Introduction

Aceruloplasminemia (ACP) is a rare autosomal recessive disorder caused by mutations in the CP gene, which encodes ceruloplasmin, a multicopper ferroxidase essential for iron homeostasis. Ceruloplasmin oxidizes Fe2+ to Fe3+, which is required for iron to be loaded onto transferrin and exported from cells. Loss of ceruloplasmin function leads to impaired iron efflux and pathological iron accumulation in the liver, pancreas, retina, and brain. Clinically, ACP is characterized by a triad of diabetes mellitus, retinal involvement, and progressive neurodegeneration [1, 2].

Neuropsychiatric features are common but often underrecognized. Neurological symptoms typically emerge in the fifth decade of life and include cerebellar ataxia, involuntary movements, parkinsonism, as well as psychiatric and behavioral disturbances, and cognitive impairment [2, 3].

Here, we describe an Emirati patient with ACP, in whom diabetes mellitus developed a decade before prominent psychiatric symptoms and subsequent neurological decline. Genetic testing identified a novel homozygous CP variant not reported in ClinVar or gnomAD. This case highlights the diagnostic challenges of ACP and underlines the importance of multidisciplinary collaboration in rare neurogenetic conditions.