A Rare Case of Concurrent Chromophobe Renal Cell Cancer with Lung Neuroendocrine Tumor: A Case Report and Literature Review.

Introduction: Multiple primary malignancies (MPM) may be in one organ or in multiple separate organs. They are categorized into synchronous and metachronous according to the time interval between the two malignancies. Multiple risk factors could be attributed to the development of second primary malignancy. Case presentation: The authors report a case of a 51-year-old male patient with renal cell carcinoma. During his evaluation, he seemed to have a lung mass which revealed to be a carcinoid tumour. As the patient had two primary malignancies, he was managed according to the treatment options for each tumour. Discussion: Although MPMs have been reported increasingly in the past decade, overall incidence is still very rare. Appropriate management and survival depend on distinguishing between dual primary tumours from metastatic disease. Conclusion: Multidisciplinary approach is very crucial for diagnosis and management such rare cases.

Factitious cushing's syndrome with unusual presentation: a case report and literature review.

Munchausen syndrome is known as a factitious disorder imposed on the self. Factitious Cushing's syndrome (CS) is a very rare form of Munchausen syndrome, presenting with varied clinical and biochemical features, making diagnosis challenging. Case Presentation: A 40-year-old female patient who worked as a registered nurse presented with clinical features of CS but denied any exogenous corticosteroid use. The endocrine workup revealed that the patient had a high 24 h urinary-free cortisol collection before admission. Subsequent evaluations showed low levels of morning cortisol and plasma adrenocorticotropic hormone along with a suppressed overnight low-dose dexamethasone suppression test, leading to an investigation of hypercortisolism. Unexpectedly, subsequent testing showed a normal 24 h urinary-free cortisol level. Additionally, the patient was diagnosed with panhypopituitarism, the radiological investigations showed normal pituitary and adrenal glands. Despite consistently denying the use of corticosteroids, it was finally discovered that the patient had been surreptitiously taking prednisone and receiving multiple dexamethasone injections over the past few months. The patient received treatment through a gradual prednisone tapering regimen, accompanied by comprehensive psychiatric evaluation and management. Conclusion: This case underscores the exceptional rarity of factitious CS and emphasizes the importance of considering it as a potential differential diagnosis in hypercortisolism cases, particularly when the patient's medical history contradicts investigative findings. Furthermore, it highlights the criticality of adopting a multidisciplinary approach to investigate patients whose clinical presentation aligns with factitious CS.

Epithelioid angiosarcoma of the adrenal gland with metastasis: a case report and literature review.

Primary adrenal epithelioid angiosarcoma is an exceptionally rare condition, with only 51 cases reported in the literature since 1988. Case presentation: We report a case of a 59-year-old male patient who presented with a 4-month history of left flank pain and anemia. Radiographic imaging identified a 14 cm mass lesion in the left suprarenal region, which showed heterogeneous enhancement. The patient underwent total adrenalectomy with tumor-free surgical margins. Histological sections showed features consistent with an epithelioid tumor, and immunohistochemical staining confirmed the diagnosis of epithelioid angiosarcoma of the left adrenal gland. Discussion: Primary adrenal epithelioid angiosarcoma is a very rare entity. It was first described by Kareti et al. in 1998. The most common presentation is an abdominal mass associated with pain. As there are no specific imaging findings for this tumor, histology combined with immunohistochemistry is the most definitive diagnostic method. Surgery with adjuvant chemotherapy is the management reported for previous cases. Conclusion: In cases of rare malignancies, interdisciplinary collaboration is crucial for determining the optimal management strategy.

Metastatic pulmonary adenocarcinoma after 20 years of primary pancreatic adenocarcinoma resection: A case report and literature review.

Introduction: Recurrency of Pancreatic adenocarcinoma after resection can be as high as 85%. Most of the recurrences happen within two years of pancreatic resection and may be local or present as a metastatic disease. Clinical presentation: Herein, we report a patient who presented with metastatic pulmonary adenocarcinoma after 20 years of curative resection of pancreatic adenocarcinoma. Histopathology of the pulmonary mass confirms the diagnosis as a metastatic adenocarcinoma of gastrointestinal origin. Conclusion: Despite the length of the disease-free period, lung metastasis of pancreatic cancer is the most likely diagnosis according to the clinical course, histopathology and biochemical tumor marker. Tumor marker Ca19-9 is very sensitive and reliable test to detect recurrency of pancreatic cancer even if the imaging modalities cannot detect the tumor.

Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene.

BACKGROUND: Niemann-Pick disease type C (NPC) is an autosomal recessive, neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of tissue-specific lipids in lysosomes. METHODS: We described sixteen patients with NPC diagnosed between the age of 1 month and 30 years at two tertiary care centers in Palestine. The clinical phenotype, brain magnetic resonance imaging (MRI), and molecular genetic analysis data were reviewed. RESULTS: The diagnosis was confirmed by molecular analysis in all patients. Fourteen out of sixteen patients were homozygous for the NPC1 p.G992W variant. Among them, most were categorized as having the late-infantile neurological form of disease onset. They predominantly manifested with early-onset visceral manifestations in the form of hepatosplenomegaly and prolonged neonatal jaundice, and late-onset neuropsychiatric manifestations in the form of vertical supranuclear gaze palsy (VSGP), ataxia, cognitive impairment and seizures. Brain MRI in 6 patients was normal in 5 or consistent with cerebellar hemisphere atrophy in 1 of them. Two other mutations were identified in the NPC1 gene, of which p.V845Cfs*24 was novel. CONCLUSIONS: Our results revealed phenotypic heterogeneity of NPC even within the same genotype, and add to the increasingly recognized evidence that cholestatic jaundice and hepatosplenomegaly during infancy, should alert the physician for the possibility of NPC. We reported a novel mutation in the NPC1 gene further expanding its genotype.