Iki Soichiro, Shimizu Hitomi, Morimoto Yoshiro, Yamamoto Naoki, Ohashi Aiko, Tayama Tatsuyuki, Imamura Akira, Ozawa Hiroki
Department of Neuropsychiatry, Unit of Translational Medicine Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan.
Child and Adolescent Psychiatry Community Partnership Unit Nagasaki University Hospital Nagasaki Japan.
PCN Rep. 2022 Apr 27;1(2):e10. doi: 10.1002/pcn5.10. eCollection 2022 Jun.
Patients with Fanconi anemia (FA) are at high risk for the development of malignancies, and are often treated with radiation therapy. Radiation therapy during childhood can cause intracranial calcification after a latent period, which has been associated with psychiatric symptoms. Despite the high sensitivity of patients with FA to radiation, intracranial calcification has rarely been reported in these patients.
A 17-year-old girl presented with psychiatric symptoms and cognitive impairment. She had been diagnosed with FA at 3 years old, and had received a bone marrow transplant at 5 years old with a preparative regimen that included total body irradiation. Results of IQ tests revealed a characteristic pattern of decline between the ages of 15 and 17 years. Computed tomography indicated multiple intracranial calcifications in regions associated with psychotic symptoms, including the frontal lobe and thalamus. The patient's psychiatric symptoms improved with the administration of blonanserin.
The patient did not have regular intracranial imaging, making it difficult to confirm a direct relationship between intracranial calcification, psychiatric symptoms, and cognitive impairment. It is unclear whether the intracranial calcification in this case can be explained entirely by irradiation.
This case suggests a link between FA, intracranial calcification, and psychosis, in which intracranial calcification may have caused psychiatric symptoms. At present, evidence regarding the characteristics of psychiatric symptoms of intracranial calcification and its treatment is lacking. The current case will be helpful for elucidating the pathogenesis of this disorder and developing appropriate treatment protocols.
范可尼贫血（FA）患者发生恶性肿瘤的风险很高，且常接受放射治疗。儿童期放射治疗在一段潜伏期后可导致颅内钙化，这与精神症状有关。尽管FA患者对辐射高度敏感，但这些患者中很少有颅内钙化的报道。
一名17岁女孩出现精神症状和认知障碍。她3岁时被诊断为FA，5岁时接受了骨髓移植，预处理方案包括全身照射。智商测试结果显示在15至17岁之间有特征性的下降模式。计算机断层扫描显示在与精神症状相关的区域，包括额叶和丘脑，有多处颅内钙化。给予布南色林后患者的精神症状有所改善。
患者未进行定期颅内成像，因此难以证实颅内钙化、精神症状和认知障碍之间的直接关系。尚不清楚本例中的颅内钙化是否完全可由放射治疗解释。
本病例提示FA、颅内钙化和精神病之间存在联系，其中颅内钙化可能导致了精神症状。目前，缺乏关于颅内钙化精神症状特征及其治疗的证据。本例将有助于阐明该疾病的发病机制并制定适当的治疗方案。
