Imagerie de la xanthomatose cérébrotendineuse

Nagi, S.; Bouchriha, M.; Sebai, R.; Marrakchi-Turki, Z.; Zouaoui, W.; Mrabet, H.; Megdiche, H.; Slama, C. Ben; Touibi, S.

doi:10.1016/s0221-0363(06)74169-5

Cited by 4 publications

(2 citation statements)

References 10 publications

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“…Since the first description in 1937 by Bogaert, several hundred cases have been reported in the literature in Asia, in the United States of America, and in Europa, but little cases in Africa [ 3 , 7 ]. To our knowledge, only one case was reported in Tunisia [ 5 ]. A genetic study, using a large cohort of adults from global populations, estimated incidence of CTX was the highest in South Asians and East Asians, followed by North Americans, Europeans, and Africans [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

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Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report

Ghassem

Mounach

Djossou

et al. 2021

Case Reports in Rheumatology

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Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX. A 20-year-old woman was presented in our department for bilateral swelling of the posterior aspect of ankles and the anterior aspect knees with gait disturbances evolving since the age of 7. The patient was the first child of consanguineous marriage. She had bilateral cataracts and developmental delay. Laboratory findings revealed that the plasma cholestanol level was remarkably elevated, and plasma and urine bile alcohol levels were elevated. MRI of ankles showed a bilateral diffuse thickening of the Achilles tendon with hypointense in T1 and heterogeneous hypersignal in T2 with spots in hypersignal in T1 and T2. Brain MRI revealed bilateral and symmetrical T2 hypersignal of dentate nuclei, without white matter signal alterations or cerebral or cerebellar atrophy. A biopsy obtained of the Achilles swelling with a histological study showed an aspect of tendon xanthoma. Hence, the diagnosis of CTX was made. MRI, especially brain MRI, plays an important role in the diagnosis of CTX.

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Section: Discussionmentioning

confidence: 99%

“…Since the first description in 1937, several hundred cases have been reported in the literature in Asia, in the United States of America, and in Europa, but little cases in Africa [ 3 , 4 ]. To our knowledge, only one case was reported in Tunisia [ 5 ]. Therefore, we report a Moroccan first case report of CTX.…”

Section: Introductionmentioning

confidence: 99%

Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report

Ghassem

Mounach

Djossou

et al. 2021

Case Reports in Rheumatology

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Pathologie de la substance blanche

Dietemann¹,

Koob²,

Kremer³

et al. 2018

Neuro-Imagerie Diagnostique

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Cerebrotendinous Xanthomatosis: A Critical Update

et al. 2008

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Cerebrotendinous xanthomatosis (CTX) also known as van Bogaert–Scherer–Epstein syndrome, Thiebaut’s syndrome and cerebrotendinous cholesterosis, is an autosomal-recessive lipid-storage disease characterized by the triad of juvenile cataracts, tendon xanthomas and progressive neurodegeneration. Excess cholesterol and cholestanol are deposited in multiple organs, including the cerebrum, cerebellum, lens and tendons. Approximately 300 cases are reported worldwide, but it is suspected that the incidence of CTX is underestimated. The disease is attributed to approximately 50 mutations in the CYP27A1 gene coding for the enzyme sterol 27-hydoxylase, which is responsible for initial oxidation of the side chain of the cholesterol molecule in bile acid biosynthesis. CTX has varied clinical presentations, but no genotype–phenotype relationship has been documented. In some intrafamilial cases, clinical presentations may vary considerably. MRI for CTX is sensitive for diagnosis and classically demonstrates cerebral and cerebellar atrophy and xanthomatous lesions preferentially affecting the dentate nuclei. Patients have high serum levels of cholestanol with normal total cholesterol and increased urinary excretion of bile acids. Treatment of patients with chenodeoxycholic acid, particularly when used along with HMG-CoA reductase inhibitors (statins) or low-density lipoprotein apheresis, can normalize cholestanol levels as well as prevent further degeneration. Therefore, the need for early diagnosis is well documented in the literature, as it prevents the significant morbidity and mortality associated with this disease.

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Imagerie de la xanthomatose cérébrotendineuse

Cited by 4 publications

References 10 publications

Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report

Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report

Pathologie de la substance blanche

Cerebrotendinous Xanthomatosis: A Critical Update

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