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Tytuł pozycji:

Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience.

Tytuł:
Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience.
Autorzy:
Dabaj I; CHU de Rouen, Service de néonatologie, réanimation pédiatrique, neuropédiatrie et éducation fonctionnelle de l'enfant, 76000 Rouen, France.; APHP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, 92380 Garches, France.; Centre de Reference Nord-Est-Ile de France pour le Réseau national de maladies neuromusculaires (FILNEMUS), 75015 Paris, France.
Gitiaux C; Centre de Reference Nord-Est-Ile de France pour le Réseau national de maladies neuromusculaires (FILNEMUS), 75015 Paris, France.; Service de neurophysiologie clinique pédiatrique, Hôpital universitaire Necker Enfants Malades, APHP, Université de Paris, 75015 Paris, France.
Avila-Smirnow D; Sección de Neurología, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Santiago 8330077, Chile.
Ropers J; Unité de recherche clinique, Hôpital Pitié Salpetrière, AP-HP, 75013 Paris, France.
Desguerre I; Centre de Reference Nord-Est-Ile de France pour le Réseau national de maladies neuromusculaires (FILNEMUS), 75015 Paris, France.
Salon A; Université Paris Descartes, Sorbonne Paris Cité. Service d'orthopédie infantile, Hôpital Necker enfants malades, 75015 Paris, France.
Pannier S; Université Paris Descartes, Sorbonne Paris Cité. Service d'orthopédie infantile, Hôpital Necker enfants malades, 75015 Paris, France.
Tebani A; CHU de Rouen, laboratoire de biochimie métabolique, 76000 Rouen, France.
Valayannopoulos V; Sanofi Genzyme, 50 Binney Street, Cambridge, MA 02142, USA.
Quijano-Roy S; APHP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, 92380 Garches, France.; Centre de Reference Nord-Est-Ile de France pour le Réseau national de maladies neuromusculaires (FILNEMUS), 75015 Paris, France.; INSERM U1179, Université Versailles Saint-Quentin (UVSQ), UFR des sciences de la santé Simone Veil, 78180 Montigny, France.
Źródło:
Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2019 Dec 20; Vol. 10 (1). Date of Electronic Publication: 2019 Dec 20.
Typ publikacji:
Journal Article
Język:
English
Imprint Name(s):
Original Publication: Basel, Switzerland : MDPI AG, [2011]-
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Contributed Indexing:
Keywords: DML; MNCV-w; SNCV; carpal tunnel syndrome (CTS); electrodiagnostic studies (EDX, EMG); mucopolysaccharidosis (MPS)
Entry Date(s):
Date Created: 20191222 Latest Revision: 20200928
Update Code:
20240105
PubMed Central ID:
PMC7169406
DOI:
10.3390/diagnostics10010005
PMID:
31861915
Czasopismo naukowe
Introduction: Mucopolysaccharidoses (MPS) are rare and clinically heterogeneous lysosomal storage disorders. Carpal tunnel syndrome (CTS) is a frequent complication in MPS types I, II, VI, and VII. CTS symptoms are difficult to recognize in these children, and often there is a lack of appropriate investigations.
Patients and Methods: In this retrospective study, all MPS patients were referred to the electrodiagnostic (EDX) laboratory of a single academic center during a 10-year period. Forty-eight children underwent serial EDX studies for CTS diagnosis and follow-up after surgery. Forty-two patients were diagnosed with CTS. Sensory nerve conduction velocity (SNCV), distal motor latency (DML), and motor nerve conduction velocity through the wrist (MNCV-W) of the median nerve were reviewed and analyzed.
Results: One-hundred-three EDX examinations were performed on 48 patients. The median age at disease diagnosis was 2.1 years versus 4.9 years for CTS diagnosis. Analysis of the series revealed that electrophysiological abnormalities of CTS could have started much earlier (before the age of 2 years or at diagnosis of MPS). Diagnosis was based on SNCV and DML results, and MNCV-W was taken into consideration. Bilateral CTS was frequent (88%) in the types of MPS studied in our population and was observed from the first year of life, and may not have be associated with obvious clinical symptoms. EDX studies also helped in the follow-up and detection of CTS relapses, thus leading to an early intervention allowing a better recovery.
Conclusion: EDX studies should be performed promptly and regularly in these patients. Prospective studies are required in order to understand the effect of disease-specific therapies in preventing the development of CTS in these patients.
Synopsis: EDX studies should be performed in MPS patients soon after diagnosis and during routine follow-up, before and after surgical decompression.
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