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Giant cystic hypothalamic hamartoma in an infant associated with persistent syndrome of inappropriate antidiuretic hormone secretion

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Abstract

Background

A giant hypothalamic hamartoma (GHH) is a rare congenital malformation only reported in a few cases in the literature and is often associated with precocious puberty, gelastic seizures, or less commonly, Pallister-Hall syndrome. Persistent syndrome of inappropriate antidiuretic hormone secretion (SIADH) is very rare in infancy, and most patients with GHH do not develop persistent SIADH, usually only transient electrolyte disturbances postoperatively. Previous cases of GHH have not been associated with persistent derangements in antidiuretic hormone levels.

Case description

A 7-month-old male infant presented to our hospital with a history of an intracranial cystic lesion diagnosed at 23 weeks gestational age (GA), later impressed as a solid-cystic mass at 37 weeks GA by ultrasound prenatally. Postnatal MRI after birth showed a large mass with a dorsal cyst occupying the hypothalamus, causing hydrocephalus and brainstem compression. The patient started to have subtle seizures on the seventh day after birth and eventually developed dacrystic seizures. Hyponatremia with persistent SIADH was observed at 3 months of age before surgery. He received long-term oral sodium supplementation, polytherapy of anti-epileptic medications, ventriculocystostomy for progressive enlargement of the cystic cavity, and later surgical treatment for disconnection and partial resection which confirmed a histological diagnosis of hypothalamic hamartoma.

Conclusion

In this case study, we present a novel association of GHH with persistent SIADH and a rare presentation of a cystic component at the dorsal part of the tumor. Clinicians should be aware of this potential endocrine derangement and provide emergent treatment.

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References

  1. Alves C, Barbosa V, Machado M (2013) Giant hypothalamic hamartoma: case report and literature review. Childs Nerv Syst 29(3):513–516

    Article  Google Scholar 

  2. Guibaud L, Rode V, Saint-Pierre G, Pracros JP, Foray P, Tran-Minh VA (1995) Giant hypothalamic hamartoma: an unusual neonatal tumor. Pediatr Radiol 25(1):17–18

    Article  CAS  Google Scholar 

  3. Cristobal A, Vorona G, Ritter A, Lanni S, Urbine J (2020) Pre- and postnatal MR imaging of an asymptomatic giant hypothalamic hamartoma. Radiol Case Rep 15(8):1250–1255

    Article  Google Scholar 

  4. Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC, Cho S, Benke PJ, Reed SD (1980) Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly— a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet 7(1):47–74

    Article  CAS  Google Scholar 

  5. Guimiot F, Marcorelles P, Aboura A, Bonyhay G, Patrier S, Menez F, Drouin-Garraud V, Icowick V, Eurin D, Garel C, Moirot H, Verspyck E, Saugier-Veber P, Attie-Bitach T, Picone O, Oury JF, Verloes A, Delezoide AL, Laquerrière A (2009) Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A 149A(6):1108–1115. https://doi.org/10.1002/ajmg.a.32859 (PMID: 19449422)

    Article  PubMed  Google Scholar 

  6. van der Lee D, de Bruin C, Steggerda SJ, Vlaardingerbroek H (2020) Idiopathic SIADH in the premature newborn, a case report. J Neonatal Perinatal Med 13(2):283–285. https://doi.org/10.3233/NPM-180149.PMID:31707375;PMCID:PMC7369120

    Article  PubMed  PubMed Central  Google Scholar 

  7. Zieg J (2017) Pathophysiology of hyponatremia in children. Front Pediatr 5: 213. Published online 2017 Oct 16. https://doi.org/10.3389/fped.2017.00213

  8. Bret J, Skodová I (1986) Ventriculocystostomy. A new method of percutaneous intracranial shunting. Acta Radiol Suppl 369:631–633 (PMID: 2980579)

    CAS  PubMed  Google Scholar 

  9. López-Laso E, González ME, León RC, González MD, Rodríguez JE (2007) Giant hypothalamic hamartoma and dacrystic seizures. Epileptic Disord 9(1):90–93. https://doi.org/10.1684/epd.2007.0068 (Epub 2007 Feb 15 PMID: 17307718)

    Article  PubMed  Google Scholar 

  10. Kahane P, Ryvlin P, Hoffmann D, Minotti L, Benabid AL (2003) From hypothalamic hamartoma to cortex: what can be learnt from depth recordings and stimulation? Epileptic Disord 5(4):205–217 (PMID: 14975789)

    PubMed  Google Scholar 

  11. Dorfer C, Kasprian G, Mühlebner A, Czech T (2011) Giant solid-cystic hypothalamic hamartoma. Case report Neurosurg Focus 30(2):E7. https://doi.org/10.3171/2011.1.FOCUS10240 (PMID: 21284453)

