Thickening Of Pituitary Stalk Research Articles

MON-421 A Case of Central Diabetes Insipidus in a Patient with Myxopapillary Ependymoma and GFAP Paraneoplastic Autoimmune Meningoencephalomyelitis

Background: Glial fibrillary acidic protein (GFAP) specific IgG autoantibody has been identified as a potential biomarker of immunotherapy responsive, sometimes paraneoplastic autoimmune meningoencephalomyelitis. We present one of the first cases of central diabetes insipidus (DI) in a patient with myxopapillary ependymoma and related GFAP paraneoplastic autoimmune meningoencephalomyelitis. Clinical case: A 23 year old female presented with progressive left facial and right sided weakness, extremity parasthesias, diplopia and word finding difficulty over four months. MRI brain showed 3cm left frontal periventricular white matter lesion. Stereotatic brain biopsy revealed a demyelinating process. She was found to be GFAP IgG positive concerning for GFAP astrocytopathy and glucocorticoid treatment was initiated. Four months later, she developed new polydipsia (22L water/day) and polyuria with elevated sodium 151mmol/L, serum osmolality 329 mOsm/kg (normal range 285-310), low urine osmolality 122 mOsm/kg (normal range 300-900), dilute urine specific gravity 1.003 and documented urine output greater than 4L/24hrs. Clinical presentation was consistent with central DI as the patient had an appropriate response to DDAVP administration. MRI pituitary revealed absence of the posterior pituitary bright spot with increased fullness of the posterior aspect of the pituitary gland and prior evidence of pituitary stalk thickening, suggestive of lymphocytic infundibuloneurohypophysitis. Baseline anterior pituitary function remained intact. MRI spine obtained one month later for acute worsening lower extremity weakness, urinary retention and incontinence noted diffuse leptomeningeal enhancement, nodularity and an irregular L2/L3 mass-like lesion. Biopsy confirmed a WHO grade I myxopapillary ependymoma and chemotherapy was initiated. Conclusion: While the underlying etiologies can be identified in approximately 50-70% of central DI cases, the remaining are deemed idiopathic with speculation that autoimmunity involving autoantibodies may be involved. Lymphocytic infundibuloneurohypophysitis has been linked to central DI in several case reports, albeit few. Interestingly, although various autoimmune endocrinopathies have been noted in cases of GFAP autoimmune meningoencephalomyelitis, to our knowledge, this is the first case report of associated central DI.

MON-511 Erdheim-Chester Disease: A Challenging Diagnosis in a Patient with Ataxia, Osteosclerotic Bone Lesions, and a Long-Standing History of Central Diabetes Insipidus

Background: Erdheim- Chester Disease (ECD) is a rare hematopoietic neoplasm characterized by multi-organ infiltration with CD-68 -positive, CD1a-/S100-negative foamy histiocytes causing xantho-granulomatous inflammation. ECD most commonly involves the skeleton. CNS, pulmonary and CV involvement are also reported. Clinical Case: A 47-year-old male with a prior history of central Diabetes Insipidus (DI) presented with bone pain and ataxia. He was initially referred in 1993 for evaluation of DI. It was concluded that he had lymphocytic infundibulitis (LI), based on the finding of a thickened pituitary stalk on MRI while CSF revealed no evidence of infection or neoplasm. His DI was controlled with DDAVP. He had no other anterior pituitary hormone deficiencies. Although subsequent MRI showed resolution of the pituitary stalk thickening, his DI persisted. In 2012, he developed progressive gait instability, slurred speech and impaired motor coordination. On exam, he exhibited horizontal nystagmus, dysarthria, and truncal ataxia greater than limb ataxia. A brain MRI revealed absence of the posterior pituitary bright spot, enhancement along the proximal 7th and 8th nerve complex, disproportionate cerebellar atrophy and enhancement along the bilateral cerebellar folia. He complained of progressive, chronic leg pain since 2005. In 2018, he underwent tibial bone biopsy for an osteosclerotic lesion with diagnosis of Paget’s disease (PD). His Ca, Phos, 25OH- D, PTH, and Alk Phos were normal. Subsequent X-rays noted lesions of the pedicle of the left shoulder and pelvis, medullary sclerosis in the humeral diaphysis, and symmetrical lesions in the distal femur and tibia, bilaterally. Bone scan and FDG-Pet scan showed increased activity in the lesions. A repeat tibial biopsy revealed the marrow was infiltrated with histiocytes, fibrosis and sclerosis of trabecular bone. The histiocytes were highlighted by CD163, CD68, CD14, factor XIIIa and fascin A few scattered histiocytes were BRAF V600E immuno-stain positive, consistent with a diagnosis of ECD. His symptoms improved on Vemurafenib. Conclusion: We report a male with ECD who initially presented with isolated DI and a clinical course that mimicked LI. DI is a feature that occurs early in the disease process in 25% of patients. More than 10 years later, he developed ataxia and multifocal osteosclerotic bone lesions. His bone lesions were misdiagnosed as PD, but a repeat bone biopsy led to the correct diagnosis. In contrast to PD, the bone lesions in ECD are bilateral and symmetric and affect the diaphysis of long bones, specifically. As in our case, some patients with ECD can be asymptomatic for decades. For symptomatic patients who are BRAFV600E +, the B-Raf enzyme inhibitor, Vemurafenib, is recommended. His diagnosis was challenging, because ECD is rare (500 cases) and has features that overlap with other more common medical conditions.

