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A review of the neuropathological findings in 50 personal autopsy cases and in the
available literature (214 confirmed cases) of infantile spasms demonstrates that this
type of early infantile epilepsy occurs in a wide range of cerebral lesions caused
by various noxae during different stages of brain development. With regard to morphology
and the presumed time of occurrence of the CNS lesions, four groups can be distinguished:
(1) embryofetal lesions, including a) cerebral malformations or developmental disorders
-agyria-pachygyria (lissencephaly), micrencephaly, micropolygyrias, (hemi)megalencephaly,
agenesis of corpus callosum, tuberous sclerosis, heterotopias, cortical microdysplasias,
b) metabolic disorders (leukodystrophies, neurolipidoses, spongy dystrophies, Leigh
and Alpers diseases, aminoacidopathies); (2) perinatal and postnatal encephalopathies,
e.g. polycystic brain, diffuse and lobar sclerosis, ulegyrias, white matter and basal
ganglia scars, status marmoratus, hippocampal sclerosis, and cerebellar atrophy; (3)
combined embryofetal (developmental) and perinatal or postnatal brain lesions, particularly
association of microdysplasias with secondary anoxic or vascular changes; (4) acute
vascular and inflammatory brain injuries; (5) cases without definite brain pathology.
Evaluation of the available, data indicates that embryo-fetal lesions alone or accompanied
and/or superimposed by perinatal or postnatal lesions account for about 61% of the
cases confirmed by autopsy, in which infantile spasms can be regarded as fetal epilepsies,
while a smaller group is featured by perinatal or postnatal lesions occurring in early
age, i.e. affecting the immature brain. Similar lesions are observed in cases showing
transition of West syndrome to Lennox syndrome. Negative pathology findings in a small
number of cases do not necessarily implicate negative pathobiology. Infantile spasms
are considered a non-specific but age-related reaction of the infantile brain to a
variety of noxae causing heterogeneous structural lesions, the time of onset depending
on the manifestation time of the brain lesions.
Infantile spasms
Key Words
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References
- Neuropathologies aspects of hypsarrhythmia.Neuropaediatrie. 1970; 1: 277-294
- Morphological aspects of aetiology and the course of infantile spasms (West syndrome).Neuropediatrics. 1985; 16: 59-66
- Bericht über vier Fälle mit der Kombination Epilepsie-Paramyoclonus multiplex.Z Neurol Psychiatrie. 1911; 7: 108-205
- A long-term follow up study of 214 children with the syndrome of infantile spasms.Neuropediatrics. 1982; 13: 14-23
Riikonen R. Pers. communication 1985.
- Gibt es idiopathische BNS-Krämpfe?.in: Remschmidt H Rentz R Jungmann J Epilepsie 1980. Georg Thieme, Stuttgart-New York1981: 245-252
- EEG and histopathology of 11 children with infantile spasms.Electroencephalogr Clin Neurophysiol. 1962; 14: 283
- Quantitative analysis of a brain biopsy from a patient with Lennox syndrome.in: Abstr XIII Int Epilepsy Congress Kyoto. Raven Press, New York1981: 247
- Ultrastructural study of 3 cases of encephalopathy with hypsarrhythmia. Similarities of lesions with subacute spongioform encephalopathies.Acta Neuropathol (Berl). 1982; 56: 311-314
- Agyria-pachygyria (lissencephaly syndrome).Neuropediatrics. 1976; 7: 66-91
- Lissencephaly: two cases.Neurology (Minneap). 1966; 16: 179-191
- Syndromes with lissencephaly: I: Miller-Dieker and Norman-Roberto syndromes and isolated lissencephaly.Am J Med Genet. 1984; 18: 509-526
- Mechanical model of brain convolutional development.Science. 1975; 189: 18-21
- Schizencephalics. A study of congenital cells in the cerebral mantle. II: Clefts with hydrocephalus and lips separated.J Neuropathol Exp Neurol. 1946; 5: 169-206
- Alobäre Holoprosencephalie (Arhinen-cephalie) mit medianer Lippenkieferspalte und normalem Karytyp.Zentralbl Allg Pathol. 1971; 114: 173-184
- Holoprosencephaly and agenesis of corpus callosum. Frequency of associated malformations.Acta Neuropathol (Berl). 1981; 55: 1-10
- Aicardi's syndrome. Report of an autopsy case.Neuropediatrics. 1981; 12: 279-286
- A Golgi study of the polymicrogyric cortex in Aicardi syndrome.Brain Dev (Tokyo). 1986; 8: 518-525
- Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome).Neurology. 1976; 26: 1152-1158
- Hamartoblastome (gangliocytome diffuse) unilateral de l'écorce cérébrale.Rev Neurol (Paris). 1969; 120: 307-318
- Unilateral megalencephaly; Hamartoma or neoplasma.Neurology. 1975; 25: 448-453
- Infantile spasms associated with hemihypsarrhythmia and hemimegalencephaly.Dev Med Child Neurol. 1978; 20: 779-798
- Encephalopathie myoclonique infantile avec hy-psarrhythmie (syndrome de West) et sclérose tubereuse de Bourneville.J Neurol Sci. 1965; 2: 140-150
- West's syndrome (infantile spasma)-a polymyographic study.Arch Dis Child. 1964; 39: 571-575
- Tuberous sclerosis in children: an EEG study.Dev Med Child Neurol. 1964; 6: 149-157
- Neuropathological findings in primary generalized epilepsy. A study of eight cases.Epilepsia. 1984; 25: 8-21
- Anatomische Studie über die Ammonshornsklerose im Epileptikergehirn.Dtsch Z Nervenheilk. 1970; 197: 293-314
Veith G, Wicke R. Cerebrale Differenzierungsstörungen bei Epilepsie. In: Jahrbuch 1968, Landesamt für Forschung Nordrhein-Westfalen, 1968:515–334.
