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• W2891054174 abstract "Objective: We highlight the importance of a neurological evaluation in X-linked ichthyosis, which is associated with ADHD and autism. We hope to bring awareness of the neurological manifestations of XLI. Background: X-linked ichthyosis (XLI) is an X-linked recessive disorder demonstrating cutaneous keratinization due to deficient steroid sulfatase(STS). While patients with mutations involving solely STS or the recurrent ~2Mb deletion can present with attention-deficit hyperactivity disorder (ADHD), larger deletions including neighboring genes such as neuroligin 4 (NLGN4) may present with autism as well. We present a case of XLI with ADHD and autism due to a recurrent ~2Mb deletion which spared the NLGN4 gene. Design/Methods: Genomic DNA extraction was performed using Autopure LS (Qiagen). PCR amplification was performed using a TITANIUM DNA Amplification Kit (Clontech). CMA was performed using both copy number and single-nucleotide polymorphism (SNP) probes on a whole genome array (CytoScan HD platform) (Affymetrix). All data were analyzed using the Feb 2009 NCBI human genome build 37.1 (hg19). Results: A 5-year-old boy presented for a neurological evaluation. He was diagnosed with ADHD and mild autism six months prior. On exam, he had a triangular face, widely spaced eyes, prominent nasal bridge, and conical teeth. There was a lack of reciprocity with hyperactivity and impulsivity. Family history was unremarkable. CMA demonstrated a 1.7 Mb deletion at Xp22.31, which included 6 genes; STS, pseudouridine 5′-phosphatase, microRNA 4767, variable charge, X-linked, patatin-like phospholipase domain containing 4, and microRNA 651, which was consistent with the diagnosis of XLI. He was treated with amphetamine-dextroamphetamine and guanfacine with favorable results. Conclusions: Mutations involving solely STS or the recurrent ~2Mb deletion may present with ADHD, whereas those including NLGN4 can show both ADHD and autism. However, ours presented with autism and ADHD despite having only the recurrent deletion. Such neurological manifestations of XLI warrant attention as practical targets of clinical management. Disclosure: Dr. Baek has nothing to disclose. Dr. Aypar has nothing to disclose." @default.
• W2891054174 created "2018-09-27" @default.
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• W2891054174 date "2018-04-10" @default.
• W2891054174 modified "2023-09-26" @default.
• W2891054174 title "Neurological manifestations of X-linked ichthyosis: case report and review of the literature (P3.337)" @default.
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