Endocrine Abstracts

Introduction: Familial hypocalciuric hypercalcemia (FHH) is a rare condition (1–2% of causes for hypercalcemia) and may be confused with primary hyperparathyroidism. Diagnosis of FHH must be suspected in patients with a family history of chronic hypercalcemia, no symptoms and low urinary excretion. This disease is due to mutations in the calcium-sensing receptor (CASR) gene. Meningiomas are common intracranial tumors (15–20% of primary neoplasms of the central nervous system). By contrast, chordoid meningioma is a rare subtype, usually large and located in the supratentorial region.

Case report: 21-year-old male, who underwent an endocrine examination due to mild chronic hypercalcemia. This condition was supposedly known ever since the patient was 7 years old. Physical examination revealed marfanoid habitus and postural asymmetry (compatible with a previously diagnosed scoliosis). After tests results (mild hypercalcemia and hypocalciuria) confirmed the originally suspected diagnosis (FHH), genetic testing showed the presence in heterozygosis of change c.76G>T (p.Ala26Ser) in the CASR gene; a mutation that is not recorded in regular databases. Two years after this diagnosis, the patient returned for consultation due to generalized cephalea over a period of several weeks and bitemporal hemianopsia. Imaging (nuclear magnetic resonance) revealed a 12×12×15 mm solid lesion in the pineal region, significantly enhanced by IV contrast. A left paramedian suboccipital incision was performed on the patient. The results from the subsequent histological analysis and immunohistochemistry tests were compatible with the diagnosis: Grade II chordoid meningioma.

Discussion: FHH and chordoid meningioma are both very rare diseases and very different in nature. While FHH is hereditary, generally asymptomatic and presents low clinical relevance, chordoid meningioma is a sporadic tumor, usually large upon diagnosis and presenting obvious symptoms. Given the combination of both conditions, the described patient is an interesting case for in-depth analysis.