|Year : 2020 | Volume
| Issue : 2 | Page : 155-158
Fahr's disease: Clinicoradiological findings of a rare disease in an adult Nigerian
Ademola Joseph Adekanmi1, Ayotunde Ibrahim Bisi2, Rufus Akinyemi3
1 Department of Radiology, College of Medicine, University of Ibadan, Ibadan, Nigeria
2 Department of Internal Medicine, University College Hospital, Ibadan, Nigeria
3 Department of Internal Medicine, University College Hospital; Neuroscience and Ageing Research Unit, Institute for Advanced Medical Research and Training, College of Medicine, University of Ibadan, Ibadan, Nigeria
|Date of Submission||05-Feb-2020|
|Date of Acceptance||19-Jun-2020|
|Date of Web Publication||24-Sep-2020|
Dr. Ademola Joseph Adekanmi
Department of Radiology, College of Medicine, University of Ibadan, Ibadan
Fahr's disease is a rare genetic or sporadic neurodegenerative disorder characterized by abnormal deposition of calcium in areas of the brain that control movements, including the basal ganglia and cerebral cortex. The continuous development, as well as widespread use of brain imaging, has contributed to the increased detection rates of such cases. We describe a sixty-six-year-old male Nigerian who presented with recurrent loss of consciousness, urinary incontinence, and an incidental radiological finding characteristic of Fahr's disease. This article discusses the clinical features, radiological features, diagnostic criteria, and management of Fahr's disease.
Keywords: Basal ganglia, calcification, Fahr's disease, neurodegenerative
|How to cite this article:|
Adekanmi AJ, Bisi AI, Akinyemi R. Fahr's disease: Clinicoradiological findings of a rare disease in an adult Nigerian. West Afr J Radiol 2020;27:155-8
| Introduction|| |
Fahr's disease, also known as idiopathic basal ganglia calcification, striatopallidodentate calcinosis or calcinosis nucleorum is a rare familial (autosomal dominant) or sporadic neurodegenerative disorder characterized by abnormal deposition of calcium in areas of the brain that control movements including the basal ganglia, thalamus, dentate nucleus, cerebral cortex, cerebellum, subcortical white matter, and hippocampus.,,,
Karl Theodor Fahr, a German pathologist, first described it in 1930.,, It commonly affects young-to-middle-aged adults. There is no identified specific etiology for this disease; however, when associated with several conditions, it is termed Fahr's syndrome. Examples of such conditions include endocrine disorders, mitochondrial myopathies, dermatological abnormalities, and infectious diseases., The clinical manifestations of the disease comprise a wide array of neuropsychiatric symptoms and extrapyramidal disorders. Herein, we present the case of a male patient who presented with recurrent loss of consciousness and urinary incontinence. Laboratory studies revealed normal serum calcium (after correction for hypoalbuminemia) and serum phosphate. The serum parathyroid hormone level was not checked in the course of this illness. Radiological findings revealed extensive bilateral symmetric intracranial calcifications involving the basal ganglia, cerebellum, and left orbit.
| Case Report|| |
The patient was a sixty-six-year-old Nigerian man who presented with loss of consciousness, urinary incontinence, and fast breathing. His wife woke up in the early hours of the morning and observed that he was not responsive. He was last seen normal at about 9 PM the previous night. There was no vomiting, convulsion, or bleeding from the mouth. There was no differential limb weakness and no prior headache, fever, or weight loss. The patient had no history of hypertension or diabetes and was not on any routine medication.
Medical history was significant for two episodes of transient loss of consciousness 3 and 9 months before the present presentation with associated urinary incontinence on one occasion. Each event occurred while seated and lasted 10 min and 45 min, respectively, without any postrecovery behavioral changes or residual deficit. Furthermore, there was a history of bradykinesia for about 5 years and one episode of fall the night preceding the present episode of loss of consciousness, no tremors or rigidity. The patient's spouse and close relative attested that there was no known family member with a similar illness.
On physical examination, the patient was unconscious with a Glasgow Coma Scale (GCS) score of 5, febrile (temperature 38.2°C), and no peripheral edema. The pulse rate was 80 beats/min, with a blood pressure of 120/80 mmHg. Respiratory rate was 24 breaths/min, with vesicular breath sounds and few crepitations, on auscultation. The cardiac examination was unremarkable. Neurologic examination revealed an unconscious man with GCS 5, left corneal opacity (from previous trauma), the right pupil was round, 3 mm, and reactive to light stimulus. There was no conjugate gaze palsy. There was no neck stiffness or meningeal irritation. He had global hypotonia worse on the left and depressed reflexes. The plantar response was flexor bilaterally, but he did not have a coordination test.
Laboratory results revealed hypocalcaemia 8.1 mg/dl (normal: 8.5–10.0 mg/dl), serum calcium corrected for hypoalbuminemia – 9.1 mg/dl, serum phosphate 2.5 mg/dl (normal: 2.5–4.5 mg/dl), and serum parathyroid hormone not done. Electrolyte panel revealed serum sodium 140 mmol/L (normal: 130–145 mmol/L), serum potassium 3.2 mmol/L (normal: 3.5–5.0 mmol/L), serum chloride 103 mmol/L (normal: 95–110 mmol/L), serum bicarbonate 21 mmol/L (normal: 20–30 mmol/L), urea 10 mg/dl (normal: 15–45 mg/dl), and serum creatinine 0.8 mg/dl (normal: 0.5–1.5 mg/dl). Total protein 5.0 mg/dl (normal: 3.6–8.0 mg/dl), albumin 2.7 mg/dL (normal: 3.2–5.7 mg/dl), and uric acid 2.8 mg/dl (normal: 2.0–7.0 mg/dl). Genetic testing was not done as there was no strong suspicion or history of familial autosomal dominant inheritance.
