Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male

We present a case of an eleven-year-old boy presenting with progressive extrapyramidal signs and dementia. His imaging findings demonstrated the classic eye-of-the-tiger sign on T2W magnetic resonance imaging. He was diagnosed with pantothenate kinase-associated neurodegeneration (PKAN). This is a rare autosomal recessive inborn error of coenzyme A metabolism, caused by mutations in PANK2. This is the first reported case of PKAN from the Caribbean. 1. Introduction Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive inborn error of coenzyme A metabolism, caused by mutations in PANK2. Clinical features include progressive extrapyramidal signs, pigmentary retinopathy, or optic atrophy and acanthocytosis [1]. Classic imaging findings which help establish the diagnosis include T2 weighted MRI brain features of bilateral anteromedial hyperintensity surrounded by a region of hypointensity in the medial globus pallidus (eye-of-the-tiger sign). 2. Case Report An eleven-year-old boy presented to the University Hospital of the West Indies, Jamaica, with a history of neurodevelopmental regression with onset at the age of seven when he ceased speaking. By the age of 10 he was unable to sit unsupported or to self-care. He displayed aggressive behavior and dystonic posturing of the limbs, trunk, and the oromandibular region which subsided with sleep. He later developed swallowing difficulty. There was no family history of consanguinity or neurological disease and the perinatal period was normal. Examination revealed an agitated boy who communicated using gestures and obeyed simple commands. His weight and height were <5th centile; the head circumference was normal. There were minor dysmorphic features, generalized muscle wasting, and limb contractures. Fundoscopy revealed bilateral disc pallor and mid-peripheral hyperpigmentation with bony spicules. The gag reflex was weak. Tongue thrusting, forceful jaw opening, and axial and appendicular dystonia were noted. He was noted to use the hand to forcibly close his jaw. There was weakness at the wrists and ankles. Deep tendon reflexes were normal. On laboratory examination, there was mild elevation of hepatic transaminases. Ceruloplasmin, serum, and urinary copper levels were normal. Magnetic resonance imaging (MRI) of the brain demonstrated symmetric changes of homogenous T2 hypointensity in both globus pallidi. In addition, there were discrete foci of T2 hyperintensity at the anteromedial aspect in the bilateral globus pallidi. This appearance is commonly referred to as the “eye of the