Familial Hypomagnesemia with Secondary Hypocalcemia Mimicking Neurodegenerative Disorder

Area of Science:

• Genetics
• Pediatric Neurology
• Metabolic Disorders

Background:

• Familial hypomagnesemia with secondary hypocalcemia is a rare genetic disorder affecting magnesium metabolism.
• It typically manifests in infancy with severe, treatment-resistant seizures.
• This condition can lead to significant neurological complications if not diagnosed and managed promptly.

Purpose of the Study:

• To report a case of familial hypomagnesemia presenting with medically-refractory seizures and cerebral atrophy.
• To highlight the importance of early diagnosis and appropriate management in preventing severe outcomes.
• To emphasize the role of genetic counseling and timely intervention in families with a history of unexplained infant deaths.

Main Methods:

• Case report of an infant diagnosed with familial hypomagnesemia.
• Neuroimaging was performed, revealing cerebral atrophy.
• Treatment involved oral magnesium supplementation.

Main Results:

• The infant presented with medically-refractory seizures.
• Cerebral atrophy was observed on neuroimaging.
• Seizures were successfully controlled with oral magnesium supplementation.

Conclusions:

• Familial hypomagnesemia should be strongly considered in infants presenting with recurrent or refractory hypocalcemic seizures.
• Early recognition and treatment with magnesium are crucial for managing this condition.
• Accurate diagnosis is vital to prevent mortality and neurological sequelae in affected infants and families.