Primary germinoma of the medulla oblongata: illustrative case.

BACKGROUND: Primary central nervous system germinomas of the medulla oblongata are extremely rare and usually have been found in young female Asian patients. The authors present an illustrative case of a patient who presented with severe medullary and posterior cord syndrome, the first South American case published to date, to the authors' knowledge. OBSERVATIONS: Initially, the radiological differential diagnosis did not include this entity. The lesion was located at the obex and exhibited a well-delineated contrast enhancement without hydrocephalus. An emergency decompressive partial resection following functional limits was performed. After histological confirmation, radiotherapy was indicated, with complete remission achieved at a 6-month follow-up. The patient, however, continued to have a severe proprioceptive disorder. The literature review identified 21 other such patients. The mean age for this location was 23 years, with a strong female and Asian origin predilection. All tumors exhibited contrast enhancement, and only one presented with hydrocephalus. LESSONS: In the absence of elevated tumor markers, radiological clues such as a well-delineated, contrast-enhanced lesion arising from the obex, without hydrocephalus, associated with demographic features such as young age, female sex, and Asian heritage, should evoke a high level of suspicion for this diagnosis. Gross total resection must not be attempted, because this tumor is potentially curable with high-dose radiotherapy.

Delayed diagnosis in children with intracranial germ cell tumors.

OBJECTIVE: To review symptoms and provider history in a large cohort of patients with germ cell tumors (GCTs) to highlight the variety of manifestations and assess the effect of delayed diagnosis on outcomes. STUDY DESIGN: Patients treated for intracranial pure germinoma and nongerminomatous GCTs at Massachusetts General Hospital between 1998 and 2012 were included (n = 70). The primary outcome was time from onset of symptoms to diagnostic imaging. Delay was defined as an interval of ≥ 6 months. RESULTS: The median duration of symptoms before diagnostic magnetic resonance imaging was 6 months (range, 2 days to 72 months). Thirty-eight of the 70 patients (54%) had a delayed diagnosis. Patients with suprasellar tumors presented with symptoms related to endocrinopathies, and patients with pineal region tumors presented with symptoms related to hydrocephalus. Most of the patients were evaluated by a general pediatrician (49%) and/or pediatric subspecialists (66%) before diagnosis. Patients with delayed diagnosis saw a greater number of physicians before diagnosis (P = .006). The majority of patients (63%) with delayed diagnosis were seen by 2 or more physicians, and many (40%) were seen by 2 or more subspecialists. Progression-free survival was similar in the patients with delayed diagnosis and those without delayed diagnosis (P = .90), but the former were more likely to present with disseminated disease at diagnosis (34% vs 6%; P = .007). CONCLUSION: A significant proportion of patients with GCT experience a delay in time to diagnosis, in some cases despite evaluation by general pediatricians and specialists. This delay increases the risk of disseminated disease.