scholarly journals Rare occurrence of central diabetes insipidus with dermatomyositis in a young male

2020 ◽  
Vol 2020 ◽  
Author(s):  
Aishah Ekhzaimy ◽  
Afshan Masood ◽  
Seham Alzahrani ◽  
Waleed Al-Ghamdi ◽  
Daad Alotaibi ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Inflammatory Myopathy ◽  
Young Male ◽  
Central Diabetes Insipidus ◽  
Endocrine Disorders ◽  
Extensive Literature ◽  
List Type ◽  
Autoimmune Conditions ◽  
History Of ◽  
Autoimmune Condition

Summary Central diabetes insipidus (CDI) and several endocrine disorders previously classified as idiopathic are now considered to be of an autoimmune etiology. Dermatomyositis (DM), a rare autoimmune condition characterized by inflammatory myopathy and skin rashes, is also known to affect the gastrointestinal, pulmonary, and rarely the cardiac systems and the joints. The association of CDI and DM is extremely rare. After an extensive literature search and to the best of our knowledge this is the first reported case in literature, we report the case of a 36-year-old male with a history of CDI, who presented to the hospital’s endocrine outpatient clinic for evaluation of a 3-week history of progressive facial rash accompanied by weakness and aching of the muscles. Learning points: Accurate biochemical diagnosis should always be followed by etiological investigation. This clinical entity usually constitutes a therapeutic challenge, often requiring a multidisciplinary approach for optimal outcome. Dermatomyositis is an important differential diagnosis in patients presenting with proximal muscle weakness. Associated autoimmune conditions should be considered while evaluating patients with dermatomyositis. Dermatomyositis can relapse at any stage, even following a very long period of remission. Maintenance immunosuppressive therapy should be carefully considered in these patients.

scholarly journals One too many diabetes: the combination of hyperglycaemic hyperosmolar state and central diabetes insipidus

2018 ◽  
Vol 2018 ◽  
Author(s):  
Snezana Burmazovic ◽  
Christoph Henzen ◽  
Lukas Brander ◽  
Luca Cioccari
Keyword(s):  
Diabetes Mellitus ◽  
Glycaemic Control ◽  
Specific Gravity ◽  
Diabetes Insipidus ◽  
Urine Osmolality ◽  
Central Diabetes Insipidus ◽  
Urine Specific Gravity ◽  
List Type ◽  
Poor Glycaemic Control ◽  
History Of

Summary The combination of hyperosmolar hyperglycaemic state and central diabetes insipidus is unusual and poses unique diagnostic and therapeutic challenges for clinicians. In a patient with diabetes mellitus presenting with polyuria and polydipsia, poor glycaemic control is usually the first aetiology that is considered, and achieving glycaemic control remains the first course of action. However, severe hypernatraemia, hyperglycaemia and discordance between urine-specific gravity and urine osmolality suggest concurrent symptomatic diabetes insipidus. We report a rare case of concurrent manifestation of hyperosmolar hyperglycaemic state and central diabetes insipidus in a patient with a history of craniopharyngioma. Learning points: In patients with diabetes mellitus presenting with polyuria and polydipsia, poor glycaemic control is usually the first aetiology to be considered. However, a history of craniopharyngioma, severe hypernatraemia, hyperglycaemia and discordance between urine-specific gravity and osmolality provide evidence of concurrent diabetes insipidus. Therefore, if a patient with diabetes mellitus presents with severe hypernatraemia, hyperglycaemia, a low or low normal urinary-specific gravity and worsening polyuria despite correction of hyperglycaemia, concurrent diabetes insipidus should be sought.

scholarly journals Pregnancy may favour the development of severe autoimmune central diabetes insipidus in women with vasopressin cell antibodies: description of two cases

2015 ◽  
Vol 172 (3) ◽  
pp. K11-K17 ◽  
Author(s):  
Giuseppe Bellastella ◽  
Antonio Bizzarro ◽  
Ernesto Aitella ◽  
Mariluce Barrasso ◽  
Domenico Cozzolino ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Post Partum ◽  
Central Diabetes Insipidus ◽  
Pituitary Function ◽  
Unsuccessful Attempt ◽  
Function Recovery ◽  
History Of ◽  
In Pregnancy

