Diaphragmatic Weakness With Progressive Sensory and Motor Polyneuropathy: Case Report of a Neonatal IGHMBP2-Related Neuropathy

作者：Gitiaux Cyril^*; Bergounioux Jean; Magen Maryse; Quijano Roy Susana; Blanc Thierry; Bonnefont Jean Paul; Desguerre Isabelle

来源：Journal of Child Neurology, 2013, 28(6): 784-787.

DOI：10.1177/0883073812450209

• infantile neuropathy
• diaphragmatic weakness
• palsy
• spinal muscular atrophy with respiratory distress type I
• peripheral nervous system diseases

The authors present a child affected with diaphragmatic paralysis in the early neonatal period. Although no electroneuromyographic abnormalities were reported, the patient developed dramatic motor and respiratory impairment with impossibility to wean from mechanical ventilation. Repeated electroneuromyographic study at age 4 months revealed severe neurogenic changes and sensory nerve abnormalities with more preserved nerve conduction velocities. Genetic studies identified 2 mutations in the gene IGHMBP2. These results support the consideration of this entity as a form of sensory-motor rapidly progressive polyneuropathy rather than a primary anterior horn disease (IGHMBP2-related neuropathy). A review of the series of mutated patients in the French National Database gives new insights of the incidence of this disease in France.

• 出版日期2013-6