Bilateral Striopallidodentate Calcinosis Research Articles

Bilateral cataract in Fahr’s syndrome: A rare case presentation

Fahr’s syndrome refers to a rare syndrome characterized by symmetrical and bilateral intracranial calcification. A 17-year-old female presented with bilateral diminution of vision. The patient had a history of dystonia with distal limbs involvement. An ocular examination revealed a bilateral cataractous lens. CT scan of the brain and orbit revealed bilateral, large area of bilateral calcification over the thalamus, basal ganglia, subcortical white matter, dentate, and cerebellar hemisphere. The secondary causes of bilateral calcification were excluded to make the clinical diagnosis of idiopathic bilateral striopallidodentate calcinosis, which is known as Fahr’s syndrome. Our aim in this case is to highlight the ophthalmic manifestation of a rare neurological syndrome.

Bilateral striopallidodentate calcinosis due to primary hypoparathyroidism presenting with chorea and seizure

Abstract Bilateral striopallidodentate calcinosis (BSPDC) is a rare genetic neurodegenerative disorder. There are multiple causes of BSPDC; however, primary hypoparathyroidism is the most common cause of secondary BSPDC. BSPDC can present with various neurological conditions, including movement disorders such as parkinsonism, chorea, and dystonia. Here, we report the case of a 48-year-old man who had a past history of seizure and presented to our department with chorea (predominant right hemichorea). On detailed evaluation, he was found to have low calcium, high phosphate, and low parathormone, suggestive of primary hypoparathyroidism. There was remarkable improvement in chorea with treatment. We suggest that hypoparathyroidism should be suspected in all cases of BSPDC and movement disorders.

Bilateral Striopallidodentate Calcinosis in Female: A case report

Bilateral striopallidodentate calcinosis (BSPDC) is associated with many neurological and psychiatric abnormalities and most commonly present with extra pyramidal symptoms and can be idiopathic or associated with endocrinopathy, frequently with parathyroid disorders. Here we describe a case who presented with generalized seizure. During workup, the cause of seizure was found to be bilateral and symmetric, extensive, irregular, intraparenchymal calcifications involving the basal ganglia, thalamus and dentate nucleus, white matter in the frontal, parietal, and occipital lobes and dentate nuclei of cerebellum. On the basis of clinical features, investigations, and exclusion of other causes of intracranial calcification a clinical diagnosis of BSPDC was made. BSPDC should be considered in the differential diagnosis of endocrinopathy particularly parathyroid disorders, when associated with neurological and psychiatric abnormalities.

The Effects of Lee - Silverman Voice Treatment on Voice and Swallowing Functions in a Case with Bilateral Striopallidodentate Calcinosis

Bilateral striopallidodentate calcinosis (BSPDC) is a rare neurodegenerative disorder characterized by abnormal calcium accumulation in the basal ganglia, dentate nucleus, and semioval center. Speech, voice, and swallowing abnormalities can be associated with the disease. However, there are a limited number of studies regarding the speech and swallowing characteristics of this disease in the literature. Lee-Silverman voice therapy (LSVT-LOUD) is a structured speech therapy method that can be used to treat neurogenic conditions. The main purpose of this article was to document the effects of LSVT-LOUD on voice and swallowing functions in a case of BSPDC. Case report. A comprehensive voice and swallowing evaluation, including objective methods, was conducted before therapy and at post-therapy follow-ups (FU) after 3 months and 6 months. The voice and swallowing parameters were substantially improved at the 3-month FU; at the 6-month FU, the improvement in swallowing function was still preserved; however, the improvement in voice function had regressed. LSVT-LOUD may improve the voice and swallowing functions of patients with BSPDC. However, long-term retention of the effects of LSVT-LOUD should be investigated in future studies.

Fahr’s Disease Presenting with Manic Symptoms

Bilateral striopallidodentate calcinosis, commonly known as Fahr's disease, is a rare syndrome characterised by symmetrical calcification over the basal ganglion and dentate nucleus. No case of Fahr's disease with associated manic symptoms has been described in the literature to date. We report an unusual case of Fahr's Disease in a 18 year old unmarried male who presented to the emergency department of Universal College of Medical Sciences - Teaching Hospital, Nepal with symptoms of mania. Computed tomographic scan of the patient demonstrated extensive symmetrical calcification over the basal ganglia and dentate nuclei. No underlying cause for the bilateral calcification was found. This rare case of Fahr's disease, which has never been reported in Indian literature has been reported to highlight this unusual condition and its differentiation from the commoner Fahr's syndrome.