Recently, an increased incidence of central diabetes insipidus (CDI) in pregnancy, and less frequently in thepost partumperiod, has been reported, most probably favoured by some conditions occurring in pregnancy. This study was aimed at investigating the influence of pregnancy on a pre-existing potential/subclinical hypothalamic autoimmunity. We studied the longitudinal behaviour of arginine–vasopressin cell antibodies (AVPcAbs) and post-pituitary function in two young women with a positive history of autoimmune disease and presence of AVPcAbs, but without clinical CDI, and who became pregnant 5 and 7 months after our first observation. The behaviour of post-pituitary function and AVPcAbs (by immunofluorescence) was evaluated at baseline, during pregnancy and for 2 years after delivery. AVPcAbs, present at low/middle titres at baseline in both patients, showed a titre increase during pregnancy in one patient and after delivery in the other patient, with development of clinically overt CDI. Therapy with 1-deamino-8-d-arginine vasopressin (DDAVP) caused a prompt clinical remission. After a first unsuccessful attempt of withdrawal, the therapy was definitively stopped at the 6th and the 7th month ofpost partumperiod respectively, when AVPcAbs disappeared, accompanied by post-pituitary function recovery, persisting until the end of the follow-up. The determination of AVPcAbs is advisable in patients with autoimmune diseases planning their pregnancy, because they could be considered good predictive markers of gestational orpost partumautoimmune CDI. The monitoring of AVPcAb titres and post-pituitary function during pregnancy in these patients may allow for an early diagnosis and an early replacement therapy, which could induce the disappearance of these antibodies with consequent complete remission of CDI.

scholarly journals Does Autoimmunity in Family Members of Children with Immune Thrombocytopenia Help Identify Patients at Higher Risk of Chronic Immune Thrombocytopenia?

Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 3168-3168
Author(s):  
Michell Lozano Chinga ◽  
Mark Fluchel ◽  
Jessica Meznarich
Keyword(s):  
Immune Thrombocytopenia ◽  
Chart Review ◽  
Family Members ◽  
Immune Dysregulation ◽  
University Of Utah ◽  
Autoimmune Conditions ◽  
History Of ◽  
Autoimmune Condition ◽  
The University ◽  
Chronic Immune Thrombocytopenia

