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INTRODUCTION AND IMPORTANCE: Cystic adventitial disease (CAD) is a rare vascular disorder marked by occlusion stemming from the development of a cystic mass within the outer (subadventitial) layer, with a predominant impact on the popliteal artery. The significance of the case presented herein lies in shedding light on a distinct clinical manifestation involving a 40-year-old man who exhibited sporadic calf claudication during ambulation. This instance contributes to the broader understanding of CAD and its diverse clinical presentations, emphasizing the need for further exploration and awareness within the medical community. CASE PRESENTATION: A 40-year-old man, with no significant past medical history, was referred to the cardiovascular department for the evaluation of a new onset of left calf pain persisting over the past three months. An arterial lower limb Doppler ultrasound was performed, revealing a focal hypoechoic image around the popliteal artery with a regular arterial wall, indicative of extrinsic compression. This resulted in significant stenosis of the popliteal artery during plantar flexion of the foot. The diagnosis of CAD of the left popliteal artery was established after limb computed tomography angiography, and a complete resection of the cyst was scheduled. The postoperative course was uneventful, with the patient experiencing relief from left calf claudication. CLINICAL DISCUSSION: CAD is an uncommon vascular anomaly, representing merely 0.1 % of all vascular conditions. This condition predominantly afflicts men aged between 40 and 50 years old. The etiology of CAD remains a subject of debate, with pathological findings typically involving intramural cysts containing gelatinous material between the media and the adventitia. Surgical intervention becomes necessary when symptoms arise. CONCLUSION: CAD of the popliteal artery, though rare, is a significant contributor to peripheral vascular insufficiency in young patients without typical atherosclerotic risk factors.
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INTRODUCTION AND IMPORTANCE: Granular cell tumor (GCT) originating from the sellar and suprasellar regions, specifically from the neurohypophysis, is a rare neoplasm. Distinguishing GCT from other pituitary tumors, including pituitary adenoma, pituicytoma, and spindle cell oncocytoma, poses significant challenges. Here, we present a rare case of GCT originating from the posterior pituitary in the supra-sellar region. CASE PRESENTATION: A 41-year-old woman, with no past medical history, presented to neurology department with decreased visual acuity and peripheral facial paralysis since 3 months. The MRI showed a well-defined supra-sellar, retrochiasmatic, oblong, hypothalamic expansive process. It was isointense T1-weighted, discretely hypotensive T2-weighted, measuring 19x17x16 mm, suggesting pituicytoma or craniopharyngioma. An endoscopic transsphenoidal surgical resection was performed. Microscopic examination showed a proliferation of diffuse architecture made up of rounded polyhedral cells with granular eosinophilic cytoplasm. On immunohistochemistry, tumor cells expressed diffusely TTF1, S-100 protein and SOX-10 confirming the diagnosis of supra-sellar GCT. DISCUSSION AND CONCLUSION: GCTs are rare neoplasms that predominantly exhibit benign behavior, while the malignancy rate remains at 2 %. Histopathology serves as the definitive diagnostic approach for GCTs. These tumors are resistant to radiotherapy and chemotherapy, necessitating surgical resection as the primary treatment modality. Due to the potential absence of distinct tumor masses and local tissue infiltration by tumor cells, complete excision is crucial, with resection extent extending beyond areas of infiltration.
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INTRODUCTION AND IMPORTANCE: Calcifying pseudoneoplasms of the neuraxis (CAPNON) are infrequent benign brain tumors. They demonstrate slow growth and are characterized by calcium deposits within the tumor tissue. CAPNONs are observed in the supratentorial compartment of the brain. Due to their rarity, increasing knowledge of CAPNONs is essential for accurate diagnosis and effective management of affected patients. This report describes a case of CAPNON diagnosed in a 56-year-old female and discusses the clinical, imaging, and histopathological findings of this rare entity. CASE PRESENTATION: A 56-year-old female presented with a history of recurrent holocranial headache and dizziness, progressively worsening over the last month. Physical and neurological examinations revealed no evident abnormalities. Brain magnetic resonance imaging revealed a calcified and cystic mass, measuring 40 × 32 mm in the right frontal lobe. Complete excision of the mass was done. Histologically, the lesion was composed of glial tissue with abundant amorphous lamellar calcification and a myxoid matrix in the background. Concentric circular calcifications were observed with osseous metaplasia present in some areas. Palisading spindle to epithelioid cells was noted around the lesion. The final diagnosis was CAPNON. The postoperative course was uneventful, and one year of follow-up revealed no signs of recurrence. DISCUSSION: CAPNON typically occurs in middle-aged adults and can present with variable symptoms depending on its location within the brain, including seizures, headaches, or neurological deficits. Surgical resection is considered the optimal treatment for CAPNON. Raising awareness and understanding of this rare entity is necessary for accurate diagnosis and management of patients affected by this condition.
