RESUMEN
Introduction: Alkaptonuria is an autosomal extremely rare recessive metabolic disorder with incidence reported to occur as 1:100 000-1:250 000 live births worldwide. This rare metabolic disorder is characterized by the accumulation of homogentisic acid due to a deficiency in homogentisic acid 1,2 dioxygenase. Homogentisic acid subsequently oxidizes and accumulates in the connective tissue. The knee is the most significant peripheral joint to be affected by the disorder. The authors present the first case of ochronotic arthropathy in Syria. Case presentation: A 46-year-old male presented with bilateral pain in the knees. the pain was affecting his day-to-day activities, and not responding to conservative management. Anteroposterior standing radiographs demonstrated extensive degenerative disease. Intraoperatively, the diagnosis was done after noticing that the quadriceps tendon and the articular cartilage of the femur, tibia, and patella were blackened during cemented total knee replacement of the knee. Conclusion: Ochronotic arthropathy should be kept in mind in middle age patients with severe osteoarthritis to not be surprised by the rare alkaptonuria diagnosis if arthroplasty was indicated.
RESUMEN
Rare diseases such as primary thyroid lymphoma (PTL) and paragangliomas exist. Although only 0.5% of patients experience a transformation from thyroiditis to PTL, patients with Hashimoto's thyroiditis have a higher risk of developing PTL than the general population. Primary non-Hodgkin lymphoma of the thyroid is rare. Paragangliomas are neuroendocrine tumors that originate from chromaffin cells situated along the sympathetic and parasympathetic chains. This paper reports the first case of primary diffuse large B-cell lymphoma with nonfunctional paraganglioma. A 29-year-old female presented with an enlarged neck and recurrent compressive symptoms. Ultrasonography results showed a nodule in the right lobe of the thyroid gland. Emergency thyroidectomy was performed after obtaining inconclusive fine-needle aspiration results. Immunohistopathology of the biopsy specimen confirmed the presence of a large diffuse B-cell lymphoma. Computed tomography revealed a nonfunctional mass in the adrenal gland. The team then proceeded with the appropriate treatment.
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Thyroid-like follicular carcinoma of the kidney (TLFCK) is a rare cancer that emerged to the medical literature only a few years ago. We present here the first case of thyroid follicular carcinoma-like renal tumor from Syria. The case presented symptomatically and was managed in our surgical unit. Generally, the presenting age described for the previous cases was 19-60 (mean 39.5) with only three cases with younger ages. Here in our case, the patient is only 13 years old making this only the fourth case worldwide of TLFCK in a child. The microscopic view of the tumor showed distinct thyroid features. In addition the immunohistochemical stains played the definitive role in the diagnosis. The staining for Vimentin, and CK19 were diffusively positive. CK7 was focally positive, whereas TTf1, Thyroglobulin, WT1, CD10 and EMA were negative. It is important to consider this diagnosis to spare the patient the treatment protocol of primary thyroid cancer with metastasis.
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Primitive neuroectodermal tumor (PNET) mainly arises from soft tissues of the extremities such as humerus, femur, C tibia. It rarely arises from kidney; less than 200 cases have been reported in the literature. The clinical presentation and radiography findings are not specific. Here we first report two cases of renal primitive neuroectodermal tumor in Syria. the first patient was 26-year-old- female that presented to urology clinic complaining of right flank pain. Ultrasonography of the abdomen showed a large mixed heterogeneous mass in the right kidney with no hemorrhage or calcification and MSCT of abdomen and pelvis demonstrate a mixed well-demarcated heterogeneous mass measuring (74*117) mm in the right kidney right radical nephrectomy was performed. The second patient 19-year-old-male presented with left flank pain. Ultrasonography of the abdomen showed mixed large mass involving the left kidney, with unmarked border. The CT of the abdomen and pelvis demonstrating a (30*110*90) mm left renal mass and periaortic lymphadenopathy measuring (45*28) mm. The patient underwent Left radical nephrectomy with periaortic lymphadenectomy dissection. The final diagnosis for both cases was Renal PNET based on microscopic and immunohistochemistry examination. In patient with suspected renal mass in the radiographic images, the diagnosis of renal primitive neuroectodermal tumor should be kept in the mind despite its rarity. The final diagnosis is done by histopathological study in association with immunohistochemical examination.
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Introduction: Gastric cancer (GC) is the fifth most common cancer and the fourth leading cause of death. It is much more common in advanced age and it is rare among the youngest patients (under 45 years of age). Case presentation: we report an unusual presentation of advanced gastric adenocarcinoma in 39-year-old man, who presented to our hospital with inguinal hernia without obvious gastrointestinal symptoms. He had strong family history of cancer, heavy smoking habit and weight loss. The intra-operative procedure identified a cyanotic separate spermatocele which was confirmed by the urologist. During investigation we found multiple liver metastasis in abdominal CT and advanced gastric adenocarcinoma from gastric biopsy and metastasis in spermatic cord sample and peritoneum sample of poorly differentiated adenocarcinoma. Conclusion: Although stomach adenocarcinoma is extremely rare in young patient but it should be kept in mind of physicians as a possible diagnosis if there are many risk factors.