Genetic neuropathies presenting with CIDP-like features in childhood.
Neuromuscul Disord
; 31(2): 113-122, 2021 02.
Article
en En
| MEDLINE
| ID: mdl-33386210
ABSTRACT
Inherited neuropathies are amongst the most common neuromuscular disorders. The distinction from chronic inflammatory demyelinating polyneuropathy (CIDP) may be challenging, considering its rarity in childhood, that genetic neuropathies may show secondary inflammatory features, and that subacute CIDP presentations may closely mimic the disease course of inherited disorders. The overlap between genetic neuropathies and CIDP is increasingly recognized in adults but rarely reported in children. Here we report 4 children with a neuropathy of subacute onset, initially considered consistent with an immune-mediated neuropathy based on suggestive clinical, laboratory and neurophysiological features. None showed convincing response to intravenous immunoglobulin therapy, leading to re-evaluation and confirmation of a genetic neuropathy in each case (including PMP22, MPZ and SH3TC2 genes). A review of the few Paediatric cases reported in the literature showed similar delays in diagnosis and no significant changes to immunomodulatory treatment. Our findings emphasize the importance of considering an inherited neuropathy in children with a CIDP-like presentation. In addition to an inconclusive response to treatment, subtle details of the family and developmental history may indicate a genetic rather than an acquired background. Correct diagnostic confirmation of a genetic neuropathy in a child is crucial for appropriate management, prognostication and genetic counselling.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Reino Unido