Dejerine-Sottas disease

a case report

Authors

  • Jaqueline Luvisotto Marinho Faculdade de Medicina, Universidade de Mogi das Cruzes and Instituto de Infectologia Emílio Ribas
  • José Luis Alonso Nieto Faculdade de Medicina, Universidade de Mogi das Cruzes and Instituto de Infectologia Emílio Ribas
  • Edenilson Eduardo Calore Faculdade de Medicina, Universidade de Mogi das Cruzes and Instituto de Infectologia Emílio Ribas

Keywords:

Hereditary peripheral neuropathies, Dejerine-Sottas disease, Nerve biopsy, Genetic neuropathies

Abstract

CONTEXT: Hereditary peripheral neuropathies (hereditary motor-sensory neuropathies or hereditary demyelinating neuropathies) are abnormalities of Schwann cells and their myelin sheaths, with peripheral nerve dysfunction. They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy. OBJECTIVE: The objective of the present work was to describe a case of Dejerine-Sottas disease. CASE REPORT: A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia. Electromyography disclosed significant reduction in motor and sensory nerve conduction velocities. Sural nerve biopsy showed axons surrounded by a thin myelin sheath and concentrically arranged cytoplasmic processes of Schwann cells forming onion-bulbs. No axon damage was observed.

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Author Biographies

Jaqueline Luvisotto Marinho, Faculdade de Medicina, Universidade de Mogi das Cruzes and Instituto de Infectologia Emílio Ribas

Laboratory of Surgical and Experimental Pathology, Faculdade de Medicina, Universidade de Mogi das Cruzes, Mogi das Cruzes, São Paulo, Brazil.

José Luis Alonso Nieto, Faculdade de Medicina, Universidade de Mogi das Cruzes and Instituto de Infectologia Emílio Ribas

MD. Instituto de Infectologia Emílio Ribas, São Paulo, Brazil.

Edenilson Eduardo Calore, Faculdade de Medicina, Universidade de Mogi das Cruzes and Instituto de Infectologia Emílio Ribas

MD, PhD. Laboratory of Surgical and Experimental Pathology, Faculdade de Medicina, Universidade de Mogi das Cruzes, Mogi das Cruzes, São Paulo, Brazil and Instituto de Infectologia Emílio Ribas, São Paulo, Brazil.

References

Warner LE, Garcia CA, Lupski JR. Hereditary peripheral neu- ropathies: clinical forms, genetics, and molecular mechanisms. Annu Rev Med 1999;50:263-75.

Glocker FX, Rosler KM, Linden D, Heinen F, Hess CW, Lucking CH. Facial nerve dysfunction in hereditary motor and sensory neuropathy type I and III. Muscle Nerve 1999;22(9):1201-8.

Dejerine J, Sottas J. Sur la névrite interstitielle, hypertrophique et progressive de l’enfance. Mem Soc Biol 1893;9(5):63-96.

Stogbauer F, Young P, Wiebusch H, et al. Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome. Neurosci Lett 1998;240(1):1-4.

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Published

2003-09-09

How to Cite

1.
Marinho JL, Nieto JLA, Calore EE. Dejerine-Sottas disease: a case report. Sao Paulo Med J [Internet]. 2003 Sep. 9 [cited 2025 Mar. 15];121(5):207-9. Available from: https://periodicosapm.emnuvens.com.br/spmj/article/view/2636

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Section

Case Report