Abstract Background Immune thrombocytopenia (ITP) is the most common cause of thrombocytopenia during childhood. Approximately 10-30% of pediatric patients will develop chronic ITP (cITP), which is defined as thrombocytopenia lasting over 12 months, and constitutes a significant burden for patients and their caregivers. Patients with cITP may require ongoing medications to treat symptomatic thrombocytopenia, may have asymptomatic thrombocytopenia not requiring medical interventions, or may experience complete resolution of their ITP. There are not specific patient nor disease characteristics that can help us predict how cITP may progress, and which patients are more likely to require ongoing treatments. ITP can be a manifestation of immune dysregulation in patients with other autoimmune conditions or primary immunodeficiency disorders (PIDDs). We aimed to assess the characteristics of patients with cITP including the presence of autoimmune or allergic disorders in the patients and in first-, second-, and third-degree family members. We hypothesized that patients with cITP may have a higher incidence of immune dysregulation in family members in contrast to patients with acute aITP. Methods The study was approved by the institutional review and ethics boards at the University of Utah. We queried the Primary Children's Hospital database for cases of "immune thrombocytopenia" from January 1 st, 2001 to January 1 st,2021. Retrospective chart review was done to confirm the diagnosis. Patient demographics, clinical presentation, and family history of patients were reviewed. Data was collected in RedCap at the University of Utah. Descriptive summaries of data were done. Results Medical charts from 266 ITP patients diagnosed during the study period were reviewed; 182/266 (68.5%) had acute ITP (aITP) and 84/266 (31.5%) patients had cITP, defined as platelet count <150 K/µl for >12 months. Resolution of ITP occurred in 28/84 (33.3%) patients with cITP (resolved cITP), while 56/84 (66.7%) had ongoing thrombocytopenia (unresolved cITP). Mean duration of ITP in patients with resolved cITP was 2.9 years, and 4.6 years in patients with unresolved cITP at the time of the last known platelet count. Mean age at diagnosis was 7.4 years in the cITP group and 5.1 years in the aITP group. Concurrent allergic conditions were identified in 10/84 (12%) of patients with cITP and 5/182 (2.7%) of patients with aITP. Autoimmune conditions were identified in 3 patients (3.5%) with cITP, and 4 patients (2.2%) with aITP. First-degree family members of cITP patients were more likely to be reported with an autoimmune condition than first-degree family members of aITP patients (15.5% vs. 5.5%, p=0.007 using Chi-square test); this effect was not seen amongst second- or third-degree relatives. The most common autoimmune condition reported in family members was autoimmune thyroid disease in both cohorts (2.7% in aITP and 9.5% in cITP). Common variable immunodeficiency (CVID) was reported in second degree relatives of 3/84 (3.6%) patients with cITP; no relatives of patients with aITP had a report of PIDD. Additionally, we identified 14 patients with Evans syndrome (ES), all with chronic immune thrombocytopenia and all patients had been followed for over a year at the time of the chart review. Four ES patients were previously diagnosed with 22q11.2 deletion, and one with CVID. In patients with ES, 4/14 (28.6%) and 5/14 (35.7%) had first- and second-degree family members with a reported autoimmune condition, respectively. No PIDDs were identified in first, second-, or third-degree relatives of patients with ES. Conclusions There is increasing evidence that patients with chronic ITP may exhibit polyautoimmunity or other signs of immune dysregulation, suggesting that ITP may be the initial manifestation of another autoimmune process or PIDD. We evaluated medical histories of patients with ITP and their family members. Patients with cITP have a history of autoimmunity in their family stronger than in patients with aITP. This association was even stronger in patients with ES. Disclosures No relevant conflicts of interest to declare.

scholarly journals Methotrexate-associated lymphoproliferative disorder with hypopituitarism and central diabetes insipidus

2019 ◽  
Vol 2019 ◽  
Author(s):  
Misaki Aoshima ◽  
Koji Nagayama ◽  
Kei Takeshita ◽  
Hiroshi Ajima ◽  
Sakurako Orikasa ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Subcutaneous Tissue ◽  
Brain Magnetic Resonance Imaging ◽  
Immunosuppressive Drugs ◽  
Anterior Mediastinum ◽  
Central Diabetes Insipidus ◽  
Oculomotor Nerve Palsy ◽  
List Type ◽  
Pituitary Dysfunction ◽  
Pituitary Lesion

Summary Patients treated with immunosuppressive drugs, especially methotrexate (MTX), rarely develop lymphoproliferative disorders (LPDs), known as MTX-related LPD (MTX–LPD). The primary site of MTX–LPD is often extranodal. This is the first reported case of MTX–LPD in the pituitary. A 65-year-old woman was admitted to our hospital with symptoms of oculomotor nerve palsy and multiple subcutaneous nodules. She had been treated with MTX for 11 years for rheumatoid arthritis. Computed tomography showed multiple masses in the orbit, sinuses, lung fields, anterior mediastinum, kidney, and subcutaneous tissue. Brain magnetic resonance imaging revealed a sellar mass. She was diagnosed with hypopituitarism and central diabetes insipidus based on endocrine examination. Although pituitary biopsy could not be performed, we concluded that the pituitary lesion was from MTX–LPD, similar to the lesions in the sinuses, anterior mediastinum, and subcutaneous tissue, which showed polymorphic LPD on biopsy. MTX was discontinued, and methylprednisolone was administered to improve the neurologic symptoms. After several weeks, there was marked improvement of all lesions, including the pituitary lesion, but the pituitary function did not improve. When pituitary lesions are caused by MTX–LPD, the possibility of anterior hypopituitarism and central diabetes insipidus needs to be considered. Further studies are needed to investigate the effectiveness of early diagnosis and treatment of MTX–LPD in restoring pituitary dysfunction. Learning points Pituitary lesions from MTX–LPD may cause hypopituitarism and central diabetes insipidus. Pituitary metastasis of malignant lymphoma and primary pituitary lymphoma, which have the same tissue types with MTX–LPD, have poor prognosis, but the lesions of MTX–LPD can regress only after MTX discontinuation. In cases of pituitary lesions alone, a diagnosis of MTX–LPD may be difficult, unless pituitary biopsy is performed. This possibility should be considered in patients treated with immunosuppressive drugs. Pituitary hypofunction and diabetes insipidus may persist, even after regression of the lesions on imaging due to MTX discontinuation.

