scholarly journals Oculocerebrocutaneous Syndrome (Delleman Syndrome): A Case with a Novel Presentation of Orbital Involvement

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Mahbobeh Bahmani ◽  
Razieh Naseri ◽  
Alireza Iraniparast ◽  
Raya Mokhtari ◽  
Seyed Hamed Jafari
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Brain Mri ◽  
Cerebellar Hemisphere ◽  
Solid Mass ◽  
Resonance Imaging ◽  
Orbital Cavity ◽  
Orbital Content ◽  
Pediatric Neurologist ◽  
The Right

Oculocerebrocutaneous syndrome (OCCS), also known as Delleman syndrome (DS), is a rare congenital anomaly featuring focal skin defects, orbital anomalies, and central nervous system malformations. Diagnosis of Delleman syndrome is based on the triad of eye, central nervous system (CNS), and cutaneous defects and confirmed by magnetic resonance imaging. A 23-day-old girl was referred to our department for brain imaging. The infant had multiple cutaneous appendages on the right side of her face. There also was a fleshy mass measuring about 12 mm over her right eye. Brain MRI demonstrated the evidence of colpocephaly, agenesis of the corpus callosum, nodular subependymal heterotopias adjacent to the right lateral ventricle, aplasia of the cerebellar vermis, hypoplasia of the right cerebellar hemisphere, and widening of CSF space in the posterior fossa. There was also an exophytic skin lesion on her right cheek, measuring about 13 × 12 mm in size. In the orbital MRI, there was a mixed cystic solid mass measuring about 25 × 20 mm in her right orbital cavity. The orbital content was abnormal and suggestive of rudimentary orbit. Considering the findings, diagnosis of oculocerebrocutaneous syndrome (Delleman syndrome) was established for the patient. Because of the variations in orbital and CNS manifestations, all patients with clinical suspicion of DS should be assessed by brain and orbital MRI and managed by a pediatric neurologist and ophthalmologist.

scholarly journals Malignant Solitary Fibrous Tumor of the Right Cerebellum: A Case Report

2021 ◽  
Vol 13 (1) ◽  
pp. 259-266
Author(s):  
Ye-Tao Zhu ◽  
Yang Liu ◽  
Li-Gang Chen ◽  
Da-Ping Song
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Solitary Fibrous Tumor ◽  
Immunohistochemical Staining ◽  
Biological Behavior ◽  
Resonance Imaging ◽  
Solitary Fibrous Tumors ◽  
The Central Nervous System ◽  
Fibrous Tumor ◽  
The Right

Solitary fibrous tumor is a very rare mesenchymal tumor that occurs mostly in the pleura, and there are few reported cases of a presence in the central nervous system, particularly in the cerebellum. In 2016, the WHO classified solitary fibrous tumors into grade I. In this article, we present a case of malignant solitary fibrous tumor recurring 8 years after surgery in a 63-year-old male. Magnetic resonance imaging showed low to intermediate mixed signal intensity on T1W1. Immunohistochemical staining positivity for Vimentin, CD99, CD34 and Bcl-2, it is consistent with the immunohistochemical characteristics of solitary fibrous tumor. We resected the patient’s tumor, and the patient was followed up for 3 months with no signs of recurrence. Solitary fibrous tumors are very rare in the central nervous system. Immunohistochemical staining positivity for CD34 and Bcl-2 is strongly expressed in most solitary fibrous tumor. Surgical resection is the preferred treatment. Due to the small number of cases, the biological behavior and prognosis of this tumor need to be further explored.

