Presentation
They presented calcifications in basal ganglia, dentate nucleus, subcortical region and semioval center, due to alteration in calcium metabolism or due to senile relative hypoxemic state. [ncbi.nlm.nih.gov]
On T1 weighted images, low signal is due to the low proton density of calcium and other mineral ions present in higher concentration. However, they might present hyperintense signal, due to proteins and mucopolysaccharides binding the mineral ions. [scielo.br]
Clinically, patients may present with a variety of neurologic and neuropsychiatric features, as well as movement disorders. Methods: A case of Fahr’s syndrome is presented with a concise history, laboratory work-up and imaging studies. [mdsabstracts.org]
Tetany is present, but it is difficult to distinguish from occasional myoclonus of epileptic disorder. Also, spasticity, gait disorder, speech impairment, dementia, parkinsonism, chorea, tremors, dystonia, myoclonus and coma are present. [ojrd.biomedcentral.com]
Entire Body System
- Fatigue
Multiple blood testing was repeated, but no calcium (Ca) or parathormone (PTH) was checked, fatigue progressed. [endocrine-abstracts.org]
Ongoing fatigue, pain, and other annoying sensations can sometimes be troublesome. Fatigue is best handled by pacing activities and providing time for rest when fatigue sets in. [ninds.nih.gov]
Depression : Some or all of the symptoms related to depressive disorder such as hopelessness, sadness, irritability, loss of interest, constant fatigue, difficulty concentrating, sleep disorders, thoughts of death, headache, etc. may appear. [lifepersona.com]
Patients are at an increased falls risk due to impairments in balance, strength and increased fatigue. [physio-pedia.com]
Psychiatrical
- Denial
Moreover, the child could be stigmatized as an adult through denial of health insurance coverage [ Bloch & Hayden 1990, Harper & Clarke 1990 ]. Symptomatic children who are tested usually benefit from having a specific diagnosis established. [canglish1.tripod.com]
Face, Head & Neck
- Mask-like Facies
Neurological presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). [canglish1.tripod.com]
Neurologic
- Dystonia
↑ The Dystonia Society. Generalized dystonia. https://www.dystonia.org.uk/generalised-dystonia (accessed 1 May 2018). ↑ Johnson RK, Goran MI, Ferrara MS, Poehlman ET. Athetosis increases resting metabolic rate in adults with cerebral palsy. [physio-pedia.com]
More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). [ninds.nih.gov]
Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. [mendelian.co]
G24.01 Drug induced subacute dyskinesia G24.02 Drug induced acute dystonia G24.09 Other drug induced dystonia G24.1 Genetic torsion dystonia G24.2 Idiopathic nonfamilial dystonia G24.3 Spasmodic torticollis G24.4 Idiopathic orofacial dystonia Reimbursement [icd10data.com]
- Headache
The patient was female and presented with headache. Her examinations revealed aneurysms on the middle cerebral artery, internal carotid artery and ophthalmic artery. [ncbi.nlm.nih.gov]
Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech), spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing [ninds.nih.gov]
Symptoms are those of neurologic deterioration involving motor control but also include dementia, seizures and headaches. The areas of decreased signal (dark) on this axial T2-weighted MRI image are areas of abnormal calcium deposition. [fineartamerica.com]
Case 2 A 35 year-old patient presented with sudden onset of the worst headache of his life since the previous night. He was brought into the triage because of severe headache associated with multiple episodes of vomiting. [omicsonline.org]
- Postural Instability
The most common characteristics are rest tremor, absence of voluntary movement, muscular rigidity, posture instability, etc. [lifepersona.com]
Improving Postural Instability Instruct patient in correct sitting posture, using appropriate vertical cuing such as lines on the wall, and the clinician exhibiting appropriate upright posture[25] Patients with basal ganglia dysfunction are recommended [physio-pedia.com]
- Slow Speech
This was followed by altered development, including stunted height, altered gait, and slow speech and learning. After the treatment for brain fever and meningitis, the patient had no history of epilepsy or any other health problems. The patient [slideshare.net]
Workup
Laboratory workup showed normal serum parathyroid hormone, calcium, and phosphate. [cambridge.org]
[…] cognitive impairment and cerebellar signs are often seen. [15] Clinical findings are important as clinicians and radiologists may view BSPDC as an incidental finding, but incidental discovery of BSPDC before the age of 50 years merits further diagnostic workup [annalsafrmed.org]
