ResearchPad - case-reports-in-unusual-pathologies-in-the-pituitary-ii https://www.researchpad.co Default RSS Feed en-us © 2020 Newgen KnowledgeWorks <![CDATA[MON-256 A Late-Onset Case of Sheehan’s Syndrome Presenting as Life Threatening Adrenal Insufficiency]]> https://www.researchpad.co/article/elastic_article_8773 OBJECTIVE

Sheehan’s syndrome or postpartum pituitary necrosis, is an important but rare cause of hypopituitarism, caused due to severe postpartum hemorrhage. Seen more commonly in the developing world, it is less common in developed countries due to advanced obstetric practices. It can present acutely but more frequently has an insidious course (onset 10-20 years later) with variable hormonal deficiencies. Here, we report a late-onset case of Sheehan’s syndrome, 24 years after the incident event, presenting as life threatening adrenal failure.

CASE PRESENTATION

A 48-year-old female with no significant past medical history was admitted to the hospital after being found unresponsive at home. She had not seen a physician for many years. She complained of weakness and lethargy for a week and recently established care with a primary care physician. The patient was severely hypotensive in the emergency department and had an elevated temperature of 101°F. Physical examination showed no significant abnormalities. CBC and metabolic panel were not significantly altered. CSF analysis and CSF/blood cultures were negative for any infection. TSH was 4.29 mIU/mL (0.27-4.20) but the total and free T4 (fT4) were severely low at 1.1 mcg/mL (4.6-12) and 0.24 ng/dL (0.93-1.70) respectively. On further questioning, patient reported severe postpartum hemorrhage 24 years ago, needing multiple units of blood transfusion. This was followed by inability to lactate and menstruate but was never worked up as she had not seen any physician all these years. Pituitary hormonal panel was obtained, demonstrating multiple hormonal deficiencies with fT4 severely low at 0.24 ng/dL, ACTH of 2.6 pg/mL (7.2-63.3), prolactin (PRL) 1 ng/mL (4.8-23.3) and insulin like growth factor-1 (IGF-1) low at 10 ng/mL (56-194). Cortisol level was elevated in the hospital due to administration of high dose IV steroids but a morning cortisol level obtained 1 week prior by her primary was 1.5 mcg/dL (10-20). Estradiol levels were low with FSH and LH levels inappropriately normal. MRI of the pituitary was obtained which showed an empty sella turcica. Patient was diagnosed as late-onset Sheehan’s syndrome. She was started on hormone replacement with hydrocortisone followed by levothyroxine and had marked improvement in her symptoms. She continues to do well.

CONCLUSION

Our patient presented late due to lack of medical care and awareness. A great number of patients with Sheehan’s diseasae go undiagnosed due to subtle clinical presentations, thus delaying treatment. It is imperative to diagnose this condition timely with appropriate obstetric/gynecological history and clinical suspicion to avoid late manifestations of the disease, especially adrenal crisis. Patients at risk need long term follow-up. Early treatment is necessary to improve quality of life and reduce morbidity and mortality associated with this condition.

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<![CDATA[MON-257 Axenfeld Rieger Syndrome: An Uncommon Cause of Growth Hormone Deficiency]]> https://www.researchpad.co/article/elastic_article_8623 Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder presenting with abnormal eye development, which leads to glaucoma related blindness in 50% of individuals. Associated mutations affect the transcription factors pituitary homeobox 2 gene (PITX2) and forkhead box C1 gene (FOXC1). Three types of ARS have been described. PITX2 mutation causes ARS type I, which is associated to systemic malformations, including dental hypoplasia, redundant periumbilical skin, and growth hormone deficiency (GHD).

This is the case of a 28-year-old male diagnosed with GHD during childhood. He was referred to a pediatric-endocrinologist at age 10 due to short stature. Evaluation showed a height-for-age curve below the 10th percentile. Physical examination with prominent forehead, decrease visual acuity, maxillary hypodontia, umbilical hernia, and delayed sexual maturity. Testing with reduced IGF-1 and delayed bone age. Clonidine GH stimulation confirmed the diagnosis of GDH. He was treated with somatropin, until linear growth decreased to ½ inch per year at age 16. GHD etiology was never established. At age 26, he developed progressive decrease in visual acuity. Ophthalmology evaluation disclosed polycoria, megalocornea and increase intraocular pressure, suggestive of ARS. Patient was referred to our endocrinology clinics for follow up of previous diagnosis of GHD. Based on clinical findings and history, sequence analysis and deletion/duplication testing of FOXC1, PAX6 and PITx2 were performed, with results positive for pathogenic variant PITX2, Exon 5, c.363_364delinsAA. Assessment of pituitary hormone axis was normal, and no persistent GHD found. No family members exhibited clinical signs of ARS.