Etiological Spectrum and Pattern of Change in Pituitary Stalk Thickening: Experience in 321 Patients.

To summarize the etiologies of pituitary stalk thickening (PST) and the natural course of indistinguishable PST. Clinical information, including the symptoms at onset and laboratory, imaging, operative, pathological, and follow-up data, of patients with MRI-confirmed PST at Peking Union Medical College Hospital from January 2014 to May 2017 was collected and reviewed. Of 321 eligible patients with PST, 28.3% were ≤18 years old. Central diabetes insipidus was the initial symptom in 68.8% of patients. At least one anterior pituitary hormone deficit was found in 57.6% of patients. The adjusted OR of panhypopituitarism associated with hypothalamus involvement was 7.3 (95% CI, 3.0 to 17.8; P < 0.001). Confirmed diagnoses were established in 137 patients (42.7%), including neoplasms (75.2%), inflammation (13.1%), and congenital anomalies (11.7%). Intracranial germ cell tumors (66.7%) were the leading cause among children, whereas histiocytoses (20.0%) and malignant metastases (14.7%) were the most common causes in adults. Thirty-eight patients with indistinguishable PST underwent a second MRI at a median time of 4.4 months. Spontaneous remission was observed in 17 of these patients (44.7%) after a median 8.5 months, with complete remission in 14 (36.8%) and partial remission in three (7.0%); five (13.2%) patients exhibited progression, and the remaining 16 (42.1%) stabilized. PST is highly heterogeneous, and most confirmed cases are attributed to neoplasms. The etiological spectrum varies with age. Physicians must be familiar with the major differential diagnoses, necessary investigations, and follow-up. Biopsy is indicated when radiological progression and/or worsening of pituitary function is detected.

The CT and MR imaging characteristics of juvenile xanthogranulomatosis in children

Objective To analyze the CT and MR imaging characteristics of the subcutaneous and organ lesions of uvenile xanthogranuloma (JXG) in children. Methods The CT and MR images of the head, chest, abdomen and subcutaneous soft tissue of 11 patients (6 females and 5 males, aged 2 months-12 years old, median age 8 months old) with JXG from 2006 to 2018 were collected and retrospectively analyzed. Eight patients underwent CT scan and/or contrast-enhanced CT scan, and 7 patients underwent MRI and/or MRI and contrast-enhancement MRI. Results In 11 cases of JXG, 5 cases were classified as simple skin type, involving the skin and deep soft tissue in the right posterior neck, the right frontal and parietal parts of the head, the nose root, and the fat layer and the deep muscle in the extremities. The lesions were the subcutaneous soft tissue nodules or mass showing isodensity on CT or high signal on T2WI. And the other 6 cases were classified as systemic type whose lesions involved one or more than one part except the skin. In the 6 cases, 3 cases involved the central nervous system, including the pituitary gland, cerebral hemisphere, cerebellum, brain stem, basal ganglia, thalamus, optic chiasma and spinal cord. The lesions of the pituitary gland were manifested as pituitary enlargement, thickening of the pituitary stalk, and disappearance of high signal on T1WI in the neurohypophysis. The brain parenchyma, the spinal cord and the optic chiasma showed multiple flake or nodular masses, which were iso/low signal on T1WI, low/high signal on T2WI, diffusion restricted, and enhanced markedly. Two cases involved lung tissue, and their lesions showed diffuse or scattered multiple cloudy shadow, reticular opacity, strip and small nodule shadow on chest CT. There was pleural effusion in one case. Two cases involved the livers and 2 cases involved the kidneys, showing multiple nodules with low signal on T2WI and slight enhancement. One case involving the pancreas showed a low density in the head of the pancreas and slight enhancement on CT. One case involving the greater omentum, chest wall and peritoneum showed thickening of the corresponding tissues on CT. Conclusions Subcutaneous and systemic lesions of JXG show some characteristics on CT and MRI images. The main manifestations are single or multiple nodulars, which are diffusely distributed and vary in size in subcutaneous soft tissue and various organs. The combination of imaging appearances, clinical manifestations and biopsy has important clinical significance for the correct diagnosis and evaluation of JXG. Key words: Granuloma; Tomography, X-ray computed; Magnetic resonance imaging

