P 1030. MRI Pattern in Neurodegeneration with Brain Iron Accumulation and Fucosidosis Appear Similar
30. Oktober 2018 (online)
Introduction: PANK2 disease belongs to a group of neurodegenerative diseases with brain iron accumulation (NBIA) comprising several biochemically and genetically heterogeneous diseases. Clinical signs occur from early childhood to adulthood with gait disturbances, dysarthria, and rapid progressive dystonia. In ∼50% of all NBIA cases, a mutation in the panthotenatekinase gene is detected and presence of the eye of the tiger sign should prompt genetic testing for PANK2 mutations. A similar MRI pattern is in fucosidosis seen, but it is not the exact eye of the tiger sign. Fucosidosis belongs to the lysosomal storage diseases. For both diseases, no causal therapeutic options are available for the present.
Case Report: Patient 1: The patient is the first child of a nonconsanguineous Austrian couple. Pregnancy and delivery were uneventful. Development during the first year was reported normal. Independent walk was observed at 18 months. At 5.5 years, the girl was admitted to the hospital because of dysarthria, chewing problems, and gait disturbances. The cranial MRI showed basal ganglia lesions (“eye of the tiger sign”). Mutation analysis of the PANK2 gene revealed compound heterozygosity.
Patient 2: The patient is the first child of a nonconsanguineous Austrian couple. Pregnancy and delivery were uneventful. Development during the first year was reported as normal. Independent walk was observed at 17 months; no words in active speech. At 26 months, the patient was admitted to our hospital. Mild autistic features, prominent speech delay, and mild coarse facial features were noticed but no angiokeratoma. Audiometry revealed sensorineural hearing impairment and seromucotympanon on both ears. Hearing impairment was well known in relatives of this patient. The cMRI showed basal ganglia lesions similar to the eye of the tiger sign. The genetic testing revealed a compound heterozygous mutation in the FUCA1 gene. The biochemical test affirmed the diagnosis. One year after diagnosis, the patient got the first angiokeratoma on palm and sole.
Conclusion: MRI features should always be described exactly and discussed within the clinical context of symptoms of the patient, to prevent false interpretation and a longer way to the right diagnosis.