scholarly journals OTHR-09. CENTRAL DIABETES INSIPIDUS: A RARE UNREPORTED SIDE EFFECT OF TEMOZOLOMIDE IN PEDIATRICS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii423-iii424
Author(s):  
Christopher Kuo ◽  
Kaaren Waters ◽  
Clement Cheung ◽  
Ashley Margol
Keyword(s):  
Diabetes Insipidus ◽  
Pediatric Patient ◽  
Side Effect ◽  
Case Reports ◽  
Central Diabetes Insipidus ◽  
Preliminary Evaluation ◽  
Laboratory Findings ◽  
First Case ◽  
Anterior Pituitary Function ◽  
Clinically Significant

Abstract Temozolomide is a chemotherapeutic agent commonly used in the treatment of central nervous system tumors. While there are case reports of temozolomide associated central diabetes insipidus (CDI) in adults, this has not been reported in children. We describe the first case of temozolomide associated CDI in a pediatric patient. The patient was a previously healthy 12yr old male diagnosed with anaplastic astroblastoma. He underwent gross total resection of the lesion and was subsequently treated with focal radiation therapy and concurrent temozolomide. On day 21 of therapy he developed thrombocytopenia, severe polyuria and polydipsia. Temozolomide was held and he underwent a preliminary evaluation for CDI. Initial laboratory findings were concerning for CDI, and he was admitted for further work-up and to assess the need for desmopressin. Additional laboratory tests demonstrated normal anterior pituitary function and his serum sodium normalized when allowed to drink to thirst, mitigating the need for desmopressin. Temozolomide was not restarted and the symptoms of polyuria and polydipsia resolved and did not recur. Upon review, the tumor did not involve the pituitary or hypothalamus. Additionally, these areas were not involved in the irradiation field. CDI is a rare but clinically significant side effect of temozolomide, reported in adults. Given this is the first report of CDI secondary to temozolomide in a pediatric patient, we speculate that this is likely under-recognized in children. Prompt recognition and treatment is necessary to prevent severe sequelae of hypernatremia.

scholarly journals Central Diabetes Insipidus: A Previously Unreported Side Effect of Temozolomide

2013 ◽  
Vol 98 (10) ◽  
pp. 3926-3931 ◽  
Author(s):  
Alexander T. Faje ◽  
Lisa Nachtigall ◽  
Deborah Wexler ◽  
Karen K. Miller ◽  
Anne Klibanski ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Side Effect ◽  
Central Diabetes Insipidus ◽  
Bright Spot ◽  
Patient Database ◽  
Anterior Pituitary Function ◽  
The Central Nervous System ◽  
Effect Of Treatment ◽  
Case Presentations ◽  
Index Cases

Abstract Context: Temozolomide (TMZ) is an alkylating agent primarily used to treat tumors of the central nervous system. We describe 2 patients with apparent TMZ-induced central diabetes insipidus. Using our institution's Research Patient Database Registry, we identified 3 additional potential cases of TMZ-induced diabetes insipidus among a group of 1545 patients treated with TMZ. Case Presentations: A 53-year-old male with an oligoastrocytoma and a 38-year-old male with an oligodendroglioma each developed symptoms of polydipsia and polyuria approximately 2 months after the initiation of TMZ. Laboratory analyses demonstrated hypernatremia and urinary concentrating defects, consistent with the presence of diabetes insipidus, and the patients were successfully treated with desmopressin acetate. Desmopressin acetate was withdrawn after the discontinuation of TMZ, and diabetes insipidus did not recur. Magnetic resonance imaging of the pituitary and hypothalamus was unremarkable apart from the absence of a posterior pituitary bright spot in both of the cases. Anterior pituitary function tests were normal in both cases. Using the Research Patient Database Registry database, we identified the 2 index cases and 3 additional potential cases of diabetes insipidus for an estimated prevalence of 0.3% (5 cases of diabetes insipidus per 1545 patients prescribed TMZ). Conclusions: Central diabetes insipidus is a rare but reversible side effect of treatment with TMZ.

