Hypothalamic hamartomas and seizures

Distinct natural history of isolated and pallister-hall syndrome cases

Eilis Boudreau, Kore Liow, Carol M. Frattali, Edith Wiggs, Joyce T. Turner, Penelope Feuillan, Susumu Sato, Athos Patsalides, Nicholas Patronas, Leslie G. Biesecker, William H. Theodore

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

Purpose: Hypothalamic hamartomas (HHs) have been associated with uncontrolled seizures, and aggressive therapy including surgery is often recommended. However, some patients, particularly those with other findings associated with Pallister-Hall syndrome (PHS), have a more benign course. Methods: Thirty-seven of 40 PHS patients and 16 of 16 patients with isolated HH had a lesion confirmed on magnetic resonance imaging (MRI). Records for all patients were reviewed for the following information: presence of seizures, age at seizure onset, seizure type, seizure frequency, number of antiepileptic medications (AEDs) at the time of evaluation, past AEDs, MRI characteristics of the HH, presence of endocrine dysfunction, and presence of developmental and behavioral problems. Results: All isolated HH patients had a history of seizures, compared with 13 of 40 PHS patients (all PHS patients with seizures had hamartomas). In isolated HH, seizures started earlier in life, occurred more frequently, and were harder to control than those in patients with PHS. Isolated HH patients were more likely to have behavioral and developmental problems than were PHS patients. The T2 signal of the hamartoma was isointense to gray matter in the majority of PHS patients, but showed a significant increase in all but one patient with isolated HH. Conclusions: Patients with isolated HH have a distinct clinical phenotype, showing more severe seizures and neurologic dysfunction, HH showing increased T2 signal, and are more likely to have precocious puberty. In contrast, PHS patients usually have well-controlled seizures and other endocrine disturbances than precocious puberty. Patients with HH with or without seizures should be evaluated carefully for other clinical manifestations of PHS, particularly before surgery is considered.

Original languageEnglish (US)
Pages (from-to)42-47
Number of pages6
JournalEpilepsia
Volume46
Issue number1
DOIs
StatePublished - Jan 2005
Externally publishedYes

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Pallister-Hall Syndrome
Natural History
Seizures
Precocious Puberty
Hamartoma
Hypothalamic hamartomas
Anticonvulsants
Magnetic Resonance Imaging

Keywords

  • Hall syndrome
  • Hypothalamic hamartoma
  • Pallister
  • Precocious puberty

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Hypothalamic hamartomas and seizures : Distinct natural history of isolated and pallister-hall syndrome cases. / Boudreau, Eilis; Liow, Kore; Frattali, Carol M.; Wiggs, Edith; Turner, Joyce T.; Feuillan, Penelope; Sato, Susumu; Patsalides, Athos; Patronas, Nicholas; Biesecker, Leslie G.; Theodore, William H.

In: Epilepsia, Vol. 46, No. 1, 01.2005, p. 42-47.

Research output: Contribution to journalArticle

Boudreau, E, Liow, K, Frattali, CM, Wiggs, E, Turner, JT, Feuillan, P, Sato, S, Patsalides, A, Patronas, N, Biesecker, LG & Theodore, WH 2005, 'Hypothalamic hamartomas and seizures: Distinct natural history of isolated and pallister-hall syndrome cases', Epilepsia, vol. 46, no. 1, pp. 42-47. https://doi.org/10.1111/j.0013-9580.2005.68303.x
Boudreau, Eilis ; Liow, Kore ; Frattali, Carol M. ; Wiggs, Edith ; Turner, Joyce T. ; Feuillan, Penelope ; Sato, Susumu ; Patsalides, Athos ; Patronas, Nicholas ; Biesecker, Leslie G. ; Theodore, William H. / Hypothalamic hamartomas and seizures : Distinct natural history of isolated and pallister-hall syndrome cases. In: Epilepsia. 2005 ; Vol. 46, No. 1. pp. 42-47.
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AU - Turner, Joyce T.

AU - Feuillan, Penelope

AU - Sato, Susumu

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AU - Patronas, Nicholas

AU - Biesecker, Leslie G.

AU - Theodore, William H.

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