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CASE REPORT
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A rare case of Fahr's syndrome with bilateral vocal cord palsy


 Department of Otorhinolaryngology, K. S. Hegde Medical Academy, Nitte (Deemed to be University), Deralakatte, Mangalore, Karnataka, India

Date of Submission23-Mar-2020
Date of Decision08-May-2020
Date of Acceptance03-Jul-2020

Correspondence Address:
Vadisha Srinivas Bhat,
K S Hegde Medical Academy, Nitte (Deemed to be University), Deralakatte, Mangalore - 575 018, Karnataka
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mjdrdypu.mjdrdypu_106_20

  Abstract 


Fahr's syndrome is a rare neurodegenerative condition characterized by the deposition of calcium in various parts of the brain, mostly the basal ganglia. Fahr's disease is an idiopathic condition, whereas Fahr's syndrome is secondary to systemic conditions, including endocrine and autoimmune causes. Hypoparathyroidism is an important cause of this condition. Clinical features of Fahr's syndrome depend on the site of involvement and are usually neurological.

Keywords: Bilateral vocal cord palsy, Fahr's syndrome, hypoparathyroidism, Kashima operation, stridor, thyroidectomy



How to cite this URL:
Goutham M K, Varghese S, Bhat VS, Aroor R, Kumar Bhandary B S. A rare case of Fahr's syndrome with bilateral vocal cord palsy. Med J DY Patil Vidyapeeth [Epub ahead of print] [cited 2021 Mar 5]. Available from: https://www.mjdrdypv.org/preprintarticle.asp?id=308992




  Introduction Top


Fahr's syndrome is a degenerative neurological condition characterized by the abnormal deposition of calcium in some areas of the brain, including the basal ganglia and cerebral cortex.[1] It is a rare condition with a prevalence of one in a million population.[2] It mostly affects individuals in the third and fifth decades of their life.[3] It can be familial, sporadic, or secondary to endocrine disorders, genetic conditions, neurodegenerative conditions, infections, or can be even idiopathic.[2] Some autoimmune diseases have also been attributed to the development of this condition.[4] This central nervous system calcification could be due to the metabolic calcium disorder, metastatic deposits, or secondary to local deposits of the blood–brain barrier. Clinical features of Fahr's syndrome depend on the site of deposition of calcium. It may remain asymptomatic or present with neurological/neuropsychiatric manifestations.[3] The presentation to an otorhinolaryngologist is usually rare. Here, we present a case of Fahr's syndrome, which was secondary to hypoparathyroidism following thyroidectomy, who presented with stridor due to bilateral vocal cord paralysis.


  Case Report Top


A 54-year-old female presented with history of breathlessness for 3 months and stridor for 5 days. The patient had undergone total thyroidectomy 30 years ago, following which she developed intermittent breathlessness that has aggravated for 3 months. She had a history of seizure episodes 2 years back and is on medication for the same. On examination, she had biphasic stridor. Video laryngoscopy showed both vocal cords in the paramedian position. The patient was on thyroxine supplementation, and her thyroid function test was within the normal limits. She underwent emergency tracheostomy for stridor, followed by laser-assisted posterior cordectomy (Kashima operation). The patient tolerated the procedure well, and the postoperative period was uneventful. The patient was discharged from the hospital with a double-lumen tracheostomy tube and advised follow-up after 1 month for decannulation.

One month later, when she came for decannulation, she gave a history of headache and an episode of seizure, however since the seizure was there for only a few seconds, they did not report any doctor for the same. Neurological evaluation was done, which did not show any focal neurological abnormality. The electroencephalogram was normal. In view of the seizure episode despite having antiepileptic medications, she underwent magnetic resonance imaging (MRI) scan of the brain, which showed hypointense blooming on SW1 images and hyperintensities in T1-weighted images [Figure 1] and [Figure 2]. Further evaluation was done with computed tomography (CT) scan, which showed calcifications at the basal ganglia, dentate nucleus, and centrum semiovale calcifications [Figure 3], [Figure 4], [Figure 5].
Figure 1: Magnetic resonance imaging of the brain: hypointense blooming on SW1

