Kufor–Rakeb syndrome (KRS): Clinico-radiological phenotype of a probable sporadic case with “eye of tiger” sign

Abstract

Abstract Kufor–Rakeb syndrome (KRS) is a rare autosomal recessive form of pallidopyramidal degeneration, supranuclear upgaze paresis and cognitive decline, first described in Kufor–Rakeb. Disease pathogenesis of KRS is due to loss of function of ATP13A2 (PARK9) gene which was identified by Ramirez et al. A 24 years old adolescent male presented with one-year history of abnormal behavior followed by apathy since 3 months. Subsequently, he developed one episode of abrupt abnormal twisting posture of left upper limb and lower limb lasting for an hour which preceded slowness in his daily activities and anarthria. He also developed tremulousness in all four extremities and cognitive decline in the form of difficulty in simple calculation and naming. On neurological examination he had cognitive decline, supranuclear upgaze paresis, pyramidal features in the form of spasticity, hyperreflexia with extensor plantar response and extrapyramidal features in the form of tremor and myoclonus suggestive of facial-faucial-finger mini myoclonus (FFF mini myoclonus) without sensory involvement. MRI brain revealed bilateral cerebral, brainstem and cerebellar generalized atrophy and DWI showed hypo intensity in putamen and globus pallidus surrounding a hyperintense lesion like “eye of tiger” sign. He showed minimal improvement initially on trihexyphenidyl and levodopa plus carbidopa combination but response was not consistent on follow up and he became bed bound within one and half years after disease onset. In our patient dystonia was an early feature and interestingly MRI brain showed “eye of tiger” sign which has not been reported earlier in the literature.