Title: Huntington’s Disease Like Syndrome: A Rare Genetic Dilemma For Clinicians
Authors: Dr Prasun Sagar, Dr Saurabh Goel, Dr Devdutt Rai, Dr Sandeep Rai
DOI: https://dx.doi.org/10.18535/jmscr/v7i10.42
Abstract
Huntington’s disease like syndrome are heredodegenerative disorder conditions which mimic the presentation of Huntington's disease. It is characterised by combination of movement disorders, cognitive decline, behavioural abnormalities and progressive disease course proves negative to genetic testing for hungtington’s disease. Huntingtons disease is the most common hereditary neurodegenerative disorder with onset before mid-life and a distinct phenotype chararacterised by movement disorders like chorea, dystonia, in coordination, cognitive deteroiration, and behavioural changes. Here we present a 38year old male who presented to casuality with chief complaints of involuntary movements of both upper and lower limbs since 5 years, drooling of saliva and difficulty in eating sine 2 years. Patient was already on antipsychotic medication (details not available) along with tetrabenazine at dose 25 mg (p/o) tds. Patient had an episode of GTCS on 3rd day of admission associated with uprolling of eyeballs and frothing from mouth. On MRI Brain Caudate head atrophy on either side associated with enlargement of frontal horns of lateral ventricle-box like configuration (possibly represents Hungtingtons disease). Patient started tetrabenazine, haloperidol and added antiepileptic on 3rd day. The patient improved over a period of 7 days and choreiform movements decreased. Patient was discharged on Tetrabenazine, Antiepileptics and Haloperidol