Boy with Dysarthria and Frequent Falls: A Treatable Disorder

Abstract

9-year-old boy presented with frequent falls, tremors, and slurring of speech over the past 2 months. There was no history of seizures, jaundice, or viral illness in early childhood. He was born to nonconsanguineous parents and there was no other affected family member. On examination, he had an expressionless face, Kayser-Fleischer rings (bilateral cornea; Figure, A), dysarthria, drooling, axial and appendicular tremors, generalized dystonia, and rigidity. A clinical diagnosis of Wilson disease was considered.Investigation showed normal liver function tests, markedly decreased serum ceruloplasmin levels (5.7 mg/dL; normal, 20-35 mg/dL), and increased urinary copper excretion (1200 mg/24 h; normal, <40 mg/24 h). Magnetic resonance imaging of the brain (Figure, B and D) showed signal changes in basal ganglia, mid brain and pons suggestive of

Adolescent with behavioural changes: Diagnostic clues?

“…WD is a rare genetic disorder of copper metabolism affecting the brain, liver, eyes, kidney, and other organs. MRI in WD is quite variable, ranging from normal MRI to bilateral symmetrical signal changes involving basal ganglia, external capsule, thalami, midbrain and pons.1 The uncommon neuroimaging features are confluent signal changes in subcortical white matter and grey matter of frontal, parietal and temporal cortex 1–3 . The ‘lentiform fork’ sign is described as bilateral symmetrical T2/FLAIR‐weighted hyperintense signal changes in basal ganglia surrounded by a brighter hyperintense rim delineating the lentiform nucleus 4 .…”