Navigating diagnostic uncertainty in fahr's disease: a case report with neuroimaging correlations

Fahr's disease is a rare neurological disorder which is characterized by the presence of abnormal, symmetrical, and bilateral calcifications within the basal ganglia and other cerebral areas. Seizures are 1 of the symptoms that may aid in its diagnosis. Fahr's disease is diagnosed in adult...

Full description

Saved in:
Bibliographic Details
Main Authors: Devyansh Nimodia, MBBS, Pratapsingh Hanuman Parihar, MD Radiodiagnosis, Sakshi Dudhe, MBBS, Ravishankar Patil, MD Radiodiagnosis, Paritosh N. Bhangale, MBBS, Rishitha Kotla, MBBS
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:Radiology Case Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043324012809
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1846118003445334016
author Devyansh Nimodia, MBBS
Pratapsingh Hanuman Parihar, MD Radiodiagnosis
Sakshi Dudhe, MBBS
Ravishankar Patil, MD Radiodiagnosis
Paritosh N. Bhangale, MBBS
Rishitha Kotla, MBBS
author_facet Devyansh Nimodia, MBBS
Pratapsingh Hanuman Parihar, MD Radiodiagnosis
Sakshi Dudhe, MBBS
Ravishankar Patil, MD Radiodiagnosis
Paritosh N. Bhangale, MBBS
Rishitha Kotla, MBBS
author_sort Devyansh Nimodia, MBBS
collection DOAJ
description Fahr's disease is a rare neurological disorder which is characterized by the presence of abnormal, symmetrical, and bilateral calcifications within the basal ganglia and other cerebral areas. Seizures are 1 of the symptoms that may aid in its diagnosis. Fahr's disease is diagnosed in adults mostly. In this account, we describe the case of a male in his late 20s who was diagnosed with Fahr's disease. The patient experienced multiple seizures and severe headaches for the past 5 months. His medical history was not significant. Upon his admission to the emergency department, imaging studies (Computed Tomography and Magnetic Resonance Imaging) revealed the presence of bilateral and symmetrical calcifications situated within the bilateral corona radiata, bilateral centrum semiovale, bilateral gangliocapsular region, bilateral thalamus and bilateral dentate nucleus. Laboratory investigations ruled out alternative causes for secondary intracranial calcification. Moreover, the patient had no significant familial history. Considering the clinical, biological, and radiological evaluations, the diagnosis was concluded to align with a sporadic form of Fahr's disease.Although seizures are less common symptoms associated with Fahr's disease, the identification of bilateral and symmetrical calcifications in the basal ganglia and other regions on radiological imaging in a patient presenting with seizures should warrant consideration of this neurologic disorder, following the exclusion of other potential causes of intracranial calcification.
format Article
id doaj-art-c47494c236bb4954b5cbcc62e90e8bbb
institution Kabale University
issn 1930-0433
language English
publishDate 2025-02-01
publisher Elsevier
record_format Article
series Radiology Case Reports
spelling doaj-art-c47494c236bb4954b5cbcc62e90e8bbb2024-12-18T08:47:55ZengElsevierRadiology Case Reports1930-04332025-02-0120212521256Navigating diagnostic uncertainty in fahr's disease: a case report with neuroimaging correlationsDevyansh Nimodia, MBBS0Pratapsingh Hanuman Parihar, MD Radiodiagnosis1Sakshi Dudhe, MBBS2Ravishankar Patil, MD Radiodiagnosis3Paritosh N. Bhangale, MBBS4Rishitha Kotla, MBBS5Department of Radiodiagnosis, Datta Meghe Institute of Medical Sciences, Sawangi, Wardha, Maharashtra, India 442001; Corresponding author.Department of Radiodiagnosis, Datta Meghe Institute of Medical Sciences, Sawangi, Wardha, Maharashtra, India 442001Department of Radiodiagnosis, Datta Meghe Institute of Medical Sciences, Sawangi, Wardha, Maharashtra, India 442001Department of Radiodiagnosis, Datta Meghe