Background: Pineal germ cell tumors are rare in adulthood. It usually comes to medical attention due to mass effect. Endocrine manifestations are also prominent in the clinical presentation and may precede neurologic symptoms.
Clinical case: We report the case of a 30-year old male who presented with a 6-month history of bitemporal headache, doubling of vision and nonprojectile vomiting. Recall revealed that he exhibited symptoms of panhypopituitarism as early as two years prior. He also had excessive thirst, polyuria and nocturia. Five months upon presentation, he developed rapidly progressive pain then numbness of both lower extremities which eventually culminated in loss of motor strength and sensation. Physical examination showed limitation of vertical movements of both eyes, paraplegia and hypoesthesia of both lower extremities.
Investigations confirmed anterior pituitary failure with central hypothyroidism, adrenal insufficiency, hypogonadism and diabetes insipidus. Tumor markers alpha-fetoprotein and beta HCG were elevated. Imaging revealed obstructive hydrocephalus and a 5.8×5.4×4.6 cm pineal gland tumor with normal sella. Magnetic resonance imaging of the spine showed spinal cord lesions and leptomeningeal enhancement. A diagnosis of pineal nongerminomatous germ cell tumor with spinal cord and leptomeningeal carcinomatosis was made.
Hormonal deficiencies were replaced with oral L-thyroxine, prednisone and desmopressin. The patient underwent cranial irradiation which resulted in more than 50% regression in the tumor size. Spinal radiotherapy yielded sensory but no motor recovery. Chemotherapy was initiated using bleomycin, etoposide and cisplatin. He developed nosocomial pneumonia and febrile pneumonia 1 week later to which he succumbed.
Conclusion: The characteristic clinical triad of diabetes insipidus, anterior pituitary failure and visual disturbances is a harbinger of a pineal germ cell tumor. It may present with panhypopituitarism even in the absence of pituitary involvement on imaging. Thorough endocrine evaluation and hormone replacement is essential in its management.
27 Apr - 01 May 2013
European Society of Endocrinology