Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice
IntroductionThis case report details the presentation of a patient who initially sought consultation at a psychiatric outpatient clinic with symptoms suggestive of Attention-Deficit/Hyperactivity Disorder (ADHD); however, further evaluation revealed a diagnosis of Cerebrotendinous Xanthomatosis (CTX...
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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Psychiatry |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fpsyt.2025.1528204/full |
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| author | Jongtae Kim Yun Jeong Hong Si Baek Lee Seong Hoon Kim Myung Ah Lee Eunbuel Ko Jeong Wook Park |
| author_facet | Jongtae Kim Yun Jeong Hong Si Baek Lee Seong Hoon Kim Myung Ah Lee Eunbuel Ko Jeong Wook Park |
| author_sort | Jongtae Kim |
| collection | DOAJ |
| description | IntroductionThis case report details the presentation of a patient who initially sought consultation at a psychiatric outpatient clinic with symptoms suggestive of Attention-Deficit/Hyperactivity Disorder (ADHD); however, further evaluation revealed a diagnosis of Cerebrotendinous Xanthomatosis (CTX). CTX, a genetic disorder impacting lipid metabolism, is often overlooked in differential diagnoses due to its rarity. This case underscores the importance of considering alternative diagnoses in adults exhibiting ADHD-like symptoms without a childhood history of the disorder, adding to the literature on diagnostic complexities in psychiatric practice.Case presentationA 33-year-old man visited a psychiatric outpatient clinic with symptoms such as increasing distractibility and inattention, requesting an evaluation for adult ADHD. However, the absence of an ADHD history in childhood, coupled with progressive neurological symptoms and tendon xanthomas, led to further investigation. Comprehensive neurological assessments, including neuroimaging and genetic testing, ultimately diagnosed him with CTX. Treatment with chenodeoxycholic acid (CDCA) resulted in stabilization of cognitive function, although improvement in gait disturbances and tremors remained minimal.ConclusionThis case demonstrates that CTX can masquerade as adult ADHD, emphasizing the necessity for thorough assessments in atypical ADHD presentations. Psychiatrists should consider rare metabolic disorders like CTX in similar cases, which may enable timely intervention and improve patient outcomes. |
| format | Article |
| id | doaj-art-1a8812f50167497faa26345fcd1fb47f |
| institution | Kabale University |
| issn | 1664-0640 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Psychiatry |
| spelling | doaj-art-1a8812f50167497faa26345fcd1fb47f2025-02-04T06:31:43ZengFrontiers Media S.A.Frontiers in Psychiatry1664-06402025-02-011610.3389/fpsyt.2025.15282041528204Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practiceJongtae Kim0Yun Jeong Hong1Si Baek Lee2Seong Hoon Kim3Myung Ah Lee4Eunbuel Ko5Jeong Wook Park6Department of Psychiatry, Uijeongbu St. Mary’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaDepartment of Neurology, Uijeongbu St. Mary’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaDepartment of Neurology, Uijeongbu St. Mary’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaDepartment of Neurology, Uijeongbu St. Mary’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaDepartment of Neurology, Uijeongbu St. Mary’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaDepartment of Neurology, Uijeongbu St. Mary’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaDepartment of Neurology, Uijeongbu St. Mary’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaIntroductionThis case report details the presentation of a patient who initially sought consultation at a psychiatric outpatient clinic with symptoms suggestive of Attention-Deficit/Hyperactivity Disorder (ADHD); however, further evaluation revealed a diagnosis of Cerebrotendinous Xanthomatosis (CTX). CTX, a genetic disorder impacting lipid metabolism, is often overlooked in differential diagnoses due to its rarity. This case underscores the importance of considering alternative diagnoses in adults exhibiting ADHD-like symptoms without a childhood history of the disorder, adding to the literature on diagnostic complexities in psychiatric practice.Case presentationA 33-year-old man visited a psychiatric outpatient clinic with symptoms such as increasing distractibility and inattention, requesting an evaluation for adult ADHD. However, the absence of an ADHD history in childhood, coupled with progressive neurological symptoms and tendon xanthomas, led to further investigation. Comprehensive neurological assessments, including neuroimaging and genetic testing, ultimately diagnosed him with CTX. Treatment with chenodeoxycholic acid (CDCA) resulted in stabilization of cognitive function, although improvement in gait disturbances and tremors remained minimal.ConclusionThis case demonstrates that CTX can masquerade as adult ADHD, emphasizing the necessity for thorough assessments in atypical ADHD presentations. Psychiatrists should consider rare metabolic disorders like CTX in similar cases, which may enable timely intervention and improve patient outcomes.https://www.frontiersin.org/articles/10.3389/fpsyt.2025.1528204/fullCerebrotendinous XanthomatosisAttention-Deficit/Hyperactivity Disordercase reportdifferential diagnosisneuropsychiatry |
| spellingShingle | Jongtae Kim Yun Jeong Hong Si Baek Lee Seong Hoon Kim Myung Ah Lee Eunbuel Ko Jeong Wook Park Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice Frontiers in Psychiatry Cerebrotendinous Xanthomatosis Attention-Deficit/Hyperactivity Disorder case report differential diagnosis neuropsychiatry |
| title | Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice |
| title_full | Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice |
| title_fullStr | Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice |
| title_full_unstemmed | Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice |
| title_short | Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice |
| title_sort | case report cerebrotendinous xanthomatosis masquerading as adult adhd in psychiatric practice |
| topic | Cerebrotendinous Xanthomatosis Attention-Deficit/Hyperactivity Disorder case report differential diagnosis neuropsychiatry |
| url | https://www.frontiersin.org/articles/10.3389/fpsyt.2025.1528204/full |
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