Therefore, the case that is presented in this report is unique. An 18-year-old woman was admitted to our department because she presented with morning stiffness, joint deformation, and swelling in both hands. [ncbi.nlm.nih.gov]

Cataracts are present in 76% cases and are generally seen as early as 5-6 years of age. [1] Seizures are encountered in 40-50% cases, and can be the presenting problem in some cases. A sensory-motor neuropathy has also been documented. [neurologyindia.com]

Infants may present with cholestasis and liver dysfunction. Xanthomata may appear in the 2nd or 3rd decade of life, in the Achilles and other tendons (elbow, hand, patella, neck). [orpha.net]

We present a case of a 30 year old male who presented with mental retardation and swelling of ankles, with the a spectrum of CTX imaging findings. [radiologycases.com]

• Soft Tissue Swelling

  Computed tomography of the right hand showed soft tissue swelling on multiple small joints, including metacarpophalangeal and proximal interphalangeal joints, but without obvious bone destruction. [ncbi.nlm.nih.gov]

  A single soft tissue swelling was present on the Achilles tendon. CT scan showed hypodensity in bilateral cerebellar white matter and brainstem. [neurologyindia.com]

  […] radiographs of both ankles shows soft tissue swellings over posterior aspect of both ankles without any signs of calcification (arrows) Click here to view Provisional diagnosis of CTX was made based on the presence of tendon xanthomas along with cataracts [idoj.in]

  Radiographs showed homogenous soft tissue shadow in the area of tendoachilles in both his lower legs. MRI showed homogenous hyperintense signals with fusiform swellings of tendoachilles [Figure 3] and [Figure 4]. [jdrntruhs.org]

• Pseudotumor

  Mostly known as pseudotumors, xanthomas consist of connective tissue containing mainly cholesterol, triglycerides, and numerous foamy macrophages. [ncbi.nlm.nih.gov]

  Cataracts and pseudotumor cerebri in an infant with vitamin D-deficiency rickets. J Ped. 1977;90(2):252-254. Jobling AI, Augusteyn RC. What causes steroid cataracts? A review of steroid-induced posterior subcapsular cataracts. [eyewiki.aao.org]

• Osteopenia

  Osteopenia is evident by total body densitometry in untreated individuals. Individuals may have marked thoracic kyphosis. [leukodystrophyresourceresearch.org]

• Xanthoma

  Xanthomas are described as deposits in the skin and subcutaneous tissues. Mostly known as pseudotumors, xanthomas consist of connective tissue containing mainly cholesterol, triglycerides, and numerous foamy macrophages. [ncbi.nlm.nih.gov]

  Wikipedia: Xanthoma | xanthomas | xanthomata | xanthomatosis a deposition of yellowish cholesterol-rich material in tendons or other body parts in various disease states. [memidex.com]

  Tendon xanthomas may cause discomfort and interfere with tendon flexibility. While many affected people develop tendon xanthomas, these nodules may not be easily visible underneath the skin. [ghr.nlm.nih.gov]

  Xanthomas are rarely seen before the second decade. Our case also had a history of tendon xanthomas arising in the 2 nd decade. [idoj.in]

Results : Laboratory workup revealed cholestanol of 19.6 mmol/L (Reference: 2-12 mmol/L) increased cholestanol/cholesterol rate of 4.55 ( Reference : 0.16 +/- 0.05 ) and increased cerebrospinal fluid albumin of 24.4 mg dL (Reference: up to 3.5). [mdsabstracts.org]

MRI studies of the brain are an important component of the diagnostic workup for CTX. It may show bilateral hyperintensity of the dentate nuclei and cerebral and cerebellar white matter. [eyewiki.aao.org]

• Hypercholesterolemia

  Two unrelated individuals were referred to Lipid Clinics in The Netherlands and Chile with extreme xanthomatosis and hypercholesterolemia. [ncbi.nlm.nih.gov]

  Familial dysbetalipoproteinemia Homozygous apoA-I deficiency Intertriginous Familial homozygous hypercholesterolemia Cholestasis Diffuse Monoclonal gammopathies, cholestasis Familial hypercholesterolemia Xanthelasma Familial dysbetalipoproteinemia Monoclonal [plasticsurgerykey.com]

Dermatologische Wochenschrift 154(21): 484-492, 1968 Renal insufficiency and its dietetic treatment. II. Treatment results and dietetic indications for practice. [m.eurekamag.com]

Management and treatment First-line treatment is based on chenodeoxycholic acid (CDCA) replacement therapy, which normalizes BAS and cholestanol concentrations, and improves neurological symptoms. [orpha.net]

Current evidence for the prevention and screening, diagnosis, and treatment of dyslipidemia are available for the clinicians. Copyright © 2011 Elsevier Ltd. All rights reserved. [ncbi.nlm.nih.gov]

Treatment Treatment Options: This is a treatable disorder in which administration of chenodeoxycholic acid (CDCA) is beneficial. This compound is virtually absent from bile in people with CTX. [disorders.eyes.arizona.edu]

Prognosis Early diagnosis and treatment are crucial to prevent progressive accumulation of cholestanol and cholesterol: disease progression may be halted and in some cases reversed. Treated patients may have a normal lifespan. [orpha.net]

Treatment Early diagnosis and long-term treatment with a medication called chenodeoxycholic acid improves neurological symptoms and contributes to a better prognosis. [geneticdisordersuk.org]

