We present the case of an 8-month-old boy who presented with apparent life-threatening events later characterized as seizures in clusters. A total of 14 apneic episodes were observed within 24 hours before loading the patient with phenobarbital at which point the seizures stopped. There was no obvious explanation for his seizures. EEG revealed midline interictal discharges; MRI-head was normal; and all other investigations were normal. The patient' s stool was sent for virology with the clinical suspicion of benign infantile seizures associated with mild gastroenteritis (BISMG) despite lack of gastrointestinal symptoms. A small round virus was found. His clinical course followed the same progression as typical BISMG. This begs the question whether it is possible for virus in the stool to cause an asymptomatic gastrointestinal infection with its only clinical manifestation as seizures. We conclude that it may be possible for BISMG to present without gastrointestinal symptoms. As well, BISMG may be an unrecognized cause of apparent life-threatening events and should be considered in the differential diagnosis. Pediatrics 2014;133:e758-e761 AUTHORS:

No abstract

No abstract

CDKL5 Deficiency Disorder (CDD) or CDKL5-associated epileptic encephalopathy (CAEE) is a distinct X-linked dominant epileptic encephalopathy that shares many features with Rett syndrome. In the past decade, mutations in CDKL5 gene were identified as part of the molecular heterogeneity of MECP2- negative Rett syndrome. CDD has increasingly gained recognition as a distinct molecular and clinical phenotype. Here we present four new patients with CDD: one with a clinical presentation of reflex seizures previously reported as a case report by the same group, and three cases with novel disease-causing mutations. The emerging distinct phenotype of CDD should allow the clinician to suspect the diagnosis early and avoid a lengthy diagnostic odyssey.

Phenomenology is a twentieth century school of thought that addresses philosophical questions by focusing our attention on the nature of experience. Emmanuel Lévinas combines this approach with the fundamentally ethical knowledge that there is another who is beyond us, who is exterior. My project examines Lévinas’ ethically informed phenomenological reflections on the structure of two specific experiences, namely love and forgiveness. Forgiving and being forgiven are everyday, familiar experiences. But what are we really doing when we forgive someone? My approach is exegetical in spirit; while attempting to remain faithful to Lévinas’ esoteric texts, I resort to combining Levinasian sources in order to survey and restate his ideas and to fill in some of the blanks that confront the reader. I extrapolate in good faith as a student of Lévinas, guided by shared intuitions and insights. I begin by exploring our intuitions about what may be considered a wrong that nonetheless can be forgiven. Then, I explore two paradoxes of forgiveness to illustrate the complexity of the process and indicate the path towards a solution. Before I arrive at this solution, I compare the experience of forgiveness to the experience of love and discover that what lies at the heart of the issue is the intentional altering of memory and history. This phenomenon turns out to be not only possible but commonplace in everyday experience. Through it the meaning of felix culpa, the happiness of guilt, can be revealed. This revelation will be the happy ending of my presentation.