A RARE CASE OF ERDHEIM-CHESTER DISEASE MASQUERADING AS METASTATIC LUNG CANCER

SESSION TITLE: Lung Cancer 3 SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: 10/09/2018 01:15 PM - 02:15 PM INTRODUCTION: Erdheim-Chester Disease (ECD) is a non-Langerhans histiocytosis characterized by xanthomatous infiltration by CD68 positive, CD1a and S100 negative foamy histiocytes causing multi-system involvement. It was first identified in 1930, however, there have only been approximately 500 reported cases. Concomitant pituitary involvement, multiple axial skeletal lesions, and lung involvement is suggestive of ECD. Diagnosis typically involves histopathological studies in the appropriate clinical and radiological context. Here we present a case of ECD diagnosed during investigation of diabetes insipidus (DI) and a lung mass. CASE PRESENTATION: A 63-year-old female with a history of hyperlipidemia presented to the Endocrinology clinic for evaluation of polydipsia which was later diagnosed as DI. Extensive serum evaluation for etiology was unremarkable. MRI brain showed thickened infundibulum with increased enhancement suggestive of an inflammatory or infiltrative process. As part of her routine health maintenance, she had CTA coronaries done which showed a 2.1 cm spiculated left lung mass. Further investigations with repeat chest CT, PET scan and a bone scan confirmed malignant appearing left lung lesion along with body-wide skeletal lesions involving bilateral femurs, tibias, and left humerus, concerning for metastatic lung cancer. She underwent biopsy of the lung mass followed by lobectomy. Pathology findings were consistent with adenocarcinoma of the lung with immunostaining positive for TTF-1 and napsin-A. Subsequently, the patient underwent open biopsy of the left humeral lesion, which showed extensive fibrosis, focal lymphoplasmacytic infiltration, and scattered histiocytes. Immunostaining was negative for S100 and CD1a and positive for CD68. Pituitary involvement, DI, the presence of multiple skeletal lesions and staining profile is highly suggestive of ECD. Peripheral blood cytometry was positive for BRAF-V600 mutation. We are awaiting tissue studies for mutational analysis prior to treatment initiation. DISCUSSION: Patients with ECD are usually males of age 40-70 years; our patient had atypical features with female gender and late age of onset. DI associated with pituitary stalk thickening represents the most common neurological symptom, along with long bone involvement. Given the rarity of the disease, there are no clear guidelines regarding treatment approach; consensus guidelines recommend a treatment tailored for organ predominance and clinical severity to help facilitate treatment of “high risk” groups. CONCLUSIONS: Currently, the 5-year survival is less than 70%. However, the discovery of activating mutations of BRAF in 54% of the ECD patients has led to a modified therapeutic approach. A recent study suggests Vemurafenib (BRAF inhibitor) has prolonged efficacy in patients with BRAF V-600 mutant ECD and warrants consideration as the new standard of care for these patients. Reference #1: Cives, M., Simone, V., et.al. (2015). Erdheim–Chester disease: A systematic review. Retrieved March 03, 2018, from https://doi.org/10.1016/j.critrevonc.2015.02.004 Reference #2: Diamond, E. L., Subbiah, V., et.al. (2017). Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis: Analysis of Data From the Histology-Independent, Phase 2, Open-label VE-BASKET Study. Retrieved March 03, 2018, from https://www.ncbi.nlm.nih.gov/pubmed/29188284 DISCLOSURES: No relevant relationships by Nayla Ahmed, source=Web Response No relevant relationships by Ayushi Chauhan, source=Web Response No relevant relationships by Prashant Grover, source=Web Response No relevant relationships by Joerg Rathmann, source=Web Response No relevant relationships by Parin Shah, source=Web Response No relevant relationships by Aniket Sharma, source=Web Response No relevant relationships by John Thayer, source=Web Response

Magnetic Resonance Imaging Characteristics of Pituitary Abscess: A Review of 51 Cases.

To investigate pituitary abscess (PA) magnetic resonance imaging (MRI) features to improve the neuroradiologic and diagnostic knowledge of this rare disease and guide follow-up treatments. Clinical data were collected for 51 patients with PA, and MRI data were quantitatively reviewed in a retrospective analysis. Clinical factors were analyzed to investigate their relevance. PA neuroimaging showed special radiologic features, including hypointensity or isointensity on T1-weighted imaging (30 patients, 58.8%), isointensity or hyperintensity on T2-weighted imaging (39 patients, 76.5%), and disappearance of the posterior pituitary bright spot in most patients (44 patients, 86.3%). After gadolinium injection, rim or rimlike enhancement was observed in 82.4% of patients (n= 42). Half of those patients showed typical rim enhancement (profound peripheral enhancement with internal hypointensity); others showed atypical rim enhancement with special signs, such as enhanced, thick abscess wall and hyperintense flocculent or cottonlike foci within the internal hypointense region. Almost all patients (96.1%) presented at least 1 sign of adjacent anatomic structure invasion, including peripheral meninges enhancement, pituitary stalk thickening, and paranasal sinus mucosa enhancement. Rank correlation analysis of the clinical time course and MRI characteristics of PA showed a Spearman correlation coefficient of 0.270, indicating borderline significance (P= 0.055). Classic MRI characteristics of PA show T1 signal hypointensity or isointensity, T2 signal isointensity or hyperintensity, and peripheral rim enhancement after gadolinium injection. The MRI appearance of PA may reflect the abscess liquefaction and formation. Despite its profound significance for differential diagnosis, adjacent structure invasion is generally ignored by clinicians.

