[P1-72] Epileptic Seizure as an Ininitial Symptom of Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary diffuse leukoencephalopathy with spheroids (HDSL) is an autosomal dominant white matter disease characterized by depression, memory decline, executive dysfunction, motor impairments, and epilepsy. The incidence of epilepsy is high in patients with HDLS; however epilepsy in the early stage of HDLS is rare.
We describe a patient with HDLS who had a seizure at disease onset. A 60-year-old man had his first epileptic seizure at the age of 58. He turned around with his right hand raised above his head, and then the seizure evolved to a generalized tonic-clonic seizure. He also had cognitive impairment and depressive state. Brain magnetic resonance imaging showed diffuse cerebral leukoencephalopathy. His cognitive dysfunction and akinesia progressed gradually, and his seizure recurred twice. Two years later of his first seizure, he was in a state of an akinetic mutism. The patient’s brother also had encephalopathy at the age of 45, and he experienced seizures which evolved to tonic posture of upper limbs after eye deviation at the age of 59. He also had status epilepticus. He died at the age of 62. Results of genetic testing for the colony stimulating factor 1 receptor gene showed the p.E825K (c.2473G>A) mutation in exon 19 in these brothers, and they were diagnosed as HDLS.
HDLS is a mainly adult-onset disease and usually has epilepsy at the late stage. However, several report revealed that HDLS also developed in the childhood and such cases more often tend to have epilepsy in the early stage than the adult-onset cases.
We describe a patient with HDLS who had a seizure at disease onset. A 60-year-old man had his first epileptic seizure at the age of 58. He turned around with his right hand raised above his head, and then the seizure evolved to a generalized tonic-clonic seizure. He also had cognitive impairment and depressive state. Brain magnetic resonance imaging showed diffuse cerebral leukoencephalopathy. His cognitive dysfunction and akinesia progressed gradually, and his seizure recurred twice. Two years later of his first seizure, he was in a state of an akinetic mutism. The patient’s brother also had encephalopathy at the age of 45, and he experienced seizures which evolved to tonic posture of upper limbs after eye deviation at the age of 59. He also had status epilepticus. He died at the age of 62. Results of genetic testing for the colony stimulating factor 1 receptor gene showed the p.E825K (c.2473G>A) mutation in exon 19 in these brothers, and they were diagnosed as HDLS.
HDLS is a mainly adult-onset disease and usually has epilepsy at the late stage. However, several report revealed that HDLS also developed in the childhood and such cases more often tend to have epilepsy in the early stage than the adult-onset cases.