Encephalopathy with Calcifications of the Basal Ganglia in Children - A Reappraisal of Fahr's Syndrome with Respect to 14 New Cases

Objectives and methodologyTo review the neuropsychiatric symptoms of Fahr's syndrome.Results/discussionFahr's Syndrome is a rare degenerative neuropsychiatric condition, characterized by bilateral and symmetrical calcifications of the basal ganglia. It can be associated with several metabolic, infectious or genetic conditions. It is clinically manifested by movement disorders, psychosis, cognitive impairment, mood disorders, personality dysfunction or obsessive-compulsive spectrum disturbances. First presentation can be psychiatric in approximately 40% of the cases. Cognitive dysfunction, mood disorders and psychosis are the most common presentations. In the present case, depression, dementia and movement disorders were the main clinical pictures. This report alerts for the significance of neuropsychiatric symptoms within this diagnosis, considering the multisystemic approach of the illness.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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Idiopathic hypoparathyroidism induced fahr’s syndrome

Journal of Clinical Images and Medical Case Reports ◽

10.52768/2766-7820/1162 ◽

2021 ◽

Vol 2 (3) ◽

Author(s):

Ryan Stuart ◽

◽

Harold Duarte ◽

Zachary Gilbert ◽

Damian Valencia ◽

...

Keyword(s):

Quality Of Life ◽

Cerebral Cortex ◽

Basal Ganglia ◽

Early Diagnosis ◽

Motor Function ◽

Neurological Disorder ◽

Calcium Deposition ◽

Improve Quality ◽

Fahr’S Syndrome

Fahr’s Syndrome (FS) is a rare neurological disorder of abnormal calcium deposition. FS is most notably characterized by deterioration of motor function, neuropsychiatric impairment and seizures. These symptoms are primarily due to calcification of the basal ganglia and cerebral cortex. Although there are currently no curative therapies, treatments are available which can significantly improve quality of life, making early diagnosis and identification of etiology essential. Hypoparathyroidism with intracranial calcification is extremely rare clinically. Here we present a case of idiopathic hypoparathyroidism induced Fahr’s syndrome with classic symptomatology, imaging of examination findings and extensive cerebral calcifications. Keywords: Fahr’s Syndrome; idiopathic hypoparathyroidism.

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A case of Fahr's syndrome with rare atypical presentation as hemiplegia

Journal of Health and Allied Sciences NU ◽

10.1055/s-0040-1703939 ◽

2015 ◽

Vol 05 (04) ◽

pp. 077-079

Author(s):

Venkata Ravikumar Chepuri ◽

Himabindu Panta

Keyword(s):

Parathyroid Hormone ◽

Basal Ganglia ◽

Family History ◽

Psychiatric Symptoms ◽

Neuropsychiatric Symptoms ◽

Atypical Presentation ◽

Radiological Findings ◽

Basal Ganglia Calcification ◽

Negative Family History ◽

Fahr’S Syndrome

AbstractCalcification of basal ganglia or Fahr's disease is a rare disease characterized by bilateral and symmetrical intracranial deposition of calcium mainly in cerebral basal ganglia. Basal ganglia calcification secondary to endocrinological cause is known as Fahr's syndrome. Motor and neuropsychiatric symptoms are prominent features. We report a case presented with hemiplegia without any psychiatric symptoms. Radiological findings were suggestive of bilateral calcification of cerebellar hemispheres and basal ganglia. Parathyroid hormone levels were low with no significant findings in other investigations along with negative family history. Based on the radiological and biochemical findings the case was diagnosed as fahr's syndrome.

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Correction to: Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features

Neurological Sciences ◽

10.1007/s10072-019-04037-5 ◽

2019 ◽

Vol 40 (11) ◽

pp. 2265-2265

Author(s):

Giulia Donzuso ◽

Giovanni Mostile ◽

Alessandra Nicoletti ◽

Mario Zappia

Keyword(s):

Basal Ganglia ◽

Clinical Features ◽

Fahr’S Syndrome

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Coreia Aguda Generalizada, Distonia e Calcificações Cerebrais: A Propósito de um Caso Clínico

Acta Médica Portuguesa ◽

10.20344/amp.11026 ◽

2019 ◽

Vol 32 (5) ◽

pp. 402 ◽

Cited By ~ 1

Author(s):