Onset of progressive motor impairment in patients with critical central nervous system demyelinating lesions

2020 ◽  
pp. 135245852094098
Author(s):  
Roman M Kassa ◽  
Elia Sechi ◽  
Eoin P Flanagan ◽  
Timothy J Kaufmann ◽  
Orhun H Kantarci ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Brain Mri ◽  
Age At Onset ◽  
Motor Impairment ◽  
Resonance Imaging ◽  
Total Brain ◽  
Demyelinating Lesions ◽  
Magnetic Resonance Imaging Mri ◽  
Brain And Spinal Cord

Objective: To compare progressive motor impairment onset attributable to a “critical” central nervous system (CNS) demyelinating lesion in patients with highly restricted versus unlimited magnetic resonance imaging (MRI) lesion burden. Methods: We identified 135 patients with progressive motor impairment for ⩾1 year attributable to a “critical” demyelinating lesion with: MRI burden of 1 lesion (“progressive solitary sclerosis”), 2–5 lesions (“progressive paucisclerosis”), or unrestricted (>5) lesions and “progressive unilateral hemiparesis.” Neuroradiology review of brain and spinal cord MRI documented unequivocally demyelinating lesions. Results: A total of 33 (24.4%) patients had progressive solitary sclerosis; 56 (41.5%) patients had progressive paucisclerosis; and 46 (34.1%) patients had progressive unilateral hemiparesis. Median age at onset of progressive motor impairment was younger in progressive solitary sclerosis (49 years; range 24–73) and progressive paucisclerosis (50 years; range 30–64) than in progressive unilateral hemiparesis (54 years; range 39–77; p = 0.02 and p = 0.003, respectively). Within progressive unilateral hemiparesis, motor-progression onset was similar between those with 4–10, 11–20, or >20 brain lesions (55, 54, 53 years of age, respectively; p = 0.44). Conclusion: Motor-progression age is similar, but paradoxically earlier, in cohorts with highly restricted CNS lesion burden than in those with unrestricted lesion burden with progressive unilateral hemiparetic MS. The “critical” demyelinating lesion rather than total brain MRI lesion burden is the major contributor to motor-progression onset in these cohorts.

Direct Intratumoral Pre-surgical Embolization of Orbital Hemangioblastoma

2008 ◽  
Vol 21 (5) ◽  
pp. 693-697 ◽  
Author(s):  
Y.-M. Wu ◽  
H.-F. Wong ◽  
S.H. Ng
Keyword(s):  
Computed Tomography ◽  
Central Nervous System ◽  
Nervous System ◽  
Satisfactory Result ◽  
Visual Loss ◽  
Surgical Intervention ◽  
Preoperative Embolization ◽  
Solid Mass ◽  
Large Size ◽  
The Right

Orbital hemangioblastomas of extraretinal origin are extremely rare and few cases have been reported. We describe a 48-year-old woman with progressive right visual loss and proptosis. Computed tomography showed an avidly enhanced transpatial solid mass in the right orbit with outward protrusion. The mass was presumed to be of extraretinal origin because of its unusually large size, but there was only mild involvement of the eyeball. The histopathologic characteristics of this tumor were identical to those seen in central nervous system hemangioblastomas. The hypervascularity of the lesion would have made surgical intervention difficult. Preoperative embolization was indicated and was performed by direct tumor puncture and injection of N-butyl cyanoacrylate with a satisfactory result.

scholarly journals Ataxia as the main manifestation of tumor-like primary angiitis of the central nervous system: a case report and literature review

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Yu-Jing Huang ◽  
Li Zhang ◽  
Ying Mao ◽  
Guang-Xian Nan
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Glucocorticoid Therapy ◽  
Cerebellar Hemisphere ◽  
Case Presentation ◽  
System A ◽  
Intravenous Drip ◽  
Primary Angiitis ◽  
The Central Nervous System ◽  
The Right

Abstract Background Primary angiitis of the central nervous system (PACNS) is a rare disease, and tumor-like primary angiitis of the central nervous system is even rarer. Histopathology is the gold standard for tumor-mimicking PACNS. However, pathological diagnosis is relatively limited due to fewer biopsy opportunities. Case presentation A 68-year-old male presented with ataxia, and was diagnosed with tumor-like primary angiitis of the central nervous system. The patient underwent Intravenous drip glucocorticoid therapy (10 mg of dexamethasone, daily). After 10 days, the symptoms of the patient were completely relieved. Radiology revealed that the low density lesion in the right cerebellar hemisphere obviously narrowed. Cyclophosphamide therapy was not initiated. Conclusion It is crucial for clinicians to be aware of changes in radiology that indicate PACNS, since the diagnosis of tumor-like PACNS remains quite challenging. Glucocorticoid therapy is an effective therapy in this condition, and the prognosis can be favorable.

