Fahr’s syndrome: literature review of current evidence

Abstract

Fahr’s disease or Fahr’s syndrome is a rare, neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex. Calcified deposits are made up of calcium carbonate and calcium phosphate, and are commonly located in the Basal Ganglia, Thalamus, Hippocampus, Cerebral cortex, Cerebellar Subcortical white matter and Dentate Nucleus. Molecular genetics of this disease haven’t been studied extensively; hence evidence at the molecular and genetic level is limited. Fahr’s disease commonly affects young to middle aged adults. Etiology of this syndrome does not identify a specific agent but associations with a number of conditions have been noted; most common of which are endocrine disorders, mitochondrial myopathies, dermatological abnormalities and infectious diseases. Clinical manifestations of this disease incorporate a wide variety of symptoms, ranging from neurological symptoms of extrapyramidal system to neuropsychiatric abnormalities of memory and concentration to movement disorders including Parkinsonism, chorea and tremors amongst others. Diagnostic criteria for this disease has been formulated after modifications from previous evidence and can be stated briefly, it consist of bilateral calcification of basal ganglia, progressive neurologic dysfunction, absence of biochemical abnormalities, absence of an infectious, traumatic or toxic cause and a significant family history. Imaging modalities for the diagnosis include CT, MRI, and plain radiography of skull. Other investigations include blood and urine testing for hematologic and biochemical indices. 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 process leading to complete recovery of mental functions. 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. This review was written with the aim to remark on the current substantial evidence surrounding this disease.

Multiple hormonal resistance and metabolic disorders in pseudogypoparatiosis

“…В ходе обследования была выявлена деком-пенсация по кальций-фосфорному обмену и гипотиреозу: гипокальциемия (Са ион. 0,87 ммоль/л при норме 1,03-1,29), гиперфосфатемия (1,81 ммоль/л при норме 0,74-1,52), повышение уровня ПТГ до 136 пг/мл , гипотиреоз (ТТГ 7,37 мМЕ/л при норме 0,64-5,76, св.Т4 8,72 пмоль/л при норме 11,[5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]4) при нормальном уровне аутоантител (АТ) (АТ к тиреопероксидазе (ТПО) 1,77 МЕ/мл, при норме 0-5,6) и отсутствии эхо-признаков аутоиммунного тиреоидита по данным УЗИ щитовидной железы (рис. 7).…”

A case of brain calcifications in postsurgical hypoparathyroidism

“…The etiology of the sporadic form is not yet known, and different agents can be implicated, such as endocrine disorders, mitochondrial myopathies, dermatological, and infectious diseases. The typical age at the onset of the symptoms is 40-60 years [1][2][3].…”

“…Secondary hypoparathyroidism is generally an iatrogenic condition, occurring as a complication of thyroidectomy [1].…”

“…Nevertheless, calcifications appear with various signal intensities on conventional MRI sequences; therefore, a CT scan is generally the favorite imaging technique for detecting and localizing the extent of intracranial calcifications. Also, in cases of suspected BSPDC with brain calcifications on MRI, a CT scan should be considered for a more accurate diagnosis [1,5].…”

“…In the same way, movement disorders related to parathyroid diseases can be resolved with the correction of calcium and phosphate. Moreover, treatment includes symptomatic support such as levodopa, clonazepam, and atypical antipsychotics to treat extrapyramidal and psychiatric disorders [1,3].…”