Neurodegenerative diseases of infancy and childhood

Abstract

The neurodegenerative diseases of infancy and childhood include disorders in which there is progressive loss of neurological function due to structural abnormalities of the central nervous system. Well over six hundred disorders, many of which are rarely seen, can be included in this category. Yet, the conditions represent collectively over one-fourth of all admissions to pediatric neurology services. Five-year samples of admission characteristics of 1218 patients from two medical centers over twenty-two years permit an estimate of the frequency of the neurodegenerative diseases. The six most-encountered diagnoses, in declining order, were: subacute sclerosing panencephalitis; neuronal ceroid lipofuscinosis; tuberous sclerosis with degeneration; West disease, or idiopathic degenerative encephalopathy associated with infantile spasms; Werdnig-Hoffmann disease, and hereditary spastic paraplegia. A classification is offered grouping the neurodegenerative disorders into five major categories: polioencephalopathies, leukoencephalopathies, corencephalopathies, spinocerebellopathies, and diffuse encephalopathies. Disorders in each subgroup may be either genetic or nongenetic. Neurodegenerative diseases have multiple causes, including metabolic, viral, immunopathic, environmental, and epileptogenic. The cause of many remains unknown.

The nosologic panorama of progressive ataxia in Swedish children

“…With such defective etiological knowledge it is not surprising that the various ambitious classification systems tried, seem to be of a very limited practical use and not seldom even misleading. We tried the extensive classification proposal for neurodegenerative diseases of infancy and childhood by Dyken and Kraviecki (47), but have found it more complicated than useful. We were more attracted by that of Harding (8) for progressive ataxias, but found her classification mainly applicable to children of school age, but not very useful for the complex patterns at a lower age.…”

Brainstem auditory evoked potentials in children with neurodegenerative diseases

“…Sixteen Japanese children with central nervous system degenerative diseases were subgrouped according to Dyken and Krawiecki's classification of degenerative diseases [3] as follows; (1) Polioeneephalopathies: Menkes disease 1 case, and GMl-gangliosidosis 1, (2) leukoencephalopathies: adrenoleukodystrophy (ALD) 2, subacute sclerosing panencephalitis (SSPE) 2, metachromatic leukodystrophy (MLD) 1, Schilder disease 1, Cockayne syndrome 1 and Farber disease 1, (3) corencephalopathies: Wilson disease 2, Hallervorden-Spatz disease 1, Leigh encephalopathy 1 and Ramsay-Hunt syndrome 1, and (4) spinocerebellopathies: spinocerebellar degeneration 1.…”

Eight-Year-Old Girl with Psychomotor Retardation and Seizures

“…In summary, NCL is an important cause of metabolic progressive neurologic dysfunction in childhood, and is one of the most frequent diagnoses made in biopsies done on children with neurodegenerative disease [1]. Tissue biopsy remains the only definitive means of con firming the diagnosis in this disease at the present time.…”