Peripheral neuropathies in childhood: a neuropathological approach

Chimelli, Leila

doi:10.1590/S0004-282X1996000300025

Abstracts

Peripheral neuropathies affect children more often than the young and middle age adults, but less frequently than the elderly. They differ from those in the adults because of the high incidence of hereditary neuropathies, including those associated with metabolic and degenerative disorders of the central nervous system; the low incidence of toxic neuropathies and those associated with systemic disorders; and a lower incidence of chronic acquired polineuropathies. Nerve biopsies are indicated if the diagnosis has not been made with clinical and electrophysiologic studies and other methods, and should only be performed in laboratories with appropriate techniques for the study of the nerve. It is important to know the normal development of the nerve, the thickness of the myelin sheath and the distribution of small and large fibers, according to the age. The main morphological aspects of the most frequent neuropathies in children - acquired (inflammatory, demyelinating) and hereditary (sensory-motor, sensory-autonomic, ataxic, and those associated with metabolic and degenerative disorders), are reviewed.

peripheral neuropathies; childhood; nerve biopsy; morphology

As neuropatias periféricas afetam as crianças mais frequentemente do que os adultos jovens e de meia idade, mas menos frequentemente do que os mais velhos. Diferem das dos adultos pela alta incidência de neuropatias hereditárias, incluindo as associadas a doenças metabólicas e degenerativas do sistema nervoso central; pela baixa incidência de neuropatias tóxicas e associadas a doenças sistêmicas; e pela menor incidência de polineuropatias crônicas adquiridas. As biópsias de nervo são indicadas se o diagnóstico não for feito com estudos clínicos, eletrofisiológicos e outros métodos de investigação, e só devem ser realizadas em laboratórios que dispõem de técnicas apropriadas para estudo do nervo. É importante conhecer o desenvolvimento do nervo periférico, a espessura da mielina e a distribuição das fibras quanto ao calibre, segundo a faixa etária. Nesta revisão são abordados os principais aspectos morfológicos das neuropatias mais frequentes na infância - formas adquiridas (inflamatórias, desmielinizantes) e hereditárias (sensitivo-motoras, sensitivo- autonômicas, atáxicas e associadas a doenças metabólicas e degenerativas).

neuropatias periféricas; infância; biópsia de nervo; morfologia

Neuropatias periféricas na infância: uma abordagem neuropatológica

Peripheral neuropathies in childhood: a neuropathological approach

Leila Chimelli

Departamento de Patologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo (USP). MD, PhD, Professora Associada

RESUMO

As neuropatias periféricas afetam as crianças mais frequentemente do que os adultos jovens e de meia idade, mas menos frequentemente do que os mais velhos. Diferem das dos adultos pela alta incidência de neuropatias hereditárias, incluindo as associadas a doenças metabólicas e degenerativas do sistema nervoso central; pela baixa incidência de neuropatias tóxicas e associadas a doenças sistêmicas; e pela menor incidência de polineuropatias crônicas adquiridas. As biópsias de nervo são indicadas se o diagnóstico não for feito com estudos clínicos, eletrofisiológicos e outros métodos de investigação, e só devem ser realizadas em laboratórios que dispõem de técnicas apropriadas para estudo do nervo. É importante conhecer o desenvolvimento do nervo periférico, a espessura da mielina e a distribuição das fibras quanto ao calibre, segundo a faixa etária. Nesta revisão são abordados os principais aspectos morfológicos das neuropatias mais frequentes na infância - formas adquiridas (inflamatórias, desmielinizantes) e hereditárias (sensitivo-motoras, sensitivo- autonômicas, atáxicas e associadas a doenças metabólicas e degenerativas).

Palavras-chave: neuropatias periféricas, infância, biópsia de nervo, morfologia.

