Bilateral Achilles Tendon Xanthomas in a Patient with Cerebrotendinous Xanthomatosis

2017 ◽  
Vol 107 (1) ◽  
pp. 85-89 ◽  
Author(s):  
Mustafa Karakaplan ◽  
Emre Ergen ◽  
Gökay Görmeli ◽  
Mehmet Fatih Korkmaz ◽  
Nurzat Elmalı
Keyword(s):  
Achilles Tendon ◽  
Female Patient ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Lipid Storage ◽  
Cerebrotendinous Xanthomatosis ◽  
Flexor Hallucis Longus ◽  
Lipid Storage Disease ◽  
Longus Tendon ◽  
Motion Function

Cerebrotendinous xanthomatosis is a rare, autosomal recessive, lipid storage disease with accumulation of cholestanol in most tissues, particularly in the Achilles tendons. We described a 23-year-old female patient who had progressive painfull swelling of both Achilles tendons due to cerebrotendinous xanthomatosis. We performed surgery on both-side Achilles tendon tumors. Wide degenerative areas of the tendons were resected, and the flexor hallucis longus tendon was harvested and transferred to reconstruct motion function.

scholarly journals Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Qing-Qing Tao ◽  
Yun Zhang ◽  
Hui-Xia Lin ◽  
Hai-Lin Dong ◽  
Wang Ni ◽  
...  
Keyword(s):  
Chinese Population ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Clinical Manifestations ◽  
Cerebrotendinous Xanthomatosis ◽  
Chinese Patients ◽  
Lipid Storage Disease ◽  
Genetic Characteristics ◽  
Pathogenic Mutations ◽  
Autosomal Recessive Pattern

Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have been reported in the Chinese population. Results Three novel likely pathogenic mutations (c.368_374delCCAGTAC, c.389 T > A and c.571C > T) and 7 previously reported pathogenic mutations (c.379C > T, c.435G > T, c.1016C > T, c.1214G > A, c.1263 + 1G > A, c.1420C > T and c.1435C > T) were identified. In addition, we summarized the genotypes and phenotypes of reported Chinese CTX patients. The most predominant mutations in CYP27A1 were c.410G > A and c.379C > T, and the most common clinical manifestations were pyramidal signs, xanthomatosis, cerebellar ataxia, and cognitive impairment. Conclusion Our study broadens the genetic and clinical spectrum of CTX and provides insightful information to help better diagnose and understand the disease.

Cerebrotendinous xanthomatosis revisited

2021 ◽  
pp. practneurol-2020-002895
Author(s):  
Seyed Mohammad Baghbanian ◽  
Mohammad Reza Mahdavi Amiri ◽  
Hadi Majidi
Keyword(s):  
Autosomal Recessive ◽  
Lipid Storage ◽  
Cerebrotendinous Xanthomatosis ◽  
Progressive Ataxia ◽  
Progressive Neurodegeneration ◽  
Prompt Diagnosis

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.

scholarly journals Flexor hallucis longus tendon transfer for chronic Achilles tendon rupture. A retrospective study

2019 ◽  
Vol 25 (5) ◽  
pp. 630-635 ◽  
Author(s):  
Ole Kristian Alhaug ◽  
Gøran Berdal ◽  
Elisabeth Ellingsen Husebye ◽  
Kjetil Hvaal
Keyword(s):  
Retrospective Study ◽  
Achilles Tendon ◽  
Tendon Transfer ◽  
Tendon Rupture ◽  
Achilles Tendon Rupture ◽  
Flexor Hallucis Longus ◽  
Longus Tendon

Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient

2005 ◽  
Vol 36 (3) ◽  
pp. 171-180 ◽  
Author(s):  
M. Elleder ◽  
M. Jeřábková ◽  
A. Befekadu ◽  
M. Hřebíček ◽  
L. Berná ◽  
...  
Keyword(s):  
Storage Disease ◽  
Lipid Storage ◽  
Lipid Storage Disease

scholarly journals Novel Techniques in Treating Calcaneal Tuberosity Fractures

2014 ◽  
Vol 4 (1) ◽  
pp. 3-7
Author(s):  
Selene G Parekh ◽  
Todd Bertrand ◽  
Robert Zura ◽  
Samuel Adams ◽  
Alan Yan
Keyword(s):  
Internal Fixation ◽  
Achilles Tendon ◽  
Open Reduction ◽  
Tendon Transfer ◽  
Flexor Hallucis Longus ◽  
Suture Anchors ◽  
Calcaneal Fractures ◽  
Longus Tendon ◽  
K Wires ◽  
Calcaneal Tuberosity

ABSTRACT Calcaneal tuberosity fractures comprise only 1 to 2% of all calcaneal fractures. Treatment of these injuries has traditionally included open reduction and internal fixation with various means including lag screws, suture anchors and K-wires. We report on a series of cases treated with excision of the tuberosity fragment with repair of the Achilles tendon supplemented by a flexor hallucis longus tendon transfer. Parekh S, Bertrand T, Zura R, Adams S, Yan A. Novel Techniques in Treating Calcaneal Tuberosity Fractures. The Duke Orthop J 2014;4(1):3-7.

Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant

2018 ◽  
Vol 28 (7) ◽  
pp. 606-609 ◽  
Author(s):  
Caitlin S. Latimer ◽  
Jennifer Schleit ◽  
Adam Reynolds ◽  
Desiree A. Marshall ◽  
Benjamin Podemski ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Lipid Storage ◽  
Phenotypic Characterization ◽  
Lipid Storage Disease ◽  
Neutral Lipid Storage Disease
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