scholarly journals Neuroinfundibulitis: Pituitary Stalk Thickening Presenting as Diabetes Insipidus

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A593-A593
Author(s):  
Payal P Patel ◽  
Susan Leanne Samson ◽  
Sarika Rao
Keyword(s):  
Diabetes Insipidus ◽  
Hormone Replacement ◽  
Treatment Options ◽  
Head Injuries ◽  
Urine Osmolality ◽  
Pituitary Stalk ◽  
Bright Spot ◽  
Thyroid Function Tests ◽  
Normal Thyroid Function ◽  
Pituitary Stalk Thickening

Abstract Background: Isolated pituitary stalk thickening (PST) from neuroinfundibulitis is a rare entity that requires thorough evaluation of secondary causes and understanding of treatment options. Clinical Case: A 55-year-old male presented with progressive polyuria and polydipsia over several months. He had no significant head injuries, headache, weight loss, fatigue or inability to exercise. His serum sodium level was 148 (135 - 145 mmol/L) with a serum osmolality 310 (275-305 mOsm/kg), and urine osmolality was 246 (40-1200 mOsm/kg) suggestive of partial diabetes insipidus (DI). A 24-hour urine collection had a volume of 9.2 liters. He had a normal hemoglobin A1c. Hormonal work-up was unremarkable with normal range his prolactin, IGF-1, and a.m. cortisol (19 mcg/dl). He was already on levothyroxine with normal thyroid function tests and negative thyroid antibodies. Water deprivation testing confirmed a diagnosis of central DI and he was started on desmopressin. Magnetic resonance imaging (MRI) of the pituitary demonstrated diffuse PST with T2 hyperintensity and loss of normal T1 hyperintensity (“bright spot”) of the posterior pituitary. Repeat imaging 3 months later showed progressive thickening. He underwent full body positron emission tomography-computerized tomography (PET-CT) which demonstrated increased metabolism of the pituitary stalk, but no other suspicious uptake in other areas. Chest X-ray, tuberculin screen, angiotensin converting enzyme, and calcium were all normal. Patient underwent transsphenoidal stalk biopsy. Pathology demonstrated fibrosis and chronic inflammation without malignancy but otherwise was nondiagnostic. Based on these findings, he was presumed to have neuroinfundibulitis and is being actively followed with MRIs and labs. Conclusion: Isolated PST is exceedingly rare, especially in adults. The differential diagnosis includes neoplastic (germinomas, lymphoma, metastatic disease), autoimmune, and infiltrative disease (sarcoidosis, histiocytosis). One review of 38 adult patients with central DI and PST showed that almost half had neuroinfundibulitis. Of those, 4 were treated with corticosteroids and 7 were not. All patients showed reduction or resolution of PST on subsequent MRIs indicating that resolution of thickening can be spontaneous without steroid use, and can be followed by MRI and with hormone replacement for deficiencies (1). Because of the rarity of isolated neuroinfundibulitis, it is important that neoplastic and systemic diseases be ruled out in all patients with PST, as in the case of our patient. 1.Devuyst F, Kazakou P, Baleriaux D, Alexopoulou O, Burniat A, Salenave S, et al. Central diabetes insipidus and pituitary stalk thickening in adults: distinction of neoplastic from non-neoplastic lesions. European Journal of Endocrinology. 2020;183(1):95-105.

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

2018 ◽  
Vol 2018 ◽  
Author(s):  
Alicia R Jones ◽  
Alan McNeil ◽  
Christopher Yates ◽  
Bala Krishnamurthy ◽  
Peter S Hamblin
Keyword(s):  
Germ Cell ◽  
Diabetes Insipidus ◽  
Germ Cell Tumor ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Pituitary Stalk ◽  
Bright Spot ◽  
List Type ◽  
Pituitary Stalk Thickening ◽  
Serial Mri

Summary A 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.

scholarly journals SUN-282 Transient Infundibulohypophysitis in a Child with Central Diabetes Insipidus

