Acute Necrotizing Encephalopathy of Childhood: A Severe Case with Fatal Outcome

@#Acute necrotizing encephalopathy of childhood (ANEC) is a rare condition which is important for clinicians to recognize as it has a high mortality rate and can result in significant neurological morbidities. It presents as acute encephalopathy with radiological findings of symmetrical brain lesions in bilateral thalami, putamen, brain stem tegmentum, internal capsule, periventricular white matter and cerebellar medulla. Intravenous methylprednisolone is the mainstay of treatment. Immunoglobulin therapy and therapeutic hypothermia may be used as adjunctive therapy in cases with severe clinical and neuroradiological presentation. We present a case of severe ANEC and discuss the clinical manifestations, neuroimaging and management options.

Acute encephalopathy with biphasic seizures and late reduced diffusion / 中华实用儿科临床杂志

Acute encephalopathy is a common childhood disease,especially in the nervous system of infants and young children. Recently,a new subtype of childhood acute encephalopathy named acute encephalopathy with bi-phasic seizures and late reduced diffusion (AESD)has been reported. The patients present with persistent febrile sei-zures,long - term cognitive impairment and local brain atrophy. Acute infantile encephalopathy predominantly affecting the frontal lobes is a special type of AESD,which mainly impair the frontal lobe the improvement of understanding and early diagnosis of acute encephalopathy in children is particularly important.

Clinical and neuroimaging features of acute encephalopathy after status epilepticus in Dravet syndrome / 中华儿科杂志

Objective@#To investigate the clinical and neuroimaging characteristics of acute encephalopathy (AE) after status epilepticus (SE) of patients with Dravet syndrome (DS).@*Method@#The clinical data of DS patients who had AE (coma ≥24 h) after SE were retrospectively collected from February 2005 to August 2016 in Peking University First Hospital and SCN1A gene tests were performed.The clinical and neuroimaging features were summarized.@*Result@#Twenty-two patients (9 males and 13 females) with AE were collected among 412 DS patients during follow-up.Of which 18 patients had SCN1A gene mutations while the remaining 4 patients had no SCN1A gene mutations.The onset age of AE was between 6 months and 10 years.The duration of SE varied between 40 minutes and 9 hours.Prior to the onset of SE, twenty-one patients had high fever, and one patient had normal temperature.Coma lasted from 2 days to 20 days.Nine patients died after the AE, and 13 patients survived with massive neurological regression.From AE to the last visit, the median time of follow-up was 2 years and 3 months (from 7 months to 4 years and 4 months). Nine of 13 survivors had varied improvement in motor, language and cognition, while the remaining 4 patients had no significant improvement.After AE, there were 6 patients with seizure-free, 4 patients with reduced seizures, and 3 patients with no change in seizure frequency, moreover, spasm occurred in 2 patients.Six patients had brain magnetic resonance imaging (MRI) in acute phase and showed bilateral (2 patients) or unilateral (4 patients) hemisphere edema, accompanied by subcortical white matter hyperintense signal in T1 and T2 weighted images in two patients.The neuroimaging of 13 survivors demonstrated diverse cortical atrophy during recovery phase, among which 4 patients showed cerebellar atrophy, one patient had right pontine atrophy, 4 patients accompanied by signal abnormalities in subcortical and periventricular white matter, 2 patients showed right hippocampal sclerosis, and one patient showed signal abnormalities in bilateral basal ganglia.@*Conclusion@#SE is more prone to occur in Dravet patients who have high fever.It may result in AE or even death in severe cases.Survivors will leave severe neurological sequelae.The neuroimaging shows brain edema in acute phase.In recovery phase the neuroimaging shows diverse brain atrophy, moreover, a few patients may be associated with cerebellar or pontine atrophy, hippocampal sclerosis or abnormal signals in white matter or basal ganglia.

Study on the cerebral hemodynamic changes by transcranial Doppler ultrasonography from emergency ;periods to stable periods in severe acute encephalopathy children / 中国小儿急救医学

Objective To evaluate the correlations between the cerebral hemodynamic changes of severe acute encephalopathy with the clinical features from emergency periods to stable periods and the value of transcranial Doppler ultrasonography( TCD)in cerebral function assess. Methods Thirty patients with acute brain diseases by assisted mechanical ventilator from Jun 2014 to May 2015 in PICU were included and followed up to Nov 2015,then grouped by Glasgow Coma Scale( GCS),MRI,prognosis( mental sequelae after half a year). Each subject was examined through the temporal bone window by TCD at emergency peri-ods and stable periods. The systolic cerebral blood flow velocity( sCBFV),and pulsatility index( PI)of bilat-eral middle cerebral artery( MCA),anterior cerebral artery,posterior cerebral artery were analyzed. Multivari-ant analysis of variance,repeated measures analysis of variance was conducted to compare sCBFV and PI of MCA among groups in different clinical periods. The variants included sex,disease diagnosis,prognosis, MRI,GCS,and the first abnormal TCD. The variation within groups was tested via a Hotelling T2 test. All sCBFV and PI of each artery and the D-value of sCBFV between the different periods were compared accord-ing to the prognosis groups. Results (1)Five patients could be lateralized,and their lateralization of MRI focus was consistent with the abnormal sides of sCBFV in the stable periods.(2)The D-value of sCBFV in left MCA between the different periods in the poor prognosis group was significantly higher than that in the good prognosis group[(71. 93 ± 58. 21)cm/s vs.(33. 20 ± 30. 23)cm/s,t = -2. 287,P =0. 033].(3) Multivariant analysis of variance showed that GCS classification and disease diagnosis were significantly cor-related with the cerebral hemodynamic changes respectively(P =0. 042,0. 005,respectively).(4)sCBFV and PI of left MCA reduced significantly in the stable periods than those in the emergency periods( P =0. 002,0. 003,respectivly). Conclusion The cerebral hemodynamic changes by TCD from emergency peri-ods to stable periods are consistent with the clinical status,dynamic evaluation by TCD may facilitate the evaluation of brain dysfunction in the severe acute encephalopathy.