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A 31-year-old man, with no past medical history, presented with headaches, sudden loss of vision, right exophtalmia, bilateral papilledema, and fever. Brain imaging noted a right basi-temporal lesion. Excision of the lesion was performed. The histological examination noted a glial tissue with acute inflammatory changes and multinucleated giant cells. Within this infiltrate there were septate and branched hyphae consistent with aspergillosis. These filaments were stained with PAS. The patient died post-operatively.
Subject(s)
Aspergillosis , Papilledema , Male , Humans , Adult , Aspergillosis/complications , Aspergillosis/diagnosis , Aspergillosis/pathology , Brain/diagnostic imaging , Brain/pathology , Headache/etiologyABSTRACT
Neuroblastoma is the most common extracranial solid tumor in children, often manifests in the retroperitoneal region. We present a case of a 3-year-old boy with no previous medical history, presented for abdominal distension. Physical examination revealed a distinct, mobile, solid mass situated in the left lumbar region. Abdominal magnetic resonance imaging displayed a well delimited, well-encapsulated mass attached to the tail of the pancreas. Urinary catecholamine metabolite levels were negative. Surgical exploration revealed that the tumor was primitively related to the left adrenal gland, and a complete resection was performed. The postoperative recovery was uncomplicated. NMYC oncogene was non-amplified.
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INTRODUCTION: Several ultrasound scoring systems have been developed to stratify the risk of malignancy of thyroid nodules, including ACR (American College of Radiology) and EU (European) TI-RADS. This study aimed to assess the diagnostic performance of these two classifications using histology as a reference standard. METHODS: It was a single-centre, retrospective study including 156 patients who underwent thyroidectomy. Ultrasound data of 198 nodules (99 malignant nodules and 99 benign nodules) were analysed. Both classifications were applied for all nodules. RESULTS: Ultrasound criteria associated with malignancy were solid composition (OR=7.81; p < 10-3 ), hypoechoic character (OR=16.42; p < 10-3 ), irregular contours (OR=7.47; p < 10-3 ), taller-than-wide shape (OR=3.58; p = 0.02), microcalcifications (OR=3.02; p = .006) and the presence of cervical adenopathy (OR=3.89; p = .006). The prevalence of malignancy was 15.5%, 69% and 76.9% for EU TI-RADS categories 3, 4 and 5, respectively. It was 33.3%, 57% and 91.1% for ACR TI-RADS categories 3, 4 and 5, respectively. For category 5, EU TI-RADS and ACR TI-RADS had sensitivities of 60% and 41%, specificities of 82% and 96%, respectively. For categories 4 and 5 combined, the diagnostic performance of these two classification systems became comparable with a sensitivity of 89% and 86% for EU-TIRADS and ACR-TIRADS, respectively. The area under the ROC curve was 0.81 for the EU TI-RADS classification and 0.82 for the ACR TI-RADS classification. CONCLUSIONS: EU TI-RADS and ACR TI-RADS scoring systems seem to be comparable in predicting malignancy in thyroid nodules.
Subject(s)
Thyroid Neoplasms , Thyroid Nodule , Humans , Thyroid Nodule/diagnostic imaging , Thyroid Nodule/surgery , Retrospective Studies , Thyroid Neoplasms/diagnostic imaging , Thyroid Neoplasms/surgery , UltrasonographyABSTRACT
Morphea is an auto-immune disease, and its association with other immune-mediated diseases should not come as a surprise. Dermatologists should be aware of its possible coexistence with severe systemic involvement.