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Shabana Kalladi Puthanpurayil ◽  
Ahsan Uddin ◽  
Peter Matthew Gerrits
Keyword(s):  
Diabetes Insipidus ◽  
Anterior Pituitary ◽  
Elevated Serum ◽  
Central Diabetes Insipidus ◽  
Pituitary Stalk ◽  
Bright Spot ◽  
Neoplastic Process ◽  
Anterior Pituitary Function ◽  
History Of ◽  
Pituitary Stalk Thickening

Abstract Case Description A 7-year-old previously healthy female presented with a 1-month history of tiredness, excessive thirst and increased urinary frequency. Initial studies showed an elevated serum osmolality with relatively dilute urine. She underwent a water deprivation study which confirmed central diabetes insipidus (CDI). An MRI of the brain was obtained which showed markedly thickened and homogeneously enhancing pituitary stalk thickening (17mm craniocaudal x10 mm anteroposterior diameter). Workup did not reveal any signs suggestive of Langerhan’s cell histiocytosis; a skin biopsy and bone survey were normal. A pituitary stalk biopsy was scheduled, however direct endoscopic visualization of the pituitary stalk was normal, so the procedure was aborted. A repeat MRI 7 weeks later showed complete resolution of the stalk thickening. An MRI done 4 months later again showed normal anterior pituitary and normal pituitary stalk, with persistent absent posterior bright spot. She remains on desmopressin, and anterior pituitary functions have been normal to date. Discussion CDI in children can be due to infectious, neoplastic, traumatic or genetic processes that disrupt the hypothalamus or pituitary stalk. One third of children with CDI present with pituitary stalk thickening (PST) on initial evaluation with MRI. There are wide variations in the degree of PST. Previous studies have shown that the degree of PST is different depending on the underlying etiology. Furthermore, regression of PST has been observed in many cases of CDI with PST which has been attributed to idiopathic or autoimmune process (infundibulohypophysitis). Most studies have demonstrated that PST > 4 mm is unlikely to regress and may be more likely to progress with eventual diagnosis of a neoplastic process such as germinoma or Langerhan’s cell histiocytosis. Based on review of the literature, the earliest resolution of PST was in 3 months in a patient who received steroid therapy at diagnosis. [1] Conclusion Our case illustrates that in children with central diabetes insipidus, isolated pituitary stalk thickening may resolve in as short a period as 7 weeks. While ongoing evaluation is warranted with serial pituitary imaging, unnecessary invasive procedures may be avoided in patients without evidence of other underlying anatomic pathology. Anterior pituitary function requires initial and continued surveillance. References 1. Shaefers J et al. Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis. Clin Endocrinol (Oxf). 2017 Aug;87(2):171-176. doi: 10.1111/cen.13362. Epub 2017 Jun 5.

Polyuria: A Pathophysiologic Approach

2017 ◽  
Vol 12 (2) ◽  
Author(s):  
Kirstie Lithgow ◽  
Bernard Corenblum
Keyword(s):  
Diabetes Insipidus ◽  
Serum Sodium ◽  
Visual Fields ◽  
Urine Volume ◽  
Urine Osmolality ◽  
Pituitary Stalk ◽  
Bright Spot ◽  
Fluid Restriction ◽  
Presumptive Diagnosis ◽  
History Of

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.

scholarly journals Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Michael S. Gordon ◽  
Murray B. Gordon
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Hypogonadotropic Hypogonadism ◽  
Langerhans Cell ◽  
Pituitary Stalk ◽  
Bright Spot ◽  
Molecular Testing ◽  
Papillary Thyroid

