SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report
Abstract Background Primary familial brain calcification (PFBC) is a rare inherited neurological disorder characterized by bilateral basal ganglia calcification with a series of motor and nonmotor symptoms. Mutations in the SLC20A2 gene, encoding the PiT2 protein, are the major cause of the disease....
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BMC
2022-07-01
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| Series: | BMC Neurology |
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| Online Access: | https://doi.org/10.1186/s12883-022-02798-9 |
| _version_ | 1828787747030040576 |
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| author | Weiting Bu Lijing Hou Meijia Zhu Renyun Zhang Xiaoyu Zhang Xiao Zhang Jiyou Tang Xiaomin Liu |
| author_facet | Weiting Bu Lijing Hou Meijia Zhu Renyun Zhang Xiaoyu Zhang Xiao Zhang Jiyou Tang Xiaomin Liu |
| author_sort | Weiting Bu |
| collection | DOAJ |
| description | Abstract Background Primary familial brain calcification (PFBC) is a rare inherited neurological disorder characterized by bilateral basal ganglia calcification with a series of motor and nonmotor symptoms. Mutations in the SLC20A2 gene, encoding the PiT2 protein, are the major cause of the disease. Here, we report a Chinese PFBC family carrying a SLC20A2 gene mutation, and the proband presented with purely acute psychiatric symptoms, which has been rarely reported in this disease. Case presentation A 38-year-old woman was hospitalized due to disorganized speech; disordered thought contents; disorganized behaviour; emotional instability and lability; and grandiose words, actions and facial expressions. Brain computerized tomography (CT) revealed calcification in the basal ganglia; cerebellar dentate nuclei; and subcortical, periventricular, and deep white matter regions in she and her family members. Through mutation analysis, a heterozygous truncating mutation, c.1723G > T, p.(Glu575*), was identified in the SLC20A2 gene in this family. Thus, this patient was diagnosed with genetically confirmed PFBC, and she responded well to a low dose of antipsychotic drugs. The penetrance of the disease in this family was only 33%, which was significantly lower than that in most families carrying SLC20A2 gene mutations. Conclusions Patients with SLC20A2-related PFBC might present with psychiatric symptoms alone, and the penetrance of the disease may be quite low, which adds to the clinical heterogeneity of the disease. |
| first_indexed | 2024-12-12T00:37:20Z |
| format | Article |
| id | doaj.art-14f275b4d7b64ea09d40a87340f82373 |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-12-12T00:37:20Z |
| publishDate | 2022-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-14f275b4d7b64ea09d40a87340f823732022-12-22T00:44:19ZengBMCBMC Neurology1471-23772022-07-012211510.1186/s12883-022-02798-9SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case reportWeiting Bu0Lijing Hou1Meijia Zhu2Renyun Zhang3Xiaoyu Zhang4Xiao Zhang5Jiyou Tang6Xiaomin Liu7Department of Neurology, Shandong Provincial Qianfoshan Hospital, Weifang Medical UniversityInstitute of Traditional Chinese Medicine Pharmacology, Shandong Academy of Chinese MedicineDepartment of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan HospitalDepartment of Psychiatry, Shandong Mental Health Center Affiliated to Shandong UniversityDepartment of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan HospitalDepartment of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan HospitalDepartment of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan HospitalDepartment of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan HospitalAbstract Background Primary familial brain calcification (PFBC) is a rare inherited neurological disorder characterized by bilateral basal ganglia calcification with a series of motor and nonmotor symptoms. Mutations in the SLC20A2 gene, encoding the PiT2 protein, are the major cause of the disease. Here, we report a Chinese PFBC family carrying a SLC20A2 gene mutation, and the proband presented with purely acute psychiatric symptoms, which has been rarely reported in this disease. Case presentation A 38-year-old woman was hospitalized due to disorganized speech; disordered thought contents; disorganized behaviour; emotional instability and lability; and grandiose words, actions and facial expressions. Brain computerized tomography (CT) revealed calcification in the basal ganglia; cerebellar dentate nuclei; and subcortical, periventricular, and deep white matter regions in she and her family members. Through mutation analysis, a heterozygous truncating mutation, c.1723G > T, p.(Glu575*), was identified in the SLC20A2 gene in this family. Thus, this patient was diagnosed with genetically confirmed PFBC, and she responded well to a low dose of antipsychotic drugs. The penetrance of the disease in this family was only 33%, which was significantly lower than that in most families carrying SLC20A2 gene mutations. Conclusions Patients with SLC20A2-related PFBC might present with psychiatric symptoms alone, and the penetrance of the disease may be quite low, which adds to the clinical heterogeneity of the disease.https://doi.org/10.1186/s12883-022-02798-9Primary familial brain calcificationPsychiatric symptomsSLC20A2 geneMutationCase report |
| spellingShingle | Weiting Bu Lijing Hou Meijia Zhu Renyun Zhang Xiaoyu Zhang Xiao Zhang Jiyou Tang Xiaomin Liu SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report BMC Neurology Primary familial brain calcification Psychiatric symptoms SLC20A2 gene Mutation Case report |
| title | SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report |
| title_full | SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report |
| title_fullStr | SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report |
| title_full_unstemmed | SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report |
| title_short | SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report |
| title_sort | slc20a2 related primary familial brain calcification with purely acute psychiatric symptoms a case report |
| topic | Primary familial brain calcification Psychiatric symptoms SLC20A2 gene Mutation Case report |
| url | https://doi.org/10.1186/s12883-022-02798-9 |
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