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Familial hypomagnesemia--hypercalciuria and pseudotumor cerebri

A Gregoric1, K Bracic, N Marcun-Varda

  • 1Department of Pediatrics, Maribor Teaching Hospital, Maribor, Slovenia. pediatrija.mb@sb-mb.si

Wiener Klinische Wochenschrift
|October 27, 2004
PubMed

Insights

Familial hypomagnesemia-hypercalciuria can lead to serious complications. A child developed cerebral pseudotumor after thiazide treatment, suggesting a link between hypomagnesemia and intracranial pressure.

Area of Science:

  • Pediatric Nephrology
  • Neurology
  • Medical Genetics

Background:

  • Familial hypomagnesemia-hypercalciuria (FHH) is a rare genetic disorder characterized by renal wasting of magnesium and calcium.
  • Key features include hypomagnesemia, hypercalciuria, renal insufficiency, and nephrocalcinosis.
  • Treatment typically involves magnesium supplementation, thiazide diuretics, and potassium.

Observation:

  • An 8-year-old girl with FHH presented with cardinal symptoms including hypomagnesemia, hypercalciuria, and renal insufficiency.
  • She received combination therapy including magnesium salts, a thiazide diuretic, and potassium supplementation.
  • After four years of treatment, she developed cerebral pseudotumor (idiopathic intracranial hypertension) with papilledema and visual field defects.

Findings:

  • The cerebral pseudotumor resolved after discontinuation of the thiazide diuretic.
  • Researchers hypothesize that prolonged thiazide-induced hypomagnesemia led to severe hypocalcemia, contributing to the pseudotumor.
  • This is the first reported case of pseudotumor cerebri in a child with FHH secondary to thiazide therapy.

Implications:

  • This case highlights a potential, previously unrecognized adverse effect of thiazide diuretics in patients with FHH.
  • It underscores the importance of monitoring calcium and magnesium levels during long-term thiazide therapy, especially in pediatric patients with renal disorders.
  • Further research is needed to elucidate the precise mechanism linking hypomagnesemia, hypocalcemia, and pseudotumor cerebri in this context.

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