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• Hypothalamic hamartomas: syndromes and surgery
  Leslie G Biesecker
  Published on: 2 June 2003

• Published on: 2 June 2003

  Hypothalamic hamartomas: syndromes and surgery

  • Leslie G Biesecker, Senior Investigator

  Dear Editor

  The recent article by Ng et al. and the accompanying commentary [1] address the notion that girls with precocious puberty should undergo cranial imaging to exclude a CNS malformation.

  One consideration not discussed in that article or the commentary is that hypothalamic hamartomas can be part of a malformation syndrome, most commonly Pallister -Hall syndrome.[2] Because this disorder can b...

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  Dear Editor

  The recent article by Ng et al. and the accompanying commentary [1] address the notion that girls with precocious puberty should undergo cranial imaging to exclude a CNS malformation.

  One consideration not discussed in that article or the commentary is that hypothalamic hamartomas can be part of a malformation syndrome, most commonly Pallister -Hall syndrome.[2] Because this disorder can be subtle (minimal post- axial polydactyly with metacarpal fusion, bifid epiglottis, and anal stenosis) it can be missed. The disorder is inherited in an autosomal dominant pattern, so the recurrence risks may be substantial. Conversely, if a child with any of these anomalies develops precocious puberty, there is no doubt that cranial imaging is indicated.[3]

  The issue of surgery for hypothalamic hamartomas is challenging. My experience with Pallister-Hall syndrome combined with published data on children with non-syndromic hypothalamic hamartomas [4] show that these lesions are malformations, not tumors. No patients in these series have experienced visual axis compromise in spite of having enormous hamartomas, some as large as 4 cm and associated with developmental distortion of the optic tracts and chiasm. In several instances, I have urged families to refuse planned surgical interventions and these children have done well. Although the commentary focuses on the cost of the MRIs, the greater cost may be that of unnecessary neurosurgery and its subsequent morbidity, sometimes including lifelong hormonal replacement. Avoiding one unnecessary neurosurgical procedure may save more than the cost of 100 MRIs.

  Note: The opinion expressed here is that of the author and does not necessarily represent the opinion of the institutions with which he is affiliated.

  References

  (1) Ng SM, Kumar Y, Cody D, et al. Cranial MRI scans are indicated in all girls with central precocious puberty. Arch Dis Child 2003 88(5): 414-417.

  (2) Biesecker LG, Graham JM Jr. Pallister-Hall syndrome. J Med Genet 1996 Jul;33(7):585-9.

  (3) Biesecker LG, Abbott M, Allen J, et al. Report from the workshop on Pallister-Hall syndrome and related phenotypes. Am J Med Genet 1996 Oct 2;65(1):76-81.

  (4) Feuillan PP, Jones JV, Barnes KM, et al. Boys with precocious puberty due to hypothalamic hamartoma: reproductive axis after discontinuation of gonadotropin-releasing hormone analog therapy. J Clin Endocrinol Metab 2000 Nov;85(11):4036-8.

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  Conflict of Interest:
  None declared.

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