Bilateral Basal Ganglia Calcification Research Articles

The Clinical Significance of Bilateral Basal Ganglia Calcification Presenting With Mania and Delusions

The authors present the case of a 37-year-old man who developed a psychotic manic episode and was found to have bilateral basal ganglia calcification (BGC). The authors present this case report along with a discussion of the literature on the neuropsychiatry of BGC.

Idiopathic bilateral basal ganglia calcification presenting with psychotic depression and criminal violence (Fahr's Disease): A case report with forensic aspect

Idiopathic bilateral basal ganglia calcification presenting with psychotic depression and criminal violence (Fahr's Disease): A case report with forensic aspect

Presentación atípica de síntomas psiquiátricos: enfermedad de Fahr

Fahr disease is a syndrome of unknown etiology, consisting of bilateral idiopathic calcifications of basal ganglia and neuropsychiatric symptoms. We describe the case of a 70 year old man with no psychiatric background, admitted to the hospital due to the presence of depressive symptoms with economic and guilt delusions and suicidal idea. He suffered a depression 3 years ago that completely resolved with mirtazapine, and calcifications of basal ganglia were a casual finding in the CT. In the current hospital admission, the lack of efficacy of antidepressant, antipsychotic and anxiolytic treatment lead to a severe melancholy stupor that indicated electroconvulsive therapy, which controlled both the psychotic and affective symptoms, but a cognitive impairment state was observed once the psychiatric symptoms resolved.

Bilateral Papilledema in Hypocalcemia

Papilledema is a rare but recognized complication of hypocalcaemia with primary or surgically induced hypoparathyroidism. We report a case with primary hypocalcaemia who presented with bilateral cataract with Papilledema as the first clinical manifestation. Long-term complications of chronic hypocalcaemia like bilateral cataract, papilledema and basal ganglia calcification are rare. In this case we are highlighting the importance of hypocalcaemia as a rare but eminently treatable cause of Papilledema.

Adult-Onset Progressive Spastic Paraparesis Due to a Novel, Heteroplasmic Mitochondrial tRNAGlu (m.14685A>G) Gene Mutation (IN7-1.010)

Objective: We report a 45 year old lady with a five year history of progressive spastic paraparesis and ataxia. Background There was visual impairment – cataracts aged 8 and primary photo–receptor retinopathy, bilateral sensory–neural deafness as a teenager and stroke–like episodes as an adult. She was initially believed to have Usher9s syndrome and then congenital rubella following evidence of bilateral basal ganglia calcification on MRI brain. Family history was unremarkable, a male sibling had spina–bifida whilst her maternal grandmother had multiple sclerosis. Design/Methods: Investigations revealed elevated plasma lactate, with no evidence of CSF abnormalities, or CSF rubella RNA and rubella specific intrathecal antibodies. Brain MRI demonstrated progressive atrophy of the cerebral hemispheres and spinal cord, and the existing basal ganglia and thalamic calcifications. Muscle biopsy revealed numerous COX-deficient fibres, some of which showed “ragged-red” changes. Results: Having excluded common mtDNA mutations, sequencing of the entire mitochondrial genome was undertaken, identifying a novel, heteroplasmic m.14685G>A tRNAGlu (MTTE) variant affecting an evolutionary conserved nucleotide within the TψC arm of the mt-tRNAGlu molecule. Single fibre PCR analysis revealed segregation of m.14685G>A mutation with the COX deficiency, confirming pathogenicity of this novel mt-tRNA mutation. She died of broncho-pneumonia. Autopsy revealed generalised cerebral atrophy with dense calcification of the lentiform nuclei with neuronal loss and gliosis. Mutation analysis of post-mortem skeletal and cardiac muscle tissues confirmed the m.14685G>A MTTE gene mutation at intermediate levels of heteroplasmy (42% and 68% respectively) whilst genetic analysis of the family indicated that the mutation had arisen sporadically. Conclusions: This is an unusual presentation of adult–onset spastic paraparesis related to mitochondrial dysfunction, due to a novel, pathogenic mtDNA mutation. Mitochondrial diseases are an important differential of Usher9s syndrome which can manifest into adulthood, and of perinatal infections (TORCH complex) which can involve the eye and CNS with focal cerebral calcification. Disclosure: Dr. Gnanapavan has nothing to disclose. Dr. Alston has nothing to disclose. Dr. Lax has nothing to disclose. Dr. Yarham has nothing to disclose. Dr. Everett has nothing to disclose. Dr. Hewazy has nothing to disclose. Dr. O9Donovan has nothing to disclose. Dr. Dean has nothing to disclose. Dr. Taylor has nothing to disclose.

Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRMP6 gene mutation

Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare condition caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Patients usually present during early infancy with symptomatic hypocalcemia; however, intracranial calcification has not been previously reported in HSH. We report on a three-month-old Saudi girl who presented with hypocalcemic convulsions and was initially treated as nutritional rickets. However, further biochemical analysis of blood and urine were suggestive of HSH. This diagnosis was confirmed by mutation analysis, which identified a novel homozygous frame shift mutation (ins 2999T) of the TRPM6 gene. A computed tomography brain scan, done around the time of diagnosis, identified bilateral basal ganglia calcification (BGC). Her serum calcium and the BGC improved with magnesium replacement. BGC can be added as a new feature of HSH and the case highlights the importance of measuring serum Mg in patients with hypocalcemic convulsions, particularly in children of consanguineous parents.

Idiopathic hypoparathyroidism and systemic sclerosis: An association likely missed

Hypoparathyroidism in systemic sclerosis is extremely rare with only a single case reported till date. Idiopathic hypoparathyroidism with systemic sclerosis was diagnosed in a 59-year-old gentleman who had presented with recurrent seizures, instability of gait, skin thickening and tightening over both legs and forearms, and arthritis. Examination was significant for positive Trousseau sign and cerebellar ataxia. Evaluation revealed bilateral symmetrical cerebellar and basal ganglia calcification, sensorineural deafness, low serum calcium, elevated serum phosphorus, normal magnesium, normal vitamin D, low plasma parathyroid hormone, high titer of thyroid peroxidase antibody, positive centromere pattern antinuclear antibody, strongly positive anti-topoisomerase-1 (Scl-70) antibody, nonvisualization of parathyroids on neck ultrasonography and skin biopsy suggestive of hyperkeratosis, increased collagen in dermis, and perivascular lymphomononuclear cell infiltration compatible with scleroderma. Last evaluated 10 months after the diagnosis, his ataxia had improved, he remained seizure-free, Trousseau sign was negative, and he had low-normal calcium calcium with calcium carbonate and calcitriol supplementation and switch from phenytoin to valproate. Further studies are warranted to study the use of serum calcium as a screening test for hypoparathyroidism in patients with systemic sclerosis.

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.

Fahr’s Disease: Report of Two Cases

Two cases of Fahr’s disease (one female and one male) are reported here. One is young and symptomatic with neuropsychiatric disturbances. The second case is old and asymptomatic, detected incidentally on CT scan when he presented with cerebrovascular accident. Both of them had intracranial calcifications in bilateral basal ganglia and cerebral hemispheres. CT scan helped in establishing the diagnosis. Key Words: Fahr’s disease; Fahr’s syndrome; Bilateral striopallido dentate calcifications DOI: http://dx.doi.org/10.3126/ajms.v2i2.3207 Asian Journal of Medical Sciences 2 (2011) 120-123

P21.9 Acquired toxoplasmosis as a rare cause of cerebellitis in immunocompetent child

primary influenzae A infection. Follow-up MR brain of both siblings showed bilateral atrophic changes of basal ganglia and marked cerebral atrophy. Follow-up CT brain showed bilateral basal ganglia calcifications over caudate nuclei and putamen. MECP2 duplication, nup62 and ARX gene mutations were negative. They did not response to Ldopa, biotin (5mg/kg/day) and pyridoxine. They are severely affected by their extrapyramidal symptoms, and had acquired microcephaly and severe global developmental delay. Conclusion: This report suggested a possible role of influenzae A in the pathomechanism of IBSN in a genetically predisposed family. In view of the phenotypic similarities between IBSN and BBGD, further assessment and comparison of these disorders and their responsiveness to biotin may reveal new information regarding the mechanism of striatal necrosis.

HIV encephalopathy in a child in the presence of a high CD4 count: a rare presentation

A two-year-old girl presented with regression of developmental milestones for the last three and a half months. She was diagnosed as HIV-positive, but her CD4 count was found to be normal. Computed tomography (CT) scan of her brain showed bilateral basal ganglia calcification with cortical atrophy. A final diagnosis of HIV encephalopathy was made which had occurred despite a normal CD4 count, which is extremely uncommon.

