WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
the 8th letter of the Roman alphabet (同)h

PrepTutorEJDIC

(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
hydrogenの化学記号
鉛筆の硬度 / 《俗》heroin

English Journal

Hemiconvulsion-hemiplegia-epilepsy syndrome: clinical course and neuroradiological features in a 20-month-old girl.

Bhat RY1, Kakkar S, Prakashini K.Author information 1Department of Paediatrics, Kasturba Medical College, Manipal, Karnataka, India.AbstractHemiconvulsion-hemiplegia-epilepsy (HHE) syndrome involves initial sudden and prolonged unilateral convulsive seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Seizures are prolonged, difficult to control and sometimes may require surgery. Hemiplegia varies in intensity, differs from Todd paralysis and disappears in about 20% of cases. Neuroimaging characteristically shows brain atrophy more pronounced on the hemisphere contralateral to the side of hemiplegia with dilation of the ventricular system. A 20-month-old girl presented with left hemiconvulsions and left hemiplegia lasting for a prolonged period. Seizures failed to resolve with various anticonvulsants even after many physician contacts. Characteristic neuroimaging findings, seizure control with carbamazepine and valproate, subsequent recovery of hemiplegia and attainment of developmental milestones observed on follow-up confirmed HHE syndrome. The case highlights the need for good seizure control in this syndrome.
BMJ case reports.BMJ Case Rep.2014 Mar 10;2014. pii: bcr2013203482. doi: 10.1136/bcr-2013-203482.
Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome involves initial sudden and prolonged unilateral convulsive seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Seizures are prolonged, difficult to control and sometimes may require surgery. Hemipl
PMID 24614781

Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association.

Gupta R1, Agarwal M, Boqqula VR, Phadke RV, Phadke SR.Author information 1Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.AbstractHemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. Exact pathogenesis is not clear. Here we are describing a 3-year-old girl with HHE syndrome with cytogenetic microarray (CMA) showing deletion of 1.8 Mb in 1q44 region. Along with HHE syndrome, the patient also had global developmental delay, subtle facial dysmorphism, and preaxial polydactyly. Clinical phenotype of 1q44 microdeletion syndrome is quite variable. Main clinical features are microcephaly, seizures, and abnormality of corpus callosum. We compared the patient's phenotype with other patients in 10 previously published papers of 1q44 microdeletion syndrome. HNRNPU and FAM36A are two important genes in the deleted region. HNRNPU gene mediate long range control of SHH gene which is likely explanation of preaxial polydactyly in the present patient. HHE may be a chance co-occurrence.
American journal of medical genetics. Part A.Am J Med Genet A.2014 Jan;164A(1):186-9. doi: 10.1002/ajmg.a.36198. Epub 2013 Nov 8.
Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. Exact pathogenesis is not clear. Here we are describing a 3-year-old girl with HHE syndrome with cytogenetic microarray (CMA) showing
PMID 24214579

Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia.

Serino D1, Camassei FD2, Delalande O3, Marras CE3, Specchio N4, Vigevano F4, Fusco L4.Author information 1Neurology Unit, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: domenico.serino@opbg.net.2Pathology Unit, Bambino Gesù Children's Hospital, Rome, Italy.3Neurosurgery Unit, Bambino Gesù Children's Hospital, Rome, Italy.4Neurology Unit, Bambino Gesù Children's Hospital, Rome, Italy.AbstractHemiconvulsion-Hemiplegia (HH) syndrome represents an uncommon consequence of prolonged unilateral clonic or hemiconvulsive status epilepticus in childhood, usually occurring during a febrile illness, followed by ipsilateral hemiplegia. The subsequent appearance of focal seizures configures the so called Hemiconvulsion-Hemiplegia-Epilepsy (HHE) syndrome. The pathogenesis of HH/HHE syndrome is still unclear. We describe the case of a 4 year-old girl with congenital adrenal hyperplasia (CAH) whom developed HH/HHE syndrome with drug resistant seizures at the age of 21 months and underwent left cerebral hemispherotomy at the age of 3 years and 6 months. Histopathological findings showed the presence of an underlying inflammatory-degenerative process. Disregulation of the inflammatory cascade has been proposed as one of the possible pathogenetic mechanisms underlying HH/HHE syndrome. To our knowledge however, this is the first report of an association with a histologically documented inflammatory process. The clinical and histopathological findings of our reported case lend support to the possible role of inflammation in the pathogenesis of HH/HHE syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.Eur J Paediatr Neurol.2013 Dec 10. pii: S1090-3798(13)00176-1. doi: 10.1016/j.ejpn.2013.11.001. [Epub ahead of print]
Hemiconvulsion-Hemiplegia (HH) syndrome represents an uncommon consequence of prolonged unilateral clonic or hemiconvulsive status epilepticus in childhood, usually occurring during a febrile illness, followed by ipsilateral hemiplegia. The subsequent appearance of focal seizures configures the so c
PMID 24355077