Psychiatric symptoms in a woman with chorea-acanthocytosis.

UNLABELLED: Chorea-acanthocytosis is an uncommon neurodegenerative disorder, usually with a low rate of progression. It is characterized by Huntington disease-like involuntary movements, cognitive decline, behavioral changes, seizures and polyneuropathy. Chorea-acanthocytosis belongs to the group of neuroacanthocytosis syndromes, a group of genetically defined diseases associated with progressive degeneration of the basal ganglia and peripheral red blood cell acanthocytes. The onset of the disease is variable in its manifestations and psychiatric symptoms may dominate the clinical picture. CASE REPORT: A 48-year-old woman with a history of seizures since age 35 developed behavioral and affective changes that led to her referral to our mental health unit. She had an unsteady gait, motor clumsiness, emotional instability and impulsivity. Personality changes related with medical illness were diagnosed despite a normal neurological survey. Subsequent development of choreic involuntary movements, evidence of striatal atrophy on MRI and detection of acanthocytes in a peripheral blood smear allowed diagnosis. The role of the basal ganglia in psychiatric manifestations and the pathophysiology of chorea-acanthocytosis are discussed.

Adult onset Hallervorden-Spatz disease with psychotic symptoms.

Hallervorden-Spatz disease is a rare neurological disorder characterized by pyramidal and extrapyramidal manifestations, dysarthria and dementia. Its onset is usually in childhood and most patients have a fatal outcome in few years. A high percentage of cases are hereditary with a recessive autosomal pattern. In the majority of the patients reported, a mutation of the gene that encodes the pantothenate kinase (PANK2) located in the 20p13-p12.3 chromosome that causes iron storage in the basal ganglia of the brain has been found. Its diagnosis is based on clinical symptoms as well as specific MRI imaging findings. The most common psychiatric features are cognitive impairment as well as depressive symptoms. There are few documented cases with psychotic disorders. We present the case of a patient with late onset Hallervorden-Spatz disease and psychotic symptoms that preceded the development of neurological manifestations. The pathophysiology and the treatment of psychotic symptomatology are presented and discussed. Key words: Psicosis, Hallervorden-Spatz, late onset, Basal ganglia.