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An ultramicroscopic study of skin and conjunctival biopsies in chronic neurological disorders of childhood
Author(s) -
ArsenioNunes M. L.,
Goutières F.,
Aicardi J.
Publication year - 1981
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410090210
Subject(s) - medicine , pathology , biopsy , gangliosidosis , skin biopsy , dystrophy , dermatology , disease
One hundred twenty‐seven skin and 59 conjunctival biopsies were performed in 136 pediatric patients with chronic neurological disorders. Ultrastructural abnormalities were found in 48 of 72 patients with unequivocally progressive encephalopathies (67 of which could not be diagnosed by biochemical means) and in 4 patients with miscellaneous diseases (fetal rebulla syndrome and hereditary motor‐sensory neuropathy), but in none of 55 patients with static or dubiously progressive encephalopathies. Of the 48 positive biopsies in the group with progressive encephalopathies, 39 showed abnormalities characteristic enough to permit a specific diagnosis (lysosomal storage disorders, neuroaxonal dystrophy, ophthalmoplegia‐plus) in conjunction with a compatible clinical picture. In 9 cases no diagnosis could be made despite the finding of lamellar or vacuolar inclusions. In no case were discrepancies observed between the results of skin and conjunctival biopsies. Although biochemical analysis is the simplest and most effective technique for the diagnosis of most progressive encephalopathies, skin or conjunctival biopsy is a valuable procedure in patients without detectable enzyme deficiency.