A Case of Acute Necrotizing Encephalopathy with a Thalamic Hemorrhage / 대한소아신경학회지

Acute necrotizing encephalopathy predominantly affects young children and infants living in Japan and Taiwan, and is characterised by acute encephalopathy with seizures and decreased level of consciousness. The Hallmark of the disease is diffuse and symmetrical CNS lesions of both thalami, brainstem tegmentum, cerebral periventricular white matter and cerebellar medula. The clinical, radiological and pathological features of this disease, a disease entity established recently, is proposed by Masashi Mizuguchi et al in 1995. The aetiology is unknown but infectious or parainfectious process seems likely. The diagnosis can be made without difficulty on the basis of the combination of a typical clinical figures and characteristic radiologic findings. There is no specific therapy or prevention. The prognosis was poor in the 1980s but has improved recently. We experienced a case of 6-month-old female infant with acute necrotizing encephalopathy and a thalamic hemorrhage. We report this case with a review of the related literatures.

A Case of Glutaric Aciduria Type I with Macrocephaly

Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine immunizations can trigger acute encephalopathy, causing injury to caudate nucleus and putamen. But intellectual functions are well preserved until late in the disease course. We report a one-month-old male infant with macrocephaly and hypotonia. In brain MRI, there was frontotemporal atrophy(widening of sylvian cistern). In metabolic investigation, there were high glutarylcarnitine level in tandem mass spectrometry and high glutarate in urine organic acid analysis, GA1 was confirmed by absent glutaryl-CoA dehydrogenase activity in fibroblast culture. He was managed with lysine free milk and carnitine and riboflavin. He developed well without a metabolic crisis. If there is macrocephaly in an infant with neuroradiologic sign of frontotemporal atrophy, GA1 should have a high priority in the differential diagnosis. Because current therapy can prevent brain degeneration in more than 90% of affected infants who are treated prospectively, recognition of this disorder before the brain has been injured is essential for treatment.

A Case of Acute Encephalopathy with Thalamotegmental Involvement / 대한소아신경학회지

Acute encephalopathy with thalamotegmental involvement is characterized by the rapid evolution of stupor and coma, associated with generalized seizures and decorticate or decerebrate rigidity without focal neurologic or meningeal irritation signs. The magnetic resonance findings in a 6-year-old patient with neurologic abnormalities demonstrate bilateral symmetrical high signal intensity lesions involving both the thalami and the tectum in axial T2-weighted image. We report a case of acute encephalopathy with thalamotegmental involvement.

Two Cases of Acute Encephalopathy with Thalamotegmental Involvement and Remained Motor Dysfunction in Infants / 대한소아신경학회지

Acute encephalopathy with thalamotegmental involvement occurs in infants and young children and is thought to be a postviral or postinfectious brain disease. This disease is preceded for several days by fever and symptoms of upper respiratory infection. The symptoms are followed by the rapid evolution of stupor and coma, associated with generalized seizures and decerebrate rigidity. In this disease, the computed tomography (CT) or brain magnetic resonance imaging demonstrate symmetrical focal lesions in the thalami and brainstem tegmentum. We report two cases of acute encephalopathy with thalamotegmental involvement and remaining motor dysfunction in infants.

A Case of Acute Necrotizing Encephalopathy

This disease predominantly affects infants and young children living in Japan and Taiwan, and manifests itself as acute encephalopathy following viral infections. The hallmark of this encephalopathy is multifocal, symmetric brain lesions affecting bilateral thalamus, brainstem tegmentum, cerebral periventricular white matter and cerebellar medulla, which can be visualized by computed tomography and magnetic resonance imaging. Both the gray and white matter are involved, with neuropathological evidence of local breakdown of the blood-brain barrier. The prognosis was poor in the 1980s, but has improved recently. A characteristic combination of focal neurologic signs is often recognized as the sequelae. We experienced a case of a 7-month-old male infant who had been transferred to our hospital for comatous mentality and clonic seizure of both arms and legs. We report this case with a review of the related literatures.

Two Cases of Acute Encephalopathy with Symmetrical Low Density Areas in Bilateral Thalami in Siblings

When neurologic clinical manifestation suggests encephalitis but inflammation of brain has not occurred, the condition is identified by the less specific term encephalopathy. A strange type of acute encephalopathy, which is characterized by symmetrical low density areas in both thalami on brain computed tomography (CT) images, has been reported in Japan and Taiwan. This type of acute encephalopathy usually occurs in infants and young children without sexual predilection and is preceded by fever and symptoms of upper respiratory infection for several days. These symptoms are followed by the rapid evolution of stupor and coma, associated with generalized seizures and decorticated and decerebrated rigidity without focal neurologic or meningeal signs. Brain CT images demonstrates symmetrical low density areas in both thalami. Because it is preceded by fever and symptoms of upper respiratory infection and pathologic finding shows necrosis, petechiae, and marked congestion of the veins and capillaries suggesting noninflammatory vascular changes, it may be a postviral or postinfectious brain disorder, characterized by the distribution of the lesions. We experienced two cases of this type of acute encephalopathy in siblings, who showed symmetrical low density areas in both thalami on brain CT images and report these cases with a brief review of related literatures.