Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy.

Epileptic seizures, movement disorders and breathing disturbances may be observed in Rett syndrome, and correct diagnosis is mandatory for the management. We evaluated the usefulness of video-polygraphy in the differential diagnosis between epileptic and non-epileptic paroxysmal events in eight patients with Rett syndrome. Based on video analysis, myoclonic seizures were usually misdiagnosed as movement disorders and stereotypies; the events identified by parents as generalized tonic-clonic seizures included episodes of motor activity and breathing abnormality. Myoclonic seizures aggravated by inappropriate treatment were evident in four patients; hyperventilation and apnea during wakefulness were present in all patients, while central sleep apneas were present in one patient; sinus tachycardia and cardiac arrhythmias emerged in six patients; cortical myoclonus was disclosed in five patients. In Rett syndrome, video-polygraphy is essential in characterizing the clinical features of paroxysmal events, determining autonomic dysfunctions, documenting myoclonic motor phenomena, and evaluating the responses to the treatment of epilepsy.

A case of early-onset and monophasic trigeminal autonomic cephalalgia: could it be a SUNCT?

A 2-year-old female came to the Neurological Emergency Room of "Giovanni XXIII" Hospital in Bari, 6 h after the onset of severe facial pain, which occurred soon after awakening. Stabbing pain affected the right frontal and periorbital area, with ipsilateral conjunctival injection, swelling of the eyelids and tearing. Except the duration, from 5 to 30 s., the attacks were stereotyped including the occurrence and features of autonomic signs. Based on the typical clinical findings and the normal magnetic resonance imaging (MRI), we diagnosed short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome (SUNCT). The spontaneous remission within a few hours made prophylactic therapy unnecessary. At the last follow-up, after 3 months, the patient was still symptom free. In our case, after an active period lasting 2 days the disease disappeared completely. However the typical features of the disease (unilateral pain, short duration and high frequency of the attacks, autonomic signs ipsilateral to pain, numbers of attacks) were all present. While the diagnostic criteria of the International Headache Society classification for SUNCT did not include the duration of disease, it is likely that the active period lasting 2 days could be an expression of the clinical variability of the disease.

Chorioretinal lacunae: pathognomonic findings for Aicardi syndrome.

Aicardi syndrome is characterized by agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. The authors describe the case of a girl with chorioretinal lacunae, seizures, and cerebral cyst, but a normal corpus callosum. Incomplete forms of Aicardi syndrome are reported in the literature, but typical choroidal lacunae are always present and are pathognomonic.