Case of neurological manifestations of Fahr's syndrome

The article contains a description of the clinical observation of a patient with Fahr’s syndrome. A review of the literature on this rare neurodegenerative disease, Fahr’s disease, and Fahr’s syndrome is presented. An observation of a 54-year-old patient Sh. with Fahr’s syndrome is presented. The authors of the article set themselves the goal of drawing attention to Fahr’s syndrome, which is the sphere of interests of doctors of various specialties. Raising the awareness of doctors about this disease will contribute to its timely diagnosis and treatment.

Is Fahr’s disease a saviour for intracranial hypertensive bleeds? - A review

Fahr’s disease (FD) is a rare disorder characterised by abnormal deposition of calcium in different parts of brain especially in basal ganglia, thalamus and dentate nucleus. Association of FD with ischemic stroke has been described in past but very less literature available showing association of FD with haemorrhagic stroke. We present here a case of 70 years old hypertensive male patient suffering from FD with left thalamic acute haemorrhage. Although basal ganglia is a common site for hypertensive bleed, but in this hypertensive patient, basal ganglia was spared. We assume that this could be due to presence of calcification within vessel walls of basal ganglia that strengthen the walls and hence act as a saviour for basal ganglia bleed in this case.

Fahr’s disease with an initial presentation of crescendo TIA

A 51-year-old man presented with vertigo, slurred speech and left facial droop. He had been previously diagnosed with transient ischaemic attack (TIA) and had a prior lacunar infarct. Imaging showed heavy symmetrical calcification in the globus pallidus, frontal white matter and cerebellar dentate nuclei/deep white matter. The imaging was pathognomonic for Fahr’s disease and diagnosis was confirmed when other secondary causes of hypercalcemia were excluded. Fahr’s disease is a rare, autosomal dominant, neurological condition characterised by primary brain calcification. Patients present with progressive neurological and psychiatric symptoms; commonly, Parkinsonian movement disorders, seizures, headaches, dysarthria, cognitive decline, psychosis and personality changes. There is an association with intracerebral ischaemic events. This case supports a growing body of anecdotal evidence of this association and is the first in which crescendo TIA may be the initial presentation of Fahr’s disease. Referral for genetic counselling and symptomatic relief for neurological symptoms are the main management strategies.

Deletion of Mea6 in Cerebellar Granule Cells Impairs Synaptic Development and Motor Performance

The cerebellum is conceptualized as a processor of complex movements. Many diseases with gene-targeted mutations, including Fahr’s disease associated with the loss-of-function mutation of meningioma expressed antigen 6 (Mea6), exhibit cerebellar malformations, and abnormal motor behaviors. We previously reported that the defects in cerebellar development and motor performance of Nestin-Cre;Mea6F/Fmice are severer than those of Purkinje cell-targeted pCP2-Cre;Mea6F/Fmice, suggesting that Mea6 acts on other types of cerebellar cells. Hence, we investigated the function of Mea6 in cerebellar granule cells. We found that mutant mice with the specific deletion ofMea6in granule cells displayed abnormal posture, balance, and motor learning, as indicated in footprint, head inclination, balanced beam, and rotarod tests. We further showed that Math1-Cre;Mea6F/Fmice exhibited disrupted migration of granule cell progenitors and damaged parallel fiber-Purkinje cell synapses, which may be related to impaired intracellular transport of vesicular glutamate transporter 1 and brain-derived neurotrophic factor. The present findings extend our previous work and may help to better understand the pathogenesis of Fahr’s disease.

Idiopathic basal ganglia calcification (Fahr’s disease) in a 9-year-old Nigerian child

Fahr’s disease is a rare neurodegenerative disorder characterized by deposition of calcium on the walls of blood vessels of the Basal ganglia and Dentate nuclei of the Cerebellum. Patient can present with diverse array of symptoms including but not limited to seizure, extrapyramidal symptoms and mental retardation. We report a case of a 9-year-old female child with history of recurrent seizure. Brain CT showed symmetrical calcification in the basal ganglia.