Phenotypes associated with the disease Acute encephalopathy with biphasic seizures and late reduced diffusion (ORPHA:363549):
- Bilateral tonic-clonic seizure (HP:0002069): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:363549)
- Hypointensity of cerebral white matter on MRI (HP:0007103): A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363549)
- Loss of consciousness (HP:0007185): Loss of awareness of oneself or one's surroundings, involving (i) a loss of normal motor control is evident as flaccidity or stiffness, either of which can be accompanied by jerking movements, and postural control is lost so that patients fall if they are in an upright position; (ii) normal responsiveness is lost; and (iii) the patient experiences amnesia for the event. Loss of consciousness my be transitory (e.g., syncope) or prolonged. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363549)
- Complex febrile seizure (HP:0011172): A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363549)
- Abnormal metabolic brain imaging by MRS (HP:0012705): An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363549)
- Severe viral infection (HP:0031691): An unusually severe viral infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363549)
- Increased circulating procalcitonin concentration (HP:0032308): An elevated concentration of procalcitonin in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363549)
- Seizure precipitated by febrile infection (HP:0032894): Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363549)
- Seizure cluster (HP:0033349): A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognizable by the primary clinician, carer or patient. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363549)
- Uncontrolled eye movements (HP:0007738). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363549)
- Status epilepticus without prominent motor symptoms (HP:0031475): There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363549)
- Takotsubo cardiomyopathy (HP:0011665): Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:363549)