Axenfeld-Rieger syndrome is a rare genetic disease. PITX homeodomain transcription factors are critical for the development of the anterior segment of the eye and pituitary. Most mutations in PITX2 affect DNA binding and transactivation that leads to defects in cell proliferation and differentiation of the Rathke’s pouch. As a result, GHD may ensue. ARS patients are usually diagnosed during childhood after the development of vision abnormalities. The diagnosis remains primarily clinical upon identification of ocular abnormalities in the iris and cornea, and increased intraocular pressure. Systemic changes are rare findings in ARS, but may include face and tooth abnormalities and isolated growth hormone deficiency. Genetic diagnosis is based on identification of mutations. An adequate management of ARS requires a multidisciplinary approach. Although ophthalmologists usually diagnose this condition, some patients initially present with isolated growth impairment. This may lead to a delay in ophthalmologic evaluation and management. Thus, in patients with GHD of unknown etiology, it is important to have a high index of suspicion of ARS in order to decrease morbidity from vision loss.

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<![CDATA[MON-261 Pituitary Abscess Presenting as Pituitary Macroadenoma Causing Hypopituitarism and Acute Meningitis; A Wolf in Sheep’s Clothing]]> https://www.researchpad.co/article/elastic_article_7064 Background: Pituitary abscess (PA) is a rare but life-threatening cause of suprasellar (SS) lesion and pituitary hormonal deficiencies with an incidence of 0.2% - 1.1%. Clinical Case: A 65‐year woman with history of transient ischemic attacks, presented with double vision for 3 months (mon) and sudden onset, severe headache. She was diagnosed with cranial nerve (CN) VI palsy. MRI brain showed 1.7 cm SS mass suggestive of pituitary macroadenoma abutting optic chiasm. Visual field testing was unreliable due to underlying visual defects. She had progressive improvement in her diplopia. She was referred to Endocrinology for worsening fatigue. Physical exam was unremarkable. Pituitary hormonal work up showed secondary hypothyroidism with TSH 1.17 mIU/L (0.4-4.5), free T4 0.6 ng/dL (0.8-1.8); hypogonadotropic hypogonadism with FSH 12 mIU/ml (23-116.3), LH 1.7 mIU/ml (10-54.7), estradiol <15 (<31); elevated prolactin due to stalk affect with prolactin level of 83.3 ng/mL (3-30). She had normal IGF-1 of 154 ng/mL (41-279), ACTH 12 pg/mL (6-50), cortisol 14.1 mcg/dL (4-22) and mildly low sodium 134 mmol/L (135-146). Levothyroxine 50 mcg daily was started. The MRI brain at 2 mon and 6 mon follow up showed stable 1.8 cm peripherally enhancing SS mass. She was planned for elective pituitary adenoma resection but prior to that that was emergently admitted to ICU with high grade fever, confusion, seizures, severe hyponatremia with sodium of 122 mmol/L (135-146) and a concern for meningitis. She had a dental crown placed 3 weeks ago. MRI brain showed increase in size of the cystic component of SS mass. She was started on empiric IV antibiotics and high dose steroids. She underwent trans-sphenoidal surgery (TSS), and actually found to have a pituitary abscess. Gram stain of purulent material was positive for neutrophils. Pathology showed pituitary gland with focal infarct and surrounding acute on chronic inflammation and fibrosis. The intra-operative abscess cultures grew Cutibacterium (Proprionibacterium) acnes. She is planned to receive 6 weeks of IV antibiotics. Conclusion: We present a case of pituitary abscess presenting as a SS mass causing hypopituitarism. It was presumed pituitary macroadenoma due to the sub-acute onset and lack of progression. She developed acute deterioration in sensorium leading to concern for meningitis and PA requiring timely diagnosis and management with trans-sphenoidal resection and IV antibiotics. Definitive diagnosis of PA is usually made post-operatively. 60% of patients with PA and new onset hypopituitarism may require long term hormone replacement. References: 1. Agyei JO, Lipinski LJ, Leonardo J. Case Report of a Primary Pituitary Abscess and Systematic Literature Review of Pituitary Abscess with a Focus on Patient Outcomes. World Neurosurg. 2017 May;101:76-92

