Related Experiment Video
Updated: Mar 13, 2026
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis
Shilpa D Kulkarni1, Meenal Garg, Rafat Sayed
1Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India. Correspondence to: Dr Shilpa Kulkarni, EEG room, 2nd floor, Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Parel, Mumbai 400 012, Maharashtra, India. skulkarni.shilpa@gmail.com.
Background:
Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy.
Case Characteristics:
10-year-old boy presented with progressive ataxia, neuropathy and cataracts. Over 6 years, he developed dementia, kyphoscoliosis with worsening ataxia, and neuropathy.
Outcome:
Sterol analysis and CYP27A1 sequencing confirmed the diagnosis.
Message:
The condition should be considered in childhood onset cerebellar ataxia with cataracts, even in the absence of skin signs.
More Related Videos
06:48Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