ABSTRACT

Peripheral neuropathies affect children more often than the young and middle age adults, but less frequently than the elderly. They differ from those in the adults because of the high incidence of hereditary neuropathies, including those associated with metabolic and degenerative disorders of the central nervous system; the low incidence of toxic neuropathies and those associated with systemic disorders; and a lower incidence of chronic acquired polineuropathies. Nerve biopsies are indicated if the diagnosis has not been made with clinical and electrophysiologic studies and other methods, and should only be performed in laboratories with appropriate techniques for the study of the nerve. It is important to know the normal development of the nerve, the thickness of the myelin sheath and the distribution of small and large fibers, according to the age. The main morphological aspects of the most frequent neuropathies in children - acquired (inflammatory, demyelinating) and hereditary (sensory-motor, sensory-autonomic, ataxic, and those associated with metabolic and degenerative disorders), are reviewed.

Key words: peripheral neuropathies, childhood, nerve biopsy, morphology.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Aceite: 22-março-1996.

Dra. Leila Chimelli - Departamento de Patologia, Faculdade de Medicina de Ribeirão Preto, USP - Avenida Bandeirantes 3900 - 14049-900 Ribeirão Preto SP - Brasil.

1. Dyck PJ. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In Dyck PJ, Thomas PK, Lambert EH, Bunge R (eds). Peripheral neuropathy. Ed2. Philadelphia: WB Saunders, 1984:1557-1599.
2. Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In Dyck PJ, Thomas PK, Lambert EH, Bunge R (eds). Peripheral neuropathy. Ed2. Philadelphia: WB Saunders, 1984:1600-1655.
3. Dyck PJ. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF. Peripheral neuropathy. Ed3. Philadelphia: WB Saunders, 1993:1065-1093.
4. Dyck PJ. Is there an axonal variety of GBS? Neurology 1993;43:1277-1280.
5. Dyck PJ.Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF. Peripheral neuropathy, Ed3. Philadelphia: WB Saunders, 1993:1094-1136.
6. Feasby TE, Hahn AF, Brown WF, Bolton CF, Gilbert JJ, Koopman WJ. Severe axonal degeneration in acute Guillain-Barré syndrome: evidence of two different mechanisms? J Neurol Sci 1993,116:185-192.
7. Freitas MRG, Nascimento OJM, Freitas GR. Doença de Charcot-Marie-Tooth: estudo clínico de 45 pacientes. Arq Neuropsiquiatr 1995;53:545-551.
8. Gabreels-Festen AAWM, Gabreels FJM, Jennekens FGI, Janssen-Van-Kempen TW. The status of HMSN type III. Neuromusc Disord 1994,4:63-69.
9. Hahn AF, Gilbert JJ, Kwarciak C, Gillett J, Bolton CF, Rupar CA, Callahan JW. Nerve biopsy findings in Niemann-Pick type II (NPC). Acta Neuropathol (Berl)1994,87:149-154.
10. Jacobs JM, Harding BN, Lake BD, Payan J, Wilson J. Peripheral neuropathy in Leigh's disease. Brain 1990; 113:447-462.
11. Johnson MD, Glick AD, Whetsell WO Jr. Central hypomyelination associated with congenital hypomyelinating polyneuropathy: report of an autopsied case. Clin Neuropathol 1989;8:28-34.
12. Kumar K, Barre P, Nigro M, Jones MZ. Giant axonal neuropathy: clinical, electrophysiologic, and neuropathologic features in two siblings. J Child Neurol 1990;5:229-234.
13. Lupski JR, Garcia CA. Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type IA. Brain Pathol 1992;2:337-349.
14. Malandrini A, Guazzi GC, Federico A. Sensory-motor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy. Clin Neuropathol 1992; 11:318-322.
15. McKhann GM, Comblath DR, Griffin JW, Ho PW, Li CY, Jiang Z, Wu HF, Vhaori G, Liu Y, Jou LP, Liu PC, Gao CY, Mao JY, Blaser MJ, Mishu B, Asbury AK. Acute motor axonal neuropathy: a frequent cause of acute flaccid paralysis in China. Ann Neurol 1993;33:333-342.
16. Midroni G, Bilbao JM. Biopsy diagnosis of peripheral neuropathy. Boston: Butterworth-Heinemann, 1995.
17. Miike T, Ohtani Y, Nishiyama S, Matsuda I. Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy. Acta Neuropathol (Berl) 1986;69:117-123.
18. Nara T, Akashi M, Nonaka I, Nakanishi Y, Hamano S, Ochiai Y, Tsuzura S. Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy. J Neurol Sci 1995;129:170-174.
19. Ouvrier RA, McLeod JG, Pollard JD. Peripheral neuropathy in childhood: the International Review of Child Neurology. New York: Raven Press, 1990.
20. Richardson EP Jr, De Girolami U. Pathology of the peripheral nerve. Philadelphia: WB Saunders, 1995.
21. Rosemberg S, Marie SK, Kliemann S. Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr Neurol 1994;11:50-56.
22. Sasaki K, Tachi N, Shinoda M, Satoh N, Minami R, Ohnishi A. Demyelinating peripheral neuropathy in Cockayne syndrome. Brain Develop 1992;14:114-117.
23. Schroder JM, Bohl J, Von Bardeleben U. Changes in the ratio between myelin thickness and axon diameter in human developing sural, femoral, ulnar, facial and throchear nerves. Acta Neuropathol (Berl) 1988;76:471-483.
24. Snipes GJ, Suter U. Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models. Brain Pathol 1995;5:233-247.
25. Taratuto AL, Sevlever G, Saccoliti M, Caceres L, Schultz M. Giant axonal neuropathy (GAN): an immunohistochemical and ultrastructural study report of a Latin American case. Acta Neuropathol (Berl) 1990;80:680-683.
26. Vital A, Vital C. Peripheral neuropathies. In Duckett S, (ed) Pediatric neuropathology. Baltimore: Williams & Wilkins, 1995:767-784.
27. Vital A, Vital C, Julien J, Fontan D. Occurrence of active demyelinating lesions in children with hereditary motor and sensory neuropathy (HMSN) type I. Acta Neuropathol (Berl) 1992;84:433-436.
28. Wisniewski KE, Madrid RE, Dambska M, Rapin I, Pullarkat R, Sklower S. Spino-cerebellar degeneration with polyneuropathy associated with ceroid lipofuscinosis in one family. J Child Neurol 1988;3:33-41.
29. Yokota T, Kanda T, Hirashima F, Hirose K, Tanabe H. Is the acute axonal form of Guillain-Barré syndrome a primary axonopathy? Muscle & Nerve 1992; 15:1211 -1213.

