scholarly journals Cerebrotendinous Xanthomatosis, A Rare Metabolic Disease

2012 ◽  
Vol 13 (1) ◽  
pp. 92-93
Author(s):  
Mahmudur Rahman Siddiqui ◽  
Md Sahriar Mahbub ◽  
Quazi Tarikul Islam
Keyword(s):  
Metabolic Disease ◽  
Young Adult ◽  
Male Patient ◽  
Storage Disease ◽  
Cerebrotendinous Xanthomatosis ◽  
Neurological Dysfunction ◽  
Adult Onset ◽  
Childhood Onset ◽  
Lipid Storage Disease ◽  
Psychiatric Disturbances

Cerebrotendinous xanthomatosis (CTX) is a rare genetic lipid storage disease. CTX is characterised by childhood-onset cataract, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs and seizures). A 32-year-old male patient presented to us with the features of this rare genetic metabolic disorder.DOI: http://dx.doi.org/10.3329/jom.v13i1.8690 JOM 2012; 13(1): 92-93

scholarly journals Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Miyuki Miyamoto ◽  
Nobuyuki Ishii ◽  
Hitoshi Mochizuki ◽  
Kazutaka Shiomi ◽  
Tomoko Kaida ◽  
...  
Keyword(s):  
Optic Neuritis ◽  
Optic Neuropathy ◽  
Storage Disease ◽  
Elevated Serum ◽  
Brain Magnetic Resonance Imaging ◽  
Cerebrotendinous Xanthomatosis ◽  
Gadolinium Enhancement ◽  
Lipid Storage Disease ◽  
Optic Disc Swelling ◽  
The Right

We describe our encounter with a 39-year-old man who exhibited acute painless visual loss and progressive gait disturbance. He had tendinous xanthoma and several neuroophthalmological findings indicative of optic neuropathy in the right eye, including afferent pupillary defect, cecocentral scotoma, and optic disc swelling. Neurological examination showed cerebellar ataxia and pyramidal weakness. Brain magnetic resonance imaging revealed bilateral swelling in the optic nerves with gadolinium-enhancement suggesting optic neuritis, an enlarged fourth ventricle, atrophy of the cerebellum, and hyperintensities in the bilateral dentate nuclei. The patient was diagnosed with cerebrotendinous xanthomatosis (CTX) based on an elevated serum cholestanol level and a homozygous missense mutation in CYP27A1. CTX is a genetic lipid storage disease caused by dysfunction of the mitochondrial enzyme sterol 27-hydroxylase. With respect to ophthalmological manifestations, juvenile cataracts and optic neuropathy are common findings in patients with CTX, but there have been no reports of optic neuropathy with features suggestive of optic neuritis. Thus, this case illustrates that clinicians should consider a diagnosis of CTX in patients with cardinal features of CTX even if the patients show signs indicative of optic neuritis.

scholarly journals EXTENSIVE EXPERTISE IN ENDOCRINOLOGY: UK stance on adult GH replacement: the economist vs the endocrinologist

2013 ◽  
Vol 169 (4) ◽  
pp. R81-R87 ◽  
Author(s):  
S M Shalet
Keyword(s):  
Young Adult ◽  
Economic Model ◽  
Gh Deficiency ◽  
Adult Onset ◽  
Middle Aged ◽  
Childhood Onset ◽  
Biochemical Evidence ◽  
Gh Replacement ◽  
Age Dependent ◽  
The Uk

In the UK, through the use of a forced economic model, endocrinologists are in the curious position of offering GH replacement to some patients with severe GH deficiency (GHD) but withholding it from other patients with even more severe GHD. This approach is counter-intuitive to endocrine practice in treating endocrine deficiency states. For all other endocrine deficiencies, one would opt for treating those with the most severe biochemical evidence of deficiency first. If this endocrine approach was applied to adult GH replacement in an era of rationing, one would start with the GHD patients with a pathologically low IGF1 level. Given that the prevalence of subnormal IGF1 levels in a GHD population is age-dependent, this would result in GH replacement being offered to more young adult onset (AO) GHD and childhood onset GHD adults, and less often to middle-aged and elderly AO GHD adults. This in itself has the added advantage that the skeletal benefits appear more real in the former cohort of patients.

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.

