Pediatric Case of Li–Fraumeni Syndrome in Honduras
The patient is a 12-year-old male from a rural area of Honduras who was evaluated by pediatric emergency services at a second-level hospital of Honduras for a moderate headache with 1 month of persistence. At the time of evaluation, the patient referred the headache to be pulsatile and holocranial, with a duration of several hours and is unresponsive to NSAIDs. Additionally, the patient presented with episodes of projectile vomiting, seizures, right hemiparesis, and progressive gait disturbance. No relevant pathological history is noted.

During the physical examination, the patient remained in a postictal state with neurological deterioration, memory impairment, and conduct disorder. There were also signs of intracranial hypertension. A CT was performed upon admission, which revealed a cystic lesion with irregular borders in the left parietal region that displaced the midline. Perilesional edema was also observed, as well as hydrocephalus. The lesion was surgically excised, revealing a 10×7cm mass taken from the posterior horn of the lateral ventricle. An external ventricle shunt was put in place to maintain intracranial pressure. There were no intraoperative or postoperative complications.

Histopathological studies revealed focal papillary neoplasia consistent with choroid plexus carcinoma (grade III). Due to the association of choroid plexus carcinomas with autosomal dominant germline mutations of the TP53 gene, the patient's three-generation family history was reviewed. In the paternal side, multiple cases of liver and cervical cancers were discovered. The maternal side did not present a neoplastic history. The study reported the finding of hypercellular neoplasia with pleomorphic tumors cells, mixed patterns of papillary and solid growth, and scattered mitotic activity. Additionally, immunohistochemical studies were positive for cytokine CAM 5.2 and p53, which strongly marked the nuclei of the tumor cells. These studies confirmed the presence of a TP53-mutant choroid plexus carcinoma. The patient had a satisfactory course after surgical resection. Oncological follow-ups were carried out, with six cycles of chemotherapy (with ifosfamide, carboplatin, and etoposide). CT scan after the surgery revealed a subdural collection of approximately 134 ccs in the right frontotemporoparietal region. No remaining mass was observed, and the lateral ventricles were of standard size and shape. According to the latest follow-up, the patient is asymptomatic, although he does refer to some loss of strength in the right side.

Source:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7814941/
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