Difficulties in cerebrospinal fluid βhCG interpretation in a patient with an infundibular lesion.

SummaryA variety of neoplastic, inflammatory and congenital conditions can cause pituitary stalk thickening. Differentiating between these causes is important as targeted treatment may be offered. Diagnostic work-up consists of a thorough history, examination, biochemical analysis and imaging. We present the case of a 33-year-old male who presented with diabetes insipidus and had pituitary stalk thickening on magnetic resonance imaging. Further investigations revealed an elevated CSF βhCG, which raised the possibility of an intracranial germ cell tumor. However, when repeated on four different assays, the βhCG levels were discordant. On serial imaging, the pituitary stalk thickening reduced slightly, which would be unexpected for a germ cell tumor. This case raises the difficulties interpreting CSF βhCG, as not all immunoassays for βhCG have been validated for use in CSF. The Roche Diagnostics Elecsys and Siemens Centaur assays have been validated for CSF βhCG, and so we advocate using one of these methods. If unavailable or serum/CSF results are ambiguous, serial MRI is appropriate, with pituitary stalk biopsy considered if the stalk measures >6.5 mm or other imaging abnormalities are present.Learning points:Most adult patients with central diabetes insipidus have imaging abnormalities on a pituitary MRI. The most common abnormalities are loss of the posterior pituitary bright spot and pituitary stalk thickening, both of which are non-specific.Causes of pituitary stalk thickening include neoplastic, inflammatory, infective and congenital lesions.Investigation of pituitary stalk thickening should encompass the many possible causes and include biochemical analyses as well as imaging of the chest, abdomen and pelvis. Further investigations should be guided by the clinical context, but may include testicular ultrasound, CSF analysis and pituitary stalk biopsy.Germ cell tumors involving the pituitary stalk may be suspected on clinical grounds, but in the absence of a tissue diagnosis (biopsy) confirmation may be difficult and relies on biochemical assessment of blood and possibly CSF as well as serial MRI imaging.CSF βhCG levels should be analyzed on an instrument validated for use in CSF or on multiple instruments, and the pitfalls of testing this marker (false negative in some germ cell tumors, false positives in other conditions, lack of internationally agreed reference ranges for diagnosing germ cell tumors) should be considered when interpreting the results.

Clinical features and prognosis of 18 cases of primary lymphocytic hypophysitis

Objective: To analyze clinical features, prognosis and treatment of lymphocytic hypophysitis (LYH). Methods: The clinical data, treatments and outcomes of 18 cases diagnosed as LYH at Chinese PLA General Hospital between January 2001 and July 2017 was respectively reviewed. Results: Eighteen patients with histology-proven LYH (13 females and 5 males ) were identified. All lymphocytic adenohypophysitis (LAH) were females(n=6), two of whom were associated with pregnancy. Eleven patients (6 females and 5 males) had lymphocytic panhypophysitis (LPH) and one(female) had hypothalamitis. Pre-treatment evaluation revealed that 11 patients presented with symptoms of intracranial space-occupying lesions, 12 patients had symptoms of anterior pituitary hormone deficiencies, and 12 patients had central diabetes insipidus (CDI). All patients had space-occupying lesions on magnetic resonance imaging (MRI), which were symmetrically enlarged and homogenously enhanced with or without pituitary stalk thickening. Before or after surgery, 11 patients received immunosuppressant therapy or radiotherapy to alleviate space-occupying effect. After 4-204 months follow-up, 5 patients had a relapse and received immunosuppressants, radiotherapy or surgery to achieve remission. Full recovery (both symptomatic and radiographic) was seen in 6 patients, and 11 patients maintained stable replacement therapy. Conclusions: LYH presents with acute space-occupying effects such as headache, visual disturbances, hypopituitarism, CDI and mild hyperprolactinemia, especially with characteristic radiographic manifestations. Usually, surgery reliably establishes diagnosis, and immunosuppressant therapy is a necessity. On the whole, LYH has a good prognosis.

Joint approach based on clinical and imaging features to distinguish non-neoplastic from neoplastic pituitary stalk lesions.