Institute of Medical Sciences, Sawangi, Wardha, Maharashtra, India 442001Department of Radiodiagnosis, Datta Meghe Institute of Medical Sciences, Sawangi, Wardha, Maharashtra, India 442001Department of Psychiatry, Datta Meghe Institute of Medical Sciences, Sawangi, Wardha, Maharashtra, India 442001Fahr's disease is a rare neurological disorder which is characterized by the presence of abnormal, symmetrical, and bilateral calcifications within the basal ganglia and other cerebral areas. Seizures are 1 of the symptoms that may aid in its diagnosis. Fahr's disease is diagnosed in adults mostly. In this account, we describe the case of a male in his late 20s who was diagnosed with Fahr's disease. The patient experienced multiple seizures and severe headaches for the past 5 months. His medical history was not significant. Upon his admission to the emergency department, imaging studies (Computed Tomography and Magnetic Resonance Imaging) revealed the presence of bilateral and symmetrical calcifications situated within the bilateral corona radiata, bilateral centrum semiovale, bilateral gangliocapsular region, bilateral thalamus and bilateral dentate nucleus. Laboratory investigations ruled out alternative causes for secondary intracranial calcification. Moreover, the patient had no significant familial history. Considering the clinical, biological, and radiological evaluations, the diagnosis was concluded to align with a sporadic form of Fahr's disease.Although seizures are less common symptoms associated with Fahr's disease, the identification of bilateral and symmetrical calcifications in the basal ganglia and other regions on radiological imaging in a patient presenting with seizures should warrant consideration of this neurologic disorder, following the exclusion of other potential causes of intracranial calcification.http://www.sciencedirect.com/science/article/pii/S1930043324012809Basal gangliaCalcificationsFahrs diseaseNeuroimagingSeizures
spellingShingle Devyansh Nimodia, MBBS
Pratapsingh Hanuman Parihar, MD Radiodiagnosis
Sakshi Dudhe, MBBS
Ravishankar Patil, MD Radiodiagnosis
Paritosh N. Bhangale, MBBS
Rishitha Kotla, MBBS
Navigating diagnostic uncertainty in fahr's disease: a case report with neuroimaging correlations
Radiology Case Reports
Basal ganglia
Calcifications
Fahrs disease
Neuroimaging
Seizures
title Navigating diagnostic uncertainty in fahr's disease: a case report with neuroimaging correlations
title_full Navigating diagnostic uncertainty in fahr's disease: a case report with neuroimaging correlations
title_fullStr Navigating diagnostic uncertainty in fahr's disease: a case report with neuroimaging correlations
title_full_unstemmed Navigating diagnostic uncertainty in fahr's disease: a case report with neuroimaging correlations
title_short Navigating diagnostic uncertainty in fahr's disease: a case report with neuroimaging correlations
title_sort navigating diagnostic uncertainty in fahr s disease a case report with neuroimaging correlations
topic Basal ganglia
Calcifications
Fahrs disease
Neuroimaging
Seizures
url http://www.sciencedirect.com/science/article/pii/S1930043324012809
work_keys_str_mv AT devyanshnimodiambbs navigatingdiagnosticuncertaintyinfahrsdiseaseacasereportwithneuroimagingcorrelations
AT pratapsinghhanumanpariharmdradiodiagnosis navigatingdiagnosticuncertaintyinfahrsdiseaseacasereportwithneuroimagingcorrelations
AT sakshidudhembbs navigatingdiagnosticuncertaintyinfahrsdiseaseacasereportwithneuroimagingcorrelations
AT ravishankarpatilmdradiodiagnosis navigatingdiagnosticuncertaintyinfahrsdiseaseacasereportwithneuroimagingcorrelations
AT paritoshnbhangalembbs navigatingdiagnosticuncertaintyinfahrsdiseaseacasereportwithneuroimagingcorrelations
AT rishithakotlambbs navigatingdiagnosticuncertaintyinfahrsdiseaseacasereportwithneuroimagingcorrelations