Bilateral striopallidodentate calcinosis associated with Sjögren's syndrome and IgDλ monoclonal gammopathy of undetermined significance

We presented the first case of bilateral striopallidodentate calcinosis secondary to Sjögren's syndrome. Further consideration should be given to the association between Sjögren's syndrome and bilateral striopallidodentate calcinosis, because Sjögren's syndrome is latent, but more frequent than other autoimmune diseases.

Bilateral striopallidodentate calcinosis in a patient with myasthenia gravis

Bilateral symmetric calcification involing striatum, pallidum with or without deposit in dentate nucleus is reported fromasymptomatic individuals to a variety of neurological conditions. Clinically it may present with an array of movement disorders,dementia, cerebellar impairment and speech disorder. We report a myasthenia gravis patient with dysarthria which did notrespond to pyridostigmin. Brain MRI showed bilateral striopallidodentate calcinosis (BSPDC). To our knowledge, there is noreported case having anti-acetylcholine receptor antibody and massive intracranial calcifications. This case indicates thatBSPDC may develop in diverse neurological disorders.

Fahr Disease (Idiopathic Basal Ganglia Calcification)

Fahr disease is a disorder of bilateral striopallidodentate calcinosis. Common clinical findings include neuropsychiatric symptomes, seizures, dementia, speech difficulties, parkinsonism, distonia, chorea, and ataxia. It’s suggested that calcium metabolism disorders, systemic diseases, radiation, anoxia, toxins, and encephalits etc.may cause this disease. In this paper a 10-year old patient with Fahr syndrome is presented with relevant clinical, endocrinological and radiological aspects.

Secondary bilateral striopallidodentate calcinosis associated with generalized pustular psoriasis (Von Zumbusch)

Bilateral striopallidodentate calcinosis (BSPDC) mentioned in the literature as Fahr's disease (a misnomer), is characterized by symmetrical and bilateral intracerebral calcifications located in the basal ganglia with or without deposits in the dentate nucleus, thalamus, and white matter. This entity is usually asymptomatic but may be manifested by neurological symptoms. Idiopathic BSPDC can occur either as sporadic or autosomal dominant familial forms. Secondary presentations of BSPDC are associated with infections, neoplastic diseases, toxicological or traumatic factors, and metabolic disorders. We describe a case of generalized pustular psoriasis associated with secondary BSPDC owing to pseudohypoparathyroidism. Laboratory tests revealed hypocalcemia, hyperphosphatemia, and a normal serum level of parathormone. The correction of the phosphorus-calcium metabolism disorder produced clinical improvement.

Fahr’s Syndrome- An Interesting Case Presentation

Fahr's syndrome refers to a rare syndrome which is characterized by symmetrical and bilateral intracranial calcification. We are presenting a 63 year old male, who complained of progressive dysarthria of 6 months, which was associated with slowness of movements. His neurological examination revealed Parkinsonian features. His CT scan revealed a symmetrical large area of calcification over the basal ganglia, the thalamus and the cerebellum. The secondary causes of the bilateral calcification were ruled out to make the clinical diagnosis of Idiopathic Bilateral Striopallidodentate Calcinosis, which is otherwise called as the Fahr's syndrome. Deposits of calcium and minerals cannot be linked to a single chromosomal locus and further genetic studies are in progress for identifying the chromosomal locus of the disease.

A case of paroxysmal kinesigenic dyskinesia in idiopathic bilateral striopallidodentate calcinosis

Paroxysmal kinesigenic dyskinesia (PKD) is presented as a short paroxysmal attack of focal or generalized involuntary movement. Bilateral striopallidodentate calcinosis (BSPDC) is referred to as Fahr's disease and is characterized by the calcification of the basal ganglia, cerebellar nuclei and thalamus. Most common presentation of BSPDC was a parkinsonism, and PKD has also been reported to few of the cases with sporadic BSPDC. Here, we report the case of a 35-year-old-man with PKD for 19years, and we describe the pathogenesis of PKD in the BSPDC.

