Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.
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.
Service de Neurologie Pédiatrique et Maladies métaboliques, hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France. cyril.gitiaux@nck.aphp.fr
Cyril
C
Gitiaux
Jean
J
Bergounioux
Maryse
M
Magen
Susana
S
Quijano-Roy
Thierry
T
Blanc
Jean Paul
JP
Bonnefont
Isabelle
I
Desguerre
D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D004576:Electromyography; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009460:Neurologic Examination; D010641:Phenotype; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D012133:Respiratory Paralysis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics*; D015300:Ventilator Weaning
D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors