Schizophrenia and familial idiopathic basal ganglia calcification: a case report

2001 ◽  
Vol 31 (4) ◽  
pp. 741-747 ◽  
Author(s):  
B. CHABOT ◽  
C. ROULLAND ◽  
S. DOLLFUS

Background. Familial idiopathic basal ganglia calcification (FIBGC) is generally associated with neurological and psychiatric symptoms. An association between FIBGC and schizophrenia has been described but it remains uncertain. We studied the relationship between the presence and extent of basal ganglia calcification and schizophrenia in a multiply affected family.Method. Symmetrical basal ganglia calcifications (BGC) were detected on computerized tomography (CT) in a schizophrenic proband and led us to carry out CTs and standardized psychiatric evaluations (SADS – Endicott & Spitzer, 1978) in all available first-degree relatives (mother and six siblings).Results. Five subjects had BGC, including three subjects diagnosed as schizophrenic. Three subjects had no BGC and none of them was diagnosed as schizophrenic. We subdivided the BGC into three groups: massive (pallidum, striatum and dentate nuclei affected); medium (pallidum and striatum); and mild (pallidum only). The two subjects with massive BGC and one of the two with medium BGC had schizophrenia. The subject with mild BGC had no psychotic symptoms.Conclusion. Our results are consistent with the hypothesis that BGC favours the occurrence of a schizophrenia-like syndrome and that the risk of occurrence of this syndrome is proportional to the extent of calcification. These findings support the hypothesis that schizophrenia is determined by a disruption of thalamo–cortico–striatal circuits.

2019 ◽  
Vol 7 (12) ◽  
pp. 1483-1491
Author(s):  
Seiju Kobayashi ◽  
Kumiko Utsumi ◽  
Masaru Tateno ◽  
Tomo Iwamoto ◽  
Tomonori Murayama ◽  
...  

2021 ◽  
Vol 9 (24) ◽  
pp. 7169-7174
Author(s):  
Bei-Ni Fei ◽  
Hui-Zhen Su ◽  
Xiang-Ping Yao ◽  
Jing Ding ◽  
Xin Wang

2020 ◽  
Vol 79 (2) ◽  
pp. 238-241
Author(s):  
Meaghan Morris ◽  
Regina Kwon ◽  
Liam Chen

Abstract Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is a rare neurodegenerative disorder characterized by the accumulation of extensive parenchymal and vascular calcifications in the basal ganglia, with variable calcifications elsewhere in the brain. Typically, IBGC presents with neurologic and psychiatric symptoms in middle-aged adults. Recent genetic studies have identified alterations in 4 genes causing IBGC, including alterations in SLC20A2 on chromosome 8p11.2. Currently, there are no clinical descriptions of patients with IBGC occurring within the context of a complex genetic syndrome. Here, we present a case of pediatric 8p11 deletion with IBGC, hereditary spherocytosis, vitreoretinopathy, and focal cortical dysplasia. We review multiple cases of IBGC with pediatric onset due to SLC20A2 deletion in the literature, and raise the consideration of IBGC in the evaluation of pediatric patients with 8p11.2 deletion syndromes.


2005 ◽  
Vol 20 (8) ◽  
pp. 567-569 ◽  
Author(s):  
M. Sieberer ◽  
H. Haltenhof ◽  
B. Haubitz ◽  
B. Pabst ◽  
K. Miller ◽  
...  

AbstractIntracerebral calcifications are a facultative symptom of hypoparathyreoidism in 22q11.2 deletion syndrome (22qDS). We describe a patient with 22qDS, basal ganglia calcification (BGC) and psychotic symptoms and discuss the etiological connection of BGC with psychiatric symptoms. Future work needs to determine the prevalence of BGC in 22qDS and psychiatric disorders.


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