ABSTRACT
BACKGROUND/AIMS: Growth hormone (GH) excess in children with chiasmal optic pathway tumors (OPT), often associated with neurofibromatosis type 1 (NF1), is likely underrecognized. These children have elevated insulin-like growth factor 1 (IGF-1) levels, evidence of rapid growth despite treatment of precocious puberty, and failure to suppress GH levels following oral glucose challenge. The aim of this report is to describe the treatment course and natural history of this rare clinical condition in 7 patients. METHODS: This is a descriptive case series of 5 children previously described and 2 additional children more recently diagnosed at our institution. All 7 children had clinical and biochemical evidence of GH excess and received treatment with the somatostatin analog octreotide. RESULTS: Length of treatment varied among the patients. Five of the 7 patients have had resolution of GH excess and currently have normal IGF-1 levels without treatment. CONCLUSIONS: Unrestrained GH secretion occurs in a subset of children with OPT with potential adverse outcomes. Since GH excess appears to resolve over time, the benefit of treatment to alter outcomes or prevent tumor progression is unclear.
Subject(s)
Human Growth Hormone/blood , Neurofibromatosis 1/blood , Optic Nerve Neoplasms/blood , Adolescent , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Insulin-Like Growth Factor I/metabolism , Male , Neurofibromatosis 1/therapy , Optic Nerve Neoplasms/therapyABSTRACT
While yolk sac tumor is one of the most common malignant germ cell tumors occurring in young children, it is rarely found in extragonadal sites. We report a case of intraocular yolk sac tumor in a 4-year-old boy. The diagnosis was confirmed by histologic examination and by the rapid normalization of serum alpha-fetoprotein level following enucleation. We propose that yolk sac cells can potentially migrate into the eye at 22 days of embryonic life during neural tube formation, when the head and tail of the neuropore open contemporaneously and communicate with the amniotic cavity.
Subject(s)
Choroid Neoplasms/pathology , Endodermal Sinus Tumor/pathology , Optic Nerve Neoplasms/pathology , Retinal Neoplasms/pathology , Child, Preschool , Choroid Neoplasms/blood , Choroid Neoplasms/diagnostic imaging , Endodermal Sinus Tumor/blood , Endodermal Sinus Tumor/diagnostic imaging , Eye Enucleation , Humans , Immunoenzyme Techniques , Male , Optic Nerve Neoplasms/blood , Optic Nerve Neoplasms/diagnostic imaging , Retinal Neoplasms/blood , Retinal Neoplasms/diagnostic imaging , Tomography, X-Ray Computed , alpha-Fetoproteins/analysisABSTRACT
PURPOSE: To report an unusual case of optic nerve seeding 12 years following treatment of a suprasellar germinoma. METHODS: Observational case report. RESULTS: A 34-year-old woman presented with a 3-week history of subjective right eye visual loss. She had been diagnosed with a suprasellar germinoma at 22 years of age, which had been partially excised and radiated (5400 cGy). The tumor had shown complete radiographic regression without neurologic sequelae. Pertinent findings on current examination included right eye visual acuity of 20/150, right relative afferent papillary defect, and optic nerve pallor in the right eye. In addition, partial left facial paralysis was noted. Examination was otherwise unremarkable including 20/20 acuity in the left eye. Magnetic resonance imaging demonstrated abnormal enhancement and thickening of both optic nerves and along the course of the left V and VII cranial nerves. Serum levels of alpha-fetoprotein and beta-HCG were abnormal, consistent with metastatic germinoma. Following two cycles of chemotherapy (VIP-etoposide, ifosfamide, and cisplatin), visual acuity returned to 20/20 bilaterally, with corresponding radiographic improvement and normal cerebrospinal fluid cytology. CONCLUSIONS: Perioptic subarachnoid seeding may occur over a decade after presumed successful treatment of germinomas, suggesting the importance of lifelong observation.