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INTRODUCTION: Pleuropulmonary blastoma (PPB) is rare, representing 0.3 % of all pediatric cancers. PPB is classified into three subtypes and may progress from type I to types II and III, with a worse prognosis. Given its rarity, the diagnosis is frequently challenging. CASE PRESENTATION: We report an occurrence of PPB in a 3-year-old girl, who presented recurrent pneumopathy. Imaging investigations revealed a large solid lesion in the left hemithorax. Biopsy followed by histological analysis suggested rhabdomyosarcoma. The patient received neoadjuvant chemotherapy before proceeding to complete tumor excision. Surgical exploration revealed that the tumor was primitively related to parietal pleura and lower lobe of left lung. Histopathology of the tumor retained a definitive diagnosis of PPB type II. Postoperative course was uneventful, and a cerebral MRI ruled out brain metastasis. Adjuvant chemotherapy was administered. DISCUSSION: Clinical expression of PPB is nonspecific and variable. It ranges from a dry cough to respiratory distress. Standard radiography is the first examination to perform and CT is the gold standard for characterization thoracic masses. Surgery and chemotherapy are the pillars of treatment. Indications depend on the tumor type, its extent and its resectability. CONCLUSION: PPB is an aggressive tumor that occurs only in children. Due to the rarity of PPB, evidence on optimal treatment is still insufficient. Careful follow-up is necessary searching for local recurrence or metastasis.
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Necrolytic migratory erythema (NME) is a rare cutaneous paraneoplastic manifestation of glucagonoma. We report a case of a woman with a 6-year history of delayed diagnosis of glucagonoma. This case highlights the atypical clinical features of NME which makes the diagnosis difficult.
Subject(s)
Ectodermal Dysplasia/diagnosis , Alopecia/complications , Alopecia/diagnostic imaging , Child , Ectodermal Dysplasia/diagnostic imaging , Female , Genetic Diseases, X-Linked/complications , Genetic Diseases, X-Linked/diagnostic imaging , Humans , Scalp/abnormalities , Scalp/physiopathologyABSTRACT
Dermatofibrosarcoma protuberans (DFSP) and histiocytofibroma (HF) are two rare fibrohistiocytic tumors, with some overlapping pathologic features. Immunohistochemistry is very useful in these cases. CD34 is a commonly used marker. However, the increasing cases of CD34 negative DFSP make it pressing to test other immunohistochemical markers that could help in the differential diagnosis. DFSP is known to harbor COL1A1-PDGFB rearrangement. Tumors in the differential diagnosis of DFSP usually lack this molecular signature. Recent studies suggested the interaction of PDGFB and PDGF receptor b with various signaling pathways, including the Akt-mTOR pathway. Cyclin D1, one of the oncoproteins activated in this pathway, may represent a promising useful biomarker in the differential diagnosis. On the other hand, CD10 expression in specialized mesenchymal skin cells, and especially in fibrohistiocytic skin tumors has been reported, which raises the interest of using this biomarker in HF and DFSP. In this study, we aimed to compare the expression of CD10 and cyclin D1 in 15 cases of DFSP and 15 cases of HF and discuss their potential contribution in the differential diagnosis.
Subject(s)
Biomarkers, Tumor/biosynthesis , Cyclin D1/biosynthesis , Dermatofibrosarcoma/immunology , Histiocytoma, Benign Fibrous/immunology , Neprilysin/biosynthesis , Skin Neoplasms/immunology , Adolescent , Adult , Dermatofibrosarcoma/diagnosis , Female , Histiocytoma, Benign Fibrous/diagnosis , Humans , Male , Middle Aged , Retrospective Studies , Skin Neoplasms/diagnosis , Young AdultABSTRACT
Immunoglobulin A nephropathy (IgAN) is the most common primary glomerular disease. The main challenge in this disease is the evaluation of prognostic factors for end-stage renal disease (ESRD). The aim of our study was to assess the clinical and prognostic implications of C4d staining in primary IgAN. This was a retrospective study, including adults with primary IgAN. The study was conducted over a period of 10 years. Renal biopsies were scored according to the Oxford classification. C4d immunohistochemical staining was performed. We included 44 patients with a sex ratio of 2.6. The average age was 35.1 ± 11 years. Twenty-two patients (57%) had hypertension (HTN). The median proteinuria was 1.92 g/day. The median of the glomerular filtration rate was 47.66 mL/min/1.73 m2. According to the Oxford classification, mesangial proliferation, endocapillary proliferation, glomerulosclerosis, interstitial fibrosis and/or tubular atrophy and crescents were present in 41%, 36%, 86%, 34%, and 25 % of cases, respectively. We found positive glomerular C4d staining in 25 renal biopsies (57%). Age at diagnosis, mean arterial pressure, HTN, and baseline glomerular filtration rate were not correlated with C4d staining. On the other hand, proteinuria was significantly higher in patients with C4d-positive renal biopsy. The median follow-up duration was 30.5 months. Ten patients (23%) reached ESRD. At univariate analysis, positive C4d staining in more than 25% of glomeruli in patients without C1q deposition in the immunofluorescent study was associated with ESRD. Our study confirms the prognostic value of C4d staining in primary IgAN.