Etiologies of a thickened stalk include inflammatory, neoplastic, and idiopathic origins, and the underlying diagnosis may remain occult. We report a patient with a thickened pituitary stalk (TPS) and papillary thyroid carcinoma (PTC) whose diagnosis remained obscure until a skin lesion appeared. The patient presented with PTC, status postthyroidectomy, and I131therapy. PTC molecular testing revealed BRAF mutant (V600E, GTC>GAG). She had a 5-year history of polyuria/polydipsia. Overnight dehydration study confirmed diabetes insipidus (DI). MRI revealed TPS with loss of the posterior pituitary bright spot. Evaluation showed hypogonadotropic hypogonadism and low IGF-1. Chest X-ray and ACE levels were normal. Radiographs to evaluate for extrapituitary sites of Langerhans Cell Histiocytosis (LCH) were unremarkable. Germinoma studies were negative: normal serum and CSF beta-hCG, alpha-fetoprotein, and CEA. Three years later, the patient developed vulvar labial lesions followed by inguinal region skin lesions, biopsy of which revealed LCH. Reanalysis of thyroid pathology was consistent with concurrent LCH, PTC, and Hashimoto’s thyroiditis within the thyroid. This case illustrates that one must be vigilant for extrapituitary manifestations of systemic diseases to diagnose the etiology of TPS. An activating mutation of the protooncogene BRAF is a potential unifying etiology of both PTC and LCH.

scholarly journals SAT-241 Pituitary Stalk Interruption Syndrome Presenting as Neonatal Hypotonia

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Nordie Anne Bilbao
Keyword(s):  
Pituitary Gland ◽  
Neonatal Period ◽  
Hormone Replacement ◽  
Brain Mri ◽  
Rare Condition ◽  
Pituitary Stalk ◽  
Pituitary Hormone ◽  
Thyroid Function Tests ◽  
Acth Stimulation ◽  
Central Hypothyroidism

Abstract Pituitary stalk interruption syndrome (PSIS) is a rare condition that include congenital anatomic abnormalities of the pituitary gland and hypopituitarism. There is a wide variety of clinical presentation, with the age at presentation encompassing from neonatal period to adulthood and including one or more pituitary hormone deficiencies. In recent literature there is increasing recognition of PSIS presenting in the neonatal period, mostly involving hypoglycemia. Our patient is a full-term male infant who presented in the newborn period with hypotonia and hypothermia. He also had hypoglycemia, which was initially thought to be associated to hyperinsulinism in the context of gestational diabetes. Micropenis was noted on physical exam. As part of the study for hypotonia, serial thyroid function tests were obtained revealing central hypothyroidism. A low dose ACTH stimulation test was performed which revealed adrenal insufficiency. The patient was started on cortisol and thyroid hormone replacement. Brain MRI showed an ectopic neurohypophysis located along the floor of the hypothalamus, a small anterior pituitary gland, and a partially absent infundibulum, findings consistent with pituitary stalk interruption syndrome. The patient received testosterone injections for micropenis and is being followed for development of other pituitary hormone deficiencies. PSIS is a rare congenital condition that is increasingly recognized in neonates manifesting with signs of hypopituitarism.

scholarly journals Central Diabetes Insipidus as the Inaugural Manifestation of Langerhans Cell Histiocytosis: Natural History and Medical Evaluation of 26 Children and Adolescents

2011 ◽  
Vol 96 (9) ◽  
pp. E1352-E1360 ◽  
Author(s):  
Isis Marchand ◽  
Mohamed Aziz Barkaoui ◽  
Catherine Garel ◽  
Michel Polak ◽  
Jean Donadieu ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Third Ventricle ◽  
Langerhans Cell ◽  
Central Diabetes Insipidus ◽  
Pituitary Stalk ◽  
The Third ◽  
Mri Features ◽  
Pituitary Stalk Thickening

