Fahr`s Syndrome Accompanied by Psychotic Symptoms and Memory Impairment

Öz

This case report highlights the importance of considering Fahr’s syndrome in the differential diagnosis of neuropsychiatric disorders and underscores the necessity of a comprehensive metabolic evaluation in affected patients. Fahr’s syndrome, also known as Primary Familial Brain Calcification (PFBC), is a rare disorder characterized by bilateral, symmetric intracranial calcifications, neurodegenerative changes, and disturbances in calcium-phosphorus metabolism. A patient presenting with psychotic symptoms and cognitive impairment is described, with an unusual finding of elevated urinary copper levels despite normal blood calcium levels. The case demonstrated typical features of Fahr’s syndrome, including bilateral intracranial calcifications and cognitive dysfunction, along with potential disturbances in copper metabolism. This finding highlights the complexity of metabolic abnormalities associated with the condition and the importance of a thorough diagnostic approach. The report emphasizes the need to consider Fahr’s syndrome in patients with neuropsychiatric symptoms, particularly those with cognitive impairment and psychotic features. The presence of elevated urinary copper levels in the absence of blood calcium abnormalities suggests the necessity of a comprehensive metabolic assessment. Early recognition and appropriate diagnostic work-up are crucial for guiding treatment and management, as Fahr’s syndrome is often overlooked in the presence of more common neuropsychiatric disorders.

Anahtar Kelimeler

• Fahr syndrome
• primary familial brain calcification
• neurodegeneration
• calcium; psychosis; cognitive impairment

Kaynakça

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