Intramuscular Hemangioma of the Temporalis Muscle With Incidental Finding of Bilateral Symmetric Calcification of the Basal Ganglia: A Case Report

We report an 11-year-old boy whose brain computed tomography findings incidentally revealed bilateral basal ganglia calcification. He was symptom-free and had no abnormal neurological findings. He was diagnosed with Fahr's disease based on radiological findings and after excluding other etiologies such as infection, metabolic disorders, congenital malformation and malignancies. Most of the reported cases display an autosomal dominant mode of inheritance. Although Fahr's disease is a rare cause of basal ganglia calcification in children, this disease should be considered in children with a family history of neuropsychiatric disorders.

Interferon‐Related Transcriptome Alterations in the Cerebrospinal Fluid Cells of Aicardi‐Goutières Patients†

Aicardi-Goutières syndrome (AGS) is a rare interferon (IFN)-related encephalopathy with onset during the first year of life. AGS, is clinically characterized by progressive microcephaly, bilateral basal ganglia calcification, cerebral atrophy, cerebrospinal fluid (CSF), lymphocytosis, delayed development of psychomotor abilities with pyramidal-extrapyramidal syndrome and mimics congenital viral infections. Microarray analysis examining the expression of 18 880 human genes has been applied to the CSF lymphocytes of 20 AGS cases (age 4.5 +/- 4.4 years, mean +/- standard deviation) characterized by high IFN-alpha levels in CSF and 20 matched controls (age 4.4 +/- 4.3 years, mean +/- standard deviation). Gene-expression data reveal significant differences between AGS cases and controls for all controls and 18 AGS cases. The two AGS cases unclassified as compared with controls were both older than 7 years. AGS cases presented upregulation of genes involved in IFN-dependent pathways and lymphocyte functions, paralleled by the downregulation of genes encoding for angiopoietic activities. The cystatin F and DNAJ genes, having a negative feedback on IFN pathways, underwent a progressive age-related increase in their expression. These gene-expression signature parallels a progressive attenuation of clinical symptoms with age. Obtained results provide evidence that exposure to IFN-alpha is harmful for developing brain.

A case report of Basal Ganglia calcification - a rare finding of hypoparathyroidism.

Physiological intracranial calcification occurs in about 0.3-1.5% of cases. It is asymptomatic and detected incidentally by neuroimaging. Pathological basal ganglia calcification is due to various causes, such as: metabolic disorders, infectious and genetic diseases. Hypoparathyroidism and pseudohypoparathyroidism are the most common causes of pathological basal ganglia calcification. Besides tetany and seizures this condition is presented by parkinsonism and dementia. Such parkinsonism does not respond to drugs containing levodopa. Infections (toxoplasmosis, rubella, cytomegalovirus, cysticercosis, AIDS) give multiple and asymmetric intracranial calcification. Inherited and neurodegenerative diseases cause symmetrical, bilateral basal ganglia calcification which is not related to metabolic disorders. Since adequate treatment of hypoparathyroidism may lead to marked clinical improvement, serum concentration of calcium, phosphorus, and parathyroid hormone (PTH) is suggested to be determined in all individuals with calcification of the basal ganglia to rule out hypoparathyroidism.

Dystonie généralisée sévère liée à des calcifications cérébrales postradiques

Introduction Cerebral calcifications are a cause of secondary dystonia and may be an uncommon complication of radiotherapy. We report a very severe case of generalized dystonia due to postradiotherapy basal ganglia calcifications. Case report An 8-year-old girl received 53 grays radiotherapy after surgery for craniopharyngioma. One year later she developed generalized dystonia. Computed tomography showed bilateral basal ganglia calcifications, especially of the lenticular nuclei. Pharmacological treatment with tetrabenazine, clonazepam and trihexiphenydile allowed a very limited improvement of dystonia; the course was complicated by dystonic storms and decompensations resulting from the iatrogenous panhypopituitarism. Conclusion This case illustrates a severe complication of cranial irradiation which should be considered in the indications of this treatment, especially for children.

