FAHR'S SYNDROME IN A PATIENT WITH PSEUDOHYPOPARATHYROIDISM – AN INTERESTING CASE REPORT

2021 ◽  
pp. 14-15
Author(s):  
Aniket Bhattacharjee ◽  
Santosh Kumar Swain
Keyword(s):  
Cerebral Cortex ◽  
Case Report ◽  
Basal Ganglia ◽  
Neurodegenerative Disease ◽  
Movement Disorders ◽  
Interesting Case ◽  
Fahr’S Syndrome ◽  
Clinical Presentations ◽  
The Brain

Fahr's Syndrome is a rare neurodegenerative disease which is characterized by bilaterally symmetrical calcications in various parts of the brain such as the basal ganglia, cerebellum, thalamus, cerebral cortex etc. It can have a wide variety of clinical presentations ranging from, dementia, parkinsonism, movement disorders etc. It can be primary/idiopathic or secondary to other causes mainly endocrinopathies. Here we describe an interesting case of a 78 years old man who presented with dementia and tremors and was later diagnosed as fahr's syndrome which was secondary to pseudohypoparathyroidism.

Disorders of movement

2018 ◽  
Author(s):  
Cris S. Constantinescu ◽  
Fahd Baig
Keyword(s):  
Cerebral Cortex ◽  
Basal Ganglia ◽  
Movement Disorders ◽  
Neural Pathways ◽  
Subcortical Structures ◽  
Clinical Presentations

The neural pathways that control movement involve several structures, from the cerebral cortex through to the muscle. This allows for the maintenance of tone, posture, and volitional movement. Disruption of subcortical structures which modulate these pathways (such as the basal ganglia) can cause a variety of clinical presentations collectively termed movement disorders. They can be simply divided into hypokinetic disorders (e.g. parkinsonism) and hyperkinetic disorders.

Neuropsychiatric Symptoms in Fahr's Syndrome

2017 ◽  
Vol 41 (S1) ◽  
pp. S634-S634
Author(s):  
A. Lopes ◽  
R. Trindade ◽  
A. Barcelos
Keyword(s):  
Cognitive Impairment ◽  
Basal Ganglia ◽  
Mood Disorders ◽  
Movement Disorders ◽  
Neuropsychiatric Symptoms ◽  
Obsessive Compulsive ◽  
Fahr’S Syndrome ◽  
Personality Dysfunction ◽  
Competing Interest ◽  
Clinical Pictures

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.

scholarly journals A rare variation of hydranencephaly: case report

F1000Research ◽  
2012 ◽  
Vol 1 ◽  
pp. 22
Author(s):  
Buddhika TB Wijerathne ◽  
Geetha K Rathnayake ◽  
Sisira K Ranaraja
Keyword(s):  
Computed Tomography ◽  
Cerebral Cortex ◽  
Case Report ◽  
Basal Ganglia ◽  
Posterior Fossa ◽  
Cerebral Hemisphere ◽  
Optimal Conditions ◽  
Third Trimester ◽  
Ultrasonographic Diagnosis ◽  
Obstetric Management

Hydranencephaly is a rare severe abnormality characterized by replacement of cerebral hemisphere with fluid covered by leptomeninges such that absent cerebral cortex. We present the Ultrasonographic diagnosis of a case of fetal Hydranencephaly at 38 weeks of gestation. Sonography revealed the absence of cerebral cortex, thalami and basal ganglia with disrupted falx and preserved posterior fossa structures. This was the first reported case of Hydranencephaly with absence thalami and basal ganglia along with midbrain. Confirmation of diagnosis was made with postnatal computed tomography. Even though it was diagnosed in the late third trimester, it allowed prompt and finest obstetric management which reduced the risk for both fetus and mother. Furthermore it allowed arrangement of optimal conditions for birth at a unit with accessible specialized pediatric facilities.

scholarly journals Idiopathic hypoparathyroidism induced fahr’s syndrome

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.

scholarly journals Neurodegeneration with cerebral iron accumulation: a case report

