SUMMARYJoubert syndrome and related disorders comprise a subgroup of ciliopathies defined by the presence of the 'molar tooth sign', a midbrain-hindbrain malformation identifiable by neuroimaging. Characteristically, the corticospinal tract and superior cerebellar peduncles do not decussate. Epileptic seizures are uncommon. We present a case of a 28-year-old man with a background of Leber's congenital amaurosis with nephronophthisis, requiring kidney transplantation, and mental retardation, who developed epileptic seizures consisting of a short muffled cry and involuntary shaking movements of the extremities beginning in the left upper limb; these episodes lasted several seconds and occurred in clusters. Simultaneous video-EEG recording showed an ictal pattern in the left frontal lobe. Brain MRI revealed the pathognomonic 'molar tooth sign'; diffusion tensor imaging (DTI)-tractography showed a lack of decussation of both corticospinal tracts. To the best of our knowledge, this is the first time that DTI-tractography has been used to uncover the anatomical substrate underlying the semiology of epileptic seizures.
BACKGROUND
All of the evaluated scales (STESS, mRSTESS, and EMSE) were shown to be useful in predicting HD/HM. EMSE was observed to be the most effective of the scales, with relative similarities among the variants.
Episodes of loss of consciousness are common, even in young, healthy people, and can sometimes represent a diagnostic challenge. The main diagnoses to consider are syncope and epileptic seizures, both of which may have similar symptomatology such as dizziness, loss of consciousness, falls, or “convulsive” phenomena. We present the case of a young male patient with a background of two venous thrombosis episodes (superior vena cava thrombosis and cerebral venous thrombosis), attributed to protein C and S deficiency and complicated by high intracranial pressure. A lumboperitoneal shunt was performed and anticoagulant therapy was initiated. He did not experience any medical problems until several years later, when he suddenly began to develop frequent, repetitive, transient episodes of dizziness, followed by loss of consciousness. Simultaneous video‐EEG and ECG performed during these events showed a typical pattern normally observed during syncope. Due to the absence of changes in heart rate or blood pressure, and taking into account his medical history, intracranial hypertension was considered as a possible cause of cerebral hypoperfusion. Cerebral arteriography demonstrated chronic thrombosis of all the cerebral sinuses, and the lumbar puncture an intracranial pressure of 47 mm Hg. The lumboperitoneal shunt was replaced and the patient has since not presented with any episodes. The use of simultaneous video‐EEG and ECG is a reliable and efficient approach to differentiate between syncope and seizure and in this case, was the key to finding the cause of these episodes. [Published with video sequences]
Background: Few studies have evaluated the incidence, predisposing factors and impact of healthcare-associated infections (HCAIs) in relation to outcomes among patients with status epilepticus (SE). Objective: To investigate the variables associated with development of HCAIs among patients with SE and the impact of factors relating to HCAIs on mortality at three months. Methods: This study was a retrospective analysis on our prospectively collected dataset, from November 2015 to January 2019. The sample included all consecutive patients diagnosed with SE who were treated at Hospital Eugenio Espejo during that period. In total, 74 patients were included. Clinical variables such as age, etiology of SE, Charlson comorbidity index (CCI), hospital length of stay, refractory SE (RSE) and outcomes were analyzed. Results: HCAIs were diagnosed in 38 patients (51.4%), with a preponderance of respiratory tract infection (19; 25.7%). Prolonged hospital length of stay (OR=1.09; 95%CI 1.03-1.15) and CCI≥2 (OR=5.50; 95%CI 1.37-22.10) were shown to be independent variables relating to HCAIs. HCAIs were associated with an increased risk of mortality at three months, according to Cox regression analysis (OR=2.23; 95%CI 1.08-4.58), and with infection caused by Gram-negative microorganisms (OR=3.17; 95%CI 1.20-8.39). Kaplan-Meier curve analysis demonstrated that HCAIs had a negative impact on the survival rate at three months (log rank=0.025). Conclusions: HCAIs are a common complication among Ecuadorian patients with SE and were related to a lower survival rate at three months. Prolonged hospital length of stay, RSE and CCI≥2 were associated with the risk of developing HCAIs.
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