Publication Dates

Publication in this collection
10 Nov 2010
Date of issue
Sept 1996

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Dyck PJ. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In Dyck PJ, Thomas PK, Lambert EH, Bunge R (eds). Peripheral neuropathy. Ed2. Philadelphia: WB Saunders, 1984:1557-1599.

[2] 2. Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In Dyck PJ, Thomas PK, Lambert EH, Bunge R (eds). Peripheral neuropathy. Ed2. Philadelphia: WB Saunders, 1984:1600-1655.

[3] 3. Dyck PJ. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF. Peripheral neuropathy. Ed3. Philadelphia: WB Saunders, 1993:1065-1093.

[4] 4. Dyck PJ. Is there an axonal variety of GBS? Neurology 1993;43:1277-1280.

[5] 5. Dyck PJ.Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF. Peripheral neuropathy, Ed3. Philadelphia: WB Saunders, 1993:1094-1136.

[6] 6. Feasby TE, Hahn AF, Brown WF, Bolton CF, Gilbert JJ, Koopman WJ. Severe axonal degeneration in acute Guillain-Barré syndrome: evidence of two different mechanisms? J Neurol Sci 1993,116:185-192.

[7] 7. Freitas MRG, Nascimento OJM, Freitas GR. Doença de Charcot-Marie-Tooth: estudo clínico de 45 pacientes. Arq Neuropsiquiatr 1995;53:545-551.

[8] 8. Gabreels-Festen AAWM, Gabreels FJM, Jennekens FGI, Janssen-Van-Kempen TW. The status of HMSN type III. Neuromusc Disord 1994,4:63-69.

[9] 9. Hahn AF, Gilbert JJ, Kwarciak C, Gillett J, Bolton CF, Rupar CA, Callahan JW. Nerve biopsy findings in Niemann-Pick type II (NPC). Acta Neuropathol (Berl)1994,87:149-154.