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<![CDATA[MON-253 A Rare Case of Pituitary Aspergillosis Diagnosed by CSF PCR in an Immunocompetent Patient with Headaches and Photophobia]]> https://www.researchpad.co/article/elastic_article_7003 Background: Pituitary aspergillosis is a rare infection usually found in the immunocompromised population. It is oftentimes mistaken for a pituitary adenoma based on similar clinical presentation and characteristic findings on MRI. Most cases require removal of the pituitary mass in order to make a diagnosis. Here we present the case of an immunocompetent patient with headaches and photophobia diagnosed with pituitary aspergillosis by CSF PCR and treated medically with voriconazole.

Clinical Case: A 40-year-old woman with a questionable history of Brucellosis presented with a 3 month history of headaches along with 2 days of nausea and vomiting. Vital signs were notable for intermittent hypotension but were otherwise within normal limits. Physical exam was notable for tenderness at the left temporal region, diaphoresis and photophobia. Patient was otherwise alert and oriented and had no visual field deficits or extraocular muscle dysfunction.

Patient was found to have central adrenal insufficiency with undetectable AM cortisol (<0.5 mcg/dL, n 3.7-19.4 mcg/dL), inappropriately normal ACTH (7 pg/mL, n 6-58 pg/mL) and central hypothyroidism with low TSH (0.057 mcIU/mL, n 0.358-3.8 mcIU/mL) and low free T4 (0.48 ng/dL, n 0.76-1.46 ng/dL). Patient initially presented with hyponatremia (Na 119 mmol/L, n 137-145 mmol/L) likely secondary to central adrenal insufficiency and central hypothyroidism. Gadolinium-enhanced pituitary MRI showed a heterogeneous 1.8 cm pituitary mass with rim enhancement concerning for hypophysitis.

Patient was started on stress-dose steroids with IV hydrocortisone 100 mg IV q8h, levothyroxine 50 mcg PO daily and empiric antibiotic therapy with ceftriaxone, doxycycline and rifampin due to suspicion for neurobrucellosis. Lumbar puncture was obtained showing low glucose (39 mg/dL, n 40-70 mg/dL), normal protein (47 mg/dL, n 12-60 mg/dL) and an elevated white count (WBC 9/mcL, n 0-5/mcL) with lymphocyte predominance (97% lymphocytes, n 40-80%). Blood and CSF cultures showed no growth at 2 weeks. CSF was sent for multiplex PCR which came back positive for Aspergillus.

Patient was discharged with voriconazole 300 mg PO BID for 1 year, levothyroxine 75 mcg PO daily and hydrocortisone 10 mg PO Qam and 5 mg PO Qpm. Three months later, repeat MRI showed resolution of the pituitary mass and patient felt well without headaches, nausea or vomiting.

Conclusion: This case demonstrates an atypical example of pituitary aspergillosis diagnosed without pituitary mass biopsy and treated medically with voriconazole. It demonstrates the possible role of CSF PCR to diagnose the condition and guide antifungal treatment.

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<![CDATA[MON-260 Sinonasal Papilloma Masquerading as a Pituitary Macroadenoma]]> https://www.researchpad.co/article/elastic_article_6398 Background: Sinonasal tumors are rare, with annual worldwide incidence of approximately 1 in 100,000, and are not commonly considered in the differential diagnosis of pituitary tumors (1). Sinonasal tumors are well known for their invasiveness, tendency to recur and association with malignancy. We present a case of sinonasal papilloma presenting as a large suprasellar mass.

Clinical Case: A 61 year-old male with a past medical history including type 2 diabetes mellitus presented with chief complaints of headaches and visual disturbances over the past 6 months. Prior to admission he experienced episodes of left eye midline deviation associated with diplopia. New onset dysphagia associated with leftward tongue deviation prompted him to seek medical attention. The social history was notable for chemical exposures in his work at a hair salon; he is sexually active with his husband. He has had no sexually transmitted infections and has been vaccinated against human papilloma virus (HPV). CT of the brain showed a large sellar mass.

