Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the Notch3 gene on chromosome 19. The condition manifests itself clinically typically in the third to fifth decade with migraine and recurrent episodes of stroke or transient ischaemic attacks. We report the case of an 11-year-old male with CADASIL resulting in stroke with right hemiparesis and dysphasia. Acute magnetic resonance imaging suggested infarction in the left hemisphere; magnetic resonance angiography revealed calibre variation of the intracerebral arteries. The patient suffered from common migraine with five to six attacks per month for 3 years 6 months before the stroke. Attacks occurred early in the morning with severe one-sided headache, photophobia, nausea, and vomiting. Antimigraine medications had no effect. The family history revealed more cases of CADASIL, with an autosomal dominant pattern. The diagnosis of CADASIL was confirmed by the finding of the known mutation of the Notch3 gene running in the family. With treatment in a neurorehabilitation centre the patient recovered most of his functions with only discrete fine-motor and cognitive sequelae. Our case report highlights the need for paediatricians to consider CADASIL in childhood stroke as well as in migraine patients.     

Hemorrhagic stroke associated with essential thrombocythemia: Case report and literature review

Hemorrhagic stroke associated with essential thrombocythemia (ET) is very infrequent. Herein, we report a case of a 33-year-old woman with a 2-year history of ET who developed intracerebral and subarachnoid hemorrhage. Angiography demonstrated severe vessel irregularity in the bilateral cerebral arteries. Molecular genetic testing revealed a calreticulin mutation. To our knowledge, hemorrhagic stroke has been reported in only six other patients with ET, and this is the first report of hemorrhagic stroke in an ET patient with a calreticulin mutation. We review the current literature and discuss the possible underlying mechanisms.     

Wegener's granulomatosis of the paranasal sinuses with orbital and central nervous system involvement-diagnostic imaging

Wegener's granulomatosis (WG) is a systemic vasculitis that can affect any organic system, but primarily involves the upper and lower respiratory tracts and the kidneys. WG relatively frequently affects the nervous system (in 30-50%), usually in the form of peripheral or cranial neuropathy. Involvement of the brain is reported in a very small percentage of patients (2%-8%). Three major mechanisms have been described as the cause of central nervous system (CNS) disease in WG: contiguous invasion of granuloma from extracranial sites, remote intracranial granuloma and CNS vasculitis. CNS involvement caused by contiguous invasion of granuloma from extracranial sites is the rarest. We report the case of a 37-year-old man with WG, manifested as a pulmonary and paranasal sinuses disease, with orbital and CNS involvement, caused by contiguous invasion from the paranasal sinuses. In this report, the rich spectrum of findings achieved by computed tomography and magnetic resonance are demonstrated. The importance of computed tomography in bony destruction PNS findings, and the importance of MR imaging in evaluation of the direct intracranial spread from nasal, paranasal and orbital disease are also emphasized.     

Moyamoya and extracranial vascular involvement: fibromuscular dysplasia? A report of two children

We present two patients with moyamoya syndrome and the unusual involvement of extracranial vessels. The first case illustrates the rare association between moyamoya and primary pulmonary hypertension. In the second patient, moyamoya was complicated by stenoses of vertebral, renal, and mesenteric arteries. In both cases, a systemic intima-proliferative disease, such as fibromuscular dysplasia (FMD), was suspected to be the cause of both intracranial and extracranial arterial disease.     

A case of rheumatoid meningitis: pathologic and magnetic resonance imaging findings

Central nervous system (CNS) involvement is extremely rare in patients with rheumatoid arthritis (RA). Additionally, most patients with CNS involvement have chronic and severe RA. We present a report of a 66-year-old man who was diagnosed with rheumatoid meningitis and CNS vasculitis without a history of RA. His initial symptom was seizure. Brain magnetic resonance imaging showed leptomeningeal enhancement.CSF analysis revealed slight increase in the number of white blood cells. An examination of viral markers and culture studies for infectious etiology were unremarkable. However, the rheumatoid factor was positive and the levels of anti-cyclic citrullinated peptide antibody were very high. The patient was diagnosed with rheumatoid meningitis and received steroid therapy. However, he developed CNS vasculitis. We suggested that the possibility of rheumatoid meningitis should be considered during the differential diagnosis stage in patients with uncontrolled meningitis, even though RA does not typically show CNS involvement.     

