Abstract #1408202: A Case of Rathke's Cleft Cyst with Multiple Associated Endocrinopathies

Abstract

Rathke Cysts are cystic sellar or suprasellar lesions deriving from the remnants of Rathke’s pouch. During fetal development, Rathke’s pouch migrates from the oral ectoderm to what eventually develops as the sellar region. The pharyngohypophyseal stalk connecting Rathke’s pouch to the stomodeum is obliterated by growth of the sphenoid bone. Inadequate obliteration of the pharyngohypohyseal stalk results in formation of the rathke cyst. While most cases of Rathke cyst are asymptomatic, they may present with headache, vision loss, pituitary hormone deficiency, and diabetes insipidus. We present the case of a 44-year-old female with a history of cerebral palsy, secondary amenorrhea beginning at age 30, and blindness who presented to the hospital with generalized weakness and altered mental status. The degree and nature of visual impairment could not be assessed in the inpatient setting due to the patient’s altered mental status. She was found to have a urinary tract infection and was started on antibiotic therapy. Hospital course was complicated by hypotension refractory to fluid resuscitation. Further workup demonstrated low AM cortisol responsive to cosyntropin stimulation, and hypotension resolved with IV scheduled hydrocortisone. Pituitary lab follow-up demonstrated low estradiol with inappropriately normal gonadotropin levels, low Free T4 with inappropriately normal TSH, low IGF-1, and normal prolactin. MRI revealed a 2.4x1.7x2.2cm suprasellar mass consistent with Rathke cyst, with obliteration of the optic chiasm, pituitary parenchyma, and infundibulum. The patient’s adrenal insufficiency, panhypopituitarism, blindness, and amenorrhea were likely caused by mass effect on the optic chiasm and pituitary gland. Secondary adrenal insufficiency was managed with physiologic hydrocortisone dosage and secondary hypothyroidism was managed with oral levothyroxine. Outpatient neurosurgical intervention was recommended for cyst resection. This case represents a rare, symptomatic presentation of a Rathke cyst with vision loss and multiple endocrinopathies. Visual symptoms, which may include visual field defects, decreased visual acuity or oculomotor palsies, arise from mass effect on the optic chiasm or cavernous sinus. For these patients, surgical resection may recover visual function or prevent irreversible vision loss. Rathke cyst may also present with hypopituitarism. Restoration of pituitary function following resection is less common than resolution of visual symptoms. In patients presenting with visual disturbances, adrenal insufficiency, and hypopituitarism, a diagnosis of symptomatic Rathke cyst or other sellar mass should be considered.