Characteristic brain magnetic resonance imaging abnormalities in central nervous system aquaporin-4 autoimmunity

2010 ◽  
Vol 16 (10) ◽  
pp. 1229-1236 ◽  
Author(s):  
Woojun Kim ◽  
Min Su Park ◽  
Sang Hyun Lee ◽  
Su-Hyun Kim ◽  
In Ja Jung ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Central Nervous System ◽  
Nervous System ◽  
Magnetic Resonance ◽  
Neuromyelitis Optica ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Aquaporin 4 ◽  
Resonance Imaging ◽  
Brain Involvement

Background: Although neuromyelitis optica has been traditionally regarded as a disease without brain involvement, brain abnormalities are not uncommon in patients with neuromyelitis optica-related disorders. Methods: We aimed to characterize the brain magnetic resonance imaging (MRI) abnormalities in neuromyelitis optica spectrum disorder patients who are seropositive for anti-aquaporin-4 autoantibody (AQP4 Ab). Of 236 consecutive patients with inflammatory demyelinating central nervous system diseases, we retrospectively analyzed MRI characteristics of 78 patients who were seropositive for AQP4 Ab. Results: For an average observational period of 6.3 years, 62 patients (79%) had brain lesions on MRI. Twenty-four patients (31%) had brain MRI abnormalities at the onset of disease, and 35 (45%) had symptomatic brain involvement. Characteristic brain MRI abnormalities were classified into five categories: (1) lesions involving corticospinal tracts (e.g. posterior limb of internal capsule and cerebral peduncle (44%); (2) extensive hemispheric lesions likely due to vasogenic edema (29%); (3) periependymal lesions surrounding aqueduct and the third and fourth ventricles (22%); (4) periependymal lesions surrounding lateral ventricles (40%); and (5) medullary lesions, often contiguous with cervical lesions (31%). Fifty-four patients (69%) showed at least one kind of brain abnormality among the five characteristic MRI lesions. Ten patients showed gadolinium-enhancing lesions, which were characterized by multiple patchy enhancing patterns with blurred margins. Conclusions: In central nervous system AQP4 autoimmunity, brain MRI abnormalities were more common than is generally appreciated and were characterized by their unique localization and configuration.

scholarly journals Brachial Plexopathy from Metaldehyde Poisoning – A Case Report

2021 ◽  
Vol 26 (4) ◽  
pp. 839-843
Author(s):  
See-Teng Tan ◽  
Guanglin Chen ◽  
Wai Ching, Deanna Lee ◽  
You-Jiang Tan
Keyword(s):  
Magnetic Resonance Imaging ◽  
Central Nervous System ◽  
Nervous System ◽  
Medical Literature ◽  
Subsequent Development ◽  
Brachial Plexopathy ◽  
Resonance Imaging ◽  
Sensorimotor Deficits ◽  
The Central Nervous System ◽  
The Right

We describe the case of a middle-aged female with schizophrenia, who developed acute sensorimotor deficits of the right upper limb within a week of ingesting large amounts of metaldehyde in a suicide attempt. A right-sided brachial plexopathy was diagnosed clinically and supported by electrophysiologic assessments and targeted magnetic resonance imaging scans. Although metaldehyde’s neurotoxicity typically affects the central nervous system, focal involvement of the peripheral nervous system remains unreported in medical literature, and its pathogenic processes await further elucidation. Therefore, we recommend the continued observation for the subsequent development of sensorimotor deficits during the first week of metaldehyde poisoning.

scholarly journals Fetal brain MRI: how it added to ultrasound diagnosis of fetal CNS anomalies-1 year experience

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Mariam Raafat ◽  
Mahmoud Alalfy ◽  
Omar Nagy ◽  
Samira Saraya
Keyword(s):  
Magnetic Resonance Imaging ◽  
Central Nervous System ◽  
Nervous System ◽  
Magnetic Resonance ◽  
Brain Mri ◽  
Fetal Brain ◽  
Ultrasound Finding ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Cns Anomalies