Cranial computed tomography (CT) scan revealed bilateral symmetrical irregular areas of hyperdensities (HU = 113–170) in the region of the caudate nucleus, lentiform nucleus, anterior limbs of the internal capsule, and both cerebellar hemispheres. Overall features were suggestive of bilateral basal ganglia and cerebellar calcifications. There was no evidence of acute intracranial hemorrhage or established territorial infarction [Figure 1].
|Figure 1: Axial computed tomography images of the index case showing diffuse bilaterally symmetrical calcifications in the caudate nucleus, lentiform nucleus, anterior limbs of the internal capsule, and both cerebellar hemispheres|
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Electroencephalography revealed severe diffuse cerebral dysfunction, but there were no epileptiform discharges. The patient had a loading dose of antiepileptic medication (phenytoin); however, there was no remarkable response. He also received parenteral antibiotics. He remains encephalopathic and currently on tube feeding and supportive care. Multiple attempts were done at lumbar puncture but failed. Thus, there was no cerebrospinal fluid analysis.
| Discussion|| |
Fahr's disease is mostly a disease of an unknown etiology, but cases of familial autosomal dominant inheritance have shown some underlying genetic mutations. Fahr's syndrome, a different entity but a mimic of Fahr's disease, is frequently associated with endocrinopathies, such as idiopathic hypoparathyroidism, secondary hypoparathyroidism, pseudohypothyroidism, hyperparathyroidism, or presence of any of the following conditions: Brucellosis More Details infection (intrauterine or perinatal), neuroferritinopathy, tuberous sclerosis, mitochondrial myopathy, or lipoid proteinosis., The genetic mutation described for Fahr's disease is on chromosome 14q and include mutations in genes coding; SLC20A2, PDGFRB, PDGFB and XPR1.,
The presentation of Fahr's disease is usually in the fourth to the sixth decade of life, and our index patient is within this range. Clinical features are vast and majorly neuropsychiatry manifestations. There are specific diagnostic criteria, and imaging modalities of choice include brain CT scan (preferred), magnetic resonance imaging, and plain radiography of the skull.
Clinical features of Fahr's disease
Only a small percentage of patients with Fahr's disease are symptomatic. The disease is often discovered incidentally without any clinical implications. For those who are symptomatic, the most common neurological presentation of Fahr's disease is movement disorders, particularly Parkinsonism More Details. Others include dystonia, chorea, ataxia, and pyramidal signs. Furthermore, headache, seizures, vertigo, stroke-like events, dysarthria, orthostatic hypotension, overactive bladder, and syncope of unknown etiology.,,,
Psychiatric manifestations include cognitive impairment (dementia/delirium), psychosis (hallucination/delusion), catatonia, irritability/aggression, personality disorder/personality change, mood disorder, and anxiety.,,, The index case was symptomatic; particularly, he has previous history of Parkinson-like manifestations. There was also urinary incontinence, suggestive of hyperactive bladder; he also had episodes of syncope, all indicating symptomatic Fahr's disease.
Diagnostic criteria of Fahr's disease stated as follows:,
- Bilateral calcification of the basal ganglia visualized on neuroimaging. Other brain regions could also be involved
- Presence of progressive neurologic dysfunction, which generally includes a movement disorder and/or neuropsychiatric manifestations with the age of onset, typically in the fourth or fifth decade
- Absence of biochemical abnormalities and somatic features suggestive of mitochondrial or metabolic disease or other systemic disorders
- Absence of an infectious, toxic, or traumatic cause and
- A family history that is consistent with autosomal dominant inheritance.
In line with the established diagnostic criteria, there was bilateral basal ganglia calcification on cranial CT, with the involvement of other brain areas: the caudate and lentiform nuclei and both cerebellar hemispheres. Neurological dysfunction was present. The full blood count parameters did not show evidence of infection, and no toxic or traumatic cause was identified. The biochemical parameters were essentially normal in agreement with previous literatures.,
Biochemical and hematological investigations
The goal of biochemical analysis is to rule out a differential diagnosis that may mimic Fahr's disease [Table 1].,
|Table 1: Baseline biochemical investigations to rule out other possible diagnoses|
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Where there is a strong family history of autosomal dominant inheritance, molecular genetic testing is required. It was not done in this case, as the family chart did not show a similar illness in the family.
Management and treatment
Treatment of Fahr's disease is mostly symptomatic and supportive. Examples of symptomatic pharmacological treatment include oxybutynin for urinary incontinence, clonazepam for dystonia, atypical antipsychotics for depression and mood-related symptoms, and antiepileptics for seizures. There is no definitive treatment as yet for the disease. However, management and treatment strategies focus mainly on symptomatic relief.
| Conclusion|| |
This was a symptomatic, sporadic case of Fahr's disease with parkinson-like syndromes and recurrent loss of consciousness in keeping with syncope of unknown etiology with urinary incontinence from an overactive urinary bladder. The brain CT findings were characteristic of Fahr's disease.
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
Conflicts of interest
There are no conflicts of interest.
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