While a full endocrine workup revealed no overt abnormalities, genetic analysis identified a previously reported mutation in the SLC20A2 gene (c.1753 G > A) 3. [nature.com]
Routine hematologic and biochemical investigations, as well as workup for metabolic, inflammatory, and infectious conditions, do not disclose specific abnormalities. [canglish1.tripod.com]
Treatment
Disease is as yet incurable but management and treatment strategies mainly focus on symptomatic relief and eradication of causative factors; however certain evidence is present to suggest that early diagnosis and treatment can reverse the calcification [ncbi.nlm.nih.gov]
With a positive test result, individuals must be prepared for periodic treatment and follow-up. [cureus.com]
Treatment There is no cure for Fahr's Syndrome, nor is there a standard course of treatment. Treatment addresses symptoms on an individual basis. × Treatment There is no cure for Fahr's Syndrome, nor is there a standard course of treatment. [ninds.nih.gov]
There is a need to evolve treatment modalities that prevent loss of neurological function and degeneration. [medindia.net]
Prognosis
Prognosis The prognosis for any individual with Fahr's Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. [ninds.nih.gov]
What is the prognosis? The prognosis for any individual with Fahr's Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. [braincalcification.blogspot.com]
Treatment and Prognosis FS has no cure and does not have a standardized treatment regimen. Current therapies are mainly targeted towards the symptoms and complications associated with the condition. [news-medical.net]
The prognosis is variable and hard to predict. Submitted by Asako Miyakoshi, MD, UW Neuroradiology [rad.washington.edu]
Etiology
CT is an easy exam, has maximum sensitivity and allows diagnosis, contributing to early treatment of many etiologies of Fahr's syndrome. [ncbi.nlm.nih.gov]
Because it involves many etiologies, it is difficult attribute neurological deficits as cause or consequence of Fahr's syndrome. [scielo.br]
Epidemiology
An epidemiological survey conducted in Japan showed that 58% of PHP patients were female[5]. A patient who has a singular sign of AHO while lacks a corresponding biochemical and metabolic abnormality is regarded to have pseudo-PHP[1]. [wjgnet.com]
Article CAS PubMed Google Scholar Trenkwalder C, Schwarz J, Gebhard J, Ruland D, Trenkwalder P, Hense HW, Oertel WH: Starnberg trial on epidemiology of Parkinsonism and hypertension in the elderly. [ojrd.biomedcentral.com]
Revision of literature Epidemiology The frequency of incidental finding of basal ganglia calcification during CT scan raised from an incidence of 0.24–0.75 % during the eighties [ 9, 10, 11, 12 ], until 12.5 % in two thousands [ 13, 14 ]. [link.springer.com]
Epidemiological analyzes associate its incidence to a figure below 1 case per million people worldwide (Saleem et al., 2013). [lifepersona.com]
Starnberg trial on epidemiology of Parkinsonism and hypertension in the elderly. Prevalence of Parkinson's disease and related disorders assessed by a door-to-door survey of inhabitants older than 65 years. [ncbi.nlm.nih.gov]
Pathophysiology
The hypothesis advanced is that the underlying pathophysiology of the separate diseases contributed to the formation of the brain stones through mechanisms of defective iron transport and free radical production. [ncbi.nlm.nih.gov]
Future Perspectives While the current research focus is on pathophysiological mechanisms leading to calcification in brain areas, there is also the need to further explore safe treatment options. [medindia.net]
Pathophysiology and Diagnostic Criteria for FS Heterogeneity in FS has been suggested due to three possible chromosomal loci being identified. [news-medical.net]
His main research interest is in movement disorders, specifically the merging of clinical, electrophysiological and imaging methods to provide insights into the pathophysiology of conditions like dystonia and Parkinson's disease. [books.google.it]
Prevention
Families with a known history of Fahr's disease should be counseled prior to conception so that the birth of affected babies can be prevented. [ncbi.nlm.nih.gov]
Prevention is always better than cure. So the correct time for preventing the risk is before pregnancy. [cureus.com]
Finding these genes could lead to effective ways to treat and prevent Fahr's Syndrome. MORE [braincalcification.blogspot.com]
Note for patients with dystonia, braces may be helpful in preventing contractures. [physio-pedia.com]