[Familial congenital hypomagnesemia revealed by neonatal convulsions]

M Ndiaye1, D H Toffa2, A-D Sow2

  • 1Service de neurologie, CHU Fann, BP 5035, Dakar, Sénégal; Hôpital d'enfants Albert-Royer, Sénégal.

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.

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Seizures: Classification01:13

Seizures: Classification

Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
Antiepileptic Drugs: Glutamate Antagonists01:14

Antiepileptic Drugs: Glutamate Antagonists

Glutamate is a fundamental neurotransmitter in the central nervous system, playing a vital role in neuronal communication and various cognitive processes. Glutamate stands as the principal excitatory neurotransmitter in the brain. Its presence is crucial for the communication between neurons, underpinning essential processes such as synaptic transmission, neuronal excitability, and plasticity. These functions are vital for higher-order cognitive processes, including learning and memory. The...
Seizures l: Introduction01:20

Seizures l: Introduction

Understanding seizures and epilepsy relies on key definitions that help in recognizing, classifying, and managing these disorders. These definitions provide a framework for recognizing, classifying, and managing seizure disorders.DefinitionsA seizure is a sudden, abnormal burst of electrical activity in the brain that can cause changes in awareness, movement, sensation, or behavior, depending on the area involved. Epilepsy is a chronic condition characterized by recurrent, unprovoked seizures,...
Seizures ll: Types01:19

Seizures ll: Types

Seizures are sudden bursts of abnormal electrical discharge in the brain that interfere with normal function. They are commonly divided into three groups: focal seizures, generalized seizures, and other types that do not fit neatly into either category.Focal SeizuresFocal seizures begin in a single brain region. When awareness is preserved, they are called focal aware seizures and may cause sensations such as tingling, unusual smells, or flashing lights. When awareness is impaired, they are...