Hypothalamic hamartomas associated with epilepsy: Ultrastructural features

Journal of Neuropathology and Experimental Neurology

Volumn 67, Issue 7, 2008, Pages 657-668

  Beggs, John ^a   Nakada, Satoko ^a   Fenoglio, Kristina ^b   Wu, Jie ^b   Coons, Stephen ^a   Kerrigan, John F ^b  

^a Division of Neuropathology

^b BARROW NEUROLOGICAL INSTITUTE   (United States)

Author keywords

Electron microscopy; Epilepsy; Gelastic seizure; Hypothalamic hamartoma; Pathology; Ultrastructure

Indexed keywords

ANTICONVULSIVE AGENT; GLYCOGEN;

ADOLESCENT; ADULT; ARTICLE; ASTROCYTE; BENIGN CHILDHOOD EPILEPSY; CELL FUNCTION; CELL STRUCTURE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DENDRITE; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE DURATION; ELECTRON MICROSCOPY; ELECTROPHYSIOLOGY; FEMALE; GELASTIC SEIZURE; GLIA CELL; GROWTH RETARDATION; HAMARTOMA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOTHALAMIC HAMARTOMA; MALE; MENTAL DEFICIENCY; MYELINATION; NERVE FIBER; NEUROPIL; NISSL SUBSTANCE; PERIKARYON; POLYSOME; POSTSYNAPTIC INHIBITION; PRESCHOOL CHILD; PRESYNAPTIC NERVE; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SYNAPSE; SYNAPTIC INHIBITION; ULTRASTRUCTURE; BIOLOGICAL MODEL; BLOOD VESSEL; COMPUTER ASSISTED DIAGNOSIS; EPILEPSY; HYPOTHALAMUS; HYPOTHALAMUS DISEASE; INFANT; METHODOLOGY; NERVE CELL; PATHOLOGY; TRANSMISSION ELECTRON MICROSCOPY;

ADOLESCENT; ADULT; BLOOD VESSELS; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, COMPUTER-ASSISTED; EPILEPSY; FEMALE; HAMARTOMA; HUMANS; HYPOTHALAMIC DISEASES; HYPOTHALAMUS; INFANT; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MODELS, NEUROLOGICAL; NEURONS; NEUROPIL;

EID: 52049121343     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/NEN.0b013e31817d8085     Document Type: Article

References (57)