scholarly journals General Paresis in a Child with Unusual Presentation

2020 ◽  
Vol 18 (2) ◽  
Author(s):  
Muhamad Azamin Anuar ◽  
Wan Alina Khadijah ◽  
Asrar Abu Bakar ◽  
Mossad Abdelhak Shaban Mohamed ◽  
Taufiq Hidayat Hasan
Keyword(s):  
Juvenile Dermatomyositis ◽  
Inflammatory Myopathy ◽  
Access Point ◽  
Acute Onset ◽  
Recurrent Tonsillitis ◽  
Tertiary Centre ◽  
Paravertebral Muscles ◽  
Normal Tone ◽  
Autoimmune Conditions ◽  
History Of

Introduction: Acute onset quadriparesis can be a manifestation of a variety of neurological, metabolic or autoimmune conditions. Rarely, it could be one of many clinical presentations of juvenile dermatomyositis which belongs to the group of idiopathic inflammatory myopathies of childhood. We report the case of a 9-year old girl who presented with global myopathy over a two-month period. Case report: A 9-year-old girl referred with a 2 months history of generalised muscular pain and weakness. There were no significant history of preceded illness, trauma or excessive strenuous exercises. She had no other systemic complaints such as fever or skin rash. Past medical history was unremarkable except for recurrent tonsillitis. Physical examination revealed a child with normal alertness and behaviour. She has notable generalised swelling of all four limbs. Her neurological examination revealed normal tone however her power was definitely reduced in all four limbs (Graded 3/5). She demonstrated signs of proximal myopathy. Subsequent investigations revealed high Creatinine Kinase (CK) levels of 6470U/L, ESR 84mm/hr with deranged transaminases and positive serum mycoplasma and CMV IgM. Her MRI brain and spine along with lumbar puncture results were normal. She was referred to tertiary centre for further evaluation as her weakness progressed. An MRI muscle demonstrated marked inflammation in all four limbs including paravertebral muscles. Her muscle biopsy showed inflammatory myopathy leading to a diagnosis of juvenile dermatomyositis (JDM). She is now showing sustained clinical improvements following a course of immunoglobulin and corticosteroids therapy. Discussion: The diagnosis of JDM is generally considered in patients with rash-associated muscle weakness. Essentially, it involves assessment of muscle, skin, lung and cardiac involvement on top of baseline list of investigations that has been outline by Single Hub and Access point for pediatric Rheumatology in Europe (SHARE). This case reflects that JDM is possible despite non-existent of skin involvement.  

scholarly journals Cerebral tuberculomas in a 6-year-old girl causing central diabetes insipidus

2018 ◽  
pp. bcr-2018-226590 ◽  
Author(s):  
Shavindra Chellen ◽  
Elizabeth Whittaker ◽  
Michael Eisenhut ◽  
Louis Grandjean
Keyword(s):  
Diabetes Insipidus ◽  
Pulmonary Infection ◽  
Central Diabetes Insipidus ◽  
X Ray ◽  
Csf Analysis ◽  
Tb Treatment ◽  
History Of ◽  
Ct Head ◽  
Chest X Ray ◽  
Strong Suspicion

