Fahr's Disease With Intracerebral Hemorrhage at the Uncommon Location: A Case Report

Fahr's disease (FD) is a rare neurologic disorder characterized by the symmetric and bilateral intracerebral calcification in a patient. We describe the case of a 65-year-old woman who presented with gait disturbance, abnormal mentality, and visual field defect. The result of a brain computerized tomography showed spontaneous intracranial hemorrhage in the right parieto-occipital area, and also showed the incidence of symmetric and bilateral intracerebral calcification. Moreover, laboratory studies indicated characteristic hypoparathyroidism. This brings us to understand that additionally, one of her sons also presented with similar intracerebral calcification, and was subsequently diagnosed with FD. Thus, her case was consistent with that of a patient experiencing FD. The patient had hypertension, which we now know might have caused the intracerebral hemorrhage. However, this patient's brain lesions were in uncommon locations for spontaneous intracerebral hemorrhage, and the lesions were noted as occurring away from the identified heavily calcified areas. Thus, it seemed that the massive calcification of cerebral vessels in the basal ganglia, the most common site of intracerebral hemorrhage, might have prevented a hypertensive intracerebral hemorrhage. Eventually, an intracerebral hemorrhage occurred in an uncommon location in the patient's brain.

A Novel Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients / 中华医学杂志(英文版)

<p><b>Background</b>Idiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and genotypes in Chinese IBGC patients.</p><p><b>Methods</b>Clinical information of the proband and her relatives were collected comprehensively. Blood samples of both the patient and her father were obtained, and genetic screening related to IBGC was performed using second generation sequencing with their consent. Findings were confirmed by Sanger sequencing. Polyphen-2 was used to predict the potential association between mutations and disease. Then, we retrieved literatures of Chinese IBGC patients and explored the association between phenotype and genotype.</p><p><b>Results</b>A novel mutation was identified through genetic testing, and it is suggested to be a damage mutation predicted by Polyphen-2. Through literature review, we found that SLC20A2 mutation is the most common cause for IBGC in China. Its hot spot regions are mainly on the 1 and 8 exons; the second common one is PDGFB where the hot spot covered a length of 220-230 bp localized on the 2 exon; moreover, Chinese IBGC patients featured early-onset, more severe movement disorder and relatively mild cognitive impairment compared with those in other countries.</p><p><b>Conclusions</b>There is significant heterogeneity both in phenotype and genotype in Chinese IBGC patients. Further research of pathogenic mechanism of IBGC is required to eventually develop precise treatment for individuals who suffered this disease.</p>

Clinical feature of familial idiopathic basal ganglia calcification / 临床神经病学杂志

Objective To investigate the clinical features of familial idiopathic basal ganglia calcification (FIBGC).Methods Clinical data of 4 FIBGC patients from 2 families were analyzed retrospectively.Results The average age of 4 patients was(62.7 ±13.4)years old.The first symptom of 2 female patients was depression and schizophrenia, while 2 male patients displayed dementia and Parkinson's syndrome.Patients treated with vitamin D capsules,follow-up period for 3 to 6 months.All patients showed symptomatic improvement.Conclusions Clinical symptoms of FIBGC are complicated,and progressive development.The main symptom of female is mental symptoms, and male patients accompanied with dementia and dyskinesia.There is still no effective therapeutic plan for FIBGC.

Psychosis, Idiopathic Hypoparathyroidism and Basal Ganglia Calcification: A Case Report of Fahr’s Syndrome

Making a medical diagnosis in an elderly person presenting with first time psychiatric symptoms can be challenging. A 61 year old lady presented with 4 years history of tactile hallucinations in her legs and delusions of persecution, and 2 weeks history of depression and mild cognitive impairment. There were no other significant physical findings, except for dysarthria and fine bilateral hand tremors. As patient had no prior psychiatric history, she was investigated for differential diagnoses of late-onset schizophrenia, psychotic depression and early dementia. A thorough investigation for concomitant medical illnesses was done which revealed low serum calcium, high serum phosphate and relatively low serum parathyroid hormone levels. A diagnosis of Fahr’s syndrome (FS) was made based on history, hematological findings of idiopathic hypoparathyroidism and bilateral basal ganglia calcifications (BGC) on neuroimaging. Treatment of FS is non-specific and mainly symptomatic. This patient improved with treatment comprising antidepressant, antipsychotic and calcium supplement.

Bilateral Symmetrical Basal Ganglia Calcification with Atypical Presentation: A Case Series.

Physiological intracranial calcification is asymptomatic and is detected incidentally by neuroimaging. Pathological basal ganglia calcification (BGC) is caused by various causes such as metabolic disorders, infectious and genetic diseases, and others. The most common causes of pathological BGC are hypoparathyroidism and pseudohypoparathyroidism. We present three cases of bilaterally symmetrical BGC associated with hypoparathyroidism. All of them presented with seizures as the only presentation without any signs of hypocalcemia and without extrapyramidal features. One should not rule out hypoparathyroidism in the absence of other signs of hypocalcemia and extrapyramidal features. Biochemical analysis pertaining to hypoparathyroidism must be done. Timely treated patients can have a good prognosis.

Clinical research study of Familial Idiopathic Basal Ganglia Calcification from 8 family analysis / 中国神经精神疾病杂志

Objective To better understand the clinical characteristics of Familial Idiopathic Basal Ganglia Calcifi?cation (FIBGC), including at the perspective of hereditary pattern, clinical test results, onset age, clinical heterogeneity and the volume of basal ganglia calcification (VBGC). Method 8 Eight FIBGC families were collected and draw family pedigrees were draw. Analysis of was conducted on the patient's clinical test results, head CT and MRI changes, onset ag?es, relationship of clinical manifestations with VBGC. Results No significant difference was found in serum calcium, alu?minum, arsenic, cobalt, magnesium, phosphorus, iron, parathyroid hormone and calcitonin concentration between the fam?ily members of patients and healthy controls (P>0.05). Family members from 8 FIBGC families including the two with consanguineous marriage manifested autosomal dominant heredity. The severity of , symptomatic s was correlated with VBGCpatients showed the same clinical manifestations in the dyskinesia family. The psychiatric symptoms was not asso? ciated with VBGC whereas patients with dyskinesia had a large VBGC. There was a significant difference in onset age be?tween patients with psychiatric symptoms and those with dyskinesia. P.atients with dyskinesia suffer larger VBGC, and is characterized by Patients with dyskinesia had relatively later onset age (43.95 ± 2.47 y) whereas those with. psychiatric symptoms hadsymptomatic patients with early onset age (31.32±10.16y). The comparison of the onset age (43.954±2.473 vs. 31.319±10.156 y, t=4.438, P=0.001) and VBGC (1.748±0.622 vs. 0.392±0.276 cm3, t=2.518, P=0.028) with symptom?atic patients between dyskinesia and psychogenic families was significant. Conclusions Eight FIBGC families manifested autosomal dominant heredity. Patients with dyskinesia suffer have a larger VBGC and are associated with a, and is char?acterized by relatively later onset age. In contrast, patients with psychiatric symptomspsychogeny is not related withhave a the small VBGC and showedand their age of onset is young. earlier onset age.

Enfermedad de Fahr, una entidad patológica rara, revisión de la literatura a propósito de dos casos / Fahr Disease, A Rare Pathologic Entity, Literature Review in Relation of Two Cases

La enfermedad de Fahr es una entidad neurodegenerativa autosómica dominante poco frecuente, con incidencia en personas entre la cuarta y la quinta década de la vida, caracterizada por calcificaciones simétricas prominentes detectadas por tomografía computarizada en tálamo, cápsula interna, sustancia blanca, cerebelo y ganglios basales con o sin compromiso del núcleo dentado, sin que se relacione con alteraciones del metabolismo del calcio. Estos cambios pueden llevar a trastornos neuropsiquiátricos y síntomas piramidales, extrapiramidales y cerebelosos. En este artículo se exponen las manifestaciones clínicas, los hallazgos imaginológicos y la serología utilizada para llegar al diagnóstico de esta enfermedad con base en dos casos clínicos de la Clínica Universitaria Colombia en la ciudad de Bogotá.

Fahr's disease is an autosomal dominant neurodegenerative disease. It is infrequent, and it has an incidence between the fourth and fifth decade of life. It is characterized by prominent symmetrical calcifications detected in CT studies located on thalamus, internal capsule, white matter, cerebellum and basal ganglia with or without involvement of the dentate nucleus, without being related to calcium metabolism disorders. These changes may lead to neuropsychiatric disorders and pyramidal, extrapyramidal and cerebellar symptoms. In this article we expose the clinical manifestations, imaging findings and serology test used for the diagnosis of the disease based on two clinical cases in the Clínica Universitaria Colombia in Bogotá.

