RESUMO
Rare autosomal recessive variants in DJ-1, a causative gene for early-onset Parkinson's disease, have been associated with a variety of clinical syndromes in a limited number of patients. Here, we report a case of a novel DJ-1 variant in a 39-year-old man with a 4-year history of parkinsonism, cognitive dysfunction, and lower limb spasticity. He was diagnosed with Parkinson's disease. Genetic testing of the patient revealed compound heterozygous variants in the DJ-1 gene (exon 6 deletion + c.242dup), of which exon 6 deletion was a novel variant. We conclude that variants in DJ-1 should be considered possible causes of early-onset parkinsonism with spasticity and cognitive impairment, as in this case.
Assuntos
Epilepsias Mioclônicas , Estado Epiléptico , Humanos , Adulto , Convulsões/tratamento farmacológico , Estado Epiléptico/induzido quimicamente , Estado Epiléptico/tratamento farmacológico , Carbamazepina/efeitos adversos , Epilepsias Mioclônicas/induzido quimicamente , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsias Mioclônicas/genética , Anticonvulsivantes/efeitos adversos , EletroencefalografiaRESUMO
Continuous intrajejunal infusion of levodopa-carbidopa intestinal gel (LCIG) is an established device-aided therapy for advanced Parkinson's disease (PD). Phytobezoar associated with LCIG is a rare device-related complication and presents with exacerbations of gastrointestinal and PD symptoms. We herein report the case of a phytobezoar that was formed at a knot on the pigtail-shaped J-tube and developed only in association with postprandial abdominal pain, similar to a feeling of a tube being pulled in without an exacerbation of PD symptoms. Such abdominal pain may be a warning sign of phytobezoar in LCIG-treated patients. Despite device-related complications, high-pressure alarms are not always present, and PD symptoms are not always exacerbated.
