Rare Diseases

Current bibliography for experts

"Cholestanol" search results...

CTX

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia

2023-03-07

This report discusses the case of a middle-aged Cerebrotendinous Xanthomatosis (CTX) patient with an unusual phenotype of behavioral variant frontotemporal dementia (bvFTD).

CTX

A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene

2023-01-11

This article describes a rare case of cerebrotendinous xanthomatosis (CTX) disorder associated with a mutation on COG8 gene, which presented by unusual symptoms.

CTX

Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure

2022-09-26

This article presents an instance of cerebrotendinous xanthomatosis (CTX) manifest as neonatal cholestasis (NC) and requiring liver transplantation (LT).

CTX

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene

2022-05-01

This case report emphasizes the necessity of keeping a high index of suspicion as the key to a timely diagnosis of cerebrotendinous xanthomatosis (CTX), which has a clinical diversity and, if detected early, the favorable treatment response.

CTX

Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey

2021-10-25

The aim of this study was to determine the prevalence of cerebrotendinous xanthomatosis (CTX) in patients with idiopathic bilateral juvenile cataract in Turkey.

CTX

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

2021-01-08

In this study reports two siblings who have cerebrotendinous xanthomatosis (CTX). The atypical biochemical presentation of these cases emphasizes the importance of a comprehensive investigation of patients with symptomatology consistent with CTX.

CTX

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review

2020-11-06

This article is a case study that includes a Chinese family with Cerebrotendinous xanthomatosis (CTX) which had one patient and four heterozygous carriers. The clinical, biological, radiological, and genetic characteristics of CTX are summarized in order to aid in early detection and treatment. This study emphasizes that genetic analysis of the CYP27A1 gene should be the gold standard for CTX diagnosis.

CTX

Cerebrotendinous xanthomatosis: A report of 3 cases

2020-10-16

In this article, three cases of cerebrotendinous xanthomatosis with similar clinical symptoms are presented to demonstrate the necessity of early diagnosis.

CTX

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis

2019-01-01

Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In CTX disease, early diagnosis and treatment is crucial in preventing clinical deterioration.

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