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Early onset bilateral calcifications and epilepsy
M L Nunes1, J C da Costa, M H Severini
1Division of Neurology, Sö Lucas Hospital, Porto Alegre, RS, Brazil.
Insights
This study presents a rare case of bilateral frontal and occipital calcifications in a boy with developmental delay, seizures, and failure to thrive, highlighting an unusual presentation without celiac disease.
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.
Abstract:
Bilateral occipital calcifications associated with epilepsy and sometimes with celiac disease have been described previously. A boy with bilateral frontal and occipital diffuse calcifications accompanied by failure to thrive, nephrogenic diabetes insipidus, developmental delay and seizures, but without celiac disease is presented. Follow-up at 3 years of age disclosed neurodevelopmental delay, height and weight less than expected for age, and seizures controlled with carbamazepine. The uncommon association of these features and the early onset of symptoms is discussed. Although bilateral occipital calcifications share some clinical features with bilateral fronto-occipital calcifications, it is arguable whether the two are on a spectrum of a single disease or represent separate entities.