Extracranial Plasma Cell Granuloma Presenting as a Diffuse Meningeal and lntraparenchymal Mass

Plasma cell granuloma (PCG) is uncommon, characterized by polyclonal proliferation of mature plasma cells, usually within systemic organs. Only four previous cases have involved the central nervous system (CNS). This is the first reported case of an extracranial PCG and secondary involvement of the brain and meninges. Magnetic resonance imaging (MRI) disclosed a diffuse, enhancing meningeal process infiltrating the underlying brain, causing severe swelling and edema, consistent with an inflammatory, infectious, or neoplastic etiology. Examination of temporal dural biopsy specimen demonstrated PCG, consistent with the patient's original tumor. Following dexamethasone and radiation therapy, MRI and neurological findings normalized.     

Primary angiitis of the central nervous system with diffuse cerebral mass effect and giant cells

Primary angiitis of the central nervous system (PACNS), also called primary CNS vasculitis, is an idiopathic inflammatory condition affecting only intracranial and spinal cord vessels, particularly medium-sized and smaller arteries and arterioles. Angiography and histopathology typically do not reveal evidence of systemic vasculitis.[1], [2] Histopathology usually reveals granulomatous inflammation affecting arterioles and small arteries of the parenchyma and/or leptomeninges, similar to that seen in Takayasu’s or giant cell arteritis.[1], [2], [3] We report a patient with biopsy-proven PACNS with giant cells and cerebral mass effect on MRI. Magnetic resonance angiography and cerebral angiography appeared normal and there was no evidence of extracranial vasculitis.     

Chronic inflammatory demyelinating polyradiculoneuropathy associated with central nervous system involvement--as compared to multiple sclerosis

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with central nervous system (CNS) demyelinating lesions has recently been reported to mimic multiple sclerosis (MS). In this paper, a series of patients with CIDP were examined to see if they had CNS involvement. CIDP patients with CNS lesions were then compared to patients with MS with peripheral nervous system (PNS) involvement for similarities. CNS and PNS involvement were detected by clinical symptoms, neurological findings, neuro-otological and neuro-ophthalmological tests, electrophysiological examinations such as electroencephalography, evoked potentials, blink reflex, conventional peripheral nerve conduction studies and electromyography, as well as computed tomography and magnetic resonance imaging (MRI). There were 7 of 17 CIDP patients with CNS involvement, but only 2 of 59 MS patients with PNS lesions were found. The rate of CIDP with CNS involvement (41.2%) was higher than that of MS with PNS lesions (3.4%). The CNS signs and symptoms of 7 CIDP patients were not so constant as their PNS symptoms, and consisted of 1 case with optic neuritis, 4 cases with cerebellar atxia and/or nystagmus, and 3 cases with spinal symptoms. These signs and symptoms are all well known in MS. Prolonged latencies on evoked potentials and high signal white matter lesions on T2 weighted MRI, indicating demyelinating CNS lesions were also similar to those found in MS. The CNS involvement in those patients with CIDP was therefore similar in character to those found in MS, but was far less severe than the PNS finding.(ABSTRACT TRUNCATED AT 250 WORDS)     

Migraine with vasospasm and delayed intracerebral hemorrhage

Three women with well-documented migraine associated with intracerebral hemorrhage are described. In each case, migraine headaches began during adulthood. Unusually severe and protracted headache heralded the onset of fixed neurological deficits associated with lobar intracerebral hemorrhage. Striking carotid artery tenderness was characteristic. Except for a history of migraine, no cause for intracerebral hemorrhage could be established. In each case arteriography showed extensive spasm of the appropriate extracranial or intracranial artery. Surgical pathology following evacuation of two hematomata demonstrated signs of vessel wall necrosis associated with subacute inflammatory changes. Vasospasm associated with severe migraine attacks may result in ischemia of intracranial vessel walls, leading to necrosis and subsequent vessel rupture when perfusion pressure is restored.     

