Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis
| Autor: | Diba Behzad-Noori, Kathryn M. Brennan, Jordan Burgess, Cheryl Longman |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Pediatrics Delayed Diagnosis Ataxia Neurology DNA Mutational Analysis Mutation Missense Administration Oral Case Report Chenodeoxycholic Acid Clinical neurophysiology Cerebrotendinous Xanthomatosis Coeliac disease Consanguinity Diet Gluten-Free 03 medical and health sciences 0302 clinical medicine Humans Medicine Cognitive Dysfunction Family history Medical History Taking business.industry Peripheral Nervous System Diseases Xanthomatosis Cerebrotendinous General Medicine medicine.disease Pedigree Celiac Disease Treatment Outcome 030104 developmental biology Peripheral neuropathy Cholestanetriol 26-Monooxygenase medicine.symptom business 030217 neurology & neurosurgery Consanguineous Marriage |
| Zdroj: | BMJ Case Rep |
| ISSN: | 1757-790X |
| DOI: | 10.1136/bcr-2020-237978 |
| Popis: | We present the case of a 29-year-old south Asian man born of consanguineous marriage, presenting with ataxia, peripheral neuropathy and cognitive impairment. An initial diagnosis of coeliac disease was thought to explain the pertinent clinical features; however, further investigation led to an additional diagnosis of the rare yet treatable autosomal recessive condition, cerebrotendinous xanthomatosis. With both conditions employing highly diverse and overlapping clinical phenotypes, this contributed to a delay in diagnosis. Our report highlights the importance of paying close attention to both the clinical phenotype and family history. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|