Summary
The diagnosis of infantile neuro-axonal dystrophy (INAD) in a 5-year-old patient was confirmed by the ultrastructural study of neuromuscular, skin and conjunctival biopsy specimens. Abnormal networks of smooth membranous, lamellar and tubular profiles were found in presynaptic terminals and in conjunctival and dermal axons.
INAD is the first neurological disease outside the group of storage disorders in which skin and conjunctival biopsies contribute significantly to the diagnosis.
This is a preview of subscription content, log in via an institution to check access.
References
Arsénio-Nunes, M. L., Goutières, F.: Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy. J. Neurol. Neurosurg. Psychiatry41, 511–515 (1978)
Bérard-Badier, M., Gambarelli, D., Pinsard, N., Hassoun, J., Toga, M.: Infantile neuroaxonal dystrophy or Seitelberger's disease. II. Peripheral nerve involvement; electron microscopic study in one case. Acta Neuropathol. (Berl.) Suppl.V, 30–39 (1971)
Ferriss, G. S., Happel, L. T., Duncan, M. C.: Cerebral cortical isolation in infantile neuroaxonal dystrophy. Electroencephalogr. Clin. Neurophysiol.43, 168–182(1977)
Libert, J., Danis, P.: Diagnosis of type A Niemann-Pick's disease by conjunctival biopsy. Pathol. Eur.10, 233–239 (1975)
Martin, J. J., Ceuterick, C.: Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system. J. Neurol. Neurosurg. Psychiatry41, 232–248 (1978)
Martin, J. J., de Groote, C.: Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses). Pathol. Eur.9, 263–272 (1974)
Martin, J. J., Martin, L.: Infantile neuroxonal dystrophy. Ultrastructural study of the peripheral nerves and of motor endplates. Eur. Neurol.8, 239–250 (1972)
Martin, L., Trelles, L., Martin, J. J.: Evolution clinique de la dystrophie neuroaxonale infantile à la lumière de la chronologie des atrophies systématisées sous-jacentes. J. Neurol. Sci.15, 439–455 (1972)
Orfanos, C. E., Runne, U.: Tumor-and drug-induced cutaneous neurophospholipidosis. J. Cutan. Pathol.2, 232–239 (1975)
Radermecker, J., Martin, J. J.: Dystrophie neuro-axonale et maladie de Hallervorden-Spatz infantiles. Aspects électro-cliniques et anatomo-pathologiques, diagnostic différentiel. Bull. Acad. Roy. Méd. Belg.12, 459–502 (1972)
Seitelberger, F.: Eine unbekannte Form von infantiler Lipoid-Speicherkrankheit des Gehirns. In: Proc. First Intern. Congress of Neuropathology, Rome 1952, Vol. 3, pp. 323–333. Turin: Rosenberg and Sellier 1952
Sengel, A., Stoebner, P.: Intérêt de la biopsie neuromusculaire dans le diagnostic de la dystrophie neuro-axonale infantile. Etude ultrastructurelle de trois cas dont deux familiaux. Acta Neuropathol. (Berl.)21, 109–116 (1972)
Shimono, M., Ohta, M., Asada, M., Kuroiwa, Y.: Infantile neuroaxonal dystrophy. Ultrastructural study of peripheral nerve. Acta Neuropathol. (Berl.)36, 71–79 (1976)
Van Hoof, F., Libert, J., Aubert-Tulkens, G., Serra, M. V.: The assay of lacrymal enzymes and the ultrastructural analysis of conjunctival biopsies: new techniques for the study of inborn lysosomal diseases. Metabolic Ophthalmology1, 165–171 (1977)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Martin, J.J., Leroy, J.G., Libert, J. et al. Skin and conjunctival biopsies in infantile neuroaxonal dystrophy. Acta Neuropathol 45, 247–251 (1979). https://doi.org/10.1007/BF00702677
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00702677