Genetically confirmed spinal muscular atrophy type III with epilepsy, cerebral hypoperfusion, and parahippocampal gyrus atrophy]

We report a 37-year-old female with spinal muscular atrophy (SMA) type III and central nervous system (CNS) involvement. She showed gait disturbance at the age of 12 years, and difficulty of squatting at the age of 19. On examination at the age of 22, she had proximal muscle weakness and atrophy, fasciculation, normal sensory system and elevated creatine kinase in the serum. She was diagnosed as having SMA type III based on clinical, electrophysiological, and muscle biopsy findings. She suffered from subacute necrotizing lymphadenitis at the age of 23 and from epilepsy at the age of 33. Magnetic resonance imaging showed atrophy of parahippocampal gyrus with right side predominance. Single photon emission computed tomography (SPECT) using I123-IMP showed decreased accumulations of I123-IMP in the temporal lobes with left side predominance. Electroencephalogram showed theta wave without epileptic burst. SMA gene analysis revealed deletion of exon 7 and 8 in survival motor neuron (SMN) gene. A few patients with SMA and CNS involvement have been reported without genetic diagnosis. This is the first report of genetically confirmed SMA patient with CNS involvement. SMN gene is distributed not only in spinal cord but also in brain. The CNS involvement detected in this patient may be related to the loss of SMN gene function, although coincidental association of SMA and the CNS abnormalities is still considered in this atypical case.     

Rosai‐Dorfman Disease with Massive Intracranial Involvement: Asymmetric Response to Conservative Therapy

Rosai‐Dorfman Disease (RDD) is a rare, idiopathic lymphoproliferative disorder. Central nervous system (CNS) involvement in this disorder is an uncommon manifestation. The clinical and radiographic appearance of CNS RDD is variable, and may mimic more common diseases. Treatment is controversial, and spontaneous remission is common. Positive outcomes have been reported with radiation therapy, or corticosteroid administration, or surgical excision. Our case is unusual in that the extracranial sites of involvement responded to corticosteroid therapy while the intracranial masses progressed.     

Chronic inflammatory demyelinating polyradiculoneuropathy with histologically proven optic neuritis

Although patient series of clinical, electrophysiological, or magnetic resonance imaging evidence for involvement of the central nervous system in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) have been published, the histological proof has never been reported. We present the case of a 46-year-old male patient who developed CIDP in his early 20s and who died of relapsing severe pneumonia. In late stages of the disease the patient presented visual loss and bilateral atrophy of the optic nerve. Neuropathological examination revealed severe peripheral neuropathy consistent with CIDP and central involvement with bilateral optic neuritis. This is the first case reporting CIDP and histologically proven optic neuritis.     

Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency

We present a case of late-onset acid maltase deficiency (AMD) with pronounced involvement of the liver and skeletal muscles. In addition, and in contrast to other adult cases of AMD, the case presented here shows CNS pathology with hypodense and hyperintense white matter areas on CT and MRI scans, and myelin changes ranging from focal areas of demyelination to necrosis. Neuropathologic changes seem to be related to unusual vascular pathology consisting of vacuolar degeneration of small and large arterial blood vessels. Vacuoles of varying size, partly filled with granular PAS-positive material, were found in pericytes and smooth muscle cells of arterial vessel walls. Electron microscopy revealed lysosomal and cytoplasmic free glycogen in smooth muscle cells in the intima of large cerebral arteries as well as in pericytes of arterioles and capillaries. Accumulation of glycogen locally was associated with severe cellular damage and necrosis. The formation of a great number of small aneurysms of intracerebral arteries is thought to be the result of cell damage in the vessel walls.     