PurposeDistinguishing non-neoplastic pituitary stalk lesions (non-NPSLs) from neoplastic pituitary stalk lesions (NPSLs) is a major concern in guiding treatment for a thickened pituitary stalk. Our study aimed to aid provide preoperative diagnostic assistance by combining clinical and magnetic resonance imaging (MRI) findings to distinguish non-NPSLs from NPSLs.Materials and methodsWe recruited 158 patients with thickened pituitary stalk lesions visible on MRI. Laboratory findings included hypopituitarism, diabetes insipidus (DI), and hyperprolactinemia. MR images were assessed for anterior–posterior thickness (mm), diffuse pituitary stalk thickening, cystic changes, a high T1 signal, and glandular or extrasellar involvement. A diagnostic model was developed using a recursive partitioning logistic regression analysis. The model was validated in an independent dataset comprising 63 patients, and its diagnostic performance was compared with that of the original radiological reports.ResultsA univariate analysis found significant associations of DI (P = 0.006), absence of extrasellar involvement (P = 0.002), and lower stalk thickness (P = 0.031) with non-NPSLs. A diagnostic model was created using the following parameters (in order of priority): 1) lack of extrasellar involvement, 2) stalk thickness < 5.3 mm, and 3) presence of DI. The diagnostic performance (area under the curve; AUC) of this model in the independent set was 0.813, representing a significant improvement over the original radiological reports (AUC: 0.713, P = 0.029).ConclusionThe joint diagnostic approach based on clinical and imaging-based factors robustly distinguished non-NPSLs from NPSLs. This approach could guide treatment strategies and prevent unnecessary surgery in patients with non-NPSL.

Polyuria: A Pathophysiologic Approach

A 22-year-old man presented with a 3-week history of increased thirst, polydipsia, and polyuria. He described consuming large volumes of water and waking up multiple times throughout the night to drink and urinate. He also endorsed symptoms of fatigue and frequent headaches. Prior to this, he had been well. There was no history of diuretic use, lithium use, or renal disease. There was no prior head trauma, cranial irradiation, or intracranial pathology. He denied consumption of nutritional or protein supplements. Clinical exam revealed a well appearing young man with normal heart rate and blood pressure. Visual fields and general neurologic exam were grossly normal.Baselines investigations revealed serum sodium ranging from 141–142 mmol/L (reference range 133–145 mmol/L), creatinine 92 umol/L (50–120 umol/L), random glucose 5.4 mmol/L (3.3–11.0 mmol/L), potassium 4.0 (3.3–5.1 mmol/L) and ionized calcium 1.25 mmol/L (1.15–1.35 mmol/L).A 24-hour urine collection was arranged, and returned a urine volume of 5.6L (normal less than 3 litres/24 hours). Further investigations revealed a serum sodium of 142 mmol/L, serum osmolality 306 mmol/kg (280–300 mmol/kg), and urine osmolality of 102 mmol/kg (50–1200 mmol/kg). AM cortisol was 372 nmol/L (200–690 nmol/L). These results demonstrated inability to concentrate the urine, despite the physiologic stimulus of hyperosmolarity. Based on this, a presumptive diagnosis of diabetes insipidus was made. The patient was instructed to drink as much as he needed to satiate his thirst, and to avoid fluid restriction. The patient was started on DDAVP intranasal spray, which provided immediate relief from his symptoms. Magnetic resonance imaging of the brain revealed an unremarkable pituitary gland with abnormal thickening of the pituitary stalk and loss of the posterior pituitary bright spot. This confirmed the diagnosis of central diabetes insipidus, presumed secondary to infiltrative disease affecting the pituitary stalk.

Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis.

Despite lymphocytic or autoimmune infundibuloneurohypophysitis (INH) is an increasingly recognized aetiology in children with central diabetes insipidus (CDI); clinical data on epidemiology (clinical evolution, predisposing factors, complications), diagnosis and management of this entity are limited and mostly based on published case reports. The aim of this study was to gain a broader insight in the natural history of this disease by analysing the clinical presentation, radiological pituitary stalk changes, associated autoimmunity and hormonal deficiencies in children with CDI and a self-limiting or transient stalk thickening (ST), diagnosed as autoimmune infundibuloneurohypophysitis, during the last 15years in four Belgian university hospitals. The medical files of nine CDI patients with a ST at initial presentation and no signs of Langerhans cell histiocytosis or germinoma at presentation and/or during follow-up of more than 1.5years were reviewed. Age at presentation ranged from 3 to 14years. Two patients had a positive family history of autoimmunity. Three children presented with associated growth failure, two with nausea and one with long-standing headache. Median maximal diameter of the stalk was 4.6mm (2.7-10mm). Four patients had extra-pituitary brain anomalies, such as cysts. One patient had central hypothyroidism, and another had a partial growth hormone deficiency at diagnosis. Within a mean follow-up of 5.4 (1.5-15) years, stalk thickening remained unchanged in two patients, regressed in one and normalized in six children. CDI remained in all, while additional pituitary hormone deficiencies developed in only one patient. In this series of children INH with CDI as initial presentation, CDI was permanent and infrequently associated with anterior pituitary hormone deficiencies, despite a frequent association with nonstalk cerebral lesions.