Joana Ramos-Lopes ◽

Ana Brás ◽

Ana Morgadinho ◽

Fradique Moreira

Keyword(s):

Basal Ganglia ◽

Clinical Case ◽

Emergency Service ◽

Computed Tomography Scan ◽

Basal Ganglia Calcification ◽

Fahr’S Syndrome ◽

Syndrome Diagnosis ◽

History Of ◽

Basal Ganglia Involvement ◽

Tomography Scan

Pathological basal ganglia calcification, or Fahr’s Syndrome, can be secondary to a variety of diseases, namely parathyroid disturbances. Movement disorders are common clinical features, in which chorea is seen in less than 20% of cases and dystonia just in 8%. We report the clinical case of a 49-year-old male with a history of thyroidectomy, who was admitted in Emergency Service with acute generalized chorea and focal painful feet dystonia. Laboratory analysis showed hypocalcemia and rhabdomyolysis, and computed tomography scan revealed parenchymal calcification with basal ganglia involvement. After complementary studies we established a Fahr’s Syndrome diagnosis secondary to an iatrogenic hypoparathyroidism. Clinical management has been successful with stabilized calcium levels, with no more neurologic symptoms. Hypocalcemia should be readily investigated and treated after a thyroidectomy, given the irreversibility of intracerebral calcifications and potential neurological or systemic consequences.

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Fahr’s syndrome and idiopathic hypoparathyroidism: A case report

Vojnosanitetski pregled ◽

10.2298/vsp150916109m ◽

2017 ◽

Vol 74 (2) ◽

pp. 184-188 ◽

Cited By ~ 1

Author(s):

Dejan Marinkovic ◽

Tamara Dragovic ◽

Sasa Kikovic ◽

Snezana Kuzmic-Jankovic ◽

Zorana Djuran ◽

...

Keyword(s):

Case Report ◽

Basal Ganglia ◽

Neurodegenerative Disorder ◽

Clinical Manifestations ◽

Signs And Symptoms ◽

Intravenous Rehydration ◽

Fahr’S Syndrome ◽

Appropriate Treatment ◽

Brain Calcification ◽

Neuropsychiatric Manifestations

Introduction. Fahr?s syndrome is a rare, slowly progressive, neurodegenerative disorder, characterised by extensive, bilateral, and symmetrical basal ganglia calcification. It is associated with neuropsychiatric manifestations and gradually progressive cognitive impairment. Fahr's syndrome is the secondary form of brain calcification that is caused by various metabolic, infectious, or degenerative diseases. Case report. We presented a middle-aged male with Fahr's syndrome due to primary idiopathic hypoparathyroidism. Clinical diagnosis was based on signs and symptoms of hypocalcemia, progressive neuropsychiatric illnesses, laboratory evidence of hypoparathyroidism, and radiological signs of calcifications in the basal ganglia. The patient improved after only a few days of intravenous rehydration and calcium substitution, followed by oral supplemental calcitriol. Conclusion. Timely recognition of idiopathic and iatrogenic hypoparathyroidism allows appropriate treatment that can prevent the development and clinical manifestations of Fahr?s syndrome and potentially slow its progression.

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Findings of Fahr’s Syndrome in A Patient Suspected With Subarachnoid Hemorrhage: An Evidence-Based Case Report

SCRIPTA SCORE Scientific Medical Journal ◽

10.32734/scripta.v1i2.1244 ◽

2019 ◽

Vol 1 (2) ◽

pp. 8

Author(s):

Gilbert Sterling Octavius ◽

Theo Audi Yanto ◽

Nicholas Gabriel H.R. ◽

Eka Julianta Wahjoepramono ◽

Harsan

Keyword(s):

