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Background <p>Brain calcifications are common in older adults; however, in rare cases, they may reveal underlying endocrine or genetic disorders. We present two patients with brain calcifications consistent with Fahr syndrome but with distinct underlying etiologies.</p> Case presentation <p>Case 1 was a 60-year-old woman with a one-year history of seizures and muscle cramps. Case 2 was a 50-year-old man with a history of cocaine abuse who presented with recurrent episodes of loss of consciousness, impulsive behavior, mild dysarthria, gait ataxia, and a first episode of convulsive seizure. In both cases, brain CT demonstrated extensive intracranial calcifications consistent with Fahr syndrome. Further laboratory and imaging evaluation suggested primary hypoparathyroidism in Case 1, primary familial brain calcification (PFBC, previously known as Fahr disease) was suspected in Case 2.</p> Conclusions <p>Adults presenting with brain calcifications and neurological manifestations require a structured diagnostic evaluation as similar radiologic patterns may reflect distinct underlying disorders. Abnormalities in calcium-phosphorus metabolism and endocrine findings supported a metabolic etiology in Case 1, whereas their absence together with suggestive neuroimaging findings favored probable primary familial brain calcification in Case 2. These cases highlight the diagnostic significance of brain calcifications in identifying rare metabolic and genetic disorders and emphasize the importance of basic metabolic evaluation, particularly in resource-limited settings.</p>

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Cerebral calcifications: a common indolent finding or an early clue to rare disease? Two case reports

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月26日

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  • Deving Arias Ramos,
  • Nafer Andrey Guillin Baldion,
  • Scheyla Valentina Hurtado Hurtado,
  • María Camila Narváez Oquendo,
  • Luis Carlos Moreno Cruz

摘要

Background

Brain calcifications are common in older adults; however, in rare cases, they may reveal underlying endocrine or genetic disorders. We present two patients with brain calcifications consistent with Fahr syndrome but with distinct underlying etiologies.

Case presentation

Case 1 was a 60-year-old woman with a one-year history of seizures and muscle cramps. Case 2 was a 50-year-old man with a history of cocaine abuse who presented with recurrent episodes of loss of consciousness, impulsive behavior, mild dysarthria, gait ataxia, and a first episode of convulsive seizure. In both cases, brain CT demonstrated extensive intracranial calcifications consistent with Fahr syndrome. Further laboratory and imaging evaluation suggested primary hypoparathyroidism in Case 1, primary familial brain calcification (PFBC, previously known as Fahr disease) was suspected in Case 2.

Conclusions

Adults presenting with brain calcifications and neurological manifestations require a structured diagnostic evaluation as similar radiologic patterns may reflect distinct underlying disorders. Abnormalities in calcium-phosphorus metabolism and endocrine findings supported a metabolic etiology in Case 1, whereas their absence together with suggestive neuroimaging findings favored probable primary familial brain calcification in Case 2. These cases highlight the diagnostic significance of brain calcifications in identifying rare metabolic and genetic disorders and emphasize the importance of basic metabolic evaluation, particularly in resource-limited settings.