A subsequent MRI of the pituitary demonstrated a large destructive mass centered on the clivus elevating the pituitary gland into the suprasellar cistern. The mass measured 6 cm x 4.5 cm in the axial plane with displacement without invasion of the cavernous sinuses. The mass extended anteriorly into the ethmoid sinuses and extended posteriorly into the prepontine cistern displacing the basilar artery.

Pituitary hormonal analysis included a 250 mcg Cosyntropin stimulation test resulting with a random cortisol of <1.0 ug/dl rising to 17.7 ug/dl following Cosyntropin administration. Additional anterior pituitary results included FSH of 3.8 mIU/ml (1.5-14 mIU/ml), LH of 1.3 mIU/ml (1.4-7.7 mIU/ml), total testosterone of 230 ng/dl (300-700 ng/dl), and prolactin 11.1 ng/ml (2.6-13 ng/ml).

Ophthalmology was consulted for visual field testing which proved normal, however a partial left cranial nerve VI palsy was noted likely secondary to cavernous sinus involvement. A biopsy of the sellar mass was obtained by bedside nasal endoscopy. The initial biopsy was consistent with a non-dysplastic, inverted sinonasal papilloma with negative HPV and P16 serologies. The patient underwent resection of the pituitary mass, with surgical pathology showing superficially invasive squamous cell carcinoma arising from sinonasal papilloma.

Conclusion: This is one of the very few cases reported in the literature of a sinonasal papilloma masquerading as a pituitary mass. Sinonasal papilloma should be considered when evaluating large destructive suprasellar tumors. Although a benign tumor, the local aggressiveness of sinonasal papilloma and the potential to give rise to squamous cell carcinoma highlights the significance of identifying this lesion.

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<![CDATA[MON-262 A Case of the Suprasellar Atypical Teratoid Rhabdoid Tumor (ATRT) Presenting in an Adult Treated with Intrathecal Chemotherapy]]> https://www.researchpad.co/article/elastic_article_6003 Background: Atypical teratoid rhabdoid tumors (ATRTs) are highly malignant tumors that usually present as a posterior fossa mass in children less than 3 years old. Only 38 cases have been reported in adults. They are also typically located in the supratentorial region. In none of the reported cases of suprasellar ATRT in the adult, intrathecal chemotherapy (via ommaya) has been used. Clinical case: A 70-year-old woman presented with a severe headache and magnetic resonance imaging (MRI) revealed a suprasellar mass measuring 2.9 x 2.1 x 3.0 cm. Shortly after her presentation, she developed an acute 3rd nerve palsy, and repeat MRI found dramatic interval growth. A transsphenoidal approach for biopsy/resection was attempted, but the lesion was not accessible via this corridor. She then underwent a right frontotemporal craniotomy and subsequently developed panhypopituitarism, including diabetes insipidus. Pathology revealed poorly differentiated malignant cells. Immunohistochemistry was positive for synaptophysin, Epithelial Membrane Antigen (EMA), Tumor protein p53, and negative for integrase interactor 1 (INI-1 antibody) with loss of expression in tumor nuclei with positive internal control in endothelial cells. These findings confirmed the diagnosis of ATRT. The Ki-67 index was 60% consistent with a highly proliferative tumor. One month later, she developed acute mental status change. Repeat computed tomography, and MRI showed recurrence of the tumor at the same location with new leptomeningeal enhancement involving the left facial nerve. Multimodal treatment was instituted, consisting of intraventricular/intrathecal chemotherapy with etoposide and topotecan plus fractionated external beam cranial irradiation (30 Gy in 10 fractions). She continued to deteriorate, and following consultation with her family, she was transferred to hospice care and died six months following her initial surgery. Conclusion: This is the first case of adult suprasellar ATRT that has been treated with intrathecal chemotherapy. There is no consensus on the best combination of chemotherapy, and often the St. Jude’s protocol used in the treatment of pediatric ATRT is used. In line with the biological behavior reported for this tumor in children and adults in different locations, the tumor was very aggressive, resulting in the patient’s death only after 6 months from the diagnosis despite aggressive surgical and medical treatment. Reference: 1. Athale, U. H., J. Duckworth, I. Odame, and R. Barr. 2009. Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta‐analysis of observational studies. J. Pediatr. Hematol. Oncol. 31:651-663. 2. Shonka N, Armstrong T (2011) Atypical teratoid/rhabdoid tumors in adults: A case report and treatment-focused review. J Clin Med Res 3: 85-92.