Clinical features of patients with pituitary stalk thickening: a review of 159 cases from one medical center

BackgroundPituitary stalk thickening (PST) used as an imaging diagnosis plays a major role in diagnosis and treatment of the hypothalamus and pituitary disease at an early stage. Up until now, several lines of systematic investigations have been conducted among adolescents, and the results indicated that PST is possibly one of the principal early manifestations of sellar region tumor. To characterize the major clinical features of PST and to identify the most effective treatments we conducted this study.MethodsThis was a retrospective review of patients with PST evaluated at Huashan Hospital over an eight-year period between 2007 and 2014. One hundred fifty nine patients who were diagnosed PST were included. The data including demographics, clinical presentations, imaging examinations, laboratory results and surgery were thoroughly reviewed and carefully analyzed. According to their clinical presentations and examinations, relevant treatments were adopted and different prognosis were observed.ResultsOf the 159 patients, 57 were males and 102 were females (median age was 29 and 43.4% were under the age of 21 years). And of the patients in the age group between 30 and 35 years, 84% were females. “Polydipsia and polyuria” was the most common clinical manifestation observed in 90 cases (>50%). 49.5% of the patients were diagnosed to have at least one anterior pituitary dysfunction. The sellar region MRI (SR-MRI) data showed that patients who had different clinical presentations or pituitary function showed different SR-MRI appearance. Over 60% patients who performed follow-up MRI showed shrunken PST. Fourteen cases who received radiotherapy appeared to be improved as shown by MRI.ConclusionsPST is most commonly seen in the teenagers and the women of reproductive age. Distinct etiology may be identified based on the clinical manifestations, age and SR-MRI, which would help to make the final decision for treatments. Radiotherapy and immuno-suppressed therapy are effective in alleviating clinical symptoms and shrinking the stalk thickening.

Pituitary Stalk Thickening

Abstract: MRI revealed enlargement of the pituitary stalk in two patients with different clinical presentations. A 60 y/o female had autoimmune hypothyroidism associated with blunted cortisol response to ACTH, while the other, a 30 y/o female had amenorrhea and polyuria with high plasma and low urinary osmolality. Keywords: Pituitary stalk thickening; Hypothyroidism; Adrenal insufficiency; Amenorrhea; Polyuria Case Report: As a result of the advances in imaging technologies, the finding of pituitary stalk lesions presents a diagnostic challenge to clinicians and endocrinologists. They are usually discovered incidentally on magnetic resonance imaging (MRI), or during the investigation of symptoms related to hypothalamic-pituitary dysfunction such as central diabetes insipidus or hypopituitarism. The etiology of these lesions may be congenital/developmental, inflammatory, infectious or neoplastic. Due to its particular location and function, the pituitary stalk is not often biopsied and diagnosis is based generally on clinical evaluation and images Report of two cases Enlargement of the pituitary stalk was found during the endocrine evaluation of two patients with the following clinical presentations. Patient 1: A 64 year old woman was admitted to the emergency room for vomiting and high blood pressure. Otherwise normal, she had been suffering from proximal muscle weakness, fatigue, reduced appetite, cognitive impairment and pre-tibial myxedema during the last two months. The patient denied glucocorticoid intake. Mild hyponatremia (132 mEq/l) and anemia (hct: 30%) were detected. TSH was high (13.74 µU/ml) with low FT4: 0.57ng/dl. Anti-peroxidase antibodies were positive. Serum potassium was normal (4.2 mEq/l). Serum morning cortisol was less than 1.0 µg/dl and ACTH was 6.7 pg/ml and 5.0 pg/ ml in two different occasions. An ACTH stimulating test (Synacthen 250.0 µg, i.m) showed a blunted cortisol response at 30 and 60 min after stimulus, confirming adrenal insufficiency. The remaining pituitary function was normal. MRI showed a thickened pituitary stalk (Figure 1). The patient improved on hydrocortisone and LT4. Patient 2: A 30 year old woman complained of amenorrhea and polyuria (9 L/day). She had high plasma and low urinary osmolality (311 mOsm/kg and 136 mOsm/kg, respectively). Low serum estradiol and gonadotropins were found. Thyroid and adrenal functions were normal. MRI showed a thickened pituitary stalk (Figure 2). She started on desmopressin (0.1 mg/day) which reduced daily diuresis by 60% and lowered plasma osmolality (290 mOsm/day). Additionally she began on estrogen and progestin replacement. Discussion: Pituitary stalk lesions may be found by chance or during the evaluation of endocrine disorders. In a series of 152 patients, the etiologies were attributed to neoplasia in 32%, inflammatory lesions 20%, and congenital anomalies in 9% and in 39% remained unknown [2]. Primary hypophysitis is rare, between 0.2 and 6.5% among pituitary pathologies. Three histopathological types are described in this category: lymphocytic, granulomatous and xanthomatous hypophysitis [3].These conditions are usually confined to the pituitary. In secondary hypophysitis, a systemic disease is the cause of the pituitary lesion: Sarcoidosis, Wegener granulomatosis, Langerhans cell histyocitosis and IgG4 related plasmatic histiocytosis may affect the pituitary. Monoclonal antibodies against the cytotoxic T-lymphocyte antigen-4 (CTLA-4) for treating metastatic cancer, may induce hypophysitis [4,5]. In the setting of immunosuppression, fungal infection, tuberculosis and toxoplasmosis may involve the pituitary gland [4]. Interestingly, these two patients showed different clinical presentations. After excluding secondary etiologies, primary hypophysitis was suspected in both [4]. Although histological confirmation is needed, biopsy of a pituitary stalk lesion is technically demanding, and must be performed by an experienced neurosurgeon. In order to avoid invasive procedures, the approach was based on clinical, biochemical and radiological features. A close follow-up is mandatory to detect new symptoms and to determine if the lesions progress over time.

