Early onset bilateral calcifications and epilepsy

Area of Science:

• Neurology
• Pediatrics
• Radiology

Background:

• Bilateral occipital calcifications are known to be associated with epilepsy and occasionally celiac disease.
• Previous literature primarily describes occipital calcifications, with limited information on diffuse fronto-occipital involvement.

Observation:

• A pediatric case is presented with diffuse bilateral frontal and occipital calcifications.
• The patient exhibited failure to thrive, nephrogenic diabetes insipidus, developmental delay, and seizures.
• Notably, the patient did not have celiac disease, distinguishing it from previously reported cases.

Findings:

• Follow-up at three years confirmed persistent neurodevelopmental delay, growth parameters below age expectations, and seizure control with carbamazepine.
• The early onset and unique constellation of symptoms in this case are discussed.
• The calcifications were described as diffuse and bilateral, involving both frontal and occipital lobes.

Implications:

• This case expands the clinical spectrum of conditions associated with bilateral fronto-occipital calcifications.
• It raises questions about whether bilateral occipital and fronto-occipital calcifications represent a single disease spectrum or distinct entities.
• Further research is needed to clarify the etiology and classification of these rare calcification patterns.