Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition

Orabona, Giuseppina Dell’Aversano; Dato, Clemente; Oliva, Mariano; Ugga, Lorenzo; Dotti, Maria Teresa; Fratta, Mario; Gisonni, Pietro

doi:10.1259/bjrcr.20190047

Cited by 5 publications

(2 citation statements)

References 17 publications

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“…Achilles tendon xanthomas have also been found associated with some types of hyperlipidemia and chromosome mutations or with non-FH. [6] Careful clinical assessment of the Achilles tendon often lacks sensitivity. Different imaging modalities have been used to evaluate these xanthomas such as radiographs of particular joints or regions, CT, MRI, and ultrasound.…”

Section: Discussionmentioning

confidence: 99%

Imaging of bilateral tendoachilles xanthomatosis in a young woman

Devi

Machaiah

Pinto

et al. 2023

CRCR

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Bilateral tendoachilles xanthomatosis is a rare entity and is frequently found in association with the primary hyperlipidemia. It is characterized by the deposition of cholesterol in tendons. An early diagnosis with different imaging modalities changes the course of the disease. This case report illustrates the bilateral tendoachilles xanthomas on MRI imaging in a patient who presented with painless progressive swelling of bilateral ankle joints for several years. Intralesional subtotal resection was successfully done and histological evaluation further confirmed the diagnosis.

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Section: Discussionmentioning

confidence: 99%

Imaging of bilateral tendoachilles xanthomatosis in a young woman

Devi

Machaiah

Pinto

et al. 2023

CRCR

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“…Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid deposition disorder characterized by systemic signs and neurological dysfunction[ 1 ]. CTX is a treatable genetic metabolic disease, and early diagnosis and treatment can delay the progression of the disease to a considerable extent[ 2 ].…”

Section: Introductionmentioning

confidence: 99%

CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report

Li¹,

Zhou²,

Jin³

et al. 2022

WJCC

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BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by mutations in CYP27A1 . It has a low incidence rate, insidious onset, and diverse clinical manifestations. It can be easily misdiagnosed and can go unrecognized by clinicians, leading to delayed treatment and worsened patient outcomes. CASE SUMMARY A 38-year-old male was admitted to our hospital with a history of unabating unstable posture and difficulty in walking for more than 30 years. Subsequently based on the patient's medical history, clinical symptoms, magnetic resonance imaging and gene sequencing results, he was finally diagnosed with CTX. Due to the low incidence rate of the disease, clinicians have insufficient knowledge of it, which makes the diagnosis process more tortuous and prolongs the diagnosis time. CONCLUSION Prompt diagnosis and treatment of CTX improve patient outcomes.

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First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

et al. 2021

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Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by recessive variants in the cytochrome P450 CYP27A1 gene. CTX is said to manifest with childhood-onset chronic diarrhea and the classic triad of juvenile-onset cataracts, Achilles tendons xanthomas, and progressive ataxia. It is currently one of the few inherited neurometabolic disorders amenable to a specific treatment. The diagnosis may be significantly delayed resulting in permanent neurological impairment. A retrospective review of the clinical characteristics and diagnostic findings in case series of six Polish patients with CTX.Additional retrospective review of symptoms and pathogenic variants of 568 CTX available cases and case series from the past 20 years. To the best of our knowledge, this is the widest review of CTX cases reported in years 2000-2021. We report the largest cohort of Polish patients ever published, with the identification of two hot-spot mutations. During the review of available 568 cases, we found significant differences in the clinical phenotypes and the localization of variants within the gene between Asian and non-Asian populations. These findings may facilitate molecular testing in the Polish and Asian populations. Invariably better screening for CTX and wider awareness is needed.

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Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition

Cited by 5 publications

References 17 publications

Imaging of bilateral tendoachilles xanthomatosis in a young woman

Imaging of bilateral tendoachilles xanthomatosis in a young woman

CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

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