Primary hypoparathyroidism as a seizure trigger in type 1 glutaric aciduria

Area of Science:

• Pediatric Neurology
• Clinical Genetics
• Neonatal Medicine

Background:

• Infantile seizures can stem from diverse etiologies, including metabolic derangements.
• Persistent upward gaze and prolonged postictal phases are concerning neurological signs in infants.
• Macrocephaly and global developmental delay indicate significant underlying pathology.

Purpose of the Study:

• To report a rare case of infantile seizures associated with concurrent hypoparathyroidism and glutaric aciduria type 1 (GA1).
• To highlight the importance of investigating metabolic causes in infants presenting with neurological symptoms.
• To illustrate the diagnostic challenges and management strategies for complex neonatal metabolic disorders.

Main Methods:

• Clinical presentation and examination findings of a female infant with recurrent seizures.
• Laboratory investigations including ionised calcium levels and genetic analysis for GA1.
• Neuroimaging (brain MRI) to assess structural brain abnormalities.

Main Results:

• Profound hypocalcaemia (0.6 mmol/L) attributed to primary hypoparathyroidism was identified.
• Brain MRI revealed an acute subdural haematoma with a 'bat-wing' configuration and bilateral diffusion restriction.
• Genetic analysis confirmed glutaric aciduria type 1 (GA1).

Conclusions:

• Metabolic disorders, specifically hypocalcaemia secondary to hypoparathyroidism, should be considered in the differential diagnosis of infantile seizures.
• Concurrent GA1 and hypoparathyroidism presented with severe neurological manifestations including seizures and subdural haematoma.
• Multidisciplinary management involving metabolic correction, antiepileptic therapy, and dietary adjustments is crucial for stabilizing patients.