Multiple Cerebral Pseudoaneurysms and Hemorrhages: The Expanding Spectrum of Metastatic Cerebral Choriocarcinoma

Cerebral metastases occur in 10–20% of patients with choriocarcinoma. Although single oncotic and pseudoaneurysms have been reported, multiple pseudoaneurysms and hemorrhages are rare. A 33–year–old woman developed 10 intracerebral hemorrhages over a 30–day period. Angiogram showed multiple focal areas of delayed contrast washout in distal vessels. Autopsy revealed intravascular choriocarcinoma without true aneurysm formation. A diagnosis of choriocarcinoma should be considered for women of childbearing age presenting with cerebrovascular syndromes, especially those found to have cerebral aneurysm, pseudoaneurysm, and/or hemorrhage.     

Cerebral hemiatrophy with superficial siderosis and PLEDs due to a germ cell tumor of the basal ganglia

The diagnosis of basal ganglia germ cell tumors may be delayed due to slow progression and minimal early changes on magnetic resonance imaging (MRI). The cystic nature of some tumors may lead to non-diagnostic biopsies. We describe the clinical, imaging, laboratory, and postmortem findings of a basal ganglia germ cell tumor in a 19-year-old man. Clues to an early antemortem diagnosis based on MRI findings and determination of tumor markers are discussed. An early diagnosis and accurate characterization of basal ganglia germ cell tumors is essential for optimal therapy. The presence of cerebral hemiatrophy and hemorrhagic or cystic components is suggestive. Measurement of serum and cerebrospinal fluid markers such as human chorionic gonadotropin may suggest the diagnosis.     

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

BackgroundPyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in accumulation of α-aminoadipic semialdehyde/pyrroline 6′ carboxylate and pipecolic acid. Beside neonatal refractory epileptic encephalopathy, numerous neurological manifestations and metabolic/biochemical findings have been reported.Methods and ResultsWe present a phenotypic spectrum of antiquitin deficiency based on a literature review (2006 to 2015) of reports (n = 49) describing the clinical presentation of confirmed patients (n > 200) and a further six patient vignettes. Possible presentations include perinatal asphyxia; neonatal withdrawal syndrome; sepsis; enterocolitis; hypoglycemia; neuroimaging abnormalities (corpus callosum and cerebellar abnormalities, hemorrhage, white matter lesions); biochemical abnormalities (lactic acidosis, electrolyte disturbances, neurotransmitter abnormalities); and seizure response to pyridoxine, pyridoxal-phosphate, and folinic acid dietary interventions.DiscussionThe phenotypic spectrum of pyridoxine-dependent epilepsy is wide, including a myriad of neurological and systemic symptoms. Its hallmark feature is refractory seizures during the first year of life. Given its amenability to treatment with lysine-lowering strategies in addition to pyridoxine supplementation for optimal seizure control and developmental outcomes, early diagnosis of pyridoxine-dependent epilepsy is essential. All infants presenting with unexplained seizures should be screened for antiquitin deficiency by determination of α-aminoadipic semialdehyde/pyrroline 6′ carboxylate (in urine, plasma or cerebrospinal fluid) and ALDH7A1 molecular analysis.     

Cerebral hemiatrophy and hemiparesis following hemiclonic status epilepticus in Dravet syndrome

Dravet syndrome is currently considered as an developmental and epileptic encephalopathy and, recently, mandatory, alert, and exclusionary criteria have been proposed. Here, we describe three patients with Dravet syndrome with the typical early presentation including febrile and afebrile alternating hemiclonic seizures due to loss-of-function SCN1A variants. Subsequently, they developed episodes of febrile focal status epilepticus (SE) associated with hemiparesis and cerebral hemiatrophy with posterior focal seizures, as a consequence of Dravet syndrome. This sequence of events has been previously published in patients with Dravet syndrome and does not contradict the recent classification by the International League Against Epilepsy (ILAE). The ILAE guidance identifies “Focal neurological findings” as alert criteria and “MRI showing a causal focal lesion” as exclusionary criteria for making an initial diagnosis of Dravet syndrome at presentation. Our three patients would correspond to a severe phenotype, similar to the well-known presentation of generalized atrophy following prolonged status epilepticus. Common genetic findings in cases of diffuse and unilateral brain involvement may help explain these clinical presentations. Further genotype–phenotype studies may provide additional insights into this electroclinical behavior.     

Cerebral infarcts associated with migraine: Clinical features,risk factors and follow-up

There have been few reports concerning the characteristics of cerebral infarction associated with migraine (CIAM), and especially about the subsequent fate of these patients. We studied 14 patients (9 female) with CIAM. In all these patients the onset of cerebral infarction was accompanied by a unilateral throbbing headache, in 8 also with a gradual build-up of neurological deficits. No other cause of cerebral infarction could be found in these patients. Twelve patients had had previous attacks of migraine, with auras in 6. The nature of the neurological deficit was similar to previous auras in only 3 of these patients. The 2 patients without a history of migraine both developed migraine attacks afterwards. During the same period we also studied 14 patients (8 female) with a cerebral infarct of unknown origin (CIUO). The infarct involved the occipital lobe in 11 of the 14 patients with CIAM, whereas this occurred in 4 patients with CIUO [relative risk (RR): 2.8; 95% confidence interval (CI): 1.2–6.6]. Patients with CIAM had risk factors for atherosclerosis significantly less often than patients with CIUO (RR: 0.1; 95% CI: 0.02–0.9). The functional outcome of patients with CIAM was better than in patients with CIUO: all 14 patients with CIAM were independent in their daily activities, compared with 9 patients with CIUO (RR: 1.6; 95% CI: 1.1–2.3). No patient in either group had a recurrent stroke during a median follow-up period of 5.8 years. In conclusion. CIAM is a stroke entity causing mostly infarcts in the occipital lobe; vascular risk factors are uncommon and prognosis is generally good.     