Basal Ganglia Calcification and Pulmonary Embolism in Catatonia

Back to table of contents Previous article Next article LETTERFull AccessBasal Ganglia Calcification and Pulmonary Embolism in CatatoniaBenjamin Kai Pan Woo M.D.,Benjamin Kai Pan Woo M.D.Search for more papers by this author,Published Online:1 Oct 2007AboutSectionsPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack Citations ShareShare onFacebookTwitterLinked InEmail SIR: The pathophysiology of catatonic symptoms remains unknown. Association between basal ganglia calcification and catatonic schizophrenia has been described, but it remains uncertain. 1 Medical complications that have been associated with catatonia include dehydration, aspiration pneumonia, rhabdomyolysis, deep venous thrombosis, and pulmonary embolism (PE). 2 Our clinical vignette describes a male with schizophrenia who presented with catatonia and subsequently developed pulmonary embolism. This case highlights early prophylactic anticoagulation is necessary to prevent catastrophic outcome of acute PE. Case Report“Mr. B” was a 31-year-old white man with schizophrenia who presented to the emergency room with refusal of oral intake, and severe psychomotor retardation and posturing. Two days prior, the patient developed paranoid, auditory hallucinations, and became depressed. At baseline he was not taking any medication and was able to function with assistance from his brother. Patient was obese (BMI=50.2), but otherwise his medical and family history was unremarkable.His present evaluation was remarkable for confusion, depressed mood, rigid posture, and hypoactive motor level. Patient was “not answering any questions.” He exhibited catatonic features, such as mutism, posturing, anorexia, and extreme negativism. His vital signs were within normal limits. Physical exam revealed a stuporous individual, unresponsive to commands or noxious stimuli, with brisk reflexes, and fixed and unblinking stare. EEG demonstrated a small amount of right temporal activity without any features suggestive of encephalitis or epilepsy. ECG shows sinus rhythm, no ischemic changes, with a QTc interval of 0.47 sec.On day 3, patient was transferred to the ICU for loss of consciousness and hypoxia. A computed tomogram (CT) of the head revealed bilateral basal ganglia calcifications, greater on the left than right. D-dimer was 5964 (normal range<500 ng/ml), and CT chest angiogram was conclusive for PE. Transthoracic Echocardiogram captured a clot in transit through the patent foramen ovale. Laboratory testing was otherwise unremarkable, including serum calcium (9.8 mg/dl), parathyroid hormone (17 pg/ml), hemoglobin A1C (5.5%), and a negative hypercoagulable workup.Therapeutic anticoagulation was achieved with heparin then warfarin. Patient was also administered low dose lorazepam to suspend catatonic features.Comment This case adds to other reports 1 , 3 of psychotic features and catatonia associated with calcification of basal ganglia pathways. Catatonia in schizophrenia maybe determined by a disruption in the thalamo-cortico-striatal circuits. In this case, the calcification is neither associated with calcium nor parathyroid disorders. 3 The risk of fatal pulmonary embolism is inherent in catatonic symptoms. A previous study 4 suggests death from PE would occur after the second week of catatonic symptoms and often occurred without warning. Our case adds that in an obese schizophrenia male with no hypercoagulability and past medical history, pulmonary embolism may actually occur within the first week of catatonia. Patients with catatonia are likely to develop PE as a result of deep venous thrombosis from immobility. While a study 5 has suggested complete anticoagulation during immobility would be beneficial, the role of anticoagulant medications in catatonic patients is unclear. 4 Our case adds that treating catatonia with benzodiazepines, along with DVT/PE prophylaxis, would likely prevent catastrophic outcome. UCLA-Kern Psychiatry Residency ProgramReferences1 . Northoff G: Catatonia and neuroleptic malignant syndrome: psychopathology and pathophysiology. J Neural Transm 2002; 109:1453–1467Google Scholar2 . Lachner C, Sandson NB: Medical complications of catatonia: a case of catatonia-induced deep venous thrombosis. Psychosomatics 2003; 44:512–514Google Scholar3 . Lauterbach EC, Spears TE, Prewett MJ, et al: Neuropsychiatric disorders, myoclonus, and dystonia in calcification of basal ganglia pathways. Biol Psychiatry 1994; 35:345–351Google Scholar4 . McCall WV, Mann SC, Shelp FE, et al: Fatal pulmonary embolism in the catatonic syndrome: two case reports and a literature review. J Clin Psychiatry 1995; 56:21–25Google Scholar5 . Van Harten PN, Van Agtmael MA: Complete anticoagulation for treatment of neuroleptic malignant syndrome? Am J Psychiatry 1995; 152:1103–1104Google Scholar FiguresReferencesCited byDetailsCited ByMedical Mimics of Psychiatric Illnesses5 January 2021A Psychiatric Patient With Catatonia and Pulmonary ThromboemboliMostafa Hamdieh, M.D., Nilufar Safaie, and Maryam Abbasinejad1 January 2014 | The Journal of Neuropsychiatry and Clinical Neurosciences, Vol. 26, No. 1Delayed Diagnosis in an Elderly Schizophrenic Patient with Catatonic State and Pulmonary EmbolismInternational Journal of Gerontology, Vol. 7, No. 3 Volume 19Issue 4 Fall, 2007Pages 472-473 Metrics PDF download History Published online 1 October 2007 Published in print 1 October 2007