Incidence of Central Diabetes Insipidus in Children Presenting with Polydipsia and Polyuria

Polydipsia and polyuria are common reasons for referral to the Pediatric Endocrine clinic. In the absence of hyperglycemia, diabetes insipidus (DI) should be considered. The objectives of the study were to determine the prevalence of central DI (CDI) in a group of children presenting for evaluation of polydipsia and polyuria, and to determine if predictive features were present in patients in whom the diagnosis of DI was made. The study was a retrospective chart review of children presenting to the endocrine clinic with complaints of polydipsia and polyuria over a 5-year period. The charts of 41 patients (mean age 4.9 ± 3.7 years, 28 males) were reviewed. CDI was diagnosed in 8 (20%) children based on abnormal water deprivation test (WDT) results. All but one patient had abnormal magnetic resonance imaging (MRI) findings, the most common being pituitary stalk thickening. Children with DI were older (7.86 ± 4.40 vs. 4.18 ± 3.20 years, P = .01) and had a higher propensity for cold beverages intake and unusual water-seeking behaviors compared to those without DI. Baseline WDT also revealed higher serum sodium (Na) and osmolality. The incidence of CDI in children presenting with polydipsia and polyuria is low. Factors associated with higher likelihood of pathology include older age, propensity for cold beverage intake, and higher baseline serum Na and osmolality on a WDT. BMI = body mass index CDI = central diabetes insipidus DI = diabetes insipidus Na = sodium WDT = water deprivation test.

Pituitary stalk thickening: use of an innovative MRI analysis to guide clinical management

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Actualités autour de la prise en charge des diabètes insipides centraux: Management of central diabetes insipidus in 2016

Diabetes insipidus is a syndrome that associates both hypotonic polyuria and polydipsia, due to insufficient or ineffective arginine vasopressin (AVP) synthesis, or to AVP resistance.The diagnosis between central/renal origin, or an abnormal thirst regulation (primary polydipsia) is required to organize an adapted management. Because water deprivation tests are not reliable, it’s often based on medical history, response to treatment and MRI. Copeptin is an AVP precursor which could be very helpful for the diagnosis. Its basal dosage may identify nephrogenic DI whereas osmotic stimulated dosage would discriminate central DI and primary polydipsia.Central DI is quite frequent after pituitary surgeries or traumatic brain injuries, and often transient. In case of early diagnosis and familial history of DI, a mutation of AVP gene is suspected, most of the time autosomal dominant. MRI is required to identify the other causes, i.e. tumors and inflammatory diseases (sarcoidosis, histiocytosis, hypophysitis). An advanced evaluation is required before idiopathic DI be retained, especially if a thickening of pituitary stalk is observed.The treatment of central DI is mainly based on lyophilisate of desmopressin administration.

Pituitary stalk thickening: the role of an innovative MRI imaging analysis which may assist in determining clinical management.

Disease processes that affect the pituitary stalk are broad; the diagnosis and management of these lesions remains unclear. The aim was to assess the clinical, biochemical and histopathological characteristics of pituitary stalk lesions and their association with specific MRI features in order to provide diagnostic and prognostic guidance. Retrospective observational study of 36 patients (mean age 37years, range: 4-83) with pituitary stalk thickening evaluated at a university hospital in Oxford, UK, 2007-2015. We reviewed morphology, signal intensity, enhancement and texture appearance at MRI (evaluated with the ImageJ programme), along with clinical, biochemical, histopathological and long-term follow-up data. Diagnosis was considered certain for 22 patients: 46% neoplastic, 32% inflammatory and 22% congenital lesions. In the remaining 14 patients, a diagnosis of a non-neoplastic disorder was assumed on the basis of long-term follow-up (mean 41.3months, range: 12-84). Diabetes insipidus and headache were common features in 47 and 42% at presentation, with secondary hypogonadism the most frequent anterior pituitary defect. Neoplasia was suggested on size criteria or progression with 30% sensitivity. However, textural analysis of MRI scans revealed a significant correlation between the tumour pathology and pituitary stalk heterogeneity in pre- and post-gadolinium T1-weighted images (sensitivity: 88.9%, specificity: 91.7%). New techniques of MRI imaging analysis may identify clinically significant neoplastic lesions, thus directing future therapy. We propose possible textural heterogeneity criteria of the pituitary stalk on pre- and post-gadolinium T1 images with the aim of differentiating between neoplastic and non-neoplastic lesions with a high degree of accuracy.

