Summary
Ultrastructural studies on the skin of two patients affected by infantile neuroaxonal dystrophy (INAD) were performed to evaluate its diagnostic value and to discuss the etiology of INAD. While the majority of terminal axons around intradermal glands were dystophic consisting of tubulomembranous and tubulovesicular profiles sometimes accompanied by synaptic vesicles, there were only few dystophic axons inside intradermal nerve bundles. These observations suggest that the primary lesion of INAD is located in terminal and presynaptic axons. Therefore, terminal axons have to be investigated when a diagnostic skin biopsy is performed in INAD.
Similar content being viewed by others
References
Aicardi J, Castelein P (1979) Infantile neuroaxonal dystrophy. Brain 102:727–748
Arsénio-Nunes ML, Goutières F (1978) Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy. J Neurol Neurosurg Psychiatry 41:511–515
Ferrer I, Fabregues I, Pineda M, Fernandez Alvarez E, Cusi V, Vila J (1983) Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy. Neuropediatrics 14: 53–55
Goebel HH, Kohlschütter A, Schulte FJ (1980) Rectal biopsy findings in infantile neuroaxonal dystrophy. Neuropediatrics 11:388–392
Gonatas NK, Evangelista I, Walsh GO (1967) Axonic and synaptic changes in a case of psychomotor retardation: an electron microscopic study. J Neuropathol Exp Neurol 26:179–199
Hedley-Whyte ET, Gilles FH, Uzman BG (1968) Infantile neuroaxonal dystrophy. A disease characterized by altered terminal and synaptic endings. Neurology 18:891–906
Huttenlocher PR, Gilles FH (1967) Infantile neuroaxonal dystrophy, clinical, pathologic, and histochemical findings in a family with three affected siblings. Neurology 17:1174–1184
Kimura S, Iwamoto H, Sasaki S (1986) Peripheral nerve pathology of infantile neuroaxonal dystrophy (in Japanese). No to Hattatsu 18:8–13
Martin JJ, Leroy JG, Libert J, von Eygen M, Logghe N (1979) Skin and conjunctival biopsies in infantile neuroaxonal dystrophy. Acta Neuropathol (Berl) 45:247–251
Miike T, Ohtani Y, Nishiyama S, Matsuda I (1986) Pathology of skeletal muscle and intramuscular nerve in infantile neuroaxonal dystrophy. Acta Neuropathol (Berl) 69:117–123
Sandbank U, Lerman P, Geifman M (1970) Infantile neuroaxonal dystrophy: cortical axonic and presynaptic changes. Acta Neuropathol (Berl) 16:342–352
Shimono M, Ohta M, Asada M, Kuroiwa Y (1976) Infantile neuroaxonal dystrophy. Ultrastructural study of peripheral nerve. Acta Neuropathol (Berl) 36:71–79
Yagishita S, Kimura S (1974) Infantile neuroaxonal dystrophy (Seitelberger's disease). Histological and electromicroscopical study of two cases. Acta Neuropathol (Berl) 29:115–126
Wisniewski K, Wisniewski HM (1980) Diagnosis of infantile neuroaxonal dystrophy by skin biopsy. Ann Neurol 17: 377–379
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kimura, S., Sasaki, Y., Warlo, I. et al. Axonal pathology of the skin in infantile neuroaxonal dystrophy. Acta Neuropathol 75, 212–215 (1987). https://doi.org/10.1007/BF00687084
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00687084