A 6-year-old girl presented acutely with worsening frontal headaches. She had a 3-month history of lethargy, reduced appetite, weight loss, cough and intermittent fevers. A chest X-ray showed a left upper lobe consolidation, and a CT head showed multiple enhancing lesions with significant surrounding oedema in both cerebral hemispheres. Due to the strong suspicion of tuberculosis (TB), she was admitted and treated with anti-TB therapy and steroids. Following this, pulmonary infection with Mycobacterium tuberculosis was confirmed by a positive PCR from induced sputum. Cerebral spinal fluid (CSF) analysis was normal and tested negative for M. tuberculosis on PCR. During her first week of treatment, she developed polyuria, nocturia and polydipsia and was diagnosed with central diabetes insipidus. She was started on desmopressin which rapidly improved her symptoms, and she was continued on desmopressin for 3 months. Currently, she remains well and has shown a good response to TB treatment.

scholarly journals Diabetes insipidus and hypopituitarism in HIV: an unexpected cause

2017 ◽  
Vol 2017 ◽  
Author(s):  
Carlos Tavares Bello ◽  
Francisco Sousa Santos ◽  
João Sequeira Duarte ◽  
Carlos Vasconcelos
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Diabetes Insipidus ◽  
Clinical Entity ◽  
Central Diabetes Insipidus ◽  
Positive Patient ◽  
Hiv Positive ◽  
Cns Lymphoma ◽  
List Type ◽  
Cns Lymphomas

Summary Central diabetes insipidus (DI) is a rare clinical entity characterized by low circulating levels of antidiuretic hormone (ADH) presenting with polyuria and volume depletion. Pituitary surgery is the most common cause of central DI in adults. Pituitary and hypothalamic disease, particularly invasive neoplasms, rarely cause DI, being idiopathic cases responsible for the majority of non-surgical cases. HIV patients, especially those with poor virulogical control, are prone to the development of CNS neoplasms, particularly lymphomas. These neoplasms usually become manifest with mass effects and seizures. Central DI and hypopituitarism are uncommon initial manifestations of primary CNS lymphomas. The authors describe the case of 29-year-old female, HIV-positive patient whose CNS lymphoma presented with DI. Learning points: Central diabetes insipidus has multiple causes and central nervous system lymphomas are not often considered in the differential diagnosis due to their low prevalence. Accurate biochemical diagnosis should always be followed by etiological investigation. The HIV population is at risk for many neoplasms, especially CNS lymphomas. New-onset polyuria in an HIV-positive patient in the absence of focal neurological signs should raise the suspicion for a central nervous system process of neoplastic nature. This clinical entity usually constitutes a therapeutical challenge, often requiring a multidisciplinary approach for optimal outcome.

scholarly journals Use of acetazolamide in lithium-induced nephrogenic diabetes insipidus: a case report

2018 ◽  
Vol 2018 ◽  
Author(s):  
Ricardo A Macau ◽  
Tiago Nunes da Silva ◽  
Joana Rego Silva ◽  
Ana Gonçalves Ferreira ◽  
Pedro Bravo
Keyword(s):  
Case Report ◽  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Standard Treatment ◽  
Previous History ◽  
List Type ◽  
Severe Dehydration ◽  
History Of ◽  
Patient Series ◽  
Learning Points

Summary Lithium-induced nephrogenic diabetes insipidus (Li-NDI) is a rare and difficult-to-treat condition. A study in mice and two recent papers describe the use of acetazolamide in Li-NDI in 7 patients (a case report and a 6 patient series). We describe the case of a 63-year-old woman with bipolar disorder treated with lithium and no previous history of diabetes insipidus. She was hospitalized due to a bowel obstruction and developed severe dehydration after surgery when she was water deprived. After desmopressin administration and unsuccessful thiazide and amiloride treatment, acetazolamide was administrated to control polyuria and hydroelectrolytic disorders without significant side effects. To our knowledge, this is the third publication on acetazolamide use in Li-NDI patients. Learning points: Treatment of lithium-induced nephrogenic diabetes insipidus might be challenging. Vasopressin, amiloride and thiazide diuretics have been used in lithium-induced nephrogenic diabetes insipidus treatment. Acetazolamide might be an option to treat lithium-induced nephrogenic diabetes insipidus patients who fail to respond to standard treatment. The use of acetazolamide in lithium-induced nephrogenic diabetes insipidus must be monitored, including its effects on glomerular filtration rate.

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.

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