A Case Report Emphasizing the Importance of Early Diagnosis and Management of Intracranial Germinoma

Abstract

Intracranial germ cell tumors (GCTs) account for 3%-5% of all intracranial tumors. They commonly manifest during first two decades of life. We are reporting a case of a young female, who presented with progressive visual loss, polyuria and polydipsia, harboring an intracranial GCT. She presented initially to a neurosurgery clinic and then to an endocrine clinic, with a history of chronic worsening headache and recent onset visual blurring along with polyuria with polydipsia. On further inquiry, she was found to have primary amenorrhea, easy fatigability, and failure of development of secondary sexual characteristics. On examination the patient had bitemporal hemianopia with breast development at tanner stage II and pubic and axillary hair at tanner stage I. Her initial hormonal workup was suggestive of panhypopituitarism with diabetes insipidus. MRI pituitary showed a sellar mass with suprasellar extension, so an initial impression of a pituitary macroadenoma was made and the patient underwent trans-sphenoidal surgery. The histopathology was suggestive of lymphoid hyperplasia. Follow up MRI showed significant residual tumor and her vision and pituitary function did not recover. Neurosurgery was planned as second surgery, but we requested a second opinion of histopathology report and it was suggestive of a germinoma. She was then started on chemotherapy followed by radiotherapy, after which her tumor size reduced significantly, though she still required pituitary hormone replacement therapy. Pituitary stalk lesions are rare and their diagnosis is challenging as different etiologies present clinically and radiologically in a similar manner with tissue diagnosis being the gold standard. Germinoma is a radiosensitive tumor. In our patient it took a long time to reach the correct diagnosis and late diagnosis resulted in permanent visual field defect and panhypopituitarism. This case report emphasizes that we should guide and educate our patients to seek medical advice early in the course of disease. We should also keep differential diagnosis in mind before referring the patient for surgery.

Germinoma supraselar en paciente pediátrico como causa de desnutrición crónica reporte de caso

“…En el germinoma supraselar la mediana de edad de diagnóstico es de 10 a 12 años y casi el 90% de los casos se diagnostican antes de los 20 años. (Ram, Batool, & Mushtaq, 2020). La diseminación del tumor no es muy frecuente; tienden a diseminarse mediante el líquido cefalorraquídeo, generalmente a la médula espinal, lo que, en general, le confiere buen pronóstico, con tasas de supervivencia de hasta un 90 %(Camilo Marchán Cárdenas, Piedad isbal Spirko, & Alfonso Acosta Fernández, n.d.).…”

Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma

“…Therefore, an isolated thickened pituitary stalk may be the first radiological appearance of a hypothalamo-hypophyseal germinoma [ 61 , 62 ]. However, they have a delay in diagnosis of a median of 1.4 years, due to insidious onset of symptomatology and MRI findings, often suggestive of inflammation (lymphocytic hypophysitis), pituitary adenomas, and secondary neoplasms, with radiological appearance similar to germinomas [ 63 , 64 , 65 ]. Nonetheless, GCT represent 66.7% of widened pituitary stalk causes in paediatric population, whereas germinomas represent the second etiology (21–31%) of enlarged pituitary stalk in adults [ 62 , 66 ].…”

Value of C-11 methionine PET/CT in patients with intracranial germinoma

“…IGs are potentially malignant in behavior, and can infiltrate normal brain tissue as well as spread through the whole of the central nervous system (CNS) [ 4 ]. However, these lesions are highly sensitive to radiotherapy or/and chemotherapy, and are potentially curable without complete surgical resection [ 5 – 7 ]. Given that these tumors have a highly favorable treatment response and delayed treatment can cause more severe neurologic complications, early and accurate diagnosis is essential for better clinical outcomes in patients with IGs.…”