Cerebral blood flow changes in migraine: methods, observations and hypotheses

A number of basically different methods have been used in studies of the cerebrovascular changes which occur in migraine and each individual set of findings seems to be dependent on which method is used. One method on its own can only disclose a part of all the pathophysiological events. This review is an attempt to consider the capabilities of each method and to bring together the results from different studies on migraine in order to create a complete picture of the cerebrovascular changes which occur during the course of a migraine attack.     

Postictal cerebral hemiatrophy: With a contribution to the problem of crossed cerebellar atrophy

Summary A case is presented of a 4.5-year-old child who died 5 days after the onset of a continuous hemiconvulsion and compared with three cases of established cerebral hemiatrophy. The laminar necrosis in the first case was strikingly similar in severity and distribution with the laminar cell loss in the others, thus producing additional evidence in support of the postictal aetiology of diffuse cerebral hemiatrophy. Particular attention was focussed on the pontocerebellar lesions. Three types of lesions were observed in the ipsilateral nuclei pontis: (1) focal neuronal necrosis in the acute stage, (2) focal neuronal loss, presumably the end result of the preceding lesion and (3) transneuronal atrophy. The contralateral cerebellar hemisphere showed the following abnormalities, singly or in combination: (1) necrosis of Purkinje cells in the acute stage, (2) loss of Purkinje cells and lobular sclerosis in advanced cases and (3) reduction in bulk of the hemisphere due to lesions in the nuclei pontis and degeneration of pontocerebellar fibres. These findings of the so-called crossed cerebellar atrophy.     

Expanding the Spectrum of MERS Type 2 Lesions,a Particular Form of Encephalitis

We report on a 13-year-old boy who presented with signs suggestive of encephalitis and in whom magnetic resonance imaging revealed lesions in the genu and splenium of the corpus callosum and symmetrical lesions bilaterally in the center semiovale. This clinical-radiologic entity was previously reported in the literature and was given the acronym MERS type 2 (mild encephalitis with reversible splenial) lesion. The clinical, radiologic, and biochemical characteristics of the patient with MERS type 2 lesions presented in this article show some differences with those in previously reported patients. His clinical recovery was particularly slow, cerebrospinal fluid was abnormal, and on magnetic resonance imaging the typical time course of MERS type 2 lesions resolving through a phase of solitary lesions in the splenium of the corpus callosum, the so-called type 1 lesions, was not seen. He is also the first patient in whom mycoplasma pneumoniae was found to be associated with MERS type 2 lesions. These findings further expand the spectrum of MERS type 2 lesions. The question raises whether the MERS type 2 lesion represents a new type of encephalitis or a particular radiologically recognizable subtype of postinfectious encephalitis. In the article, previously reported patients with MERS type 2 lesions are reviewed.     

Cerebral Cortex Involvement in Neuromyelitis Optica Spectrum Disorder

MethodsThe study enrolled 215 NMOSD patients who were seropositive for the anti-AQP4 antibody from 5 referral hospitals, and retrospectively analyzed their demographic, clinical, and MRI findings. Abnormal cerebral cortex lesions on brain MRI were identified by a neuroradiologist and two neurologists using consensus.ResultsMost of the 215 enrolled patients (87%) were female. The median age at onset was 22.5 years (range: 15–36 years) and the mean follow-up duration was 123 months. Brain lesions were found in 143 of 194 patients (74%) in whom MRI was performed during follow-up. Brain lesions involving the cerebral cortex were identified in 6 of these 194 patients (3.1%). Five of the patients were female, and the six patients together had a median age of 29 years (range: 15–36 years) at the time of lesion presentation. Three of them showed leptomeningeal enhancement in the lesions. At presentation of the cortex-involving lesions, five of these patients were not being treated at the time of presentation, while the sixth was being treated with interferon-beta.ConclusionsAlthough rare, cortical involvement occurs in NMOSD and is commonly combined with leptomeningeal enhancement. We speculate that this occurs only in patients who are not treated appropriately with immunosuppressant drugs.     

