CT Diagnosis of Fahr disease, a case report

Глигориевски, Антонио

doi:10.15761/ccrr.1000393

Cited by 6 publications

(3 citation statements)

References 16 publications

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“…The pathophysiological mechanism of the condition remains unknown. The brain CT scan is the radiological examination of choice [11,13]. It reveals symmetrical calcifications of the putamen, globus pallidus, caudate nuclei, dentate nuclei of the cerebellum, or thalami.…”

Section: Discussionmentioning

confidence: 99%

Fahr’s Disease Presenting with Non-febrile Epileptic Seizures: Case Report and Systematic Literature Review

Radi,

Sarpong,

Laarej

et al. 2024

Asian J. Pediatr. Res.

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Fahr's disease is a very rare condition characterized by abnormal, symmetrical, and bilateral deposits of calcifications in the basal ganglia without an identifiable cause. Fahr's disease must be differentiated from Fahr's syndrome, which is also a rare anatomo-clinical entity, characterized by the presence of intracerebral calcifications located in the basal ganglia, most often associated with phosphocalcic metabolism disorders, primarily hypoparathyroidism. While Fahr's syndrome involves secondary intracerebral calcifications,Fahr's disease is primary or idiopathic with autosomal dominant or recessive inheritance. There are sporadic and familial forms. The clinical presentations of Fahr's disease vary and can include confusion syndromes, cognitive disorders, cerebellar syndrome, abnormal movements, psychiatric syndrome, or epilepsy. Seizures are very rare clinical presentation of Fahr’s disease. There are also asymptomatic forms. We report the case of a 13-year-old boy with Fahr's disease revealed by a non-febrile epileptic seizure. The patient’s brother has similar epileptic manifestations. The medical history, clinical, biological and radiological findings were supportive of a familial form of Fahr’s disease.

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Section: Discussionmentioning

confidence: 99%

Fahr’s Disease Presenting with Non-febrile Epileptic Seizures: Case Report and Systematic Literature Review

Radi,

Sarpong,

Laarej

et al. 2024

Asian J. Pediatr. Res.

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“…[4][5][6] Fahr syndrome generally appears between the ages of 40 and 60, and its diagnosis is based on clinical manifestations, neuroimaging, and exclusion of primary causes. [3,7] Brain computed tomography (CT) is considered the gold-standard diagnostic technique, with calcified areas appearing as hyperdense lesions on unenhanced brain CT scans. [8] Common symptoms include motor and psychiatric disorders, with psychiatric symptoms present in 40% of patients and seizures being among the rarest manifestations.…”

Section: Introductionmentioning

confidence: 99%

From seizures to cognitive dysfunction: A case report of Fahr syndrome in an Afghan patient

Madadi,

Alami,

Kaneda

et al. 2024

Medicine

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Rationale: Fahr syndrome is a rare, degenerative neurological condition characterized by bilateral idiopathic calcification of the periventricular region, especially the basal ganglia. This condition is often misdiagnosed as other neurological or psychiatric disorders due to its rarity and overlapping symptoms. Patient concerns: A 34-year-old man had been experiencing seizures and cognitive dysfunction for few years, which were further compounded by slurred speech and motor difficulties as acute conditions. Diagnosis: After investigations, severe hypocalcemia, and hypoparathyroidism were detected and his brain computed tomography showed extensive bilateral calcifications in basal ganglia, thalamus, dentate nuclei, and some parts of subcortical white matter, suggestive of Fahr syndrome. Although, the patient was initially misdiagnosed due to a lack of information and the rarity of this disease. Intervention: The patient was treated with intravenous calcium gluconate, vitamin D3, l-ornithine l-aspartate syrup, and levetiracetam, replacing carbamazepine. Outcome: His symptoms, including slurred speech, muscle pain, and stiffness improved, serum calcium normalized, and he was discharged with medications for memory deficit and depression. Lessons: This case underscores the importance of raising awareness among physicians, especially in areas with limited medical resources, about the significance of prompt diagnosis and appropriate symptomatic treatment in enhancing patient prognosis and quality of life.

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“…1,2 The general prevalence is less than 1:1 000 000 and is uncommon in systemic lupus erythematosus (SLE) patients. 3 This condition is often asymptomatic and usually discovered in brain imaging, but this can impact a patient's cognitive functions. 4 Here, we present a SLE patient with brain calcifications in basal ganglia,indicating a Fahr's syndrome.…”

Section: Introductionmentioning

confidence: 99%

Fahr’s syndrome in teenage girls with systemic lupus erythematosus: A case report

Prasetya

Sumadiono

2020

JKKI

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Fahr's disease or Fahr's syndrome is a condition characterized by intracranial calcifications especially in basal ganglia and dentate nuclei. They are a rare condition with a broad range of manifestations from asymptomatic condition to severe neurological and psychiatry signs and symptoms. The aim of this report to present Fahr's syndrome as an alternative diagnosis of neuropsychiatry symptoms in systemic lupus erythematosus (SLE) patients. We present a 17-year-old teenage girl who have had a preexisting diagnosis of SLE and have been on remission. The patient recently had experienced headache, auditory hallucination and memory loss despite having a low activity score of SLE and no laboratory relapse. Head CT scan showed bilateral basal ganglia calcifications suggesting a Fahr's disease. Clinical outcome in this condition might vary but might worsen neurocognitive functions. Sindrom Fahr adalah kondisi yang ditandai dengan kalsifikasi intrakranial terutama ganglia basalis dan nukleus dentata. Sindrom Fahr adalah penyakit yang jarang ditemui dengan manifestasi beragam mulai dari asimtomatik hingga tanda dan gejala neuropsikiatri yang berat. Laporan kasus ini bertujuan untuk menyajikan penyakit Fahr sebagai salah satu kemungkinan penyebab gejala neuropsikiatri pada kasus lupus eritematosus sistemik (LES).Pada laporan kasus ini, pasien merupakan seorang remaja perempuan berusia 17 tahun dengan diagnosis LES dan telah dinyatakan remisi. Pasien mengalami gejala baru berupa sakit kepala, halusinasi auditorik, dan gangguan memori meskipun skor aktivitas penyakit dan temuan laboratorium dalam batas normal. Pasien didiagnosis sebagai penyakit Fahr berdasarkan gejala neuropsikiatri dan adanya kalsifikasi ganglia basalis pada CT scan kepala. Luaran klinis penyakit Fahr sangat beragam tetapi dapat mengganggu fungsi neurokognitif pasien di kemudian hari.

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CT Diagnosis of Fahr disease, a case report

Cited by 6 publications

References 16 publications

Fahr’s Disease Presenting with Non-febrile Epileptic Seizures: Case Report and Systematic Literature Review

Fahr’s Disease Presenting with Non-febrile Epileptic Seizures: Case Report and Systematic Literature Review

From seizures to cognitive dysfunction: A case report of Fahr syndrome in an Afghan patient

Fahr’s syndrome in teenage girls with systemic lupus erythematosus: A case report

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