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<![CDATA[MON-258 Hyperprolactinemia: An Unusual Initial Presenting Manifestation of Multiple Sclerosis]]> https://www.researchpad.co/article/N3ab8a508-4e77-4cb3-a5d5-0e0c1894bf7f <![CDATA[MON-263 Renal Cell Cancer Metastasis to the Pituitary Masquerading as a Non-Functioning Adenoma]]> https://www.researchpad.co/article/N7dc6d109-0a27-4eed-8af2-9112a27f2641 <![CDATA[MON-264 Pleotropic Clinical Presentation in Two Brazilians Patients with Confirmed IgG4-Related Hypophysitis]]> https://www.researchpad.co/article/N21e7ffdc-f81e-4ea0-b67e-0f199f333327 <![CDATA[MON-255 Oral Contraceptive Pills Mask an Aggressive Crooke’s Cell Pituitary Adenoma]]> https://www.researchpad.co/article/Nbc9a320e-8dae-49e4-a339-b45e5dd86945 <![CDATA[MON-251 Xanthogranulomatous Hypophysitis: A Rare Case of Hypopoituitarism]]> https://www.researchpad.co/article/N671c9adc-d9cf-42ca-bb75-4cc6025f5058 <![CDATA[MON-254 Sympromic Hypogonadism: Co- Existence of Morsier and Klinefelter Syndromes]]> https://www.researchpad.co/article/N60c4170b-c851-4ac3-9c02-700d647b3129 <![CDATA[MON-252 Pituitary Tumor Apoplexy Presenting with Acute Psychosis]]> https://www.researchpad.co/article/N93520e3c-2be8-400f-b791-b992d3fd2a98

Abstract

Background: Pituitary tumors (PT) can present with neuropsychiatric symptoms. It has been associated with hormonal changes, as well as extension of the tumor to the diencephalon. Psychopathology has been reported in up to 83% in Cushing Disease (CD) and 35% in acromegaly (ACR). Psychiatric disorders (depression, anxiety and psychosis) have been reported up to 77% in CD and 63% in ACR. We present a rare case of a patient presenting with acute psychosis and a PT apoplexy. Case: A 27 year-old Caucasian female with a PMH of primary hypothyroidism presented with a 15-day history of delusions. She had delusional ideas on the subject of harm and prejudice, persecutory and mystical-religious. The mechanism was mainly intuitive and interpretive with false acknowledgments. She also had sleep disturbance, death ideation and subacute alteration of consciousness. There was no history of substance abuse or psychiatric disorders. She did not report headaches, visual disturbances, symptoms of hormone hypersecretion or hypopituitarism. She had regular menses on BCP. She had no family history of mental illnesses. Physical exam revealed reluctance, latency in responses and bradypsychia. She did not have acromegalic or cushingoid features. She was diagnosed with acute psychosis with atypical features so a brain CT was performed, which showed a sellar mass. Pituitary MRI revealed a sellar mass measuring 15x12x13 mm, with suprasellar extension, optic chiasm compression, hyperintense on T1- and hypointense on T2-weighted imaging compatible with subacute hemorrhage. She was treated with neuroleptics and benzodiazepines. Lab work revealed high prolactin (PRL) (114ng/dl), and normal 8 AM cortisol, FT4, LH, FSH and IGF-1 levels. Repeated PRL was 31,6 ng/dl after changing psychiatric treatment to aripiprazole. Her psychiatric symptoms improved. We postulate a diagnosis of PT apoplexy that presented with acute psychosis. In relation to the nature of the PT we postulate a non functioning pituitary adenoma (NFA) or a partial resolution of a prolactinoma after apoplexy. A follow up MRI is pending. Discussion: Infrequently, psychiatric symptoms may be the primary manifestation of brain tumors. Patients with PT have been reported to have altered quality of life, reduced coping strategies, increased prevalence of psychopathological alterations and maladaptive personality disorders. In addition, they can present with psychotic symptoms, mostly reported with hormone excess (GH and cortisol). Psychiatric symptoms such as anxiety and neurosis have been reported in NFA and prolactinomas. However, it is not clear a higher prevalence of psychiatric illnesses in these tumors. To our knowledge this is the first case of a pituitary tumor apoplexy presenting with acute psychosis. Conclusion: Psychiatric symptoms can be the first manifestation of PT, so atypical presentations should warrant further workup with brain imaging.

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