Syndrome of inappropriate secretion of anti-diuretic hormone due to hypothalamic hamartoma: use of tolvaptan
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Rebecca Jane Moon
,
Maisara Soliman
Abstract
Objectives
Hypothalamic hamartoma (HH) typically presents with gonadotrophin-dependent precocious puberty and/or seizures. Other endocrine disturbances are rare. We describe an infant with syndrome of inappropriate secretion of anti-diuretic hormone (SIADH) and a HH.
Case presentation
A 6-week-old infant presented with seizures and life-threatening hyponatremia. A HH was identified on magnetic resonance imaging. Clinical examination and biochemistry were consistent with SIADH, and serum copeptin was high during hyponatremia, further supporting this diagnosis. Tolvaptan was effective in normalizing plasma sodium and enabling liberalization of fluids to ensure sufficient nutritional intake and weight gain and manage hunger.
Conclusions
Hyponatremia due to SIADH is novel at presentation of a HH, and can be challenging to diagnose and manage. Successful management of hyponatremia in this case was achieved using tolvaptan.
Acknowledgments
We thank the patient and his family for consent to publish details of their medical case and accompanying images.
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Research funding: No specific funding for this study received. RJM is funded by an NIHR Academic Clinical Lectureship.
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Author contributions: Dr. Rebecca Moon contributed to the care of the patient, drafted the initial manuscript, critically reviewed, and revised the manuscript. Dr. Maisara Soliman, Dr. Lieke Hogenboom, Dr. Rodney Gilbert, Dr. Georgina Bird-Liebemann, Dr. Jaspal Singh, Prof Detlef Bockenhauer and Dr. Anitha Kumaran contributed to the care of the patient, critically reviewed, and revised the manuscript. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: RJM has received travel bursaries from Kyowa Kirin unrelated to the submitted work. MS, LH, RDG, GBL, JS, DB, AK have no competing interests to declare.
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Informed consent: Written informed consent was obtained from the patient’s parents for publication of the details of their medical case and the accompanying images.
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Ethical approval: Ethical approval not required.
References
1. Harrison, VS, Oatman, O, Kerrigan, JF. Hypothalamic hamartoma with epilepsy: review of endocrine comorbidity. Epilepsia 2017;58:50–9. https://doi.org/10.1111/epi.13756.Search in Google Scholar PubMed PubMed Central
2. Wang, AY, Wong, TT, Hsieh, KL, Tsai, ML, Yang, C. Giant cystic hypothalamic hamartoma in an infant associated with persistent syndrome of inappropriate antidiuretic hormone secretion. Childs Nerv Syst 2022;38:1593–7. https://doi.org/10.1007/s00381-021-05439-7.Search in Google Scholar PubMed
3. Bhandari, SS, Loke, I, Davies, JE, Squire, IB, Struck, J, Ng, LL. Gender and renal function influence plasma levels of copeptin in healthy individuals. Clin Sci 2009;116:257–63. https://doi.org/10.1042/cs20080140.Search in Google Scholar
4. Winberg, J. Determination of renal concentration capacity in infants and children without renal disease. Acta Paediatr 1959;48:318–28.10.1111/j.1651-2227.1959.tb17506.xSearch in Google Scholar
5. Alomari, SO, Houshiemy, MNE, Bsat, S, Moussalem, CK, Allouh, M, Omeis, IA. Hypothalamic hamartomas: a comprehensive review of the literature – part 1: neurobiological features, clinical presentations and advancements in diagnostic tools. Clin Neurol Neurosurg 2020;197:106076. https://doi.org/10.1016/j.clineuro.2020.106076.Search in Google Scholar PubMed
6. Culler, FL, James, HE, Simon, ML, Jones, KL. Identification of gonadotropin-releasing hormone in neurons of a hypothalamic hamartoma in a boy with precocious puberty. Neurosurgery 1985;17:408–12. https://doi.org/10.1097/00006123-198509000-00003.Search in Google Scholar PubMed
7. Refardt, J, Winzeler, B, Christ-Crain, M. Copeptin and its role in the diagnosis of diabetes insipidus and the syndrome of inappropriate antidiuresis. Clin Endocrinol 2019;91:22–32. https://doi.org/10.1111/cen.13991.Search in Google Scholar PubMed PubMed Central
8. Al Nofal, A, Hanna, C, Lteif, AN, Pittock, ST, Schwartz, JD, Brumbaugh, JE, et al.. Copeptin levels in hospitalized infants and children with suspected vasopressin-dependent disorders: a case series. J Pediatr Endocrinol Metab 2023;36:492–9. https://doi.org/10.1515/jpem-2022-0525.Search in Google Scholar PubMed
9. Evers, KS, Hügli, M, Fouzas, S, Kasser, S, Pohl, C, Stoecklin, B, et al.. Serum neurofilament levels in children with febrile seizures and in controls. Front Neurosci 2020;14:579958. https://doi.org/10.3389/fnins.2020.579958.Search in Google Scholar PubMed PubMed Central
10. Krishnan, S, Deshpande, S, Mallappa, A, Divya, G, Lane, P, Vishwanath, A, et al.. Management challenges in a child with chronic hyponatremia: use of V2 receptor antagonist. Case Rep Pediatr 2017;2017:3757423. https://doi.org/10.1155/2017/3757423.Search in Google Scholar PubMed PubMed Central
11. Higashi, K, Murakami, T, Ishikawa, Y, Itoi, T, Ohuchi, H, Kodama, Y, et al.. Efficacy and safety of tolvaptan for pediatric patients with congestive heart failure. Multicenter survey in the working group of the Japanese Society of PEdiatric Circulation and Hemodynamics (J-SPECH). Int J Cardiol 2016;205:37–42. https://doi.org/10.1016/j.ijcard.2015.12.003.Search in Google Scholar PubMed
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Articles in the same Issue
- Frontmatter
- Review
- Systematic literature review of the epidemiology of glycogen storage disease type 1a
- Original Articles
- Excessive weight gain among preschool children during the COVID-19 lockdown in China: a retrospective observational study
- Longitudinal assessment of bone health index as a measure of bone health in short-statured children before and during treatment with recombinant growth hormone
- First results of the growth disorders related twinning programme Partners4Growth implemented at the tertiary university pediatric endocrinology clinics in Bulgaria
- Predictive factors of catch-up growth in term, small for gestational age infants: a two-year prospective observational study in Algeria
- Glucose levels are not the same for everyone: a real-world big data study evaluating fasting serum glucose levels by sex and age among children
- The status and childcare management of overweight and obesity among preschool children in Hangzhou
- The relationship between metabolic syndrome criteria and pentraxin-3 levels in children
- Case Reports
- Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency
- Rickets in proximal renal tubular acidosis: a case series of six distinct etiologies
- Successful treatment of hypercalcemia in a Chinese patient with a novel homozygous mutation in the CYP24A1 gene using zoledronic acid: a case report
- A novel mutation in the AMHR2 gene, resulting in persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia
- Syndrome of inappropriate secretion of anti-diuretic hormone due to hypothalamic hamartoma: use of tolvaptan
- Letter to the Editor
- CD163+ and CD14+ macrophages are increased in obese children
