Cerebrotendinous xanthomatosis: Early diagnosis on the basis of juvenile cataracts

Sapna Tibrewal, Paul Duell, Andrea De Barber, Allison Loh

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease characterized by a broad spectrum of clinical manifestations, including bilateral juvenile cataracts. Untreated CTX leads to progressive permanent neurologic decline and early death. Although symptoms begin in early childhood, diagnosis and replacement therapy with chenodeoxycholic acid is often delayed until adulthood. Frequently bilateral juvenile cataracts present in early childhood which provides ophthalmologists an opportunity to aid in early diagnosis and initiate treatment. We report the case of a child presenting with juvenile bilateral cataracts leading to the diagnosis of CTX. The morphology of cataracts and the effect of systemic treatment on its progression are described.

Original languageEnglish (US)
JournalJournal of AAPOS
DOIs
StateAccepted/In press - Jan 1 2017

Fingerprint

Cerebrotendinous Xanthomatosis
Cataract
Early Diagnosis
Chenodeoxycholic Acid
Nervous System
Therapeutics
Lipids

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

Cite this

Cerebrotendinous xanthomatosis : Early diagnosis on the basis of juvenile cataracts. / Tibrewal, Sapna; Duell, Paul; De Barber, Andrea; Loh, Allison.

In: Journal of AAPOS, 01.01.2017.

Research output: Contribution to journalArticle

@article{2fc9ef6042ae4868976f902a26f9cd09,
title = "Cerebrotendinous xanthomatosis: Early diagnosis on the basis of juvenile cataracts",
abstract = "Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease characterized by a broad spectrum of clinical manifestations, including bilateral juvenile cataracts. Untreated CTX leads to progressive permanent neurologic decline and early death. Although symptoms begin in early childhood, diagnosis and replacement therapy with chenodeoxycholic acid is often delayed until adulthood. Frequently bilateral juvenile cataracts present in early childhood which provides ophthalmologists an opportunity to aid in early diagnosis and initiate treatment. We report the case of a child presenting with juvenile bilateral cataracts leading to the diagnosis of CTX. The morphology of cataracts and the effect of systemic treatment on its progression are described.",
author = "Sapna Tibrewal and Paul Duell and {De Barber}, Andrea and Allison Loh",
year = "2017",
month = "1",
day = "1",
doi = "10.1016/j.jaapos.2017.07.211",
language = "English (US)",
journal = "Journal of AAPOS",
issn = "1091-8531",
publisher = "Mosby Inc.",

}

TY - JOUR

T1 - Cerebrotendinous xanthomatosis

T2 - Early diagnosis on the basis of juvenile cataracts

AU - Tibrewal, Sapna

AU - Duell, Paul

AU - De Barber, Andrea

AU - Loh, Allison

PY - 2017/1/1

Y1 - 2017/1/1

N2 - Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease characterized by a broad spectrum of clinical manifestations, including bilateral juvenile cataracts. Untreated CTX leads to progressive permanent neurologic decline and early death. Although symptoms begin in early childhood, diagnosis and replacement therapy with chenodeoxycholic acid is often delayed until adulthood. Frequently bilateral juvenile cataracts present in early childhood which provides ophthalmologists an opportunity to aid in early diagnosis and initiate treatment. We report the case of a child presenting with juvenile bilateral cataracts leading to the diagnosis of CTX. The morphology of cataracts and the effect of systemic treatment on its progression are described.

AB - Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease characterized by a broad spectrum of clinical manifestations, including bilateral juvenile cataracts. Untreated CTX leads to progressive permanent neurologic decline and early death. Although symptoms begin in early childhood, diagnosis and replacement therapy with chenodeoxycholic acid is often delayed until adulthood. Frequently bilateral juvenile cataracts present in early childhood which provides ophthalmologists an opportunity to aid in early diagnosis and initiate treatment. We report the case of a child presenting with juvenile bilateral cataracts leading to the diagnosis of CTX. The morphology of cataracts and the effect of systemic treatment on its progression are described.

UR - http://www.scopus.com/inward/record.url?scp=85032970285&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85032970285&partnerID=8YFLogxK

U2 - 10.1016/j.jaapos.2017.07.211

DO - 10.1016/j.jaapos.2017.07.211

M3 - Article

C2 - 29079218

AN - SCOPUS:85032970285

JO - Journal of AAPOS

JF - Journal of AAPOS

SN - 1091-8531

ER -