Crossing the lines between epilepsy syndromes: a myoclonic epilepsy variant with prominent eyelid myoclonia and atonic components.

Accurate diagnosis of a distinct epilepsy syndrome is based on well-defined electroclinical features that differentiate separate nosological entities. In clinical practice, however, syndromes may overlap and cases may present with unusual manifestations posing a diagnostic challenge. This heterogeneity has been documented in several cases presenting with eyelid myoclonia with or without absences (EMA) diagnosed either as Jeavons syndrome (JS) variants or as genetic generalised epilepsies defined by the presence of this unique clinical entity. The hallmark of JS is the triad: (1) eyelid myoclonia with or without absences, (2) eye closure-induced paroxysms, and (3) photosensitivity. The presence of massive myoclonus, intellectual disability, or slowing of the EEG background are not typical features of the syndrome and may cause delay in making the correct diagnosis. Adding to the variability of clinical features, we describe two female paediatric patients with probable genetic epilepsy who presented with EMA but demonstrated clear atypical features, such as prominent myoclonic seizures, atonic components on video-EEG, and cognitive impairment. We also note the presence of interictal and ictal posterior discharges during eyelid myoclonia in one, supporting similar previous observations leading to consideration of EMA as an occipital cortex-initiated seizure activity. [Published with video sequences on www.epilepticdisorders.com].

Amyloidosis of the endometrium: an asymptomatic presentation.

BACKGROUND: Amyloidosis of the endometrium is a rare occurrence according to current literature. Previously reported cases have presented with menorrhagia or postmenopausal bleeding. CASE: A postmenopausal woman with multiple medical problems presented with fatigue and weight loss. During the evaluation for her 18-kg weight loss, a computed tomography scan revealed an enlarged uterus and liver lesions. Endometrial and liver biopsies were performed secondary to concern over metastatic cancer, given an enlarged uterus in a postmenopausal woman with liver masses. She was found to have systemic primary amyloidosis in multiple organs, including her endometrium. CONCLUSION: This patient represents an interesting case of systemic amyloidosis involving the endometrium that is not associated with vaginal bleeding. The presence of amyloid in the endometrium may be more common than currently recognized, because patients without vaginal bleeding are not routinely evaluated for amyloid deposition in their reproductive organs.