2.1 History

A 21-year-old female of Afghan descent was referred to our pituitary clinic with a primary complaint of progressively worsening eyesight over the past 10 years. The patient had no significant medical or surgical history and was not on any medications. She reported experiencing mild headaches, described as tension-type headaches. Additionally, she is not married and has never had menstruation.

2.2 Physical Examination

She appeared slightly lethargic, with a low tone of voice, apathetic behavior, and a depressed attitude. Visually, she had periorbital edema, a puffy face, and notable features of acromegaly, including large hands. Her height was 196 cm (Figure 1). During the general medical examination, her blood pressure was recorded at 100/75 mmHg, her heart rate was 67 beats per minute, and her body temperature was 36.4°C. Lung and heart examinations showed no abnormal findings. Additionally, she had non-pitting edema in both legs, rated as 1+ in severity.

The neurological examination revealed that the sensory assessment was normal, aside from pinprick hypesthesia on the right side of her face. The motor evaluation indicated normal muscle strength but a significant decrease in muscle tone. The reflex assessment showed generalized hyporeflexia in deep tendon reflexes (1+). Eye movements were normal in both eyes, and other cranial nerve evaluations were within normal limits. During the cranial nerve examination, visual acuity was evaluated, with the right eye only able to perceive hand motion, while the left eye could count fingers at a distance of 30 cm. Due to the limited visual acuity, the visual field examination was deferred. Fundoscopic examination showed right optic nerve atrophy, and the left optic nerve had Frisen Grade I edema. The pupillary exam revealed a relative afferent pupillary defect in the right eye.

3.1 Diagnostic Assessment

She came with a non-enhanced CT scan of the brain (Figure 2), which showed a mixed-density mass in the right middle fossa and sella region, extending to the posterior fossa through the incisura. The sella cavity was enlarged and showed bony destruction. We performed a gadolinium-enhanced MRI of the brain, which demonstrated mixed hypointensity on T1 and mixed hyperintensity on T2 (Figure 3), along with heterogeneous enhancement. A cystic component was noted in the right middle fossa, as well as a posterior fossa component. Following the gadolinium injection, we observed leptomeningeal enhancement with seeding between the frontal lobes, over the brainstem, around the VII/VIII cranial nerves, and near the jugular foramen (Figure 4).

Our initial biochemistry results were largely within normal limits; however, the hormonal laboratory findings indicated several abnormalities. The 8 AM serum cortisol was decreased at 1.9 (with a normal lower limit of 5), and T4 was also decreased at 4.2 (normal lower limit: 4.8). Prolactin levels were found to be elevated at 63 (normal upper limit: 24), while growth hormone was greater than 50 (normal range: up to 8). Additionally, IGF-1 was notably elevated at 435 (normal range: up to 270). All other hormonal tests remained within normal limits.

3.2 Therapeutic Interventions

The primary differential diagnosis was a growth hormone-producing pituitary adenoma. Due to low T4 and cortisol levels, treatment was initiated with levothyroxine at 100 μg per day and hydrocortisone at 100 mg three times daily. Three weeks later, the patient underwent a right pterional craniotomy and transcranial subtotal resection of the tumor. During surgery, the tumor appeared yellowish-gray with a soft consistency, allowing for easy suction, and there was no excessive bleeding, resulting in an estimated blood loss of 400 cc over 200 min.

Figure 5 shows the postoperative CT scan. She was extubated 2 h later in the ICU. Although there was no improvement in the right eye's visual acuity, the left eye showed slight improvement, with the patient able to count fingers at about 1 m. The patient did not exhibit signs of diabetes insipidus. On the second postoperative day, laboratory tests revealed decreased growth hormone levels to 30 and IGF-1 at 327. The patient was discharged on the fifth day from the hospital with a prescription for levothyroxine at 100 mcg per day and hydrocortisone at 20 mg twice daily.

4.1 Pathology Examination

Pathological examination revealed sheets and nests of large cells with eosinophilic, granular cytoplasm and a central nucleus containing prominent nucleoli, as shown in Figure 6. The specimen was positive for immunohistochemistry (IHC) markers CAM 5.2, chromogranin, synaptophysin, and growth hormone (GH), indicating a somatotroph pituitary neuroendocrine tumor (Pit-NET). P53 was negative, while Ki-67 and MIB-1 showed positivity in less than 1% of tumor cells. Based on the pattern of GH IHC, the pathological diagnosis was determined to be sparsely granulated somatotroph Pit-NET.

4.2 Outcome and Follow-Up

The patient visited 3 weeks post-discharge, during which time her symptoms of hypothyroidism and hypocortisolism showed significant resolution. Due to the identified pattern of leptomeningeal metastasis, as well as findings in the pathological report indicating sparsely granulated somatotroph adenoma, the patient has been referred to a radio oncologist for the initiation of chemoradiotherapy. The patient underwent chemotherapy with temozolomide, and in the third-month follow-up, her endocrinological tests were within normal limits, except her growth hormone level was 20, and IGF1 was 253 at the third-month follow-up.