Suprasellar germinomas in childhood and adolescence: diagnostic pitfalls.
The clinical and neuro-endocrine data of seven young male patients with suprasellar germinomas seen between 1984 and 1992 are reported. The most common initial symptom was 'idiopathic' central diabetes insipidus (DI), which occurred in all seven patients. The time interval between the appearance of this first clinical sign and the definitive diagnosis of a suprasellar germinoma ranged from 3 to 66 months. Raised prolactin levels and growth hormone deficiency were indicators of a process located in the hypothalamic-pituitary region. An increased beta-HCG level in the serum or the CSF confirmed the diagnostic suspicion of a germinoma and was helpful as a tumor marker in follow-up. Neuro-radiologic studies (CT or MRI) were also disappointing in the early stage when patients presented only with DI. Later on, as patients developed additional symptoms or signs related to the tumor, imaging studies were positive. Given the variable rate of tumor progression, the nonspecific early signs of hypothalamic-pituitary dysfunction (DI) as well as the often negative early imaging studies, the diagnosis of suprasellar germinoma is difficult but should always be considered in the presence of so-called 'idiopathic' central DI. Repeated brain MRIs are mandatory in young patients with idiopathic DI in order not to miss an underlying suprasellar germinoma.
Ramelli
G P
GP
Department of Pediatrics and Endocrine, University of Bern, Switzerland.
von der Weid
N
N
Stanga
Z
Z
Mullis
P E
PE
Buergi
U
U
D000293:Adolescent; D000328:Adult; D001932:Brain Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D002648:Child; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood / Q000134:cerebrospinal fluid; D003919:Diabetes Insipidus / Q000175:diagnosis / Q000209:etiology; D003937:Diagnosis, Differential; D018237:Germinoma / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011388:Prolactin / Q000097:blood; D012658:Sella Turcica; D014057:Tomography, X-Ray Computed
D018997:Chorionic Gonadotropin, beta Subunit, Human; D011388:Prolactin