Computed Tomography ◽

Differential Diagnosis ◽

Case Report ◽

Parathyroid Hormone ◽

Basal Ganglia ◽

Psychiatric Symptoms ◽

Evidence Based ◽

Head Ct ◽

Fahr’S Syndrome ◽

Chief Complaints

ABSTRACT Fahr’s syndrome is an entity where there is symmetrical bilateral calcification of basal ganglia with parkinsonian and psychiatric symptoms. However, due to its rarity, clinicians tend not to include Fahr’s syndrome in their differential diagnosis. This article aims to raise awareness about the diagnosis of Fahr’s Syndrome through its unique presentation in this patient. Data was obtained primarily and secondarily. In this case, a 32 years old male was referred to our clinic with chief complaints of headache since a week prior and a seizure 5 days ago. A head CT and a CT angiography (CTA) of the circulus willisi were done and a bilateral and symmetrical calcification of the corona radiata, basal ganglia, thalamus, and nucleus dentatus were found. There is also hypocalcemia and low Parathyroid Hormone (PTH). Fahr’s Syndrome may manifest unusually and hence clinicians have to be aware of diagnosing this entity. Keywords: Fahr’s Disease, Fahr’s Syndrome ABSTRAK Sindroma Fahr’s merupakan sebuah penyakit yang ditandai dengan kalsifikasi bilateral sietris dari basal ganglia dengan gejala psikatri dan parkinsonisme. Namun, akibat jarangnya ditemukan penyakit ini, klinisi cenderung tidak memikirkan sindroma Fahr’s sebagai salah satu diagnosis banding. Artikel ini bertujuan untuk meningkatkan kewaspadaan terhadap diagnosis Sindroma Fahr’s melalui presentasi unik pada pasien ini. Data diambil secara primer dan sekunder. Pada kasus ini, seorang laki-laki berusia 32 tahun dirujuk dengan keluhan utama sakit kepala sejak satu minggu dan kejang 5 hari sebelum masuk rumah sakit. Computed Tomography (CT) scan kepala dan Computed Tomography Angiography (CTA) dari sirkulus willisi dilakukan dan ditemukan adanya kalsifikasi bilateral simetris pada korona radiata, basal ganglia, talamus dan nukleus dentatus. Pada pemeriksaan laboratorium ditemukan adanya hipokalsemia dan hormon paratiroid (PTH) yang rendah. Sindroma Fahr’s dapat datang dengan presentasi yang tidak khas sehingga para klinisi harus lebih tajam dalam mendiagnosis kasus ini. Kata kunci: Penyakit Fahr’s, Sindroma Fahr’s

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Fahr’s syndrome as a differential diagnosis amid parkinsonian syndromes: a case report

10.5327/1516-3180.465 ◽

2021 ◽

Author(s):

Luana de Rezende Mikael ◽

Coralia Gabrielle Vieira Silveira ◽

Camilla Duarte Ribeiro ◽

Daniel Damiani ◽

Pedro Henrique de Lara Leite ◽

...

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Basal Ganglia ◽

Underlying Disease ◽

Lower Limbs ◽

Parkinsonian Syndrome ◽

Parkinsonian Syndromes ◽

Fahr’S Syndrome ◽

Atypical Presentations ◽

The Right

Context: Parkinsonian syndromes are routinely identified by neurologists. However, the differential diagnosis among probable etiologies can be challenging and complex. In Fahr’s syndrome, calcifications of the basal ganglia secondary to disorders of calcium metabolism are observed. A possible clinical presentation associated with this entity is the presence of a parkinsonian syndrome. Case report: A 54-years-old female patient presented with a progressive tremor in the right upper and lower limbs associated with bradykinesia. Seizures were observed during the course of the disease. After extensive clinical workup, primary hypoparathyroidism was diagnosticated along with the recognition of a mutation in the calcium activator gene. Computed tomography and magnetic resonance imaging of the head showed bilateral coarse calcifications in thalami and basal ganglia compatible with Fahr’s syndrome. We began treatment for control of the underlying disease, as well as for symptomatic control of parkinsonism. Conclusions: Different pathologies could justify the parkinsonian syndrome observed initially in the case described. Among them: Iidiopathic Parkinson’s Disease, Multiple System Atrophy, Progressive Supranuclear Palsy. In our patient, the atypical evolution in a young woman led to the research of possible secondary treatable causes. A diagnosis of Fahr’s syndrome related to hypoparathyroidism was unveiled. The differential diagnosis of Parkinson’s Syndrome is broad and difficult. We must be aware of the possible atypical presentations due to the possibility of a secondary condition whose etiology could be effectively treated.

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