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Published on: June 11, 2020
[Familial congenital hypomagnesemia revealed by neonatal convulsions]
Insights
Congenital hypomagnesemia, a rare genetic disorder, can cause neonatal seizures and developmental delays. Supplementation may not fully correct low magnesium levels, leading to cognitive impairments.
Area of Science:
- Pediatric Neurology
- Genetics
- Metabolic Disorders
Background:
- Congenital hypomagnesemia is a rare genetic disorder.
- It significantly impacts cognitive and neurological development.
Observation:
- Three familial cases (two boys, one girl) from a consanguineous family presented with neonatal seizures and psychomotor delay.
- Neuroimaging revealed cerebral atrophy and calcifications in one patient, and cerebellar atrophy in two others.
- All patients exhibited hypocalcemia, hyperphosphatemia, and hypomagnesemia, with altered parathyroid hormone levels.
Findings:
- Calcium and magnesium supplementation normalized calcium and phosphate levels but not magnesium levels, despite high doses.
- Two patients developed cognitive and behavioral impairments.
- One infant patient died at 7 months of age.
Implications:
- This case series highlights the severe neurological consequences of congenital hypomagnesemia.
- Management challenges include persistent hypomagnesemia and long-term cognitive deficits.
- Further research into the genetic basis and therapeutic strategies for congenital hypomagnesemia is warranted.
Abstract:
Congenital hypomagnesemia is a rare disease, with an impact on cognitive and neurological development. We report on three familial cases of congenital hypomagnesemia, two boys and one girl who belong to the same consanguineous family. They all presented neonatal seizures and a psychomotor developmental delay. Cerebral computed tomography showed cerebral atrophy and calcifications in one case and magnetic resonance imaging found predominant cerebellar atrophy in the two other cases. All three patients also had hypocalcemia, hyperphosphoremia, and hypomagnesemia. The parathyroid hormone blood level was low in two cases and normal in the third. One 7-month old patient died. The others received a supplementation of calcium and magnesium, which normalized calcemia, phosphatemia but not magnesemia, which remained low despite high doses. They have both developed cognitive and behavioral impairments.
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