Prevalence of brain calcifications in a Brazilian cohort: a retrospective study in radiology services / Prevalência das calcificações cerebrais em uma coorte brasileira: estudo retrospectivo em serviços de radiologia

Brain calcifications may be present in a wide range of neuropsychiatric, infectious traumatic, neoplastic and endocrine conditions, associated with motor and cognitive symptoms. They are often considered "physiologic" or pathologic. OBJECTIVE: To determine the prevalence of brain calcifications in a Brazilian cohort. METHODS: 1898 consecutive patients underwent skull CTs, comprising 836 men and 1062 women. RESULTS: Among all 1898 patients, 333 (197 women and 136 men) presented with brain calcifications, representing an overall prevalence of 17.54%. The prevalence in the female group was 18.54% versus 16.26% in the male group. CONCLUSIONS: A growth in incidental findings on CT scans are likely as these exams become more widely available. However, a current debate between radiologists and regulators is set to redefine the CT usage, especially in the United States and the United Kingdom, considering new norms for use and radiation dosage per exam.

Calcificações cerebrais podem estar presentes em uma grande variedade de condições médicas, incluindo doenças infecciosas, endocrinológicas, traumáticas, neoplásicas, psiquiátricas e neurológicas, associados a diferentes manifestações clínicas. Elas são muitas vezes consideradas "fisiológicas" ou patológicas. OBJETIVO: Determinar a prevalência de calcificações cerebrais em uma coorte brasileira. MÉTODOS: 1898 pacientes consecutivos realizaram tomografia de crânio simples. 836 eram homens e 1062 eram mulheres. RESULTADOS: Entre todos os 1.898 pacientes, 333 (197 mulheres e 136 homens) apresentaram calcificações cerebrais. Assim, a prevalência total foi de 17,54%. No grupo feminino a prevalência foi de 18,54% e nos homens, 16,26%. CONCLUSÕES: Provavelmente os achados incidentais em tomografias computadorizadas (TC) serão crescentes, uma vez que estes exames estão mais disponíveis. No entanto, um debate atual entre radiologistas provavelmente deverá redefinir o uso de TC muito em breve, especialmente nos Estados Unidos e Reino Unido.

Fahr's Disease Presenting With Orofacial Dyskinesia

No abstract available.

Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome / 소아과

Down syndrome, the most common chromosomal abnormality, may be associated with various neurologic complications such as moyamoya syndrome, cervical spinal cord compression due to atlantoaxial subluxation, and basal ganglia damage, as well as epileptic seizures and stroke. Many cases of Down syndrome accompanied by isolated neurologic manifestations have been reported in children; however, Down syndrome with multiple neurologic conditions is rare. Here, we have reported a case of Down syndrome in a 10-year-old girl who presented with asymptomatic moyamoya syndrome, atlantoaxial subluxation with spinal cord compression, and basal ganglia calcification. To the best of our knowledge, this is the first report of Down syndrome, in a child, which was accompanied by these 3 neurologic complications simultaneously. As seen in this case, patients with Down syndrome may have neurologic conditions without any obvious neurologic symptoms; hence, patients with Down syndrome should be carefully examined for the presence of neurologic conditions.

Cerebral calcifications and schizophreniform disorder / Calcificações cerebrais e transtorno esquizofreniforme

OBJECTIVES: Discuss pathophysiological aspects of cerebral calcifications (CC) and highlight its importance related to the occurrence of neuropsychiatric syndromes. METHOD: Single case report. RESULT: Man 52 years old, 20 years after going through a total thyroidectomy, starts showing behavioral disturbance (psychotic syndrome). He was diagnosed as schizophrenic (paranoid subtype) and submitted to outpatient psychiatric treatment. During a psychiatric admission to evaluate his progressive cognitive and motor deterioration, we identified a dementia syndrome and extensive cerebral calcifications, derived from iatrogenic hypoparathyroidism. CONCLUSION: The calcium and phosphorus disturbances, including hypoparathyroidism, are common causes of CC. Its symptoms can imitate psychiatric disorders and produce serious and permanent cognitive sequelae. The exclusion of organicity is mandatory in any psychiatric investigative diagnosis in order to avoid unfavorable outcomes, such as in the present case report.

