Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years
BackgroundHuppke–Brendel (HB) syndrome is an autosomal recessive disease caused by variants in the SLC33A1 gene. Since 2012, less than ten patients have been reported, none survived year six. With neurologic involvement and ceruloplasmin deficiency, it may mimic Wilson disease (WD).Objectives and me...
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| Format: | Article |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.957794/full |
| _version_ | 1811338139455717376 |
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| author | Frederik Teicher Kirk Ditte Emilie Munk Jakob Ek Lisbeth Birk Møller Mette Bendixen Thorup Erik Hvid Danielsen Hendrik Vilstrup Peter Ott Thomas Damgaard Sandahl |
| author_facet | Frederik Teicher Kirk Ditte Emilie Munk Jakob Ek Lisbeth Birk Møller Mette Bendixen Thorup Erik Hvid Danielsen Hendrik Vilstrup Peter Ott Thomas Damgaard Sandahl |
| author_sort | Frederik Teicher Kirk |
| collection | DOAJ |
| description | BackgroundHuppke–Brendel (HB) syndrome is an autosomal recessive disease caused by variants in the SLC33A1 gene. Since 2012, less than ten patients have been reported, none survived year six. With neurologic involvement and ceruloplasmin deficiency, it may mimic Wilson disease (WD).Objectives and methodsWe report the first adult patient with HB.ResultsThe patient suffered from moderate intellectual disability, partial hearing loss, spastic ataxia, hypotonia, and unilateral tremor of parkinsonian type. At age 29, she was diagnosed with WD based on neurology, elevated 24H urinary copper, low ceruloplasmin, and pathological 65Cu test. Approximately 25 years later, genetic testing did not support WD or aceruloplasminemia. Full genome sequencing revealed two likely pathogenic variants in SLC33A1 which combined with re-evaluation of neurologic symptoms and MRI suggested the diagnosis of HB.ConclusionAdult patients with HB exist and may be confused with WD. Low ceruloplasmin and the absence of ATP7B variants should raise suspicion. |
| first_indexed | 2024-04-13T18:06:39Z |
| format | Article |
| id | doaj.art-8485e0fe81d84a37895977f761df3490 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-04-13T18:06:39Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-8485e0fe81d84a37895977f761df34902022-12-22T02:36:04ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-09-011310.3389/fneur.2022.957794957794Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 yearsFrederik Teicher Kirk0Ditte Emilie Munk1Jakob Ek2Lisbeth Birk Møller3Mette Bendixen Thorup4Erik Hvid Danielsen5Hendrik Vilstrup6Peter Ott7Thomas Damgaard Sandahl8Department of Hepatology and Gastroenterology, Aarhus University Hospital, ERN Rare Liver, Aarhus, DenmarkDepartment of Hepatology and Gastroenterology, Aarhus University Hospital, ERN Rare Liver, Aarhus, DenmarkDepartment of Genetics, Copenhagen University, Rigshospitalet, København, DenmarkDepartment of Genetics, Copenhagen University, Rigshospitalet, København, DenmarkDepartment of Radiology and MR-center, Aarhus University Hospital, Aarhus, DenmarkDepartment of Neurology, Aarhus University Hospital, Aarhus, DenmarkDepartment of Hepatology and Gastroenterology, Aarhus University Hospital, ERN Rare Liver, Aarhus, DenmarkDepartment of Hepatology and Gastroenterology, Aarhus University Hospital, ERN Rare Liver, Aarhus, DenmarkDepartment of Hepatology and Gastroenterology, Aarhus University Hospital, ERN Rare Liver, Aarhus, DenmarkBackgroundHuppke–Brendel (HB) syndrome is an autosomal recessive disease caused by variants in the SLC33A1 gene. Since 2012, less than ten patients have been reported, none survived year six. With neurologic involvement and ceruloplasmin deficiency, it may mimic Wilson disease (WD).Objectives and methodsWe report the first adult patient with HB.ResultsThe patient suffered from moderate intellectual disability, partial hearing loss, spastic ataxia, hypotonia, and unilateral tremor of parkinsonian type. At age 29, she was diagnosed with WD based on neurology, elevated 24H urinary copper, low ceruloplasmin, and pathological 65Cu test. Approximately 25 years later, genetic testing did not support WD or aceruloplasminemia. Full genome sequencing revealed two likely pathogenic variants in SLC33A1 which combined with re-evaluation of neurologic symptoms and MRI suggested the diagnosis of HB.ConclusionAdult patients with HB exist and may be confused with WD. Low ceruloplasmin and the absence of ATP7B variants should raise suspicion.https://www.frontiersin.org/articles/10.3389/fneur.2022.957794/fullWilson diseasecopperneurologySLC33A1rare diseaseHuppke-Brendel syndrome |
| spellingShingle | Frederik Teicher Kirk Ditte Emilie Munk Jakob Ek Lisbeth Birk Møller Mette Bendixen Thorup Erik Hvid Danielsen Hendrik Vilstrup Peter Ott Thomas Damgaard Sandahl Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years Frontiers in Neurology Wilson disease copper neurology SLC33A1 rare disease Huppke-Brendel syndrome |
| title | Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years |
| title_full | Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years |
| title_fullStr | Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years |
| title_full_unstemmed | Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years |
| title_short | Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years |
| title_sort | case report huppke brendel syndrome in an adult mistaken for and treated as wilson disease for 25 years |
| topic | Wilson disease copper neurology SLC33A1 rare disease Huppke-Brendel syndrome |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.957794/full |
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