Fahr’s Syndrome and Pseudohypoparathyroidism- A rare clinical entity

Richmond Ronald Gomes,Moin Shahid

doi:10.4038/sjdem.v10i2.7421

Abstract

Physiological intracranial calcification occurs in about 0.3-1.5% of cases. It is asymptomatic and detected incidentally by neuroimaging. Pathological basal ganglia calcification is due to various causes, such as: metabolic disorders, infectious and genetic diseases. Hypoparathyroidism and pseudohypoparathyroidism are the one of the causes of pathological basal ganglia calcification. Besides tetany and seizures this condition is presented by parkinsonism and dementia. Infections (toxoplasmosis, rubella, cytomegalovirus, cysticercosis, AIDS) give multiple and asymmetric intracranial calcification. Inherited and neurodegenerative diseases cause symmetrical, bilateral basal ganglia calcification which is not related to metabolic disorders. Fahr’ssyndrome is a rare entity characterized by the presence of bilateral intracranial calcifications with predilection for the basal ganglia and dentate nuclei. It is commonly associated with endocrine disorders, particularly parathyroid and Vitamin D disturbances. Herein we report a case of pseudohypoparathyroidism revealed by Fahr’s disease.

Highlights

Fahr’s syndrome is a rare, degenerative, and neuropsychiatric disorder characterized by seizures, extrapyramidal, and neuropsychiatric symptoms as a result of symmetric and bilateral calcifications of the nucleus pallidus, the putamen, the dentate nucleus of the cerebellum and the hemispheric white matter at the base of the skull1(2)
The term Fahr’s disease is used when primary familial brain calcification is present, and the term Fahr’s syndrome is used for secondary causes [6]. It is an inherited or sporadic neurological disorder with a prevalence of
She was diagnosed with striatopallidodentatecalcinosis secondary to hypocalcaemia due to Pseudohypoparathyroidism (PHP)

Summary

Introduction

Fahr’s syndrome is a rare, degenerative, and neuropsychiatric disorder characterized by seizures, extrapyramidal, and neuropsychiatric symptoms as a result of symmetric and bilateral calcifications of the nucleus pallidus, the putamen, the dentate nucleus of the cerebellum (striato-pallido-dentate calcinosis) and the hemispheric white matter at the base of the skull1(2). The term Fahr’s disease is used when primary familial brain calcification is present, and the term Fahr’s syndrome is used for secondary causes [6] It is an inherited or sporadic neurological disorder with a prevalence of

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