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[Benign myoclonic epilepsy -a curious case report]
A B Salgueiro1, R Velázquez-Fragua, A Martínez-Bermejo
1Servicio de Neurología Infantil, Hospital Universitario La Paz, 28046 Madrid, Espana. abbaratasalgueiro@gmail.com
Insights
This case report details an infant with benign myoclonic epilepsy and cranial vault defects, highlighting the importance of accurate diagnosis for optimal psychomotor development outcomes.
Area of Science:
- Pediatric Neurology
- Epileptology
- Clinical Genetics
Background:
- Benign myoclonic epilepsy in infants (BMEI) is a rare generalized epileptic syndrome.
- Recent evidence questions the 'benign' nature of BMEI, especially with delayed treatment, impacting psychomotor development.
- Differential diagnosis is crucial, distinguishing BMEI from severe epileptic conditions and non-epileptic disorders like Lombroso and Fejerman's benign myocloni.
Observation:
- A female infant presented with unspecific bone erosion of the cranial vault and BMEI.
- The patient was monitored from 7 months of age in a pediatric neurology department.
- Congenital cranial vault defects are rare, occasionally isolated or associated with other malformations.
Findings:
- The infant's psychomotor development remained within normal parameters.
- The coexistence of BMEI and cranial vault defects is highly atypical.
- Clinical and electroencephalographic features were unusual, with no apparent link between the two conditions.
Implications:
- This case supports ruling out severe epileptic conditions in similar presentations.
- The atypical presentation underscores the complexity of diagnosing rare pediatric neurological disorders.
- Further research may clarify the relationship, if any, between BMEI and cranial anomalies.
Introduction:
Benign myoclonic epilepsy in infants is a rare condition that belongs to the group of epilepsies and generalised epileptic syndromes. Doubts have recently arisen as to whether it is really benign, with some reports of cases of compromised psychomotor development when therapy is started late. The differential diagnosis can be associated with epileptic and non-epileptic diseases, and it is important to preclude it from the former due to their severity. Lombroso and Fejerman's benign myocloni are the non-epileptic diseases that create most problems as far as the differential diagnosis is concerned. Congenital defects of the cranial vault are quite rare and are sometimes associated with other malformations. Exceptionally they appear in isolation, and familial cases have been reported.
Case Report:
Here we describe the case of a female infant, who had been subject to a follow-up in the Children's Neurology department from the age of 7 months and who had been diagnosed as suffering from unspecific bone erosion of the cranial vault and benign myoclonic epilepsy in infants. Psychomotor development has taken place within the range of parameters that can be considered to be normal and the patient is currently 25 months old.
Conclusions:
From the clinical point of view, in this case we can rule out the most severe epileptic situations. This is a clinical case that is atypical, not only because of the coexistence of two rare diagnoses, but also due to the clinical features and electroencephalographic manifestations. Both situations are very uncommon and there is no apparent relationship between them.
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