OBJETIVOS: Discutir aspectos fisiopatológicos das calcificações cerebrais (CC) e ressaltar sua importância na ocorrência de síndromes neuropsiquiátricas. MÉTODO: Relato de caso individual. RESULTADO: Homem 52 anos de idade, 20 anos após tireoidectomia total, iniciou com alteração comportamental (síndrome psicótica), foi diagnosticado como portador de esquizofrenia paranoide e encaminhado para ambulatório de psiquiatria. Durante internação psiquiátrica, para avaliação de importante deterioração cognitivo e motora, foi verificada a vigência de síndrome demencial e extensas CC, secundários a hipoparatiroidismo iatrogênico. CONCLUSÃO: Os distúrbios do metabolismo do cálcio e do fósforo, incluindo o hipoparatiroidismo, são causas frequentes de CC. Seus sintomas podem mimetizar transtornos psiquiátricos e provocar sequelas cognitivas permanentes. A exclusão de organicidade é mandatória durante toda investigação diagnóstica na psiquiatria, a fim de evitar desfechos desfavoráveis, como no presente relato de caso.

Two interesting cases highlighting an oblivious specialty of psychoneuroendocrinology.

Psychoneuroendocrinology deals with the overlap disorders pertaining to three different specialties. Awareness about the somatic manifestations of psychiatric diseases and vice versa is a must for all the clinicians. The knowledge of this interlinked specialty is essential because of the obscure presentation of certain disorders. Our first case was treated as depressive disorder, whereas the diagnosis was hypogonadism with empty sella. Our second patient was managed as schizophrenia and the evaluation revealed bilateral basal ganglia calcification and a diagnosis of Fahr's disease. We report these cases for their unusual presentation and to highlight the importance of this emerging specialty.

Familial Idiopathic Basal Ganglia Calcification

Familial idiopathic basal ganglia calcification(FIBGC) is an inheritable neurological condition characterized by calcium deposits in the basal ganglia and extra-basal ganglia areas. The condition manifests as parkinsonism and other variable neuropsychiatric symptoms. FIBGC is a rare condition, and its pathophysiology has not yet been fully elucidated. Here we report the results of a clinical study of two related patients diagnosed with FIBGC.

Analysis of etiology and CT with lacunar infarction in children / 中国医师进修杂志

Objective To evaluate the etiology and manifestation of computerized tomography(CT) with lacunar infarction in children. Methods Forty-three cases with lacunar infarction were studied.Results The casuses included minor head injury(21 cases),upper respiratory infection(8 cases),varicella(2 cases),mitochondrial encephalomyopathy(1 case),moyamoya diseses(1 case),systemic lupus erythematosus(1 case) and unknown causes(9 cases).The clinical manifestations included hemiparalysis(41 cases),aphasia(5 cases),epilepsy(10 cases),sudden deafness(2 cases).A total of 51 focal ischemic lesions were found with CT in 43 patients.CT scan in 15 cases showed punctuate calcification focus with circular infarcts of low density beside them in single or bilateral basal ganglia.The clinical symptoms in 40 cases disappeared within 12 weeks after therapy.Conclusions The review indicates that children with lacunar infarction have a favorable prognosis,which is probably a result of the difference in lacunar infarction etiology between children and adults.Basal ganglia calcification is somewhat association with acute hemiplegia in infants minor head trauma sustained.

Clinical Characteristics of Basal Ganglia Calcification Combined with Cerebral Infarction / 实用儿科临床杂志

Objective To explore the clinical characteristics and pathologic mechanism of basal ganglia calcification combined with cerebral infarction.Methods The clinical data,radiation demonstration and prognosis in 53 cases of cerebral infarction were reviewed retrospectively,31 cases with basal ganglia calcification and 22 cases without basal ganglia calcification.Results Cerebral infarction with basal ganglia calcification mostly occurded in infants and after slight traumar,CT scan all showed lacunar infarction in basal ganglia and MRA demonstrated no severe changes on cerebral vessal.Compared with the infants without basal ganglia calcification,the infants with basal ganglia calcification recovered quickly and had better prognosis.Conclusions The infants of cerebral infarction with basal ganglia calcification had unique clinical characteristics.The occurrence of cerebral infarction is closely associated with basal ganglia calcification which perhaps resulted from cerebral hypoxia and ischemia previously.