scholarly journals Prevalence of Mucopolysaccharidosis I in A Paediatric and Young Adult Population, Diagnosed with Carpal Tunnel Syndrome

2020 ◽  
Vol 5 (07) ◽  
pp. 210-216
Author(s):  
Domingo Ly-Pen ◽  
José-Luis Andreu ◽  
Gema de Blas ◽  
Alberto Sánchez-Olaso ◽  
Jesús Jiménez San Emeterio
Keyword(s):  
Young Adults ◽  
Carpal Tunnel Syndrome ◽  
Early Diagnosis ◽  
Carpal Tunnel ◽  
Confirmatory Test ◽  
Categorical Variables ◽  
Type I ◽  
Tunnel Syndrome ◽  
Children And Young Adults ◽  
Mps I

Introduction: Mucopolysaccharidosis type I (MPS-I: Hurler/Scheie´s disease) is a rare disease with a wide spectrum of severity. This results in underdiagnosis and delayed diagnosis. Prognosis greatly depends upon early diagnosis. The availability of reliable diagnostic tests and the existence of enzyme replacement therapy and/or hematopoietic stem cell transplantation, make an early diagnosis of these patients extremely important. Carpal tunnel syndrome (CTS) is among one of the most common findings in MPS I, whilst CTS is very uncommon in infancy and young adulthood. Objective: To ascertain the prevalence of MPS-I among children and young adults (≤ 30 years) diagnosed with CTS in our population. To get an early diagnosis of MPS-I patients. Material and Methods: This is a cross-sectional prospective study of a cohort of patients with an electromyogram-confirmed diagnosis of CTS. Our total population is over 600,000 people of an urban area of Madrid. We searched for children and young adults with suggestive symptoms of CTS. χ2 for categorical variables and Student “t” analysis or Anova test for quantitative variables were used. Results: 12 patients were included, 10 females, range 8-28 years, mean 23, median 23.5. Two patients had a low α-L-Iduronidase activity. Nonetheless, the results of confirmatory test of enzymatic activity of α-L-Iduronidase in lymphocytes were negative in both cases. Conclusions: We did not find any MPS-I in our series of CTS in children and young adults. Larger series will be needed to ascertain if this approach is valid for early diagnosis of MPS-I in the paediatric population.

scholarly journals Amyloidotic muscle pseudohypertrophy: case report

2001 ◽  
Vol 59 (3A) ◽  
pp. 582-586 ◽  
Author(s):  
Rosana Herminia Scola ◽  
Lineu Cesar Werneck ◽  
Cássio Slompo Ramos ◽  
Ricardo Pasquini ◽  
Hans Graf ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Bone Marrow Transplantation ◽  
Carpal Tunnel Syndrome ◽  
Carpal Tunnel ◽  
Muscle Hypertrophy ◽  
Type I ◽  
Subjective Improvement ◽  
Tunnel Syndrome ◽  
Bilateral Carpal Tunnel Syndrome

The authors report one case of amyloidosis associated with muscular pseudohypertrophy in a 46-year-old woman, who developed weakness, macroglossia and muscle hypertrophy associated with primary systemic amyloidosis. Electromyography showed a myopathic pattern and bilateral carpal tunnel syndrome. The muscle biopsy presented with a type I and II fiber hypertrophy and infiltration of amyloid material in the interstitious space and artery walls. She underwent bone marrow transplantation with stabilization and subjective improvement of the clinical picture.

Carpal Tunnel Syndrome – Is High-Frequency Ultrasound a Useful Diagnostic Tool?

2003 ◽  
Vol 28 (1) ◽  
pp. 77-79 ◽  
Author(s):  
L. LEONARD ◽  
A. RANGAN ◽  
G. DOYLE ◽  
G. TAYLOR
Keyword(s):  
Carpal Tunnel Syndrome ◽  
Median Nerve ◽  
Carpal Tunnel ◽  
Hospital Setting ◽  
Confirmatory Test ◽  
High Frequency Ultrasound ◽  
Cross Sectional ◽  
Predictive Values ◽  
Epidemiological Surveys ◽  
Tunnel Syndrome