Conclusion: Cerebrotendinous xanthomatosis commonly manifests with bilateral swollen tendoachilles, which is actually a part of systemic pathology with poor prognosis. [jocr.co.in]

Behavioral/personality disturbance in childhood or adolescence, especially when accompanied by learning difficulties, should therefore lead to further investigation to exclude CTX, as early diagnosis and treatment is critical for prognosis. [nature.com]

Prognosis If cerebrotendinous xanthomatosis is untreated, life expectancy is into the fifth and sixth decades; however, confirmed deaths have been reported as early as age 4 months. This is a progressive and terminal disease if left untreated. [emedicine.medscape.com]

Multiple myeloma and histiocytosis X are less common etiologies. The patient pictured here has biliary cirrhosis. Source: Color Atlas of Pediatric Dermatology Samuel Weinberg, Neil S. [medicinenet.com]

McKee's Pathology of the Skin is the most complete, in-depth resource on dermatopathology, covering etiology, pathogenesis, disease mechanisms, and recent genetic, molecular, and basic science data. Drs. J. [books.google.es]

Etiology CTX is caused by mutations in the sterol 27-hydroxylase gene ( CYP27A1 ; 2q33-qter). Sterol 27-hydroxylase catalyzes the first step in the oxidation of the side-chain of sterol intermediates in the bile acid synthesis (BAS) pathway. [orpha.net]

ETIOLOGY – GENETICS CYP27A1 gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome 2q33-qter and contains nine exons. [flipper.diff.org]

Surgery should not be the option for the tendon xanthomata without the confirmation of its etiology as it could be a part of a systemic pathology. References 1. Kuriyama M, Fujiyama J, Yoshidome H, et al. [jocr.co.in]

Summary Epidemiology More than 300 patients have been reported worldwide. Prevalence is estimated to be approximately 1/50,000 among Caucasians. [orpha.net]

[…] xanthomatosis using bile alcohol glucuronides and metabolite ratios. ( 28314860 ) Vaz F.M....Huidekoper H.H. 2017 29 Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. ( 28623566 ) Chen C....Ding Z.T. 2017 30 Epidemiology [malacards.org]

EPIDEMIOLOGY Currently there is no consensus on the prevalence of CTX, one estimate being Genetic islands of increased CYP27A1 mutation frequency exist; for example, there is an estimated disease prevalence of 1:440 for the Druze population in Israel. [flipper.diff.org]

This finding provides additional evidence that cerebrotendinous xanthomatosis is a primary neuronal disorder. [14] Epidemiology Frequency More than 300 patients have been diagnosed worldwide, with an estimated prevalence of 1 case per 50,000 individuals [emedicine.medscape.com]

Harmonizing the Metabolic Syndrome: A Joint Interim Statement of the International Diabetes Federation Task Force on Epidemiology and Prevention; National Heart, Lung, and Blood Institute; American Heart Association; World Heart Federation; International [revistagastrocol.com]

[…] skin EB90 Dermatoses resulting from disturbed metabolic processes H01661 黄色腫 治療薬 プロブコール [DR: D00476 ] リンク ICD-11: EB90.2 ICD-10: E75.5 E78 MeSH: D014973 OMIM: 602247 文献 PMID: 24781043 著者 Zak A, Zeman M, Slaby A, Vecka M タイトル Xanthomas: clinical and pathophysiological [genome.jp]

48 Gastric Xanthomatosis: A Rare Presentation of a Common Disorder. ( 26905903 ) Wu J.H. 2016 49 Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis. ( 27771677 ) Kulkarni S.D....Sayed R. 2016 50 Pathophysiology [malacards.org]

In 1980, defects in mitochondrial sterol 27-hydroxylase were implicated in the biochemical pathophysiology of the disease by Oftebro et al. In 1991, mutations in the gene CYP27A1 were discovered as causative... [flipper.diff.org]

Pathophysiology The primary enzymatic defect in cerebrotendinous xanthomatosis is in mitochondrial sterol 27-hydroxylase, a key enzyme in the complicated process of bile acid synthesis from cholesterol. [emedicine.medscape.com]

In 1980, defects in mitochondrial 27-hydroxylase were implicated in the biochemical pathophysiology of the disease by Oftebro et al [7]. In 1991, mutations in the gene CYP27A1 were discovered as causative [8,9,10]. [jocr.co.in]

Current evidence for the prevention and screening, diagnosis, and treatment of dyslipidemia are available for the clinicians. Copyright © 2011 Elsevier Ltd. All rights reserved. [ncbi.nlm.nih.gov]

Sources: National Diabetes Information Clearinghouse: “Prevent diabetes problems: Keep your feet and skin healthy.“ American Diabetes Association: “Skin Complications.” [webmd.com]

Eye care professionals are in a unique position to identify and diagnose CTX at a time when serious disability can be prevented. [eyewiki.aao.org]

If CTX is diagnosed before there has been too much deterioration of the brain, proper treatment can potentially prevent the brain damage that can lead to severe mental dysfunction and eventually death. [ulf.org]

Emphasis is added to preventive care and to treatment of the medically compromised patient. An Evolve website includes case studies, an image library, links to ADEA, ADA, and CDC reports on pediatric dentistry, and other web links. [books.google.es]