[10] 10. Jacobs JM, Harding BN, Lake BD, Payan J, Wilson J. Peripheral neuropathy in Leigh's disease. Brain 1990; 113:447-462.

[11] 11. Johnson MD, Glick AD, Whetsell WO Jr. Central hypomyelination associated with congenital hypomyelinating polyneuropathy: report of an autopsied case. Clin Neuropathol 1989;8:28-34.

[12] 12. Kumar K, Barre P, Nigro M, Jones MZ. Giant axonal neuropathy: clinical, electrophysiologic, and neuropathologic features in two siblings. J Child Neurol 1990;5:229-234.

[13] 13. Lupski JR, Garcia CA. Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type IA. Brain Pathol 1992;2:337-349.

[14] 14. Malandrini A, Guazzi GC, Federico A. Sensory-motor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy. Clin Neuropathol 1992; 11:318-322.

[15] 15. McKhann GM, Comblath DR, Griffin JW, Ho PW, Li CY, Jiang Z, Wu HF, Vhaori G, Liu Y, Jou LP, Liu PC, Gao CY, Mao JY, Blaser MJ, Mishu B, Asbury AK. Acute motor axonal neuropathy: a frequent cause of acute flaccid paralysis in China. Ann Neurol 1993;33:333-342.

[16] 16. Midroni G, Bilbao JM. Biopsy diagnosis of peripheral neuropathy. Boston: Butterworth-Heinemann, 1995.

[17] 17. Miike T, Ohtani Y, Nishiyama S, Matsuda I. Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy. Acta Neuropathol (Berl) 1986;69:117-123.

[18] 18. Nara T, Akashi M, Nonaka I, Nakanishi Y, Hamano S, Ochiai Y, Tsuzura S. Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy. J Neurol Sci 1995;129:170-174.

[19] 19. Ouvrier RA, McLeod JG, Pollard JD. Peripheral neuropathy in childhood: the International Review of Child Neurology. New York: Raven Press, 1990.

[20] 20. Richardson EP Jr, De Girolami U. Pathology of the peripheral nerve. Philadelphia: WB Saunders, 1995.

[21] 21. Rosemberg S, Marie SK, Kliemann S. Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr Neurol 1994;11:50-56.

[22] 22. Sasaki K, Tachi N, Shinoda M, Satoh N, Minami R, Ohnishi A. Demyelinating peripheral neuropathy in Cockayne syndrome. Brain Develop 1992;14:114-117.

[23] 23. Schroder JM, Bohl J, Von Bardeleben U. Changes in the ratio between myelin thickness and axon diameter in human developing sural, femoral, ulnar, facial and throchear nerves. Acta Neuropathol (Berl) 1988;76:471-483.

[24] 24. Snipes GJ, Suter U. Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models. Brain Pathol 1995;5:233-247.

[25] 25. Taratuto AL, Sevlever G, Saccoliti M, Caceres L, Schultz M. Giant axonal neuropathy (GAN): an immunohistochemical and ultrastructural study report of a Latin American case. Acta Neuropathol (Berl) 1990;80:680-683.

[26] 26. Vital A, Vital C. Peripheral neuropathies. In Duckett S, (ed) Pediatric neuropathology. Baltimore: Williams & Wilkins, 1995:767-784.

[27] 27. Vital A, Vital C, Julien J, Fontan D. Occurrence of active demyelinating lesions in children with hereditary motor and sensory neuropathy (HMSN) type I. Acta Neuropathol (Berl) 1992;84:433-436.

[28] 28. Wisniewski KE, Madrid RE, Dambska M, Rapin I, Pullarkat R, Sklower S. Spino-cerebellar degeneration with polyneuropathy associated with ceroid lipofuscinosis in one family. J Child Neurol 1988;3:33-41.

[29] 29. Yokota T, Kanda T, Hirashima F, Hirose K, Tanabe H. Is the acute axonal form of Guillain-Barré syndrome a primary axonopathy? Muscle & Nerve 1992; 15:1211 -1213.