Abstract Background Central nervous system (CNS) anomalies are the most commonly diagnosed abnormalities of all fetal malformations and are usually primarily discovered on routine prenatal ultrasonography (US). Fetal magnetic resonance imaging (MRI) is a non-invasive technology with high soft tissue contrast that is documented to increase the diagnostic accuracy for detection of fetal brain anomalies. The aim of our study is to analyze the value of adding magnetic resonance imaging (MRI) of the fetal brain to antenatal ultrasound in the diagnosis of fetal central nervous system (CNS) anomalies. Results We diagnosed various CNS anomalies including twelve cases with infra- and supra-tentorial arachnoid cysts, six cases had Dandy-Walker malformation (DWM) and its variants, 1 case with mega cisterna magna, 2 cases of holoprosencephaly, 1 case of hydranencephaly, 2 cases with supratentorial hydrocephalus, 1 case of craniopharyngioma, 6 cases with corpus callosum (CC) agenesis, 1 case of extradural hematoma, and 8 cases with Meckel-Gruber syndrome (MGS). MRI diagnosis confirmed the ultrasound finding, without additional information in 23 cases (57.5%%), added an extra finding in 11 cases (27.5%), differentiated between 2 pathologies in 3 cases (7.5%), and changed the diagnosis in 3 cases (7.5 %). The 40 pregnancies resulted in 27 births (67.5%), 2 died directly after birth (5%), 7 terminations (17.5%), and 4 intrauterine fetal deaths (IUFD) (10 %). Conclusion Ultrasound is the gold standard imaging modality for anomaly scan in the second and third trimesters; however, MRI of the fetal brain might be a clinically valuable complement especially when ultrasound examination is inconclusive due to maternal obesity, severe oligohydramnios, or in complicated cases with unclear diagnosis.

scholarly journals Acute exudative polymorphous paraneoplastic vitelliform maculopathy (AEPPVM) associated with choroidal melanoma

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Aluisio Rosa Gameiro Filho ◽  
Guilherme Sturzeneker ◽  
Ever Ernesto Caso Rodriguez ◽  
André Maia ◽  
Melina Correia Morales ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Serous Retinal Detachment ◽  
Central Nervous System Involvement ◽  
Choroidal Melanoma ◽  
Posterior Pole ◽  
Pancreatic Metastasis ◽  
Small Areas ◽  
History Of ◽  
The Right

Abstract Background To report a case of acute exudative polymorphous paraneoplastic vitelliform maculopathy in a patient with a history of choroidal melanoma, with metastases to the pancreas, liver, and central nervous system. Case presentation A 63-year-old patient, with a history of enucleation of the right eye due to choroidal melanoma, complained of progressive visual loss during a follow-up visit. Fundoscopic examination revealed multiple small areas of serous retinal detachment scattered throughout the posterior pole and ancillary tests confirmed the diagnosis of acute exudative polymorphous paraneoplastic vitelliform maculopathy (AEPPVM). Screening for systemic metastases showed pancreatic, hepatic, and central nervous system involvement. Conclusions We describe a rare case of acute exudative polymorphous paraneoplastic vitelliform maculopathy, which should be considered in patients with or without a history of melanoma, who have vitelliform retinal detachments. Nevertheless, no previous reviews of literature have shown a correlation between AEPPVM and pancreatic metastasis.

scholarly journals RARE-29. PRIMARY CENTRAL NERVOUS SYSTEM NON-HODGKIN LYMPHOMA IN AN 11-YEAR-OLD BOY: A CASE REPORT

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii448-iii448
Author(s):  
Jorge Luis Ramírez-Melo ◽  
Regina M Navarro-Martin del Campo ◽  
Manuel D Martinez-Albarran ◽  
Fernando Sánchez-Zubieta ◽  
Ana L Orozco-Alvarado ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hodgkin Lymphoma ◽  
Central Nervous System Lymphoma ◽  
Complete Response ◽  
High Dose ◽  
Illustrative Case ◽  
Tumor Biopsy ◽  
Non Hodgkin Lymphoma ◽  
The Right