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Figure 2: Magnetic resonance imaging of the brain: Hypointense blooming at the basal ganglia

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Figure 3: Computed tomography scan of the brain – calcifications at the basal ganglia

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Figure 4: Computed tomography scan of the brain – calcifications at the centrum semiovale

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Figure 5: Computed tomography scan of the brain – calcifications at the dentate nucleus

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Estimation of serum electrolytes, thyroid hormones, and parathyroid hormones was done for evaluation of the cause. The serum calcium level was low (5.7 mg/dl), whereas other electrolytes were within normal limits. Her parathyroid hormone levels were low (1.9 pg/ml), the normal reference range being 12–88 pg/ml. Thyroid hormones and thyroid-stimulating hormone were within the normal limits. The diagnosis of Fahr's syndrome secondary to hypoparathyroidism following total thyroidectomy was made.

Endocrinologist opinion was sought in view of hypoparathyroidism and hypocalcemia and was advised calcitriol and thyroxine hormone supplementation. Neurologists recommended continuing antiepileptic medication, levetiracetam, for seizure episodes.

Tracheostomy was closed after she tolerated the trial of closure. The patient was discharged with advice to review periodically. There are no new symptoms in the 6-month follow-up period.


  Discussion Top


Fahr's syndrome is a rare neurodegenerative condition that was first described by German neurologist Karl Theodor Fahr, in 1930.[3] It is a rare condition seen in one in a million population. It is characterized by calcified deposits that are made up of calcium carbonate and calcium phosphate in various sites of the brain, such as the basal ganglia, thalamus, hippocampus, cerebral cortex, cerebellar subcortical white matter, and dentate nucleus.[2] Deposits of mineral compounds such as glyconate, mucopolysaccharide, and metals including iron, copper, magnesium, zinc, aluminum, silver, and cobalt may also be found.[2]

Fahr's syndrome can be secondary to endocrine disorders, neurodegenerative conditions, congenital disorder, infectious conditions, or idiopathic. Endocrine diseases such as idiopathic hypoparathyroidism, pseudohypoparathyroidism, and hyperparathyroidism are among the leading causes of Fahr's syndrome. Idiopathic hypoparathyroidism is a rare condition characterized by the atrophy of the parathyroid glands, whereas pseudohypoparathyroidism is the condition where there is resistance to parathyroid hormone. Secondary hypoparathyroidism, on the other hand, is hypoparathyroidism secondary to accidental removal of parathyroid glands, mostly following total thyroidectomy. Reduction in blood parathormone levels will result in hypophosphatemia and hypocalcemia.[5],[6] Disturbance of Vitamin D homeostasis is another vital cause for Fahr's syndrome.[2] Accumulation of iron in the brain can result in a condition, neurodegeneration with brain iron accumulation diseases or neuroferritinopathy, a variant of the former can present with progressive dystonia basal ganglia calcification, dysarthria, rigidity, and pigmentary retinopathy.[7] Some inherited conditions such as cockayne syndrome types I and II also have intracranial calcifications. Some other conditions such as tuberous sclerosis complex,  Brucellosis More Details, Coats disease, intrauterine infections, and perinatal infections are among the other reported etiological factors.[2]

Fahr's syndrome can be asymptomatic, but it can present with a wide range of symptoms, which includes neurological symptoms such as loss of consciousness, tetany, seizures, gait disorders, spasticity, speech impairment, dementia, coma, myoclonus, paroxysmal choreoathetosis, dystonic choreoathetosis, and papilledema of intracranial hypertension. It can also present as movement disorders such as clumsiness, fatigability, unsteady gait, involuntary movements, and muscle cramping or sometimes with neuropsychiatric features such as psychosis, depression, apoplexia, deterioration of intelligence, and inability to make decisions.[8],[9],[10]

Our patient had a history of seizure disorders, for which she was on antiepileptic medication, but the seizure disorder may be due to the calcification itself. Furthermore, our patient had breathlessness and stridor due to bilateral vocal cord paralysis, probably following total thyroidectomy. Both the hypoparathyroidism and vocal cord paralysis may be surgical complications of total thyroidectomy.