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 Social, educational and vocational outcomes in patients with childhood-onset and young-adult-onset growth hormone deficiency

2017 ◽  
Vol 86 (4) ◽  
pp. 526-533 ◽  
Author(s):  
M. Tanya Mitra ◽  
Peter Jönsson ◽  
Ann-Charlotte Åkerblad ◽  
Peter Clayton ◽  
Maria Kołtowska-Häggström ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Young Adult ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Adult Onset ◽  
Childhood Onset ◽  
Vocational Outcomes

Mitochondria microcrystals deposition in some inherited diseases of lipid metabolism.

1978 ◽  
Vol 36 (2) ◽  
pp. 256-257
Author(s):  
S. Laoussadi ◽  
A. Kahan ◽  
G. Aubouy ◽  
F. Delbarre
Keyword(s):  
Synovial Tissue ◽  
Storage Disease ◽  
Metabolic Diseases ◽  
Uranyl Acetate ◽  
List Type ◽  
Type Ii ◽  
Type Number ◽  
Lipid Storage Disease ◽  
Thin Sections ◽  
Mean Size

Several patients with Fabry's, Gaucher's diseases and hyperlipoproteinemia type II and with arthropatic manifestations were observed.As no histological explanation for these symptoms was available,an ultrastructural study of synovial tissue was done to establish an anatomoclinical relation.Material and Methods :synovial membrane samples were obtained by needle biopsies of the knee from three patients with arthropatic manifestations of each disease.They were fixed in 5% glutaraldehyde, postfixed in 1% osmium tetraoxyde and embedded in Epon 812. Thin sections coloured by uranyl acetate and lead citrate were observed with an Elmiskop I Siemens electron microscope.Two important phenomena were observed in synovial tissue:Specific patterns of each lipid storage disease,which are now well known.In all the three metabolic diseases, hydroxyapatite-like crystals were found. They are characterized by their intramitochondrial localization, without any relation with cristae,an anarchic disposition and a mean size of 550 A.Crystals may be found also free in the cytoplasm of synoviocytes Some micrographs suggest an evolution in four steps :a. mitochondria with only a few microcrystalsb. mitochondria stuffed with these structuresc. disruption of mitochondria membranesd. microcrystals appear free in the cytoplasm

Adult-Onset Atopic Dermatitis: Presentations and Progress

2020 ◽  
Vol 24 (3) ◽  
pp. 267-272
Author(s):  
Airiss R. Chan ◽  
Vijay K. Sandhu ◽  
Aaron M. Drucker ◽  
Patrick Fleming ◽  
Charles W. Lynde
Keyword(s):  
Atopic Dermatitis ◽  
Immune Dysregulation ◽  
Upper Limbs ◽  
Adult Onset ◽  
Barrier Dysfunction ◽  
Childhood Onset ◽  
Exclusion Criteria ◽  
Body Regions ◽  
Chronic Skin ◽  
Chronic Skin Disease

Atopic dermatitis (AD) is a chronic skin disease characterized by barrier dysfunction and immune dysregulation that affects approximately 20% of children and 2-5% of adults worldwide. Traditionally, AD has been considered a disease of childhood with many cases resolving before adulthood. However, in recent years, the prevalence of adult AD is increasingly recognized to be substantial, but it is uncertain whether this increase is due to increased childhood-persistent or relapsed AD, or new adult-onset AD. This highlights a need for further investigation into the adult AD population and evaluation of phenotypes in the adult-onset cohort. In this literature review, we examine five studies focused on adult-onset AD phenotype, conducted between 2013 and 2017. The most commonly reported body regions affected in adult-onset AD were the hands, eyelids, neck, and flexural surfaces of the upper limbs. These vary from childhood-onset AD findings, which are less specific to body regions other than flexural areas. These findings have implications for diagnostic accuracy and treatment of AD, including considerations for therapeutic choices and inclusion and exclusion criteria in clinical trials.

Childhood-onset scleroderma: Is it different from adult-onset disease?

1996 ◽  
Vol 39 (6) ◽  
pp. 1041-1049 ◽  
Author(s):  
Rama Vancheeswaran ◽  
Carol M. Black ◽  
Joel David ◽  
Nathan Hasson ◽  
John Harper ◽  
...  
Keyword(s):  
Adult Onset ◽  
Childhood Onset
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