Fahr’s Disease: A Rare Neurological Disease Frequently Misdiagnosed as Acute Psychosis, or Mood Disorder

Kumar, Suneel; Sher, Khalid; Ahmed, Saeed; Naik, Savita; Ayub, Shahana; Motiwala, Fatima; Ahmed, Rizwan

doi:10.4172/2329-6895.1000130

Cited by 3 publications

(1 citation statement)

References 5 publications

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“…[ 1 ] We diagnosed the index patient in his third decade of life; however, as the onset of his seizure was 8 years ago, it is possible that the onset of calcifications was in the second decade of his life, which is unusual. The late diagnosis of Fahr syndrome is very common because it is a rare syndrome often misdiagnosed, [ 24 ] especially for the young, as we have experienced. The patient we experienced received a timely diagnosis and appropriate treatment at our hospital due to residing in the relatively well-equipped capital city of Kabul and receiving proper support from his family.…”

Section: Discussionmentioning

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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Section: Discussionmentioning

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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Fahr’s syndrome and idiopathic hypoparathyroidism: A case report

et al. 2017

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Introduction. Fahr?s syndrome is a rare, slowly progressive, neurodegenerative disorder, characterised by extensive, bilateral, and symmetrical basal ganglia calcification. It is associated with neuropsychiatric manifestations and gradually progressive cognitive impairment. Fahr's syndrome is the secondary form of brain calcification that is caused by various metabolic, infectious, or degenerative diseases. Case report. We presented a middle-aged male with Fahr's syndrome due to primary idiopathic hypoparathyroidism. Clinical diagnosis was based on signs and symptoms of hypocalcemia, progressive neuropsychiatric illnesses, laboratory evidence of hypoparathyroidism, and radiological signs of calcifications in the basal ganglia. The patient improved after only a few days of intravenous rehydration and calcium substitution, followed by oral supplemental calcitriol. Conclusion. Timely recognition of idiopathic and iatrogenic hypoparathyroidism allows appropriate treatment that can prevent the development and clinical manifestations of Fahr?s syndrome and potentially slow its progression.

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