A case of severe congenital chronic inflammatory demyelinating polyneuropathy with complete spontaneous remission.
Chronic inflammatory demyelinating polyneuropathy (CIPD) is characterised by progressive weakness, hyporeflexia and electrophysiological evidence of demyelination with maximal neurological deficit reached after at least 8 weeks progression. CIPD rarely affects children. We present a neonate with clinical features compatible with congenital CIPD. A term male infant of non-consanguineous parents was referred to us at birth with weakness and contractures affecting his legs, suggesting a prenatal onset of immobility. He also had evidence of bulbar dysfunction with poor suck, recurrent aspiration and requiring nasogastric feeding. He had no antigravity movements in the legs, bilateral wrist drop, distal joint contractures and absent deep tendon reflexes. Electromyography showed neurogenic changes, with nerve conduction velocities markedly reduced, increased distal motor latency and dispersed compound muscle action potentials. Cerebrospinal fluid protein was raised. Sural nerve biopsy demonstrated decreased numbers of myelinated fibres and inflammatory cell infiltrates. Muscle biopsy showed denervation. He only received supportive treatment and by 6 months he had fully recovered, and all electrophysiological parameters had normalised.
Majumdar
A
A
Department of Paediatrics, Dubowitz Neuromuscular Unit, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, UK. majuma@gosh.nhs.uk
Hartley
L
L
Manzur
A Y
AY
King
R H M
RH
Orrell
R W
RW
Muntoni
F
F
D018450:Disease Progression; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D046529:Microscopy, Electron, Transmission; D018908:Muscle Weakness / Q000151:congenital / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology / Q000503:physiopathology; D009186:Myelin Sheath / Q000473:pathology / Q000648:ultrastructure; D009413:Nerve Fibers, Myelinated / Q000473:pathology / Q000648:ultrastructure; D009419:Nerve Tissue Proteins / Q000134:cerebrospinal fluid; D009431:Neural Conduction / Q000235:genetics; D010291:Paresis / Q000151:congenital / Q000473:pathology / Q000503:physiopathology; D017933:Peripheral Nervous System / Q000473:pathology / Q000503:physiopathology*; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000151:congenital* / Q000473:pathology / Q000503:physiopathology*; D012075:Remission, Spontaneous; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure
D009419:Nerve Tissue Proteins