Abstract BACKGROUND Primary central nervous system lymphoma (PCNSL) are very rare in children. CLINICAL CASE: An 11-year-old male presented with a 2 months history with myoclonic movements in the upper right limb, and a sudden frontal headache, gait disturbance due to right hemiparesis and an ipsilateral convulsive episode. Upon admission he had critical condition, with hypertensive skull syndrome, Glasgow of 12, Karnofsky 40%, right hemiparesis, swallowing disorder, facial paralysis, and loss of photo motor reflex and unilateral amaurosis. A CT and MRI showed a huge tumor mass in the left tempo-parietal region, infiltrating the white matter and shifting the midline. A Tumor biopsy was done, and reported diffuse small cell non-Hodgkin lymphoma of high-grade, Burkitt type. Systemic lymphoma workup was negative. He received six cycles of chemotherapy based on high dose methotrexate, rituximab and triple intrathecal.After the second cycle an ophthalmologic evaluation was done, and found infiltration to the right retina, for which 6 cycles of intra vitreous chemotherapy with methotrexate were applied, he showed an excellent response, and recovered all his neurological functions except that right hemianopia persist. Control MRI showed partial response at 2nd cycle and complete response after the 4th cycle. No Radiation was performed. CONCLUSION This report highlights the fact that pediatric PCNSL may be effectively treated by a combination of HDMTX and rituximab-based chemoimmunotherapy without irradiation. Lack of awareness of this rare entity may lead to extense resections of brain, and potential permanent secuelae that were avoided in this illustrative case.

Primary Central Nervous System Lymphoma Mimicking Longitudinally Extensive Transverse Myelitis

2020 ◽  
pp. 194187442096756
Author(s):  
Prashant Anegondi Natteru ◽  
Shashank Shekhar ◽  
Lakshmi Ramachandran Nair ◽  
Hartmut Uschmann
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
B Cell ◽  
Cell Lymphoma ◽  
Central Nervous System Lymphoma ◽  
B Cell Lymphoma ◽  
Oligoclonal Bands ◽  
Relative Reduction ◽  
Thalamic Lesion ◽  
The Right

Primary central nervous system lymphoma (PCNSL) is an uncommon variant of extra-nodal non-Hodgkin’s lymphoma. Three regions can be involved in PCNSL: the brain, the spine, or the vitreus and retina. Spinal PCNSL is rare. It can mimic neoplasm, infection, and inflammation. Diagnostic confirmation is by tissue biopsy, and even then, tissue corroboration may be altered by an inflammatory overlay. We report a 59-year-old woman who we saw after she had 4 weeks of ascending tetraparesis plus bowel and bladder incontinence. Upon presentation, the patient was ventilator-dependent and locked-in. She reported normal sensation through eye-blinking. Magnetic resonance imaging (MRI) brain revealed signal intensity in the bilateral corona radiata and restricted diffusion in the right thalamus, whereas, MRI cervical, and thoracic spine showed T2 prolongation in the anterior medulla and upper cervical cord, with enhancement to C2-C3, and long segment hyperintensity from T1-T9 levels, respectively, suggestive of neuromyelitis optica spectrum disorder. Cerebrospinal fluid cytomorphology and flow cytometry were inconclusive for lymphoma/leukemia, but oligoclonal bands were present. Serum aquaporin-4 (AQP-4) antibodies were negative. MR spectroscopy demonstrated NAA reduction, mild lipid lactate peak, and relative reduction of choline on the side of the lesion, favoring demyelination. She received 5-days of intravenous methylprednisolone, followed by 7 sessions of plasma exchange without clinical improvement. Stereotactic biopsy of the right thalamic lesion revealed diffuse large B-cell lymphoma. PCNSL can mimic a demyelinating process early on, as steroid treatment could disrupt B-cell lymphoma cells, thus masking the correct diagnosis.

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