Fahr’s syndrome presenting as focal seizures in an adolescent: a case report

Jaskirat Kaur Sandhu; Varun Kaul; Kirat Kaur Sandhu

doi:10.18203/2349-3291.ijcp20242744

Authors

Jaskirat Kaur Sandhu Department of Paediatrics, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, India
Varun Kaul Department of Paediatrics, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, India
Kirat Kaur Sandhu DD Eye Institute and Lasik Laser Center, Kota, Rajasthan, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20242744

Keywords:

Fahr’s syndrome, Basal ganglia calcification, Movement disorders, Hypocalcemia

Abstract

Fahr’s syndrome refers to a rare syndrome which is characterized by symmetrical and extensive intra-cranial calcification. It mostly presents in age group 30-40 years or in older adults, although few cases have also been reported in paediatrics. The usual presentation is in the form of movement disorders, cognitive impairment, neuro-psychiatric manifestations etc. Here we report a case of a 14-year-old adolescent male who came to us with complaints of chronic headache and recurrent episodes of focal seizures. His cranial radio-imaging revealed bilateral basal ganglia calcification. On metabolic workup, he was found to have hypocalcemia and secondary hyperparathyroidism, thus confirming the diagnosis of Fahr’s syndrome.

Metrics

Metrics Loading ...

References

Fahr T: Idiopathische verkalkung der hirngefässe. Zentrabl Allg Pathol. 1930;50:129-33.

Manyam BV, Walters AS, Narla KR: Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Movement disorders: J Move Disor Soc. 2001;16(2):258-64.

Ellie E, Julien J, Ferrer X: Familial idiopathic striopallidodentate calcifications. Neurology. 1989;39(3):381-5.

Saleem S., Aslam H. M., Anwar M. et al. Fhr’s syndrome: literature review of current evidence. Orphanet J Rare Dis. 2013;8:156.

Billard C, Dulac O, Boulouche J, Echenne B, Lebon P, et al. Encephalopathy with calcifications of the basal ganglia in children: a reappraisal of Fahr’s syndrome with respect to 14 new cases. Neuropediatrics. 1989;20(1):12-9.

Zhang Y, Guo X, Wu A: Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification. PloS one. 2013;8(2):57060.

Yamada N, Hayashi T: Asymptomatic familial basal ganglia calcification with autosomal dominant inheritance: a family report. No to hattatsu Brain and development. 2000;32(6):515-9.

Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido M-J, Quintáns B, Baquero M: Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nature genetics. 2012;44(3):254-6.

Silva RJ, Pereira IC, Oliveira JR: Analysis of Gene Expression Pattern and Neuroanatomical Correlates for SLC20A2 (PiT-2) Shows a Molecular Network with Potential Impact in Idiopathic Basal Ganglia Calcification (“Fahr’s Disease”). J of Molec Neuro: MN. 2013;50(2):280-3.

Chiu H, Lam L, Shum P, Li K: Idiopathic calcification of the basal ganglia. Postgraduate medical journal. 1993;69(807):68-70.

Manyam BV, Walters AS, Narla KR. Bilateral striopallido dentate calcinosis: clinical characteristics of patients seen in a registry. Mov Disord. 2001;16(2):258-64.

Niwa AY Naito S, Kuzuhara. Severe cerebral calcification in a case of LEOPARD syndrome. Intern Med. 2008;47(21):1925-9.

Rastogi R, Singh AK, Rastogi UC, Chander Mohan C, Vaibhav Rastogi V. Fahr’s syndrome: a rare clinic-radiologic entity. Med J Armed Forces India. 2011;67(2):159-61.