Central diabetes insipidus: A rare unreported side effect of temozolomide in pediatrics

2020 ◽  
Vol 67 (12) ◽  
Author(s):  
Christopher Kuo ◽  
Dione Foon ◽  
Kaaren Waters ◽  
Clement Cheung ◽  
Ashley S. Margol
Keyword(s):  
Diabetes Insipidus ◽  
Side Effect ◽  
Central Diabetes Insipidus

scholarly journals Case report: a 5-year-old with new onset nephrotic syndrome in the setting of COVID-19 infection

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Kelsi M. Morgan ◽  
Peace D. Imani
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Pediatric Patient ◽  
Corticosteroid Therapy ◽  
Clinical Remission ◽  
Laboratory Findings ◽  
Case Presentation ◽  
The Third ◽  
First Case ◽  
New Onset

Abstract Background This is a case report of an asymptomatic SARS-CoV-2 infection associated with new-onset nephrotic syndrome in a pediatric patient. This is the third case of new-onset nephrotic syndrome in children associated with SARS-CoV-2 infection, but is the first case report describing a new-onset nephrotic syndrome presentation in a patient who had asymptomatic COVID-19 infection. Case presentation This is a case of a previously healthy 5 year old female who presented with new-onset nephrotic syndrome in the setting of an asymptomatic COVID-19 infection. She presented with progressive edema, and laboratory findings were significant for proteinuria and hypercholesterolemia. She was treated with albumin, diuretics, and corticosteroid therapy, and achieved clinical remission of her nephrotic syndrome within 3 weeks of treatment. Though she was at risk of hypercoagulability due to her COVID-19 infection and nephrotic syndrome, she was not treated with anticoagulation, and did not develop any thrombotic events. Conclusions Our case report indicates that SARS-CoV-2 infection could be a trigger for nephrotic syndrome, even in the absence of overt COVID-19 symptoms.

scholarly journals Langerhans Cell Histiocytosis with Isolated Central Diabetes Insipidus, Low Grade Fever and Sellar Erosion

2021 ◽  
Author(s):  
İclal Okur ◽  
Hasan Ari ◽  
Semra Çetinkaya ◽  
Betül Emine Derinkuyu ◽  
Gizem Çağlar ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Bone Structure ◽  
Sella Turcica ◽  
Langerhans Cell ◽  
Central Diabetes Insipidus ◽  
Bone Lesions ◽  
Warning Sign ◽  
Low Grade ◽  
First Case

Langerhans cell histiocytosis (LCH) is a rare disease of the monocyte-macrophage system. Although it is known that bone involvement is seen very frequently in cases with LCH, our case is the first case with a lytic-destructive lesion in the bone structure forming sella turcica. A 4-year-old, 5-month-old male patient who applied to our outpatient clinic was diagnosed with Langerhans cell histiocytosis in further examination after the diagnosis of central diabetes insipidus (CDI) was made. On cranial magnetic resonance imaging (MRI), widespread lytic-destructive bone lesions were observed in the bone structure forming the sella (sphenoid bone), sellar destruction not previously described in the literature. Sellar erosion has not been reported before in cases diagnosed with LCH in the literature. The presence of low-grade fever in a patient presenting with isolated CDI is a warning sign for the diagnosis of LCH.

scholarly journals SAT-069 Advantages of Next Generation Sequencing (NGS) in Hypophosphatemic Disorders Diagnosis. First Case of SLC9A3R1 Gene Pathogenic Variant Detected in a Pediatric Patient

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Pablo Ramirez, Biochemist ◽  
Isabel Di Palma ◽  
Gisela Viterbo ◽  
Natalia Isabel Perez-Garrido, Biochemist ◽  
Matias Pujana, Biochemist ◽  
...  
Keyword(s):  
Pediatric Patient ◽  
Pathogenic Variant ◽  
Hypophosphatemic Rickets ◽  
Inherited Disorders ◽  
Molecular Alteration ◽  
Vitamin D Metabolism ◽  
Laboratory Findings ◽  
Long Term Outcome ◽  
First Case ◽  
Phex Gene

