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Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...

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Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine Perspective.

Shijiya Sherin¹, Dhanya Soodhana², Smilu Mohanlal³

¹Department of Pediatrics, Aster Malabar Institute of Medical Sciences, Kozhikode, IND.

|January 6, 2025

Summary

This summary is machine-generated.

Congenital hyperinsulinemia (CHI) can cause recurrent infant hypoglycemia and seizures. Genetic testing identified a GLUD1 mutation in a child with refractory epilepsy, leading to successful diazoxide treatment.

Keywords:

diazoxide epilepsy glud1 hyperinsulinism-hyperammonemia (hi/ha) syndrome neurodevelopmental disorders

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Area of Science:

Pediatric Neurology
Endocrinology
Medical Genetics

Background:

Neonatal hypoglycemia (NH) is a common newborn condition with serious risks.
Congenital hyperinsulinemia (CHI) is a primary cause of recurrent infant hypoglycemia, often due to genetic mutations like GLUD1, leading to hyperinsulinism-hyperammonemia (HI/HA).

Observation:

A 2-year-old girl presented with refractory epilepsy and paroxysmal episodes mimicking various seizure types.
Diagnostic workup revealed hyperinsulinism-hyperammonemia syndrome (HI/HA).

Findings:

Genetic testing identified a heterozygous pathogenic mutation in exon 2 of the GLUD1 gene.
Treatment with diazoxide effectively controlled blood glucose levels and resolved seizure activity.

Implications:

This case highlights the importance of considering metabolic disorders, such as hyperinsulinemic hypoglycemia, in pediatric patients with intractable epilepsy.
Early diagnosis through genetic testing and prompt, targeted therapy are crucial for managing HI/HA and improving seizure control and patient outcomes.