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Marinesco-Sjogren syndrome is a rare diagnosis outside of Finland, causing infantile hypotonia, progressive myopathy, cerebellar ataxia, skeletal deformities, rapid onset cataracts and hypergonadtrophic hypogonadism. Motor function progressively deteriorates until unexpectedly stabilizing.Here we present a 32 year old male of non-Finnish heritage presenting for a second opinion on his progressive weakness. He had been a floppy baby with delayed ambulation with subsequent progressive, cerebellar ataxia. He had imaging demonstrating severe cerebellar atrophy and a clinical diagnosis of Cerebral Palsy – Ataxia was made. Through his teenage years he had progressive scoliosis requiring multiple surgeries and complications requiring prolonged rehabilitation. Despite this, he re-achieved mobilisation with a walking stick in his early 20’s. He then developed progressive proximal myopathy effecting his legs more than his arms. Initial workup for myopathy was unrevealing with a CK peak at 550. His NCS was normal and an EMG demonstrated a non-specific proximal myopathic pattern. His diagnostic journey was then interrupted by interstate migration and the SARS-CoV-2 pandemic.His contemporary examination demonstrated profound myopathy, becoming wheelchair bound 3 years prior. He had gynaecomastia and abdominal striae. Testing for endocrinological causes of myopathy revealed borderline hypergonadotrophic hypogonadism and borderline hypercortisolaemia. Genetic testing revealed a homozygous SIL1 gene mutation, giving the diagnosis of Marinesco-Sjogren syndrome.This case highlights a rare, multi-organ condition and the need for past diagnoses to be interrogated thoroughly, along with the ongoing impacts of SARS-CoV-2 onto patients diagnostic journeys.