Bilateral striopallidodentate calcinosis presenting with psychiatric symptoms and speech disorders.

Ozdilek B, Uluc K, Gunal DI. Bilateral striopallidodentate calcinosis presenting with psychiatric symptoms and speech disorders.Background: Bilateral striopallidodentate calcinosis (BSPDC), also known as Fahr's disease, is a rare neurodegenerative disorder characterised by the deposition of calcium and other minerals in the basal ganglia, centrum semiovale and cerebellum. It is usually idiopathic. Its clinical manifestations vary from asymptomatic individuals to neuropsychiatric abnormalities, movement disorders, cerebellar symptoms and cognitive impairments.Methods: Five cases of BSPDC – all of which include psychiatric symptoms and speech problems – from two families are documented in this article.Conclusion: The most important diagnostic marker is the demonstration of symmetrical intracranial calcifications. Computerised tomography of the brain is the most frequently used radiologic method to diagnose BSPDC.

A Case of Idiopathic Basal Ganglia Calcification Associated with Membranoproliferative Glomerulonephritis

Idiopathic basal ganglia calcification (IBGC) is a syndrome in which bilateral cerebral calcification occurs despite the absence of abnormal calcium metabolism. A 17-year-old Japanese female was admitted for investigation of intermittent proteinuria from the age of 12 years. On admission, her blood pressure was 126/60 mmHg and her serum creatinine was 0.8 mg/dL. Although computed tomography revealed bilateral striopallidodentate calcinosis, her level of intelligence and neurological findings were normal, as were the results of endocrine tests including parathyroid hormone. Asymptomatic IBGC was diagnosed. Renal biopsy showed membranoproliferative glomerulonephritis. Peritoneal dialysis was started for end-stage renal failure when she was 24 years old. Pyramidal and extrapyramidal signs started to develop at the age of 27 years and progressed, resulting in death from aspiration pneumonia at the age of 32 years. Post-mortem revealed bilateral calcification of the basal ganglia, dentate nucleus, thalamus, and centrum semiovale. On light microscopy, there was circumferential calcification of the media and intima of affected vessels in the brain, including small arteries, small veins, and capillaries, and luminal narrowing was seen. On electron microscopy, layers of differing electron density were arranged in concentric laminae. This is the first report of IBGC with bilateral and symmetrical cerebral calcification accompanied by membranoproliferative glomerulonephritis resulting in end-stage renal failure.

Bilateral Striopallidodentate Calcinosis With Paroxysmal Kinesigenic Dyskinesia

Bilateral striopallidodentate calcinosis is characterized by calcification of the basal ganglia and other gray matter structures. We describe a 16-year-old boy with paroxysmal kinesigenic dyskinesia. He exhibited mineralization in the basal ganglia, posterior thalami, and dentate nuclei bilaterally, and was diagnosed with sporadic bilateral striopallidodentate calcinosis. The paroxysmal kinesigenic dyskinesia responded to low-dose treatment with carbamazepine (200 mg/day).

Family with migraine and idiopathic bilateral striopallidodentate calcinosis

Family with migraine and idiopathic bilateral striopallidodentate calcinosis

Cerebral leukoencephalopathy with calcifications and cysts operated for signs of increased intracranial pressure: case report

Background Association of leukoencephalopathy with calcifications and cysts is extremely rare. It should be differentiated from FD or bilateral striopallidodentate calcinosis and astrocytoma. Yet, there are many other clinical syndromes featuring bilateral symmetric cerebral calcifications. Neuroradiologic and histopathologic findings are more helpful than clinical picture in differentiating these 3 entities from each other. Case Description We report a sporadic case operated for signs of increased ICP and cerebellar cystic mass. The patient had symmetric bilateral cerebral and cerebellar calcifications, white matter edema, and a secondary thalamic cyst as well. After resection of the cerebellar mass, clinical picture returned to normal and edematous findings on MRI resolved in addition to a decrease in size of the thalamic lesion on follow-up. Conclusion Patients with findings of cystic cerebral calcifications on CT scans should be followed cautiously for acute deterioration because surgery is indicated in cases having signs of increased intracranial pressure.