- Dendritic development in neocortex of children with mental defect and infantile spasms.Neurology (Minneap). 1974; 24: 203-210
- Abnormal neuronal differentiation (functional maturation) in mental retardation.Birth Defects. 1975; 9: 133-153
- Familial infantile spasms and hypsarrhythmia associated with leukodystrophy.J Neurol Neurosurg Psychiatry. 1966; 29: 129-134
- Structural manifestations of leukodystrophies.Neuropediatrics. 1984; 15: 53-61
- Demyelinating leukodystrophy with total cortical cerebral atrophy.Arch Neurol (Chic). 1968; 18: 122-133
- Sudanophilic leukodystrophy with meningeal angiomatosis in two brothers: infantile form of diffuse sclerosis with meningeal angiomatosis.J Neurol Sci. 1965; 2: 30-51
- Globoid cell leukodystrophy (Krabbe's disease).Neurology. 1971; 21: 337-352
- The isolated human cortex; A Golgi analysis of Krabbe's disease.Arch Neurol. 1979; 36: 134-139
- Krabbe's disease: clinical presentation of neurological variants.Neuropediatrics. 1984; 15: 11-15
- Autopsy findings in three cases of hypsarrhythmia (infantile spasms with mental retardation).Acta Paediatr (Uppsala). 1960; 49: 695-706
- Über das Syndrom der Blitz-Nick-Salaam-Krämpfe und seine Behandlung mit ACTH und Hydrocortison. II. Zwischenbilanz.Helv Paediatr Acta. 1961; 6: 244-266
- Leigh's subacute necrotizing eneephalomyelopathy in a child with infantile spasms and hypsarrhythmia.Dev Med Child Neurol. 1970; 12: 430-435
- Observation anatomoclinique d’une séquelle d'encéphalopathie aigue. Spasme infantile avec hypsarythmie.Rev Neurol (Paris). 1968; 142: 524-529
- Neuropathological studies of West syndrome (in Japanese).Shinkei Kenkyu No Shimpo (Tokyo). 1983; 27: 636-645
- Cortical subacute necrotizing eneephalomyelopathy. A study of two patients with mitochondrial dysfunction.Neuropediatrics. 1984; 15: 150-158
- Cytochrome C oxidase deficiency in two siblings with Leigh eneephalomyelopathy.Brain Dev (Tokyo). 1984; 6: 362-372
- Diffuse cerebral degeneration in infancy (Alpers disease).Arch Dis Child. 1963; 38: 193-204
- Poliodysplasia cerebri.Acta Psychiatr Scand. 1953; 28: 127-143
- Progressive degeneration of the cerebral cortex in infancy.Brain. 1968; 91: 261-280
- Progressive neuronal degeneration of childhood with liver disease.Brain. 1986; 109: 181-206
- Familiäres Syndrom des Säuglingsalters mit Myoklonie (Blitz-Nick-Krämpfen), Hypsarrhythmie und schwerem psychomotorischem Entwicklungsrückstand.Psychiatr Neurol Neurochir (Amst). 1961; 64: 133-148
- Glycine encephalopathy.Neuropediatrics. 1979; 10: 209-225
- Nicht-ketotische Hyperglycinämie.Z Kinderheilk. 1974; 116: 95-114
- The neuropathology of the nonketotic and ketotic hyperglycinemias: three cases.Neurology. 1978; 28: 139-146
- Morphologic and histoanatomic observations of the brain in untreated human phenylketonuria.Acta Neuropathol (Berl). 1982; 58: 55-63
- The origin of infantile spasms: evidence for a case of hydranencephaly.Dev Med Child Neurol. 1971; 14: 644-646
- Infantile spasms with hypsarrhythmia: a pathological study.Helv Paediatr Acta. 1964; 4: 326-342
- Neuropathological findings in children with infantile spasms and hypsarrhythmia.Dan Med Bull. 1960; 7: 121-127
- Morphologische Aspekte der Epilepsien. Springer, Berlin-Göttingen-Heidelberg1963
- Infantile spasms. A case report with clinical and pathologic correlation.Neurology. 1962; 12: 351-360
- Die Propulsiv-Petit-Mal-Epilepsie. Klinik und Verlauf der sog. Blitz-Nick-Salaam-Krämpfe.Ann Paediatr (Basel). 1955; 60
- Etude anatomopathologique.in: Gastaut H Roger J Soulayrol R Pinsard M L’Encéphalopathie myoclonique infantile avec hypsarrhythmie (syndrome de West). Masson, Paris1964: 151-168
- Contribuicao ao estudo da hipsarritmia.Arch Neuro-psiquiatr (S Paola). 1966; 24: 15-27
- Neuropathological findings in eight cases of infantile spasms with hypsarrhythmia.Dev Med Child Neurol. 1965; 7: 707-708
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