Pituitary stalk thickening on MRI: when is the best time to re-scan and how long should we continue re-scanning for?

Magnetic resonance imaging (MRI) has proved to be an essential tool in the assessment of pituitary stalk lesions including lymphocytic infundibulo-hypophysitis, Langerhans cell histiocytosis (LCH), germ cell tumours, nongerminomatous germ cell tumours, pituicytomas and other tumours, metastases from lymphoma or breast cancer, Wegener's hypophysitis, neurosarcoidosis and inflammatory infiltrations by infectious diseases. The diagnosis of lesions determining pituitary stalk thickness is challenging, and the identification of the underlying condition may require a long-term follow-up. Thus, clinicians should readily recognize that, when the diagnosis of central diabetes insipidus has been established, specific MRI sequences should be used in the assessment of the hypothalamic-pituitary region, and whole-brain evaluation is recommended. For clinical practice, a timely diagnosis is advisable to avoid central nervous system damage, pituitary defects and the risk of dissemination of germ cell tumours or organ involvement by LCH. Proper aetiological diagnosis can be achieved via a series of steps that start with careful observation of several neuroimaging predictors and endocrine dysfunction and then progress to more sophisticated and advanced imaging techniques.

MRI manifestation of xanthomatous hypophysitis: a case report and review of the literature.

The inflammatory lesion of the pituitary gland is unusual. A 33-year-old woman with headache, visual impairment, and menelipsis was admitted to the Second Xiangya Hospital, Central South University. The results of magnetic resonance imaging (MRI) for pituitary gland showed a sellar mass with iso-intensity on T1 weighted imaging and high signal on T2 weighted imaging. The homogeneous lesion was enhanced on contrast MRI. The pituitary stalk was thickened accompanied by the cavernous sinus invasion, which showed a "triangle" saddle occupation on the MRI coronal plane. An endocrinological examination revealed mild hypocortisolism. Th e patient was diagnosed as pituitary adenoma based on the MRI findings and endocrinological examination. Trans-sphenoidal surgery was performed. The intra-operative histological examination also suggested a pituitary adenoma. Th e histopathological examination showed accumulation of foamy cells and xanthomatous epithelioid cells, supporting the diagnosis of xanthomatous hypophysitis. Xanthomatous hypophysitis possesses certain MRI features. Th e most typical imaging features are the thickening of the pituitary stalk and the sign of "triangle" occupation on MRI coronal plane, which are very helpful to the correct diagnosis and optimal management.

The Thickening of the Pituitary Stalk: about 25 Cases

Summary This is a retrospective study of 25cases of thickening of pituitary stalk. All patients benefited from a clinical, biological (hormonal and non hormonal) and radiological exploration seeking etiology and scalability of their pathologies. Results A female predominance was found. The average is 42 years (4.5 to 60). Three children were observed in this series. Methods The most frequent reason for consultation was polyuria polydipsia syndrome (90%); It was associated with an amenorrhea galactorrhea syndrome in a little over two-thirds (63.2%) and epilepsy in one case. Questioning revealed the former existence of extra-pituitary sarcoidosis in five cases. The hormonal exploration showed a post pituitary insufficiency in all cases; A central diabetes insipidus (CDI) is observed in three pediatric cases. It was associated with hypopituitarism in 87,5% (n: 21/24) of cases: anterior pituitary Insufficiency (n: 10/24) thyreo-gonadotrope insufficiency (n: 11/24). Moderate hyperprolactinemia was observed in two thirds of cases (68, 4%). CDI is observed in three pediatric cases. The etiological exploration of the thickening of the pituitary stalk allowed to retain the following diagnoses: sarcoidosis 66,6% (n: 16/24)-lymphocytic hypophysitis 12,5% (n: 3/24 ) metastase cancer 12,5% (n: 3/24): vesicular thyroid carcinoma n: 1, breast cancer n: 2; cyst ratke 4.16% ( n: 1/24) « idiopathic » 8.3% (n: 2/24). The cyst of ratkes and idiopathic forms were found in children. The evolution was marked in a child by the appearance of an autoimmune thyroiditis suggest the possible diagnosis of an autoimmune origin to the thickening of the pituitary stalk. No cause has been identified in the other case after a decline of ten years.