Diagnosis of Fahr's syndrome is mainly by CT that shows features of bilaterally symmetrical calcifications in the basal ganglia, thalamic nuclei, putamen, and cerebellar dentate nuclei.[3] MRI imaging shows T1 and T2 hyperintensities in the basal ganglia, thalamus, and cerebellar hemispheres.[11] In our patient, MRI was done initially as an evaluation for a seizure disorder, but later, CT scan was done to confirm calcifications. Blood investigations for parathormone, thyroid function tests, serum electrolytes, serum calcium, calcitonin, and alkaline phosphatase levels might also prove useful in evaluating the cause.

There is no specific treatment for this condition; however, the management of this condition is limited to symptomatic management.[12] The underlying endocrine abnormalities are identified and corrected. Chelators with antioxidants, calcium antagonists, are also experimented in managing the disease. Our patient had hypoparathyroidism and hypocalcemia, which were managed with appropriate medications. She was on medication for seizure disorders and hypothyroidism, which were continued. She also had breathlessness secondary to bilateral vocal cord paralysis, which was treated by tracheostomy, followed by laser-assisted posterior cordectomy (Kashima operation).[13]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Ahad MA, Kamal SM, Salma U. Fahr's syndrome: A rare neurodegenerative disorder. Med Today 2017;29:39-41.  Back to cited text no. 1
    
2.
Saleem S, Aslam HM, Anwar M, Anwar S, Saleem M, Saleem A, et al. Fahr's syndrome: Literature review of current evidence. Orphanet J Rare Dis 2013;8:156.  Back to cited text no. 2
    
3.
Gligorievski A. CT diagnosis of Fahr's disease, a case report. Clin Case Rep Rev 2018;4:1-3.  Back to cited text no. 3
    
4.
Randhawa J, Onyshchenko M, Mbuvah F, Bagai R. A Rare association of Fahr's disease with an autoimmune triad. J Neuropsychiatry Clin Neurosci 2014;26:E14-8.  Back to cited text no. 4
    
5.
Bruyn GW, Bots GT, Staal A. Familial bilateral vascular calcification in the central nervous system. Psychiatr Neurol Neurochir 1964;67:342-76.  Back to cited text no. 5
    
6.
Zisimopoulou V, Siatouni A, Tsoukalos G, Tavernarakis A, Gatzonis S. Extensive bilateral intracranial calcifications: A case of iatrogenic hypoparathyroidism. Case Rep Med 2013;2013:932184.  Back to cited text no. 6
    
7.
Sobrido MJ, Coppola G, Oliveira J, Hopfer S, Geschwind DH. Primary familial brain calcification. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, et al., editors. GeneReviews™. Seattle (WA): University of Washington 2004. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1421. [Last updated on 2013 Jun 27].  Back to cited text no. 7
    
8.
König P, Haller R. Results of a study of a family with aggregated occurrence of bilateral symmetrical basal ganglia calcinosis. Eur Arch Psychiatry Neurol Sci 1985;234:325-34.  Back to cited text no. 8
    
9.
Larsen TA, Dunn HG, Jan JE, Calne DB. Dystonia and calcification of the basal ganglia. Neurology 1985;35:533-7.  Back to cited text no. 9
    
10.
Ellie E, Julien J, Ferrer X. Familial Idiopathic straiopallidodendate calcifications. Neurology 1989;39:381-5.  Back to cited text no. 10
    
11.
Imaging in Fahr's disease: How CT and MRI differ? Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847590/. [Last accessed on 2020 Mar 22].  Back to cited text no. 11
    
12.
Savino E, Soavi C, Capatti E, Borrelli M, Vigna GB, Passaro A, et al. Bilateral strio-pallido-dentate calcinosis (Fahr's disease): Report of seven cases and revision of literature. BMC Neurol 2016;16:165.  Back to cited text no. 12
    
13.
Dennis DP, Kashima H. Carbon dioxide laser posterior cordectomy for treatment of bilateral vocal cord paralysis. Ann Otol Rhinol Laryngol 1989;98:930-4.  Back to cited text no. 13
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

 
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