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Título

A TEENAGER WITH CHOREA AND TOOTH AGENESIS: A CASE REPORT

RESUMO

A teenager with chorea and tooth agenesis: A case report

CASE PRESENTATION: A 16 year old female patient began 7 years earlier with involuntary movements in superior limbs and trunk, being medicated with Clonazepam and Topiramate, but with no improvement of the symptoms. Previously use of Levothyroxine and SSRI, there was no history of delivery complications or abnormal neurodevelopment. She had no family history of movement disorders or other neurologic diseases. The neurologic exam showed gait ataxia, myoclonus on upper limbs, generalized chorea and partial tooth agenesis. At this point, a trial with Levodopa three times daily was initiated and the symptoms ameliorated. She underwent several complementary investigations, such as brain MRI, EEG and blood laboratory tests, which were all unremarkable. At last, whole exome sequencing was performed and the results pointed microdeletion on chromosome 14 (14q.13.3q.21.1), with 5,4Mb, heterozygosis and variation on copy numbers, therefore, involving the following genes: NKX2-1 and PAX-9. Hence, this patient was diagnosed with hereditary benign chorea within NKX2-1 spectrum disorder and, notably, the tooth agenesis was due the mutation on PAX-9 gene, both located in proximity. DISCUSSION: The mutation on NKX2-1 gene is related to systemic manifestations, such as benign hereditary chorea, congenital hypothyroidism, and neonatal respiratory distress (also known as brain-lung-thyroid syndrome). Additionally, the PAX-9 gene mutation, associated to hypodontia, is not expected to be involved, though, our patient presents molar tooth agenesis and we concluded that this phenotypic presentation is due the proximity between the NKX2-1 and PAX-9 genes on chromosome 14. FINAL COMMENTS: PAX-9 mutation was not expected with NKX-2’s, as both doesn’t have any phenotypic or genetic association. But, in this particular case, genetic sequencing showed that one mutation may lead to subsequently alterations in other genes located nearby. Furthermore, it is of great importance to remind that benign hereditary chorea is the only form of chorea that improves with Levodopa treatment, contrarily with other choreas, which worsen with this medication.