Abstract Background: Hereditary hypophosphatemic rickets (HHR) is a group of inherited disorders characterized by hypophosphatemia due to renal-phosphate wasting and impairment of vitamin D metabolism, rickets and disproportioned short stature. Different genetic defects are known to cause HHR, but similar clinical and biochemical features were reported. Dominant-X-linked HR (XLHR) is the most frequent form, with an incidence of 1 in 20.000, although dominant and recessive autosomal forms are also described. XLHR is caused by inactivating mutations in the PHEX gene (located at Xp22.1), encoding a endopeptidase which regulates the phosphaturic secretion. Affected individuals present with a broad phenotypic spectrum, ranging from isolated hypophosphatemia up to severe symptoms of rickets. Therefore NGS studies represent an useful tool for molecular diagnosis characterization Aim: to develop a reliable NGS diagnostic tool for HHR and related disorders. Patients and Methods: we develop a NGS panel including 13 genes related with HHR or other hypophosphatemic disorders, using Illumina TruSeq Custom Amplicon technology. We analyzed 12 patients which have been sent to our laboratory for molecular genetic testing under suspicion of HHR based on clinical phenotype and laboratory studies but with no proven mutation in PHEX gene by Sanger sequencing or MLPA analysis or other hypophosphatemic disorder. Results: A previously reported pathogenic variant (p.Arg153Gln) was found in SLC9A3R1 gene encoding NHERF1cotransporter, which interact with phosphate and sodium renal transporter NaPi2a in a 13 months old girl. There are only 5 reported cases with alterations in this gene and all of them were adult patients with nephrolithiasis. The patient was referred to our hospital due to hypercalcemia. She had poor weight gain and laboratory findings showed high serum calcium (16,6 mg/dl), mild serum phosphate (3.9 mg/dl), very low parathyroid hormone (PTH) (< 3 ng/ml), normal 25OHvit D (40 ng/ml) levels, and elevated urinary calcium/ creatinine rate (2), and low phosphate tubular reabsorption (85%). Ultrasound showed nephrolithiasis. Since she had hypophosphatemia and renal phosphate wasting with symptomatic severe PTH independent hypercalcemia probably secondary to excessive calcitriol production with hypercalciuria, a molecular alteration of CYP24A1 or SLC34A1genes was suspected. Conclusion: NGS allowed to report for the first time the identification of a mutation in the SLC9A3R1 gene in a pediatric patient. An early diagnosis might improve long term outcome starting the right therapy to avoid progression of nephrolithiasis and nephrocalcinosis and chronic renal failure.

scholarly journals Central Diabetes Insipidus Due to Acute Myeloid Leukemia

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A575-A576
Author(s):  
Dakota J Boston ◽  
Steven N Levine ◽  
Rajini Kanth Reddy Yatavelli
Keyword(s):  
Acute Myeloid Leukemia ◽  
Diabetes Insipidus ◽  
Myeloid Leukemia ◽  
Hematopoietic Cell Transplantation ◽  
Case Reports ◽  
Free Water ◽  
Central Diabetes Insipidus ◽  
Chromosome 3 ◽  
Monosomy 7 ◽  
Acute Myeloid