Cerebral Arteriovenous Malformations as Acquired Lesions: Case Reports and Review of the Literature

Cerebral arteriovenous malformations (AVMs) are generally attributed to congenital lesions that arise from aberrant vasculogenesis between the fourth and eighth weeks of embryonic life. However, this dogma has been challenged by several recent observations, one of which is de novo formation of AVMs. Forty cases of de novo AVMs were published between 2000 and 2019, all of which involved a history of intracranial insult, such as vascular abnormalities or nonvascular conditions, prior to AVM diagnosis. We hereby present two unique operative cases of ruptured de novo AVMs in older adult patients. Case 1 is novel in the sense that the patient did not experience any kind of environmental trigger (“second hit”) such as a previous intracranial insult, while Case 2 serves as the second report of a de novo AVM patient with a medical history of Bell's palsy.Although the exact mechanisms of AVM formation remain to be elucidated, it is likely to be a multifactorial process related to environmental and hemodynamic factors.     

A case of facial hemiatrophy associated with linear scleroderma and homolateral masseter spasm

The rare combination of progressive facial hemiatrophy, linear scleroderma and spasm of the homolateral masseter muscle was observed in a 39 year old woman. The possible pathogenetic meaning of the association is discussed on the electrophysiological evidence and in the light of published cases.

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Sommario In una donna di 39 anni è stata osservata la rara associazione di emiatrofia facciale progressiva, sclerodermia lineare e spasmo del muscolo massetere omolaterale. Sulla base dello studio elettrofisiologico nonché dalla revisione della letteratura, gli Autori discutono sul possibile significanto di tale associazione da un punto di vista patogenetico.

     

An Autopsy Case of Multiple Leucoencephalitis Showing Hemiatrophy of the Brain

A 39-year-old female died 25 years after the onset of epileptic seizure. In the clinical course, she suffered epileptic seizures, left hemiparesis and muscular atrophy of the left upper extremity, psychological character change, dementia, forced laughter and hallucinatory and delusional states. Pathologically, severe changes were found in the right hemisphere consisting of lesions of white matter with myelin loss, especially in the frontal, temporal and occipital lobes. Gliosis was diffusely observed in the white matter excepting areas with severe changes. In some parts of the cortex, the cytoarchitecture was destroyed and in this area, blood vessels numerously increased. In the left occipital white matter, perivascular infiltration mainly consisting of lymphocytes was observed with numerous fat granule cells and gemystocytic astrocytes around them. The present case may belong to the category of multiple leucoencephalitis, however, it had many characteristic features, such as a long clinical course (25 years) and pathologically revealed hemiatrophy of the brain.     

Hemiatrophy of the tongue: a rare complication of the hemiplegic migraine

A rare case of a patient with complicated migraine is presented. The patient had hemiatrophy of the tongue as a residual of a migraine episode. This cleared after several months. The paper goes on to trace the history of complicated migraine and the rather unusual complication of hemiatrophy of the tongue.     

Spectrum of Visual Disorders in a Population-Based Cerebral Palsy Cohort

BackgroundChildren with cerebral palsy are known to be at increased risk for visual impairment.MethodsIn a population-based sample drawn from a geographically defined registry, the profile of visual impairment in children with cerebral palsy was investigated.ResultsClose to half (49.8%; 106/213) had a visual impairment. The majority of these individuals had strabismus (55.7%; 59/106) and a slightly lesser fraction had refractive errors (20.7%; 22/106) or severe visual loss (18.9%; 20/106). The vast majority of children with severe visual loss had spastic quadriplegia (83%; 17/20) or were nonambulatory (i.e., Gross Motor Function Classification Scale IV/V, 80%; 16/20).ConclusionsKnowledge of this profile will assist practitioners to heighten their appreciation of potential visual disturbances in certain subsets of children with cerebral palsy.     

偏头痛患者血中神经肽含量的观察

目的　观察偏头痛患者血中代表交感、副交感及感觉神经系统的神经肽以及内源性类阿片肽的变化。方法　用放射免疫分析的方法 ,对三批共 15 6例偏头痛患者血浆中 β-内啡肽 (β- EP)、神经肽 Y(NPY)、P物质 (SP)、血管活性肠肽 (VIP)、降钙素基因相关肽 (CGRP)、亮啡肽 (L EK)及强啡肽 A(Dyn A)含量进行了测定。结果　与对照组 (β- EP40 7.5± 2 5 7.4ng/ L,NPY2 6 .38± 15 .99ng/ L,CGRP110 .10± 49.6 0 ng/ L,SP2 2 7.6 5± 10 9.45 ng/ L,VIP173.0 0± 12 4.75 ng/ L)相比 ,头痛间歇期患者 β- EP降低 (2 39.0± 15 6 .4ng/L,P<0 .0 1) ,NPY升高 (35 .5 5± 17.98ng/ L,P <0 .0 5 ) ;头痛缓解 4天内的患者 CGRP(82 .45± 6 3.5 0 ng/L,P<0 .0 5 )、SP(16 3.95± 95 .90 ng/ L,P<0 .0 5 )、VIP(116 .15± 79.45 ng/ L,P<0 .0 5 )降低。病人组的 L EK与 CGRP含量变化呈正相关 (r=0 .342 6 ,P<0 .0 5 )。结论　感觉、交感及副交感神经系统均参与偏头痛的发病 ,在此过程中有多种与血管舒缩有关的肽类含量改变 ,同时伴有部分内源性阿片肽的相关变化及 β- EP的降低。