Colafrancesco Giada, Di Marzio Giulia Maria, Abbracciavento Giuseppe, Stoppioni Vera, Leuzzi Vincenzo, Ferrara Mauro
Child Neurology and Psychiatry, Policlinico Umberto I Roma Sapienza, Rome, Italy,
Eur J Pediatr. 2015 Sep;174(9):1263-6. doi: 10.1007/s00431-015-2552-2. Epub 2015 May 5.
Homocystinuria due to cystathionine-β-synthase deficiency (CBS deficiency) usually presents with ectopia lentis, myopia, intellectual disability, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Whereas neurodevelopment impairments have been often described in untreated homocystinuria adult patients, acute psychosis has rarely been reported as a presenting symptom of the disease. Here, we describe a 17-year-old girl affected by CBS deficiency presenting acute onset of visual hallucinations, behavioral perseverance, psychomotor hyperactivity, and affective inappropriateness. Ectopia lentis, diagnosed several years before, didn't have been considered as possible sign of a metabolic disorder. Psychotic symptoms were unresponsive to the conventional antipsychotic drugs and relieved after pyridoxine and folic acid treatment.
A diagnosis of homocystinuria due to CBS deficiency should be considered in patients presenting, as target signs, ectopia lentis with or without learning difficulties, and should also be taken into account as a potentially treatable cause of acute psychosis in childhood and adolescence.
• Homocystinuria frequently present with ectopia lentis, myopia, cognitive impairment, Marfan-like phenotype, osteoporosis, cerebrovascular, or cardiac thrombosis. • Acute psychosis has rarely been reported as a presenting symptom of the disease.
• The complete psychotic symptoms' remission with pharmacological doses of pyridoxine and folic acid, without antipsychotic drugs.
由于胱硫醚-β-合酶缺乏（CBS缺乏）导致的同型胱氨酸尿症通常表现为晶状体异位、近视、智力残疾、类似马凡综合征的骨骼异常以及血栓栓塞事件。虽然在未经治疗的成年同型胱氨酸尿症患者中经常描述有神经发育障碍，但急性精神病很少被报道为该疾病的首发症状。在此，我们描述一名17岁受CBS缺乏影响的女孩，出现急性发作的视幻觉、行为固执、精神运动性多动和情感不适当。几年前诊断出的晶状体异位，之前未被视为可能的代谢紊乱迹象。精神病症状对传统抗精神病药物无反应，在使用吡哆醇和叶酸治疗后缓解。
对于出现晶状体异位且有或无学习困难作为目标体征的患者，应考虑诊断为由于CBS缺乏导致的同型胱氨酸尿症，并且还应将其视为儿童和青少年急性精神病的潜在可治疗病因。
• 同型胱氨酸尿症常表现为晶状体异位、近视、认知障碍、马凡样表型、骨质疏松、脑血管或心脏血栓形成。• 急性精神病很少被报道为该疾病的首发症状。
• 使用药理剂量的吡哆醇和叶酸可使精神病症状完全缓解，无需使用抗精神病药物。