Abstract Central diabetes insipidus (CDI) is a condition characterized by decreased secretion of antidiuretic hormone (ADH) and is commonly seen with pathology involving the hypothalamic/pituitary area. Common etiologies include congenital disorders, neurosurgery or trauma, infiltrative disorders, primary or secondary cancers, and idiopathic causes. CDI associated with acute myeloid leukemia (AML) is extremely rare, with about 100 published case reports, and typically occurs in patients with chromosome 3 or 7 abnormalities. A 49-year-old woman was admitted to the inpatient oncology service for chemotherapy with gemtuzumab with a goal of inducing remission of her AML prior to allogeneic hematopoietic cell transplantation. She had been diagnosed with AML 7 months prior to this admission and was considered high risk for poor clinical outcome due to cytogenetics demonstrating deletion of chromosome 7 and inversion of chromosome 3. She was noted to have increasing serum sodium and endocrine was consulted for evaluation of hypernatremia. Patient had a peak sodium of 154 meq/L which improved with free water replacement. She reported excessive thirst with associated polyuria and nocturia. Laboratory tests demonstrated inappropriately dilute urine for the degree of serum osmolality, consistent with a low ADH tone. A water deprivation test was performed which resulted in plasma and urine osmolalities of 311 mosm/kg and 103 mosm/kg, respectively. After the administration of desmopressin the Uosm increased to 345 mosm/kg at 2 hours and 484 mosm/kg at 5 hours, confirming a diagnosis of Central DI. Evaluation of other pituitary axes showed normal TSH and FT4 with a normal cortisol response on a cosyntropin stimulation test. She had low-normal LH and FSH plus a mildly elevated prolactin level (38.7 ng/mL) which were attributed to stress. An MRI of the brain done to rule out any hypothalamic/pituitary metastasis or hypophysitis was normal. AML associated with Central DI occurs rarely, is associated with a poor prognosis, and the pathogenesis is unclear. The most commonly reported cytogenetic aberrations in patients with AML and CDI are monosomy 7 and 3q alterations. Our patient had monosomy 7 and chromosome 3 inversion. Proposed pathogenic mechanisms include leukemic infiltration of the pituitary, overexpression of ectopic virus integration (EVI-1) site interfering with hypothalamic neuroendocrine secretion, and abnormal thrombopoiesis interfering with ADH levels in blood. This case illustrates a lesser-known cause for central diabetes insipidus. While other more common etiologies of CDI should still be considered first, recognition of this association can provide clarity to the origin of DI in select patients.

Erythrocytosis and Normal Erythropoietin Levels In a 3 Year Old Female With High-Risk Neuroblastoma

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 4664-4664
Author(s):  
Erin Kelly Barr ◽  
Mary Elizabeth Ross ◽  
Mohamad M. Al-Rahawan
Keyword(s):  
High Risk ◽  
Pediatric Patient ◽  
Conflicts Of Interest ◽  
Case Reports ◽  
Abdominal Mass ◽  
Tumor Resection ◽  
Neuroblastoma Cells ◽  
Hemoglobin Level ◽  
Age Group ◽  
First Case

Introduction Erythrocytosis has been reported in a number of cancers as a result of tumor production of Erythropoietin (EPO). There has been one reported case that we are aware of in a pediatric patient with neuroblastoma (Wang LY, et al. J Pediatr Hematol Oncol. 2003 Aug;25(8):649-50). Erythrocytosis in a pediatric neuroblasotoma patient with normal EPO levels, which is the subject of this case report, has not been reported previously. Case A three year-old female presented with a right sided abdominal pain of one week duration as well as constipation and decreased appetite of one month duration. Radiology studies showed a large abdominal mass, which turned out to be a poorly differentiated high-risk neuroblastoma on an incisional biopsy. For the first three months of this patient’s therapy and despite intense chemotherapy she was noted to have abnormally high hemoglobin levels. The peak hemoglobin level was 18 g/dL but she maintained hemoglobin levels greater than 14g/dL, which was greater than the 97th percentile for her age group (Dallman PR, et al. J Pediatr. 1979 Jan;94(1):26-31). Testing for EPO when the hemoglobin level was elevated showed a level of 8.1 mIU/ml, which was within the normal range for the patient’s age group (Krafte-Jacobs B, et al. J Pediatr. 1995 Apr;126(4):601-3). After tumor resection but before the conclusion of the myleosuppressive chemotherapy, hemoglobin levels fell below 10 for the majority of time. Discussion Although there has been a case reported of a pediatric patient with neuroblastoma having erythrocytosis, this is the first case where the patient was actually found to have normal EPO levels. Case reports looking at EPO and erythrocytosis in children with Wilms tumors have reported a couple cases of children who had normal EPO levels (Lal A, et al. J Pediatr Hematol Oncol. 1997 May-Jun;19(3):263-5). This report showed no recurrence of polycythemia when the tumors were removed in these patients. The authors concluded that tumor or surrounding renal tissue was at some point producing EPO despite their inability to detect it. Conclusion We speculate that neuroblastoma tumors and possibly other pediatric tumors may be releasing a novel erythropoietic cytokine. Hormone-like cytokines have been reported with other cancers, such as hypercalcemia produced by PTH related peptide in breast and lung cancers. More research is needed to determine what, if any, novel EPO-like hormones are being released by neuroblastoma cells resulting in erythrocytosis despite normal EPO levels. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Five cases with central diabetes insipidus and hypogonadism as first presentation of neurosarcoidosis

