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Association of fahr disease with Rhabdomyolysis and hypoparathyroidism

Fahr syndrome is an idiopathic deposition of calcium in the basal ganglia (most commonly in the Globus pallidus) of the brain; other most common sites may include striatum pallidum. It can have a wide variety of presentations like progressive psychosis, dementia, movement disorders, gait disturbances or it can also be asymptomatic. Department of Neuro-medicine Hyderabad admitted this 28 year old male first. And then was referred to us in the department of Neuro-medicine JPMC Karachi. He is a known case of epilepsy for 8 years, who now presented with the complaint of fever, fits, and altered sensorium for 3 days. The CT scan of his brain showed hyperdense areas, bilateral symmetrical extensive basal and cerebral calcifications. CSF examination of the patient showed unremarkable results. On further examinations, it was found he also had Rhabdomyolysis and Hypoparathyroidism. It is unusual to have an association of Fahr syndrome with Rhabdomyolysis and Hypoparathyroidism. Our case report describes the unique behavior of this syndrome. C A S E R E P O R T INTRODUCTION: Fahr syndrome, as the name indicates, was discovered by Fahr in 1930 in a patient 55-year-old who died after a series of tetanic seizures. It is also known as idiopathic calcification of basal ganglia or bilateral striatopallidodentate calcinosis. Because there are calcium deposits in the brain particularly in areas like basal ganglia, cerebellar dentate nuclei, and white matter, with later atrophy. But the process of calcium deposits in basal ganglia only was defined by Delacour in 1850 1-2. It is a rare inherited or sporadic neurological disorder with prevalence of <1/1,000,000 3-5. Fewer than 200 cases have been reported till today. It is more common in men (male: female ratio 2:1) 6. It is further divided into two types: Primary: familial brain calcification, with no any cause other than genetic. It has been reported commonly related to chromosome 14q (IBGC1) while other loci are identified to be on chromosomes 2 nd 8 3-8-9. Secondary: Brain calcification due to any metabolic, infective, autoimmune, and other causes. Besides Fahr syndrome, there is also another condition called Fahr disease. Table 01 shows the diagnostic checklist and difference between the Fahr disease and Fahr syndrome10 Clinical presentation: A person with Fahr syndrome can present in many ways. However initially, it is asymptomatic. But later in life, between 3rd and 6th decade, it can become symptomatic due to any trigger and can present with: • Seizures often with urinary incontinence, • Gait disturbances, • Endocrinopathies, • Psychosis, • Cognitive impairment, • Dementia, • Basal ganglia movement disorders and • Sensory changes etc.