A PECULIAR CLINICAL PROFILE OF SYMPTOMATIC EYELID MYOCLONUS AND ATONIC SEIZURES IN EARLY CHILDHOOD: A CASE REPORT
A PECULIAR CLINICAL PROFILE OF SYMPTOMATIC EYELID MYOCLONUS AND ATONIC SEIZURES IN EARLY CHILDHOOD: A CASE REPORT

Summary/Abstract: Nowadays the development of technology in all spheres of science results in expanded and precise diagnostic possibilities in pediatric neurology. The holistic progression leads to establishing an exact diagnosis from the wide spectrum of differential diagnoses presented with symptoms which are not pathognomonic. As it is previously well elaborated in the literature, epilepsies are a broad diagnostic term and only a small proportion of them belong to ocular myoclonus, especially when symptomatic. Materials and methods: We present a case report of a 18-month-old female child presenting several daily unilateral eyelid myoclia followed by shortlasting self-limiting atonic seizures. After excluding ophthalmological causes, detailed neurologic physical examination and electroencephalography were performed. Due to inconclusiveness, imaging diagnostic procedures (CTm,MRim) were also performed. Case report: The first neurological examination takes place at the age of 16 months, with a heteroanamnesis of occasional drooping of the left eyelid, which returns to its normal state spontaneously. On several occasions the previous event is followed with vomiting and a short attention deficit episode. The neurological examination in that particular moment was unremarkable and laboratory findings showed no abnormalities. Electroencephalographic recordings showed epileptogenic activity in the occipital lobe and raised the question of differential diagnosis, considering Panayiotopoulos Syndrome- benign early onset epilepsy. It was continued with further imaging diagnostics - MRIm that revealed the existence of a solid tumor mass with a diameter of 35-40 mm that compresses the pons, mesencephalon, parahippocampal lobe and hippocampus and also involves the basilar artery. The lesion had a suprasellar extension, but no affection of the optic chiasm was visualized. Results and therapy: The patient underwent neurosurgical extirpation of the tumor and pathohistological tissue examination and grading and molecular diagnostic. Embryonal tumor with multilayered rosettes (ETMR), C19MC-altered (WHO grade IV) was the final diagnosis. This embryonal tumour is identified by amplification on the C19MC region on chromosome 19 (19q13. 42). It tends to be diagnosed primarily in children under 4 years old, but is so rare that no incidence statistics are available. Conclusion: In the pediatric neurology department, even subtle neurologic symptoms deserve extensive attention. The challenge in diagnostics is to make a differentiation from the need for extensive and expensive diagnostics when we previously have a high probability direction that indicates a benign condition. The dilemma will always remain open considering the rare situations that may not merit protocol, but they turned out to be life-saving.

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