[A female case of phospholipase A2 group VI-associated neurodegeneration with childhood onset and long-term follow-up until 49 years of age].

Abstract

The patient was a 39-year-old woman. At the age of 7, she developed cognitive delay and gait disturbance due to flexion deformities of both toes. Her motor function progressively declined over the years, and she became bedridden at the age of 38. At 39, she was referred to our department and was clinically diagnosed with complicated spastic paraplegia. Genetic testing revealed compound heterozygous missense mutations in PLA2G6 (c.662C>T; p.L221P / c.991G>T; p.D331Y), leading to a diagnosis of phospholipase A2 group VI-associated neurodegeneration (PLAN). Despite the progressive nature of her condition, she remained out of hospital care for an extended period. At age 49, she was admitted for evaluation following an episode of impaired consciousness and was subsequently diagnosed with epilepsy. PLAN with early childhood onset is generally associated with a poor prognosis; however, the current case represents a rare example of prolonged survival without ventilatory support or enteral feeding. We conducted a literature review of similar PLAN subtypes and discussed the clinical course of the present case in that context.