Subject(s)
Complement C4b/metabolism , Glomerular Mesangium/metabolism , Glomerulonephritis, IGA/diagnosis , Kidney Failure, Chronic/etiology , Peptide Fragments/metabolism , Adult , Disease Progression , Glomerular Filtration Rate , Glomerular Mesangium/pathology , Glomerulonephritis, IGA/complications , Glomerulonephritis, IGA/metabolism , Humans , Hypertension , Kidney Failure, Chronic/diagnosis , Kidney Failure, Chronic/epidemiology , Kidney Failure, Chronic/metabolism , Middle Aged , Prognosis , Proteinuria/diagnosis , Proteinuria/epidemiology , Retrospective Studies , Staining and Labeling , Young AdultABSTRACT
Intrahepatic cholangiocarcinoma masquerading as liver abscess, and presenting with fever, is a very rare situation and should be considered in nonresolving liver abscess. Only few cases were reported in the literature. This entity is characterized by late diagnosis and poor prognosis.
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Hepatocellular carcinoma (HCC) arising from hepatic adenoma is an infrequent situation. Only a few cases were reported in the literature. We present a rare case of hepatocellular carcinoma arising from HA in a young woman with no medication history of oral contraceptives. Surgical resection is the only available treatment.
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Immunoglobulin A nephropathy is the most common primary glomerular disease. The main challenge in this disease is the evaluation of prognostic factors for end-stage renal disease. The aim of our study was to describe the characteristics of immunoglobulin A nephropathy, to evaluate the histological data according to Oxford classification, and to identify factors associated with renal survival. This was a retrospective study, including adults with primary immunoglobulin A nephropathy. The study was conducted over a period of 10 years. Renal biopsies were scored according to Oxford classification. Oxford score, based on the sum of the different histological lesions of Oxford classification, was calculated for each patient. We included 50 patients with a gender ratio (male:female) of 2.8. The average age was 35.6 ± 10.6 years. Fifty-eight percent of the patients had hypertension (HTN). The median proteinuria was 1.9 g/day. The median of the glomerular filtration rate was 47.6 mL/min/1.73 m2. According to Oxford classification, mesangial proliferation, endocapillary proliferation, glomerulosclerosis, interstitial fibrosis, and/or tubular atrophy and crescents were present in 40%, 38%, 88%, 36%, and 22% of the cases, respectively. The median Oxford score was 2. The median follow-up duration was 30 months. Ten patients (20%) reached end-stage renal disease. At univariate analysis, HTN, glomerular filtration rate, proteinuria, tubular involvement, and Oxford score >3 were associated with progression to end-stage renal disease (ESRD). Tubular involvement was an independent risk factor for ESRD. Our study confirms the prognostic value of the Oxford classification in immunoglobulin A nephropathy.
Subject(s)
Glomerular Mesangium/pathology , Glomerulonephritis, IGA/classification , Glomerulonephritis, IGA/pathology , Kidney Tubules/pathology , Adult , Atrophy/pathology , Biopsy , Disease Progression , Female , Fibrosis , Follow-Up Studies , Glomerular Filtration Rate , Glomerulonephritis, IGA/complications , Glomerulonephritis, IGA/physiopathology , Humans , Hypertension/complications , Kidney Failure, Chronic/etiology , Male , Middle Aged , Prognosis , Proteinuria/etiology , Proteinuria/urine , Retrospective Studies , Risk Factors , TunisiaABSTRACT
The term desmoplastic infantile ganglioglioma was coined by VandenBerg et al in 1987. In their first report these authors referred to a rare, distinct brain tumor. About 60 cases of desmoplastic infantile ganglioglioma have been described in the literature since its first description. We report a case of a 6-year-old girl who was admitted for seizure without family history. Magnetic resonance imaging scan showed a hypodense area in the right temporal region. A right temporal craniotomy was performed and the tumor was excised. The pathologic examination revealed the diagnosis of desmoplastic infantile ganglioglioma.