1. Boyko OB, Curnes JT, Oakes WJ, et al. Hamartomas of the tuber cinereum: CT, MR, and pathologic findings. AJNR Am J Neuroradiol 1991;12:309-14
2. Valdueza JM, Cristante L, Dammann O, et al. Hypothalamic hamartomas: With special reference to gelastic epilepsy and surgery. Neurosurgery 1994;34:949-58
3. Arita K, Ikawa F, Kurisu K, et al. The relationship between magnetic resonance imaging findings and clinical manifestations of hypothalamic hamartoma. J Neurosurg 1999;91:212-20
4. Jung H, Neumaier PE, Hauffa BP, et al. Association of morphological characteristics with precocious puberty and/or gelastic seizures in hypothalamic hamartoma. J Clin Endocrinol Metab 2003;88:4590-95
5. Freeman JL, Coleman LT, Wellard RM, et al. MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: Analysis of 72 cases. AJNR Am J Neuroradiol 2004;25:450-62
6. Berkovic SF, Andermann F, Melanson D, et al. Hypothalamic hamartomas and ictal laughter: Evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging. Ann Neurol 1988;23:429-39
7. Arzimanoglou AA, Hirsch E, Aicardi J. Hypothalamic hamartoma and epilepsy in children: Illustrative cases of possible evolutions. Epileptic Disord 2003;5:187-99
8. Brandberg G, Raininko R, Eeg-Olofsson O. Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents. Eur J Paediatr Neurol 2004;8:35-44
9. Nguyen D, Singh S, Zaatreh M, et al. Hypothalamic hamartomas: Seven cases and review of the literature. Epilepsy Behav 2003;4:246-58
10. Deonna T, Ziegler AL. Hypothalamic hamartoma, precocious puberty and gelastic seizures: A special model of "epileptic" developmental disorder. Epileptic Disord 2000;2:33-37
11. Kahane P, Tassi L, Hoffmann D, et al. Crises dacrystiques et hamatome hypothalamique. A propos d'une observation video-stereo-EEG. Epilepsies 1994;6:259-79
12. Kuzniecky R, Guthrie B, Mountz J, et al. Intrinsic epileptogenesis of hypothalamic hamartomas in gelastic epilepsy. Ann Neurol 1997;42: 60-67
13. Palmini A, Chandler C, Andermann F, et al. Resection of the lesion in patients with hypothalamic hamartomas and catastrophic epilepsy. Neurology 2002;58:1338-47
14. Leal AJ, Passao V, Calado E, et al. Interictal spike EEG source analysis in hypothalamic hamartoma epilepsy. Clin Neurophysiol 2002;113:1961-69
15. Arroyo S, Santamaria J, Sanmarti F, et al. Ictal laughter associated with paroxysmal hypothalamopituitary dysfunction. Epilepsia 1997;38: 114-17
16. Palmini A, Van PW, Dupont P, et al. Status gelasticus after temporal lobectomy: Ictal FDG-PET findings and the question of dual pathology involving hypothalamic hamartomas. Epilepsia 2005;46:1313-16
17. Berkovic SF, Kuzniecky RI, Andermann F. Human epileptogenesis and hypothalamic hamartomas: New lessons from an experiment of nature.Epilepsia 1997;38:1-3
18. Berkovic SF, Arzimanoglou A, Kuzniecky R, et al. Hypothalamic hamartoma and seizures: A treatable epileptic encephalopathy. Epilepsia 2003;44:969-73
19. Kerrigan JF, Ng YT, Chung S, et al. The hypothalamic hamartoma: A model of subcortical epileptogenesis and encephalopathy. Semin Pediatr Neurol 2005;12:119-31
20. Coons SW, Rekate HL, Prenger EC, et al. The histopathology of hypothalamic hamartomas: Study of 57 cases. J Neuropathol Exp Neurol 2007;66:131-41
21. Wu J, Xu L, Kim DY, et al. Electrophysiological properties of human hypothalamic hamartomas. Ann Neurol 2005;58:371-82
22. Kim DY, Fenoglio KA, Simeone TA, et al. GABA(A) receptor-mediated activation of L-type calcium channels induces neuronal excitation in surgically resected human hypothalamic hamartomas. Epilepsia 2008;49:861-71
23. Delalande O, Fohlen M. Disconnecting surgical treatment of hypothalamic hamartoma in children and adults with refractory epilepsy and proposal of a new classification. Neurol Med Chir (Tokyo) 2003;43:61-68
24. Reynolds ES. The use of lead citrate at high pH as an electron-opaque stain in electron microscopy. J Cell Biol 1963;17:208-12
25. Schwarz GA, Yanoff M. Lafora's disease. Distinct clinico-pathologic form of Unverricht's syndrome. Arch Neurol 1965;12:172-88
26. Odor DL, Janeway R, Pearce LA, et al. Progressive myoclonus epilepsy with Lafora inclusion bodies. II. Studies of ultrastructure. Arch Neurol 1967;16:583-94
27. Babb TL, Kupfer WR, Pretorius JK, et al. Synaptic reorganization by mossy fibers in human epileptic fascia dentata. Neuroscience 1991;42:351-63
28. Blumcke I, Zuschratter W, Schewe JC, et al. Cellular pathology of hilar neurons in Ammon's horn sclerosis. J Comp Neurol 1999;414:437-53
29. Garbelli R, Munari C, De BS, et al. Taylor's cortical dysplasia: A confocal and ultrastructural immunohistochemical study. Brain Pathol 1999;9:445-61