Aicardi-Goutières syndrome: clinical, laborchemical and neuroradiological findings in the first two years of life of an early diagnosed patient

Introduction: Aicardi-Goutières syndrome (AGS) is a rare progressive encephalopathy. AGS is caused by homozygous mutations of at least 4 genes. The clinical syndrome is characterised by acquired microcephaly, bilateral basal ganglia calcifications, early loss of myelin, chronic cerebrospinal fluid (CSF) lymphocytosis and high interferon-alpha levels in plasma and in CSF. Case report: We report of a 5-month–old male patient who presented with irritability, feeding difficulties, psychomotor delay and trunk hypotonia. The patient showed a paroxysmal movement disorder characterized by crying spells with hypertonia and limb dystonia, occasionally triggered by acustic/tactile stimuli and lasting for several hours. Imaging revealed diffuse leucodystrophy without calcifications. Abnormal CSF findings included lactic acidosis, high protein content, lymphocytosis and extremely high neopterin and tetrahydrobiopterin combined with normal 5-methyltetrahydrofolate levels. The high titer of interferon-alpha in serum and CSF in the absence of any signs of infection pointed towards the diagnosis, which was established by the identification of pathogenic mutations in the AGS3/AYP1-gene (D39Y/D115fs).

Evolution of Brain Imaging Abnormalities in Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes

An 18-year-old man developed consecutive homonymous hemianopias that were eventually attributed to mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). The diagnosis was initially suspected when brain CT scans showed bilateral dystrophic basal ganglia calcifications and MR spectroscopy later showed a prominent lactate peak. Diffusion-weighted MRI showed progressive evolution of restricted proton diffusion at the margins of the lesion from day 3 through 3 weeks. Genetic testing from peripheral blood confirmed an A3243G transition in the patient's MTTL1 gene encoding the transfer RNA for leucine. The patient's visual function improved, but severe atrophy of gray and white matter was visible on MRI.

Alterações comportamentais graves em paciente com doença de Fahr

We report on a case of a 40 year-old man with Fahrs disease, defined by idiopathic bilateral basal ganglia calcification, who developed depressive disorder, motor and phonic tics, stereotyped behaviors such as punding and personality changes with significant social and familiar implications. We discuss about the psychopathology of Fahrs disease and the relevance of the basal ganglia in the determination of humans behavior.

Case of Aicardi-Goutières Syndrome With Long-lasting Increase of Cerebrospinal Interferon-α

Aicardi-Goutières syndrome is a rare progressive encephalopathy characterized by a typical clinical picture, bilateral basal ganglia calcifications, leukodystrophy and brain atrophy, lymphocytosis, and elevated interferon-alpha in the cerebrospinal fluid. Among the cases described to date, variability in the clinical expression or in the cerebrospinal fluid abnormalities has been reported. We present a case with a delayed diagnosis at the age of 8 years, when brain computed tomography was done because there was no first image from the age of 8 months, when the disease started. Symmetric basal ganglia calcifications were visualized and led to purposeful investigation of the cerebrospinal fluid. It revealed an interferon-alpha titer of 103 IU/mL, which, together with the progressive brain damage and disease course, was crucial for the diagnosis. This rare finding of long-term highly elevated interferon-alpha in the cerebrospinal fluid is discussed with respect to the clinical course.