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

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

2015 ◽  
Vol 05 (04) ◽  
pp. 077-079
Author(s):  
Venkata Ravikumar Chepuri ◽  
Himabindu Panta

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.


2021 ◽  
Author(s):  
Luana de Rezende Mikael ◽  
Coralia Gabrielle Vieira Silveira ◽  
Camilla Duarte Ribeiro ◽  
Daniel Damiani ◽  
Pedro Henrique de Lara Leite ◽  
...  

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.


2021 ◽  
Vol 8 (5) ◽  
pp. 719
Author(s):  
Gursimran Singh Nayyar ◽  
Ashish Behera ◽  
Tejinder Pal Singh Grewal

Since December 2019, the outbreak of the novel corona virus has impacted nearly >60 million peoples in more than 150 countries. In this case report, we aim to define the chest computed tomography findings of 2019-novel corona virus associated with pneumonia. A 47-year-old female patient, who is known case of hypertension and diabetes, presented with chief complaints of fever and shortness of breath since, two days. Chest computed tomography was performed and showed bilateral multifocal ground glass opacities with consolidation which suggested viral pneumonia as a differential diagnosis, and subsequent 2019-novel corona virus pneumonia nucleic acid test was positive.


2021 ◽  
Author(s):  
Ana Karoline da Costa Monteiro ◽  
Paulo Filho Soares Marcelino ◽  
Marcello Holanda de Andrade ◽  
Rairis Barbosa Nascimento ◽  
Marx Lincoln Lima de Barros Araújo ◽  
...  

Context: Fahr’s syndrome is a clinical entity of primary or secondary causes characterized by neurological and/or psychiatric symptoms associated with abnormal calcifications in basal ganglia, cerebellum and cerebral cortex. Case report: G.M.A, female, 49 years-old, presented athetosis in the distal extremity of the right upper limb (RUL) in December 2020, without seeking for medical help. Known to be diabetic, hypertensive and with diastolic heart failure (HF), in February 2021 she presented decompensated HF associated with worsening of involuntary movements in the RUL. During investigation, abnormalities in serum levels of parathormone (PTH) and calcium were observed, in addition to bilateral calcifications in basal ganglia and thalamus in brain computed tomography (CT) without contrast. In March 2021, she was admitted to the University Hospital of the Federal University of Piauí, with maintenance of athetosis at the distal extremity of the RUL, in addition to oromandibular dyskinesia. Laboratory profile compatible with primary hypoparathyroidism and new brain CT without contrast with calcifications in basal ganglia and pulvinar of the thalamus, bilaterally, were confirmed. Intravenous calcium replacement and use of calcitriol were performed, with partial clinical improvement. Conclusions: Fahr’s syndrome is characterized by the presence of movement disorders (with highlights for parkinsonism and athetosis) and psychiatric symptoms (depression most commonly). Possible etiologies are primary (genetic) and secondary (mainly idiopathic or secondary hypoparathyroidism). Classic finding of symmetrical calcifications in base nuclei is seen on brain CT. Treatment is symptomatic and control of the underlying disease.


Biomedicine ◽  
2021 ◽  
Vol 40 (4) ◽  
pp. 557-559
Author(s):  
Archana Rajasundaram ◽  
Nitya Waghray ◽  
W.M.S. Johnson

Calcification of basal ganglia is known as FAHR’s syndrome or FAHR’s disease.  It’s a rare phenomenon which generally affects the young to middle aged adults. A 39-year-old female was sent to the radiology department of Sree Balaji Medical College, Chennai for computed tomography (CT) as she had a fall and injured her forehead. An axial plain CT scan without contrast was advised and performed. The CT study revealed mild frontal peri cranial swelling and calcification of dentate nucleus, basal ganglia, central semiovale and frontoparietal subcortical white matter was observed. On examination, however patient did not present with any other movement disorders.


Author(s):  
Tivya Kulasegaran ◽  
Pranav Kumar

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]


Author(s):  
Nadeem Jimidar ◽  
Patrick Lauwers ◽  
Emmanuela Govaerts ◽  
Marc Claeys

Abstract Background Hamman’s sign is a rare phenomenon. Louis Hamman described this pathognomonic clicking chest noise in association with pneumomediastinum in 1937. This typical noise can also be present in left-sided pneumothorax. Clinical cases already mention this pericardial knock in 1918 in gunshot wounds of the left chest and in 1928 in cases of spontaneous left-sided pneumothorax. However, the sound itself has only rarely been recorded. Case summary We describe a case of a young man with no significant medical history who was referred to the hospital with chest pain and audible clicks, documented with his smartphone. Imaging studies including chest radiograph and computed tomography scan revealed a left-sided pneumothorax. The patient underwent semi-urgent insertion of a thorax drain. His clinical outcome was excellent. Discussion In recent years only a few case reports describe Hamman’s sign, as it is rare and happens only transiently. This case report includes the audible clicks recorded by the patient with his smartphone. We stress the importance of thoracic clicking sounds as key symptom in the differential diagnosis of left-sided pneumothorax, pneumomediastinum, and valvular pathology such as mitral valve prolapse.


2019 ◽  
Vol 7 (1) ◽  
Author(s):  
Sofia O. Correia ◽  
Daniel Pereira ◽  
José Miguel Maia ◽  
Ana Sofia Cipriano ◽  
Maria Manuela França ◽  
...  

We report a case of a 22-year-old man with persistent cough and sarcoidosis-like changes in computed tomography scan. An extensive differential diagnosis is discussed and its evolution and treatment is presented.


2016 ◽  
Vol 33 (S1) ◽  
pp. S393-S393 ◽  
Author(s):  
D.K. Ochoa García ◽  
G.M. Chauca Chauca ◽  
L. Carrión Expósito

IntroductionIt is well known that seizures and psychosis are diagnostic criteria for systemic lupus erythematosus (SLE), however, there could be many other neuropsychiatric symptoms. The American College of Rheumatology Nomenclature provides case definitions for 19 neuropsychiatric syndromes seen in SLE (NPSLE), including cognitive impairment, psychosis, mood and anxiety disorders. Lack of specific manifestations difficult diagnosis and treatment.ObjectivesTo address the diagnostic difficulties that involve the appearance of hypomanic symptoms in the course of SLE treated with high doses of corticoids in a patient with a depressive episode history.MethodDescription of case report and literature revision. We report the case of a 22-year-old woman who presented irritable mood, sexual disinhibition, insomnia and inflated self-esteem. The patient was recently diagnosed with SLE and was on treatment with 50 mg/d prednisone. She had familiar history for bipolar disorder and was taking 20 mg/d paroxetine since the last 6 months after being diagnosed with major depressive episode.ResultsWe proposed differential diagnosis between psychiatric symptoms secondary to central nervous system SLE involvement, a comorbid bipolar disorder or prednisone-induced mood symptoms. Fluctuation of hypomanic symptoms during hospitalization, poor relationship with variation in corticosteroid doses, findings on brain MRI compatible with vasculitis and positive antibodies, oriented this case to a neuropsychiatric manifestation of LES.ConclusionsWe should keep in mind that symptoms of neuropsychiatric SLE may vary from more established manifestations of NPSLE to mild diffuses ones. More studies are needed to expand knowledge in the relationship between mood disorders and neuropsychiatric SLE.Disclosure of interestThe authors have not supplied their declaration of competing interest.


F1000Research ◽  
2012 ◽  
Vol 1 ◽  
pp. 22
Author(s):  
Buddhika TB Wijerathne ◽  
Geetha K Rathnayake ◽  
Sisira K Ranaraja

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.


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