RESUMEN
Isovaleric acidemia is an autosomal recessive disease of leucine metabolism. The clinical presentation is variable and three phenotypes are described, asymptomatic, acute neonatal, and chronic intermittent. Infections are the most important trigger for catabolic crises. Diagnosis is based on the detection of isovalerylglycine CoA in urine and elevated levels of isovaleryl (C5) carnitine in blood. Long-term treatment consists of prevention of catabolic state, dietary restriction, and supplementation with L-carnitine and/or L-glycine. We present the case of a three-year-old female patient with multiple episodes of decompensation since the age of two years. The episode in which she was diagnosed had encephalopathy, with no neurological sequelae. Currently, the patient continues with dietary restrictions and supplementation with good nutritional and growth results for her age.
RESUMEN
Neuroendocrine carcinoma of the gallbladder (NECGB) is a rare, aggressive tumor with a poor prognosis. There are two main categories, well-differentiated NECGB and poorly differentiated NECGB, the latter with a worse prognosis. The clinical presentation is non-specific, but the occurrence is more frequent in women with cholelithiasis. Histologic and immuno-histochemical confirmation is required to establish the diagnosis. Treatment is primarily surgery with or without adjuvant chemotherapy. We present the case of a 43-year-old woman with pain in the right upper quadrant, diagnosed with NECGB following cholecystectomy. Subsequently, she received cycles of chemotherapy.
RESUMEN
Luxatio erecta (inferior shoulder dislocation) is a rare entity, infrequent, but with a good prognosis. There are two mechanisms for this injury to occur, by an indirect force, which is the most frequent, and by a direct force. Both involve hyperabduction of the arm. The clinical presentation is characteristic and unmistakable. Diagnosis is clinical, but imaging tests are useful to rule out associated injuries and complications. The treatment of choice is closed reduction and, in most cases with favorable results. We present the case of an 83-year-old woman who went to the emergency room with a diagnosis compatible with Luxatio erecta of the glenohumeral joint. Subsequently, a closed reduction was performed with good results. The patient is currently undergoing physical therapy and rehabilitation.
RESUMEN
Epithelioid sarcoma is a rare entity that shows a predilection for the young and middle-aged population. There are two subtypes, i.e., the distal or conventional type, which is located in distal extremities, and the proximal type, located in proximal areas of the extremities, pelvis, perineal, and genital region. The latter is characterized by more aggressive behavior, a higher recurrence rate, and poor prognosis. Histopathological and immunohistochemical diagnoses are key to correct and timely treatment and a higher survival rate. We report a case of a 41-year-old man who presented a palpable progressive growth mass in the hypogastrium. The disease time was of nine months, and the tumor was resected, but it recurred a few months later in the same location. Computed tomography (CT) scans showed images suggestive of lung metastasis and the patient had to undergo a second surgery. He received eight cycles of chemotherapy and a subsequent CT scan control showed the progression of the disease, so a new chemotherapy regimen was established. The patient received three cycles of chemotherapy without improvement, so he decided to discontinue treatment. His last outpatient medical consultation was in January 2022. A systematic review of the studies published in PubMed and Google Scholar was performed. We identified 291 articles, but only 41 reports and case series were included, with a total of 55 patients. It is important to include this type of tumor in the differential diagnosis of epithelial tumors due to its aggressive behavior. Correct and timely diagnosis is crucial to obtain lower recurrence rates, lower mortality, and higher survival rates in these patients.
