A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract

Abdel‐Hamid, Mohamed S.; Issa, Mahmoud Y.; Otaify, Ghada A.; Zaki, Maha S.

doi:10.1007/s11011-017-9971-x

Cited by 3 publications

(1 citation statement)

References 15 publications

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“…Childhood diarrhea and juvenile cataracts are the primary non-nervous system manifestations[ 5 ]. However, Abdel-Hamid et al [ 6 ] reported a case of CTX with tendon xanthomatosis and neurological impairment without obvious cataracts. Brain MRI typically reveals symmetrical lesions in the cerebellar white matter, especially the cerebellum.…”

Section: Discussionmentioning

confidence: 99%

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255 + 1G > T splice site mutation: A case report

Chang¹,

Yu²,

Li³

2022

World J Clin Cases

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BACKGROUND Cerebrotendinous xanthomatosis is an autosomal recessive disorder of lipid metabolism caused by the mutation of the CYP27A1 gene encoding sterol 27-hydroxylase, an essential enzyme for the conversion of cholesterol to chenodeoxycholic and cholic acids. Cerebrotendinous xanthomatosis is a rare neurological disease with a wide range of clinical symptoms that are easily misdiagnosed. CASE SUMMARY Here we report the clinical, biochemical, and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis. The patient developed ataxia and had the typical symptoms of juvenile cataracts, tendon xanthomata, and progressive nervous system dysfunction. Magnetic resonance imaging of the brain revealed bilateral dentate nucleus lesions and white matter abnormalities. This patient was misdiagnosed for 2 years resulting in severe neurological complications. After 2 years of chenodeoxycholic acid treatment, she still presented with ataxia and dysarthria. The pathogenic sites of CYP27A1 were identified as c.255+1G>T and c.1263+1G>T, which were both caused by shear denaturation. CONCLUSION Cerebrotendinous xanthomatosis requires a multidisciplinary diagnosis that must be made early to avoid progressive neurological degeneration. c.1263+1G>T is a known mutation, but c.255+1G>T is a rare mutation site.

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Section: Discussionmentioning

confidence: 99%

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255 + 1G > T splice site mutation: A case report

Chang¹,

Yu²,

Li³

2022

World J Clin Cases

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The clinical and imaging features of cerebrotendinous xanthomatosis

Ren

Wang

et al. 2021

Medicine

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Rationale: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid deposition disorder characterized by systemic signs and neurological dysfunction. The radiological features of CTX are infrequently summarized in the literature. Patient concerns: We described a 40-year-old male patient who repeatedly engaged in wrestling matches and presented with progressive difficulty in walking and reduced balance with egg-sized, hard, smooth, and painless masses in both ankles. Diagnosis: Neuroimaging examination showed abnormalities both supra- and infratentorially. Bilateral ankle joint magnetic resonance imaging showed bilateral xanthomata of the Achilles tendon. The diagnosis was confirmed by the detection of a sterol 27-hydroxylase gene mutation. Interventions: The patient was treated with chenodeoxycholic acid (250 mg 3 times per day). Outcomes: To date, the patient's bilateral xanthomas of the Achilles tendon have begun to diminish, and his neurological impairment has not deteriorated further but has not yet improved. Lessons: We report a rare case of CTX and summarize the clinical and imaging features of this disease. Our findings suggest that the abnormal signals in the dentate nucleus or a long spinal cord lesion involving the central and posterior cord, combined with tendon xanthoma, are important clues for the diagnosis of CTX.

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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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A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract

Cited by 3 publications

References 15 publications

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255 + 1G > T splice site mutation: A case report

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255 + 1G > T splice site mutation: A case report

The clinical and imaging features of cerebrotendinous xanthomatosis

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

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