    Article  PubMed  Google Scholar 

  12. Lee JY, Yoon HK, Khang SK (2016) Giant hypothalamic hamartoma associated with an intracranial cyst in a newborn. Ultrasonography 35(4):353–358. https://doi.org/10.14366/usg.15080

    Article  PubMed  PubMed Central  Google Scholar 

  13. Prasad S, Shah J, Patkar D, Gala B, Patankar T (2000) Giant hypothalamic hamartoma with cystic change: report of two cases and review of the literature. Neuroradiology 42(9):648–650. https://doi.org/10.1007/s002340000350 (PMID: 11071436)

    Article  CAS  PubMed  Google Scholar 

  14. Isaacs H Jr (2016) Perinatal (fetal and neonatal) astrocytoma: a review. Childs Nerv Syst 32(11):2085–2096. https://doi.org/10.1007/s00381-016-3215-y

    Article  PubMed  PubMed Central  Google Scholar 

  15. Chen CP (2007) Prenatal diagnosis of arachnoid cysts. Taiwan J Obstet Gynecol 46(3):187–198. https://doi.org/10.1016/S1028-4559(08)60020-0 (PMID: 17962096)

    Article  PubMed  Google Scholar 

  16. Gabel BC, Yoon J, Levy ML, Crawford JR (2014) A diffuse intrinsic pontine glioma in a neonate diagnosed by MRI. BMJ Case Rep 2014:bcr2013202270. https://doi.org/10.1136/bcr-2013-202270. PMID: 24448472; PMCID: PMC3902521

  17. Ellison DH, Berl T (2007) Clinical practice. The syndrome of inappropriate antidiuresis. N Engl J Med 356(20):2064–2072. https://doi.org/10.1056/NEJMcp066837. PMID: 17507705

  18. Kim DK, Joo KW (2009) Hyponatremia in patients with neurologic disorders. Electrolyte Blood Press 7(2):51–57. https://doi.org/10.5049/EBP.2009.7.2.51. Epub 2009 Dec 31. PMID: 21468186; PMCID: PMC3041486

  19. Tuli G, Tessaris D, Einaudi S, De Sanctis L, Matarazzo P (2017) Tolvaptan Treatment in children with chronic hyponatremia due to inappropriate antidiuretic hormone secretion: a report of three cases. J Clin Res Pediatr Endocrinol 9(3):288–292. https://doi.org/10.4274/jcrpe.4531. Epub 2017 May 17. PMID: 28515029; PMCID: PMC5596813

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Acknowledgements

We thank Dr. Pi-Lien Hung and Dr. Mei-Hsin Hsu at the Division of Pediatric Neurology, Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital for performing initial workups and Dr. Stephanie Puget for performing surgery in Necker-Enfants Malades Hospital, Paris, France. The authors thank the patient’s family for their support.

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Authors and Affiliations

  1. Tufts University School of Medicine, Boston, MA, USA

    Andy Yu-Der Wang

  2. Division of Pediatric Neurosurgery, Department of Neurosurgery, Taipei Medical University Hospital, Taipei Medical University, Taipei, Taiwan

    Tai-Tong Wong

  3. Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan

    Tai-Tong Wong

  4. Department of Medical Imaging, Taipei Medical University Hospital, Taipei, Taiwan

    Kevin Li-Chun Hsieh

  5. Department of Radiology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan

    Kevin Li-Chun Hsieh

  6. Division of Pediatric Neurology, Department of Pediatrics, Taipei Medical University Hospital, Taipei Medical University, 252 Wuxing St, Taipei, 11031, Taiwan

    Min-Lan Tsai

  7. Department of Pediatrics, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan

    Min-Lan Tsai & Chen Yang

  8. Department of Pediatrics, Taipei Medical University Hospital, Taipei Medical University, Taipei, Taiwan

    Chen Yang

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  1. Andy Yu-Der Wang
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  2. Tai-Tong Wong
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  3. Kevin Li-Chun Hsieh
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  4. Min-Lan Tsai
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  5. Chen Yang
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Corresponding author

Correspondence to Min-Lan Tsai.

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Ethics approval

We obtained ethical approval for this case study (TMU-JIRB no. N202107091). We have obtained permission for the publication from the guardian.

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The authors declare no competing interests.

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Wang, A.YD., Wong, TT., Hsieh, K.LC. et al. Giant cystic hypothalamic hamartoma in an infant associated with persistent syndrome of inappropriate antidiuretic hormone secretion. Childs Nerv Syst 38, 1593–1597 (2022). https://doi.org/10.1007/s00381-021-05439-7

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  • DOI: https://doi.org/10.1007/s00381-021-05439-7

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