Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report.
Introduction: Identifying the underlying etiology of nonfamilial adult-onset progressive cerebellar ataxia is often challenging because neurologists must consider almost all nongenetic and genetic causes of ataxia. Case Presentation: A 39-year-old woman was hospitalized for progressive ataxia with p...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2024-02-01
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| Series: | Case Reports in Neurology |
| Online Access: | https://beta.karger.com/Article/FullText/536679 |
| _version_ | 1797291560451178496 |
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| author | Ioannis Karafyllis Jean-Marc Nuoffer Joan-Philipp Michelis Lara Chilver-Stainer |
| author_facet | Ioannis Karafyllis Jean-Marc Nuoffer Joan-Philipp Michelis Lara Chilver-Stainer |
| author_sort | Ioannis Karafyllis |
| collection | DOAJ |
| description | Introduction: Identifying the underlying etiology of nonfamilial adult-onset progressive cerebellar ataxia is often challenging because neurologists must consider almost all nongenetic and genetic causes of ataxia. Case Presentation: A 39-year-old woman was hospitalized for progressive ataxia with pyramidal and cognitive dysfunction after a right arm shaking and coordination problem deteriorated progressively over 1.5 years. The patient's medical history included amenorrhea, cataracts, developmental delays, consanguinity of the parents, motor coordination issues, and diarrhea and vomiting in infancy. An important finding that enabled us to solve the diagnostic conundrum was the elevated CDT levels in the lack of alcohol-related symptoms, which also occur in untreated carbohydrate metabolism disorders, sometimes with ataxia as a leading symptom. The decreased erythrocyte galactose-1-phosphate uridyltransferase (GALT) enzyme activity and the elevated erythrocyte galactose-1-phosphate (Gal-1P) concentration led to the final diagnosis of galactosemia, a rare metabolic disorder. The patient's condition stayed stable with strict adherence to lactose-free and galactose-restricted diets, regular physiotherapy, and speech therapy, despite attempts to control the crippling tremor. Conclusion: This case highlights the importance of considering rare diseases based on unexplained clinical and laboratory findings. Newborn screening does not change the long-term complications of early-treated classical galactosemia. A small percentage of these patients develop ataxia tremor syndrome. |
| first_indexed | 2024-03-07T19:38:33Z |
| format | Article |
| id | doaj.art-510ee4c08f2541cfb682d79ff643a968 |
| institution | Directory Open Access Journal |
| issn | 1662-680X |
| language | English |
| last_indexed | 2024-03-07T19:38:33Z |
| publishDate | 2024-02-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Neurology |
| spelling | doaj.art-510ee4c08f2541cfb682d79ff643a9682024-02-29T07:06:19ZengKarger PublishersCase Reports in Neurology1662-680X2024-02-011110.1159/000536679536679Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report.Ioannis KarafyllisJean-Marc NuofferJoan-Philipp MichelisLara Chilver-StainerIntroduction: Identifying the underlying etiology of nonfamilial adult-onset progressive cerebellar ataxia is often challenging because neurologists must consider almost all nongenetic and genetic causes of ataxia. Case Presentation: A 39-year-old woman was hospitalized for progressive ataxia with pyramidal and cognitive dysfunction after a right arm shaking and coordination problem deteriorated progressively over 1.5 years. The patient's medical history included amenorrhea, cataracts, developmental delays, consanguinity of the parents, motor coordination issues, and diarrhea and vomiting in infancy. An important finding that enabled us to solve the diagnostic conundrum was the elevated CDT levels in the lack of alcohol-related symptoms, which also occur in untreated carbohydrate metabolism disorders, sometimes with ataxia as a leading symptom. The decreased erythrocyte galactose-1-phosphate uridyltransferase (GALT) enzyme activity and the elevated erythrocyte galactose-1-phosphate (Gal-1P) concentration led to the final diagnosis of galactosemia, a rare metabolic disorder. The patient's condition stayed stable with strict adherence to lactose-free and galactose-restricted diets, regular physiotherapy, and speech therapy, despite attempts to control the crippling tremor. Conclusion: This case highlights the importance of considering rare diseases based on unexplained clinical and laboratory findings. Newborn screening does not change the long-term complications of early-treated classical galactosemia. A small percentage of these patients develop ataxia tremor syndrome.https://beta.karger.com/Article/FullText/536679 |
| spellingShingle | Ioannis Karafyllis Jean-Marc Nuoffer Joan-Philipp Michelis Lara Chilver-Stainer Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report. Case Reports in Neurology |
| title | Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report. |
| title_full | Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report. |
| title_fullStr | Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report. |
| title_full_unstemmed | Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report. |
| title_short | Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report. |
| title_sort | untreated classic galactosemia a rare cause of adult onset progressive cerebellar ataxia a case report |
| url | https://beta.karger.com/Article/FullText/536679 |
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