[Benign myoclonic epilepsy -a curious case report].

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.