Generalized dystonia in a patient with bilateral striopallidodentate calcinosis responsive to botulinum toxin type A

Objective : To report a patient with bilateral striopallidodentate calcinosis with remarkable improvement after botulinum toxin type A (BTX-A) treatment. Background : Bilateral striopallidodentate calcinosis, commonly referred to as ‘Fahr's disease’, involves bilateral calcification of the striatum and pallidum, with or without deposits in dentate nucleus, thalamus and white matter. It may be asymptomatic, or may present with hypokinetic or hyperkinetic movement disorders. Methods : A 52-year-old female patient with bilateral striopallidodentate calcinosis presented with severe pain from generalized dystonia. She had been tried on numerous analgesic medications and also trihexiphenidyl and baclofen without pain relief. She had painful dystonia involving all 4 extremities and limitation in movement. A total of 500 MU of BTX-A (BOTOX, Allergan, Inc.) was injected into the most affected limb muscles. Marked improvement in pain and motor function developed in 7 days, reaching a maximum benefit after 12 days. Benefit starting wearing off with return of dystonia and pain in approximately 10 weeks after the injections. No immediate or delayed side effects were noted. Conclusions : We suggest that botulinum toxin type A is an effective therapy for painful dystonia from bilateral striopallidodentate calcinosis.

Transient Parkinsonism in bilateral striopallidodentate calcinosis

A normally developed 12-year-old female drank a cup of tea and could not sleep that night. The next morning, symptoms suggestive of parkinsonism developed, including progressive rigidity, akinesia, and a mask-like face. These signs lasted for 10 days. Brain computed tomography revealed multiple calcification, and thus she was diagnosed as having bilateral striopallidodentate calcinosis. Patients with bilateral striopallidodentate calcinosis exhibit various movement disorders. However, there have been no reports of transient parkinsonism associated with bilateral striopallidodentate calcinosis, including in children.

Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis

Bilateral striopallidodentate calcinosis (BSPDC, also known as Fahr's disease, a misnomer), is a rare disorder where bilateral, almost symmetric, calcium and other mineral deposits occur in subcortical nuclei and white matter. Neurological manifestations vary but movement disorders are the most common. Of the movement disorders, parkinsonism predominates. We describe 6 patients with BSPDC associated with parkinsonism. Of the 6 patients, one patient from an autosomal dominantly inherited family who responded to levodopa, showed Lewy bodies in substantia nigra neurons and changes consistent with BSPDC. Another patient, from the same family with clinical evidence of parkinsonism and radiological and neuropathological evidence of BSPDC, did not show Lewy bodies. Ten patients with BSPDC and parkinsonism (without evidence of parathyroid dysfunction) were found in the literature. When parkinsonism is associated with dementia and cerebellar signs, obtaining a CT scan may be helpful as BSPDC often presents with the above three conditions.

Bilateral striopallidodentate calcinosis: Clinical characteristics of patients seen in a registry

Clinical features in bilateral striopallidodentate calcinosis (BSPDC), popularly referred to as Fahr's disease (five autosomal dominant families and eight sporadic cases, n = 38), recruited through a registry, are reported. Applying uniform criteria, cases reported in the literature (n = 61) were combined for detailed analysis. The mean (+/- S.D.) age of Registry patients was 43 +/- 21 and that of literature was 38 +/- 17. In combined data set (n = 99), 67 were symptomatic and 32 were asymptomatic. Of the symptomatic, the incidence among men was higher compared with women (45:22). Movement disorders accounted for 55% of the total symptomatic patients. Of the movement disorders, parkinsonism accounted for 57%, chorea 19%, tremor 8%, dystonia 8%, athetosis 5%, and orofacial dyskinesia 3%. Overlap of signs referable to different areas of central nervous system (CNS) was common. Other neurologic manifestations included: cognitive impairment, cerebellar signs, speech disorder, pyramidal signs, psychiatric features, gait disorders, sensory changes, and pain. We measured the total volume of calcification using an Electronic Planimeter and Coordinate Digitizer. Results suggest a significantly greater amount of calcification in symptomatic patients compared to asymptomatic patients. This study suggests that movement disorders are the most common manifestations of BSPDC, and among movement disorders, parkinsonism outnumber others.