30. Alonso-Nanclares L, Garbelli R, Sola RG, et al. Microanatomy of the dysplastic neocortex from epileptic patients. Brain 2005;128:158-73
31. Cavazos JE, Zhang P, Qazi R, et al. Ultrastructural features of sprouted mossy fiber synapses in kindled and kainic acid-treated rats. J Comp Neurol 2003;458:272-92
32. Sloviter RS, Zappone CA, Harvey BD, et al. WDormant basket cellW hypothesis revisited: Relative vulnerabilities of dentate gyrus mossy cells and inhibitory interneurons after hippocampal status epilepticus in the rat. J Comp Neurol 2003;459:44-76
33. Judge DM, Kulin HE, Page R, et al. Hypothalamic hamartoma: A source of luteinizing-hormone-releasing factor in precocious puberty. N Engl J Med 1977;296:7-10
34. Hochman HI, Judge DM, Reichlin S. Precocious puberty and hypothalamic hamartoma. Pediatrics 1981;67:236-44
35. Price RA, Lee PA, Albright AL, et al. Treatment of sexual precocity by removal of a luteinizing hormone-releasing hormone secreting hamartoma.JAMA 1984;251:2247-49
36. Nishio S, Fujiwara S, Aiko Y, et al. Hypothalamic hamartoma. Report of two cases. J Neurosurg 1989;70:640-45
37. Inoue HK, Kanazawa H, Kohga H, et al. Hypothalamic hamartoma: Anatomic, immunohistochemical and ultrastructural features. Noshuyo Byori 1995;12:45-51
38. Seyama S, Pearl GS, Takei Y. Ultrastructural study of the human neurohypophysis. I. Neurosecretory axons and their dilatations in the pars nervosa. Cell Tissue Res 1980;205: 253-71
39. Seyama S, Pearl GS, Takei Y. Ultrastructural study of the human neurohypophysis. III. Vascular and perivascular structures. Cell Tissue Res 1980;206:291-302
40. Beggs J, Jordan S, Ericson AC, et al. Synaptology of trigemino- and spinothalamic lamina I terminations in the posterior ventral medial nucleus of the macaque. J Comp Neurol 2003;459:334-54
41. Nieuwenhuys R. The neocortex. An overview of its evolutionary development, structural organization and synaptology. Anat Embryol (Berl) 1994;190:307-37
42. Beaulieu C, Colonnier M. A laminar analysis of the number of roun-asymmetrical and flat-symmetrical synapses on spines, dendritic trunks, and cell bodies in area 17 of the cat. J Comp Neurol 1985;231:180-89
43. DeMoor J. La mecanisme et la signification de l'etat moniliformedes neurons. Ann Soc R Sci Med Nat Brux 1898;7:205-50
44. Isokawa M, Levesque MF. Increased NMDA responses and dendritic degeneration in human epileptic hippocampal neurons in slices. Neurosci Lett 1991;132:212-16
45. Isokawa M, Levesque M, Fried I, et al. Glutamate currents in morphologically identified human dentate granule cells in temporal lobe epilepsy. J Neurophysiol 1997;77:3355-69
46. Multani P, Myers RH, Blume HW, et al. Neocortical dendritic pathology in human partial epilepsy: A quantitative Golgi study. Epilepsia 1994;35:728-36
47. Sloviter RS. "Epileptic" brain damage in rats induced by sustained electrical stimulation of the perforant path. I. Acute electrophysiological and light microscopic studies. Brain Res Bull 1983;10:675-97
48. Olney JW, deGubareff T, Sloviter RS. "Epileptic" brain damage in rats induced by sustained electrical stimulation of the perforant path. II. Ultrastructural analysis of acute hippocampal pathology. Brain Res Bull 1983;10:699-712
49. Swann JW, Al-Noori S, Jiang M, et al. Spine loss and other dendritic abnormalities in epilepsy. Hippocampus 2000;10:617-25
50. Al-Noori S, Swann JW. A role for sodium and chloride in kainic acid-induced beading of inhibitory interneuron dendrites. Neuroscience 2000;101:337-48
51. Ventura R, Harris KM. Three-dimensional relationships between hippocampal synapses and astrocytes. J Neurosci 1999;19:6897-906
52. Cavazos JE, Sanchez R. Pathophysiology of seizures and epilepsy. In: Rho JM, Sankar R, Cavazos JE, eds. Epilepsy: Scientific Foundations of Clinical Practice. New York, NY: Marcel Dekker, 2004;5-20
53. Dudek FE, Yasumura T, Rash JE. 'Non-synaptic' mechanisms in seizures and epileptogenesis. Cell Biol Int 1998;22:793-805
54. Matthews GC. The dual roles of GABA in seizures and epilepsy generate more excitement. Epilepsy Curr 2007;7:28-30
55. Klaassen A, Glykys J, Maguire J, et al. Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy. Proc Natl Acad Sci U S A 2006;103:19152-57
56. Wu J, Chang Y, Li G, et al. Electrophysiological properties and subunit composition of GABAA receptors in patients with gelastic seizures and hypothalamic hamartoma. J Neurophysiol 2007;98:5-15
57. Fenoglio KA, Wu J, Kim DY, et al. Hypothalamic hamartoma: Basic mechanisms of intrinsic epileptogenesis. Semin Pediatr Neurol 2007;14:51-59