2021 ◽  
Author(s):  
Monalisa Moura Saito ◽  
Dhyego Ferreira Moreira de Lacerda ◽  
Ana Claudia Marque Gouveia de Melo ◽  
Lucas Monteiro Barros Nunes ◽  
Luana Cristina Rodrigues de Oliveira Costa ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Disease ◽  
Movement Disorders ◽  
Retinal Dystrophy ◽  
Rapid Onset ◽  
Clinical Findings ◽  
Iron Accumulation ◽  
Significant Clinical Improvement ◽  
The Brain

Introduction: NBIA is a rare disease, with a prevalence of 1/1,000,000.It is characterized by abnormal iron accumulation. Clinical findings may include progressive extrapyramidal disorders, involvement of the pyramidal, peripheral, autonomic nervous systems, superior cortical, visual and cerebellar functions. The diagnosis is made through the association of clinical findings and complementary exams. Currently, the treatment is only symptomatic, with no specific therapy. Case report: 5-year-old female, reporting involuntary movements and difficulty walking a day ago. Presented agitation and delayed neuropsychomotor development, seen since 1 year of age. On examination, dysarthria, dystonia and parkinsonian stiffness were observed. MRI of the brain showed the radiological signal “tiger’s eye” and the ophthalmological evaluation showed retinal dystrophy. Positive acanthocyte screening. NBIA’s NGS panel confirmed the diagnosis. Triexfenid was started and there was an improvement in movement disorders. In outpatient follow-up, the symptoms worsened. Levodopa was associated with the return of walking without support and ability to pick up objects. Discussion: In this case, Triexafenid 2mg/day was initially prescribed, with a slight improvement in movement disorders. Levodopa was started with the aim of improving symptoms of parkinsonian stiffness. The excellent response to the association of the drug in low doses stands out, enabling ambulation and functionality for daily activities. Conclusion: NBIA is a rare disease, with rapid onset and progression. Studies show limited benefits of levodopa in the case of PKAN. We emphasize significant clinical improvement, with a return to walking after administration of the drug.

Subcortical structures: the cerebellum, basal ganglia, and thalamus

2010 ◽  
pp. 4871-4879
Author(s):  
Mark J. Edwards ◽  
Penelope Talelli
Keyword(s):  
Spinal Cord ◽  
Nervous System ◽  
Basal Ganglia ◽  
Movement Disorders ◽  
Subcortical Structures ◽  
Video Material ◽  
The Brain ◽  
Relay Stations

For video material relating to movement disorders, please go to Movement Disorders Videos. Less is known of the function of the cerebellum, thalamus and basal ganglia than of other structures in the brain, but there is an increasing appreciation of their complex role in motor and nonmotor functions of the entire nervous system. These structures exercise functions that far exceed their previously assumed supporting parts as simple ‘relay stations’ between cortex and spinal cord....

Subcortical structures: The cerebellum, basal ganglia, and thalamus

2020 ◽  
pp. 5937-5945
Author(s):  
Mark J. Edwards ◽  
Penelope Talelli
Keyword(s):  
Spinal Cord ◽  
Nervous System ◽  
Cerebral Cortex ◽  
Basal Ganglia ◽  
Feedback Loops ◽  
Sense Organs ◽  
Subcortical Structures ◽  
Stretch Receptors ◽  
The Brain ◽  
Relay Stations

Less is known of the function of the cerebellum, thalamus, and basal ganglia than of other structures in the brain, but there is an increasing appreciation of their complex role in motor and non-motor functions of the entire nervous system. These structures exercise functions that far exceed their previously assumed supporting parts as simple ‘relay stations’ between cortex and spinal cord. The subcortical structures receive massive different inputs from the cerebral cortex and peripheral sense organs and stretch receptors. Through recurrent feedback loops this information is integrated and shaped to provide output which contributes to scaling, sequencing, and timing of movement, as well as learning and automatization of motor and non-motor behaviours.

scholarly journals Fahr’s syndrome and idiopathic hypoparathyroidism: A case report

2017 ◽  
Vol 74 (2) ◽  
pp. 184-188 ◽  
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.

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

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

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

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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