This study assessed the clinical use of three ultrasound measurements; median nerve cross-sectional area, median nerve flattening ratio and palmar displacement of the flexor retinaculum, for the diagnosis of carpal tunnel syndrome. The measurements were made in 20 carpal tunnel sufferers and 20 controls. The sensitivity, specificity and predictive values of each were calculated in various clinical settings. Values for each of the three variables were significantly different in the patient and control populations. The differences we recorded were smaller than those found in previous studies. The tests had a sensitivity of 72% and a specificity of 90%. Alterations in the morphology of the carpal tunnel in patients with carpal tunnel syndrome can be measured in the district general hospital setting. The measurements described maybe a useful non-invasive confirmatory test in patients in whom there is a strong clinical suspicion of carpal tunnel syndrome. However, they would be of no benefit in epidemiological surveys of populations with a low incidence of carpal tunnel syndrome.

scholarly journals MPS I-H/S with carpal tunnel syndrome - Case report.

1983 ◽  
Vol 31 (3) ◽  
pp. 689-692
Author(s):  
I. Katsuki ◽  
N. Kaibara ◽  
T. Kojima ◽  
T. Takagishi ◽  
T. Kure ◽  
...  
Keyword(s):  
Case Report ◽  
Carpal Tunnel Syndrome ◽  
Carpal Tunnel ◽  
Tunnel Syndrome ◽  
Mps I

scholarly journals Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies

2020 ◽  
Vol 22 (3) ◽  
pp. 507-515 ◽  
Author(s):  
Agnese Milandri ◽  
Andrea Farioli ◽  
Christian Gagliardi ◽  
Simone Longhi ◽  
Fabrizio Salvi ◽  
...  
Keyword(s):  
Carpal Tunnel Syndrome ◽  
Early Diagnosis ◽  
Carpal Tunnel ◽  
Cardiac Amyloidosis ◽  
Prognostic Role ◽  
Tunnel Syndrome

scholarly journals Carpal tunnel syndrome in pediatric mucopolysaccharidoses

2015 ◽  
Author(s):  
Trupti Mangesh Jadhav ◽  
Andrew J Kornberg ◽  
Heidi Peters ◽  
Joy Lee ◽  
Monique M Ryan
Keyword(s):  
Carpal Tunnel Syndrome ◽  
Median Nerve ◽  
Carpal Tunnel ◽  
Hand Function ◽  
Significant Loss ◽  
Mps Ii ◽  
Tunnel Syndrome ◽  
Median Nerve Decompression ◽  
Mps I ◽  
Mps Iii

BackgroundCarpal tunnel syndrome (CTS) is rare in children but is a recognised complication of the mucopolysaccharidoses (MPS). Clinicians should have a low threshold of suspicion for CTS in this group as symptoms may be atypical or minimal. If untreated, CTS can cause significant loss of hand function. We present findings in 11 children with mucopolysaccharidoses and suspected CTS, and propose guidelines for screening for CTS in children with these disorders.MethodsClinical and electrodiagnostic data of 11 children with mucopolysaccharidoses, who were suspected on clinical grounds to have CTS, was reviewed. All subjects underwent motor and sensory conduction studies of bilateral median and ulnar nerves. The presence of carpal tunnel syndrome and its severity was determined. Subsequent details of intervention(s) and recurrence were noted.ResultsThree children had MPS I, five had MPS II, one had MPS III and two had MPS IV. Seven had motor and three sensory features referable to median nerve compression. Nine of the eleven children (2/3 with MPS I, 5/5 with MPS II, 0/1 with MPS III, 2/2 with MPS IV) had median neuropathies at the wrist, (eight bilateral, one unilateral) which were mild in three, moderate in five, and severe in one. Three children presented with symptoms at five years age. Six underwent median nerve decompression. Four of these had recurrent symptoms several years after surgery, which was confirmed on nerve conduction studies in two cases. To the best of our knowledge, this is the first report of carpal tunnel syndrome in MPS IV. ConclusionSome children with mucopolysaccharidoses experience early development of at least moderately severe carpal tunnel syndrome. We recommend screening for median neuropathies at the wrist from age 5 years for children with mucopolysaccharidoses, particularly types I, II and IV, regardless of their symptoms of CTS, and of the treatment received for mucopolysaccharidosis.

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