Abstract
Objectives To present an ‘ultrarare’ case of neurodegeneration with brain iron accumulation (NBIA) that was previously diagnosed as spastic diplegic cerebral palsy.
Background NBIA is a very rare condition and affects both children and adults. It is clinically and genetically heterogenous and is characterized by pathological brain iron accumulation in the basal ganglia. Neurological manifestation include progressive extrapyramidal syndrome, pyramidal signs, cognitive dysfunction or ocular abnormalities. Neuroimaging shows T2 hypointense lesions bilaterally in the globus pallidi and substantia nigra on T2 weighted images
Case This is a case of a 24year old male who was diagnosed by paediatricians as ‘cerebral palsy spastic diplegia’ with intellectual disability. He was born at term and met all developmental milestones till age 3. He then had difficulties with gait, incoordination and delayed speech. He was diagnosed as a child as spastic diplegic cerebral palsy. His mobility declined further and he was assessed in adult neurology clinic for seizures. MRI brain, previously normal as a child, showed changes consistent with neurodegeneration with brain iron accumulation in the substantia nigra and atrophy of corpus collosum and cerebellum. Genetic testing confirmed heterozygous pathogenic mutations for PLA2G6 gene, securing diagnosis of phospholipase A2-associated neurodegeneration (PLAN).
Conclusion This case offers a reminder to re-evaluate diagnoses when clinical course of disorder does not fit the known pattern. Distinction between static and progressive clinical course is crucial. Regression in development should alert clinicians to metabolic and neurodegenerative disorders. NBIA, although ‘ultrarare’, should be considered as a differential if phenotypically appropriate.
