Neurodegeneration With Brain Iron Accumulation in a Case of Adult Aceruloplasminemia

TL;DR

A rare genetic disorder called aceruloplasminemia causes iron buildup in the brain and severe neurological symptoms in an adult patient.

Contribution

This case report highlights the severe and rare neurological manifestations of aceruloplasminemia in adulthood.

Findings

The patient exhibited severe neurological symptoms including gait disturbances, cognitive decline, and brain iron accumulation.

MRI and laboratory tests confirmed aceruloplasminemia with hepatic iron overload and brain hemosiderin deposits.

Early diagnosis and intervention are crucial to prevent irreversible neurological damage in aceruloplasminemia.

Abstract

Aceruloplasminemia (ACP) is a rare genetic disorder that manifests in adulthood due to mutations in the CP (ceruloplasmin) gene, causing iron accumulation and neurodegeneration. Clinically, ACP presents with a range of symptoms, including mild microcytic anemia, diabetes mellitus, liver disease, retinopathy, progressive neurological symptoms such as cerebellar ataxia, involuntary movements, parkinsonism, mood and behavior disorders, and cognitive impairment. We present the case of a 53-year-old female with a history of first-degree consanguinity and a sister with anemia. At six years old, she developed asthenia, leading to multiple hospitalizations for acute hemolytic anemia requiring transfusions and iron therapy. She exhibited later memory disturbances, slowed comprehension, social withdrawal, and school discontinuation. At the age of 51, she developed gait disturbances, unexplained falls, and cognitive decline. One year later, cranial CT revealed a chronic bilateral subdural hematoma. On admission at 53, she had anarthria, right hemiparesis, diffuse rigidity, mouth dystonia, oculomotor paralysis, and intellectual deterioration. MRI showed superficial cortical and leptomeningeal hemosiderin deposits and bilateral signal anomalies in various deep brain regions. EEG revealed paroxysmal anomalies and abdominal MRI indicated hepatic iron overload. Laboratory tests confirmed ACP. This case highlights the rare and severe neurological and systemic manifestations of ACP, emphasizing the importance of early diagnosis and intervention in such degenerative diseases to prevent irreversible neurological complications.

Figures