Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy.

Abstract

We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A.

• Authors: Wilson Marques Jr, Carolina A R Funayama, Juliana B Secchin, Charles M Lourenço, Silmara P Gouvêa, Vanessa D Marques, Patricia G Bastos, Amilton A Barreira
• Journal: Muscle & nerve (Muscle Nerve) Vol. 42 Issue 4 Pg. 598-600 (Oct 2010) ISSN: 1097-4598 [Electronic] United States
• PMID: 20878740 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Immunoglobulins, Intravenous

Topics

• Action Potentials
• Charcot-Marie-Tooth Disease (complications, physiopathology, therapy)
• Child, Preschool
• Chromosomes, Human, Pair 17 (genetics)
• Chronic Disease
• Disability Evaluation
• Drug Administration Schedule
• Female
• Gene Duplication
• Humans
• Immunoglobulins, Intravenous (administration & dosage)
• Immunomodulation
• Muscle, Skeletal (physiopathology)
• Neural Conduction
• Polyradiculoneuropathy, Chronic Inflammatory Demyelinating (complications, physiopathology, therapy)
• Sensory Receptor Cells
• Treatment Outcome