P.173 - Changing diagnosis during follow-up

Abstract

We present the case of a young man aged 21 years, followed since 4 years old in a pediatric neurologist outpatient clinic. After an uneventful early motor development, he started with myopathic gait and frequent falls. A muscular biopsy was done and the diagnosis of poliomyositis was made. He started on corticosteroids with clinical improvement and he was referred to a Neuromuscular follow-up at 8 years. His biopsy was repeated at 10 years and central multicores were present in most of the fibers, mostly in type 1 fibers. Evolved with marked muscular atrophy, mainly proximal, walked until 16 years, muscular weakness 2/5 proximal and 5/5 distally and major retractions started to be clear, mainly in elbows and knees. Rigid spine was progressively noticed. Annual cardiac evaluation with echocardiogram and Holter 24 hour monitorization was always normal until 18 years. Progressive nocturnal respiratory insufficiency leads to nocturnal VNI at 14 years. Being this evolution not suggestive of his presumed diagnosis, LMNA gene was analyzed and it was found a heterozygous mutation c.1072G > A, so the diagnostic of an autosomal dominant Emery-Dreifuss muscular dystrophy was made. At 20 years of age, he suffered an embolic ischemic stroke in left MCA, secondary to a presumed cardiac rhythm abnormality. Diagnosis should always be rethought if evolution doesn't follow the expected. Preventing complications and genetic counseling is the key to the follow-up of these patients.