del Valle-López Pilar, Pérez-García Rosa, Sanguino-Andrés Rosa, González-Pablos Emilio
Psychiatrist, Complejo Hospitalario de Palencia, Spain.
Actas Esp Psiquiatr. 2011 Jul-Aug;39(4):260-2. Epub 2011 Jul 1.
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.
哈勒沃登-施帕茨病是一种罕见的神经疾病,其特征为锥体束和锥体外系表现、构音障碍和痴呆。该病通常在儿童期发病,大多数患者在数年内会有致命结局。高比例的病例为常染色体隐性遗传。在大多数已报道的患者中,发现位于20p13-p12.3染色体上的编码泛酸激酶(PANK2)的基因突变,该突变导致大脑基底节铁蓄积。其诊断基于临床症状以及特定的MRI影像学表现。最常见的精神症状是认知障碍以及抑郁症状。记录在案的伴有精神障碍的病例很少。我们报告一例迟发性哈勒沃登-施帕茨病患者,其在神经症状出现之前有精神症状。本文介绍并讨论了精神症状的病理生理学及治疗。关键词:精神病、哈勒沃登-施帕茨病、迟发性、基底节