Two cases of rheumatoid meningitis

Central nervous system (CNS) involvement by rheumatoid arthritis (RA) in the form of rheumatoid meningitis (RM) is rare and most commonly occurs in the setting of longstanding severe RA. Due to a wide range of clinical presentations and nonspecific laboratory findings, it presents a diagnostic challenge often requiring brain biopsy. Only a few histopathologically confirmed cases have been described in the literature. Our aim is to describe two cases of RM and review the literature. The first case is of a previously healthy 37‐year‐old man who presented with severe headaches and focal neurologic deficits. Magnetic resonance imaging demonstrated abnormal leptomeningeal enhancement in the left frontal and parietal sulci. The second case is of a 62‐year‐old woman with a history of mild chronic joint pain who presented with confusion, personality changes and seizures. Both patients ultimately underwent brain biopsy which demonstrated RM on pathologic examination. Administration of corticosteroids resulted in significant clinical improvement in both cases. To our knowledge, our unusual case of RM in the young man is the fifth reported case of rheumatoid meningitis in a patient with no prior history of RA. Such an atypical presentation makes diagnosis even more difficult and highlights the need for awareness of this entity in the diagnostic consideration of a patient presenting with unexplained neurologic symptoms. Our literature review underscores the clinical and pathologic heterogeneity of CNS involvement in RA.     

脑分水岭梗死的颅内外血管病变的影像学研究

目的 通过观察脑分水岭梗死的影像学表现研究其颅内外血管病变特征.方法 收集上海市杨浦Ⅸ中心医院神经内科自2006年3月至2007年3月收治的29例均经DSA检查且影像学表现为分水岭梗死患者的影像学资料,对其血管病变因素进行回顾性分析.结果 在29例表现为分水岭梗死的患者中,DSA提示18例患者存在大脑中动脉病变,6例存在颈内动脉病变.结论 颅内外大动脉病变为脑分水岭梗死的主要发病机制之一,主要表现为大脑中动脉及颈内动脉病变.     

A case of Epstein‐Barr virus associated post‐transplant lymphoproliferative disorder with CNS involvement: pathological findings at both biopsy and autopsy

Post‐transplant lymphoproliferative disorder (PTLD) with CNS involvement is an uncommon and fatal side effect of immunosuppressants. A 55‐year‐old man presented with non‐fluent aphasia, fever, neck stiffness and disturbance of consciousness. Twenty‐one years previously, the patient had undergone kidney transplantation for chronic renal failure. Brain MRI revealed multiple lesions in the bilateral cerebrum, right cerebellum and medulla oblongata. The brain biopsy showed EBV‐positive lymphocytes infiltrating into the subarachnoid and Virchow‐Robins space. The diagnosis of PTLD was made and the patient received a reduction in immunosuppressants. However, the patient died of massive bleeding from a rectal ulcer 3 months after the onset. An autopsy conducted 1 month after the biopsy revealed a diffuse large B‐cell lymphoma at the biopsy site and extracranial PTLD lesions. Moreover, a human cytomegalovirus infection involving the rectum, pancreas, trachea and bladder was confirmed. Comparisons with past cases clarified the characteristics of this case, in particular, the clinicopathological involvement of leptomeninges. In addition, there have so far been only a limited number of such reports demonstrating detailed pathological findings, including both biopsy and autopsy findings. We herein describe the relationship between clinical and pathological findings and demonstrate the way CNS PTLD lesion progresses.     

Congenital Muscular Dystrophy with Cerebellar Atrophy

Congenital muscular dystrophy (CMD) is a disorder which usually presents at birth with skeletal muscle dysfunction. Cases have been described with associated severe central nervous system (CNS) abnormalities, but usually the condition proceeds without CNS impairment, particularly in less severe cases. A 25-year-old patient is described with clinical and pathological features of CMD accompanied by cerebellar dysfunction, most likely the result of cerebellar atrophy. This patient is thought to have a benign variety of CMD with CNS involvement, and this report stresses the fact that CMD can be associated with minimal CNS abnormalities and have a benign course.