Abstract Context: Isolated central diabetes insipidus (CDI) can be the first manifestation of Langerhans cell histiocytosis (LCH), creating diagnostic dilemmas such as dysgerminoma and other inflammatory lesions. Method: In 2010, the French national LCH registry had enrolled 1236 LCH patients under 18 yr of age. Isolated CDI was the initial presentation of LCH in 26 patients. We reviewed their clinical and magnetic resonance imaging (MRI) features. Results: Median age at the diagnosis of CDI was 9.6 yr (1.8–16.3), and median follow-up after CDI diagnosis was 9.9 yr (3.5–26.6). In addition to CDI, two patients had visual field defects, four had secondary amenorrhea, and 11 had anterior pituitary deficiency. Cerebral imaging (including computed tomography in two cases), performed in 22 patients within 3 months of CDI diagnosis, showed pituitary stalk thickening in 14 patients, which was moderate (3.0–7 mm) in nine cases and marked (>7 mm) in five cases. In eight cases, the lesion extended to the floor of the third ventricle. One child with LCH presented with a mild enlarged sellar content. During follow-up, 22 patients developed extrapituitary involvement, mainly of bone (n = 15), lung (n = 9), and skin (n = 9). Pituitary biopsy was performed in eight cases and was conclusive in six cases. Conclusions: Pituitary stalk thickening can be observed in LCH as well as lesions extending to the floor of the third ventricle. In all cases but one, the intrasellar content was not enlarged. Long-term follow-up with close attention to bone, skin, and lung disorders may lead to the diagnosis of LCH.

Two unusual causes of pituitary stalk thickening in children without clinical features of diabetes insipidus

2003 ◽  
Vol 33 (7) ◽  
pp. 499-502 ◽  
Author(s):  
Savvas Andronikou ◽  
Gisella Furlan ◽  
Anthony G. Fieggen ◽  
Jo Wilmshurst
Keyword(s):  
Diabetes Insipidus ◽  
Clinical Features ◽  
Pituitary Stalk ◽  
Pituitary Stalk Thickening

scholarly journals Central diabetes insipidus and pituitary stalk thickening in adults: distinction of neoplastic from non-neoplastic lesions

2020 ◽  
Vol 183 (1) ◽  
pp. 95-105
Author(s):  
France Devuyst ◽  
Paraskevi Kazakou ◽  
Danielle Balériaux ◽  
Orsalia Alexopoulou ◽  
Agnès Burniat ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Prolactin Level ◽  
Anterior Pituitary ◽  
Male Gender ◽  
Adult Patients ◽  
Pituitary Stalk ◽  
Serum Prolactin ◽  
Serum Prolactin Level ◽  
Neoplastic Lesions ◽  
Pituitary Stalk Thickening

Context Association of central diabetes insipidus (CDI) and pituitary stalk thickening (PST) may have several etiologies (including malignancies) and differential diagnosis remains often difficult. Objective The purpose of this study was to identify which clinical, biochemical or radiological features could help clinicians to make an etiological diagnosis, especially distinguishing neoplastic from non-neoplastic pituitary stalk lesions. Design and methods We retrospectively analyzed clinical, biochemical, radiological and histological data of 38 adult patients diagnosed with CDI and PST of proven etiology. Results Of the 38 pituitary stalk lesions included, 11 (29%) were neoplastic. A histopathological diagnosis was obtained in 22/38 (58%) patients. The three most frequently observed etiologies of PST were neuroinfundibulitis (34%), germinoma (21%) and histiocytosis (18%). Pituitary stalk thickness was larger for neoplastic lesions, particularly germinomas. Male gender and a very young age were statistically associated with a risk of germinoma. At least one anterior pituitary deficit was observed in nearly 60% of patients. Patients with neoplastic PST were more affected by multiple anterior pituitary dysfunction than patients with benign PST. A high serum prolactin level was individually the best predictor of a neoplastic origin (90% sensitivity and 60% specificity for a serum prolactin level 1.27-fold above the normal upper limit (ULN)). Conclusion We confirm a relatively high risk of malignancy in adult patients presenting with the association of CDI and PST. Young age, male gender, a very large thickening of the stalk, multiple anterior pituitary deficits and prolactin above 1.3× ULN increase the likelihood of a neoplastic origin.

Sign in / Sign up

Export Citation Format

Share Document