glomus tumor of the kidney in a 49-year-old female patient, presenting the microscopic appearance (round, uniform cells with indistinct borders, scant finely granular eosinophilic cytoplasm, round nuclei lacking prominent nucleoli, arranged in solid sheets, accompanied by slit-like vascular spaces), the immunohistochemical profile (tumor cells showed immunoreactivity for smooth muscle actin, vimentin, as well as for CD34; they were negative for AE1/AE3, desmin, HMB-45, S-100 protein, renin, and chromogranin), and the differential diagnosis of this rare entity (juxtaglomerular tumor, angiomyolipoma, hemangioma, epithelioid leyomioma, solitary fibrous tumor, carcinoid tumor, and paraganglioma).
Conclusion: Primary renal glomus tumors are rare tumors that radiologically can mimic other mesenchymal renal neoplasm. Accurate diagnosis is based on the microscopic appearance and especially the characteristic immunophenotype.
Tay-Sachs disease (TSD) is a rare, inherited, autosomal rececessive lysosomal storage disease. The late-onset form is an uncommon condition among non-Jewish population.
We present the case of a 32 years old male patient without Jewish origins, in whom the disease began in adolescence and was initially diagnosed with spinal muscular atrophy. He developed progressively protean neurological symptomatology, including tetraparesis, cerebellar and extrapyramidal syndromes. The diagnosis was based on the cerebral MRI, showing severe cerebellar atrophy and the determination of the Hexosaminidase A activity, revealing low level.
In patients showing signs of lower motor neuron involvement, cerebellar and pyramidal signs and marked cerebellar atrophy the late-onset TSD should be suspected, and the first step in establishing the diagnosis should be to determine the serum activity of Hexosaminidase A.
Introduction: Colorectal cancer is one of the most common types of malignant tumors worldwide. In patients with situs abnormalities such as situs inversus totalis or situs ambiguus, the presence of this tumor could be a challenge for the surgeon, especially in cases in which the laparoscopic approach is considered.
Case presentation: We report the case of a 69-year-old male patient with situs inversus totalis. This particular case of situs inversus totalis was not a classical type because the patient had bilateral bilobed lungs, polysplenia, preduodenal portal vein in association with midgut malrotation. The pathology report after surgery revealed moderately differentiated adenocarcinoma of the sigmoid colon, stage pT3 N1c M1a, liver metastases but without metastases in the eight resected lymph nodes. We compared this rare association of diseases of particular anatomic aspects with other reports in the specialty literature.
Conclusion: The identification of situs abnormalities or other malformations in patients with resectable colorectal cancer is essential, thus preoperative imaging studies are imperative for a proper surgical management. Colorectal cancer metastasizing patterns in patients with intestinal malrotation need to be further investigated.
Introduction: Extrahepatic portal vein thrombosis (EPVT) is the most frequent cause that leads to portal hypertension in non-cirrhotic patients. This condition is related to systemic and local risk factors (such as inflammatory lesions, injuries to portal venous system by surgery, vascular procedures).
Case presentation: A case of extended extrahepatic portal vein thrombosis and simultaneous thrombosis of left common iliac vein and inferior vena cava, appeared after abdominal surgery in a hypertensive, diabetic, 50 y.o. man is presented. An acute episode of abdominal pain was interpreted as an emergency and a surgical (initially laparoscopic and then open) procedure was planned in order to perform an appendectomy. Discharge diagnosis was hemoperitoneum secondary to iatrogenic rupture of sigmoid mesocolon provoked by trocar manipulation. Repeated imaging studies performed later revealed the thrombosis of portal vein with extension into right portal branch associated with superior mesenteric thrombosis and free-floating thrombus into left common iliac vein extended towards inferior vena cava. Surgical manoeuvres are considered as triggers of these thrombotic events. After 4 weeks of parenteral anticoagulation a partial recanalization of thrombi was identified, without bleedings.
Conclusions: Acute EPVT needs a carefully management. Case is linked to abdominal surgery and requires prolonged anticoagulation related to simultaneous portal and iliac vein thrombosis. Associated conditions (hypertension and diabetes mellitus) must have an appropriate approach. After our knowledge this is the first case published in literature.