2000 ◽  
Vol 142 (4) ◽  
pp. 365-372 ◽  
Author(s):  
C Bullmann ◽  
M Faust ◽  
A Hoffmann ◽  
C Heppner ◽  
F Jockenhovel ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Case Reports ◽  
Lymphocytic Hypophysitis ◽  
Central Diabetes Insipidus ◽  
Presenting Symptoms ◽  
Pituitary Dysfunction ◽  
Mri Scans ◽  
Primary Evaluation ◽  
Therapy Result

OBJECTIVES: We retrospectively reviewed 5 patients with neurosarcoidosis, who all presented with central diabetes insipidus and hypogonadism. DESIGN: This was a single-centre, retrospective analysis of 5 cases with a minimum follow-up of 2 years. METHODS: Case analysis included clinical, biochemical, and endocrinological evaluation and frequent CT/MRI scans of involved organs as primary evaluation and in response to immunosuppressive therapy. RESULT: Neurosarcoidosis was diagnosed in all patients. Two patients had no proven extracerebral manifestation and had a stable disease over 3 and 5 years. One patient showed deterioration with corticosteroids alone but partial remission after additional cyclophosphamide. Pituitary dysfunction remained unchanged in all patients, despite total clinical and radiological remission in two patients. However, one of these patients died of acute granulomatous meningoencephalitis after two years of follow-up. CONCLUSION: Although the presenting symptoms of neurosarcoidosis may vary, the occurrence of central diabetes insipidus associated with typical radiological features is suggestive of neurosarcoidosis. However, there is an increasing number of case reports on lymphocytic hypophysitis. Without the bioptic diagnosis, the differentiation between potentially lethal isolated neurosarcoidosis and lymphocytic hypophysitis is difficult. These cases demonstrate the difficulties in diagnosing neurosarcoidosis and reflect experiences with follow-up parameters.

scholarly journals Bilateral Lower-Extremity Edema Caused by Iliopsoas Bursal Distention after Hip Arthroplasty

2016 ◽  
Vol 43 (6) ◽  
pp. 550-551
Author(s):  
Sameer K. Avasarala ◽  
Syed T. Ahsan
Keyword(s):  
Lower Extremity ◽  
Case Reports ◽  
Lower Extremity Edema ◽  
Artificial Joints ◽  
Hip Prostheses ◽  
Inappropriate Use ◽  
Bilateral Lower Extremity ◽  
First Case ◽  
Clinically Significant ◽  
Ultrasonographic Guidance

Lower-extremity edema is encountered by internists, nephrologists, vascular specialists, and many others. We report a case of an elderly woman who presented with a painful, swollen left leg. Without a clear diagnosis, she had been taking diuretics for the past 8 years for swelling in both legs. After extensive investigation, we found that her lower-extremity edema was due to bilateral iliopsoas bursal distention secondary to degeneration of her hip prostheses. Chronic breakdown of the polyethylene component of the hip prostheses had led to a communication between the artificial joints and the iliopsoas bursae. With the aid of ultrasonographic guidance, she underwent drainage, followed by clinical and radiographic improvement. Although case reports have described leg swelling arising from extravascular compression by enlarged iliopsoas bursae, we think that this is the first case of clinically significant bilateral lower-extremity edema arising from that cause. More important than the novelty is the inappropriate use of diuretics to treat lower-extremity edema without first establishing a diagnosis.

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