scholarly journals Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Matthias Türk ◽  
Armin M. Nagel ◽  
Frank Roemer ◽  
Ursula Schlötzer-Schrehardt ◽  
Christian T. Thiel ◽  
...  
Keyword(s):  
Nervous System ◽  
Case Report ◽  
Late Onset ◽  
Nemaline Myopathy ◽  
Case Presentation ◽  
Unknown Significance ◽  
The Central Nervous System ◽  
The Individual ◽  
Work Up ◽  
Treatable Condition

Abstract Background Camptocormia has been reported in a plethora of diseases comprising disorders of the central nervous system, the peripheral nervous system, and the neuromuscular junction as well as hereditary and acquired myopathies. In sporadic late onset nemaline myopathy concomitant axial myopathy is common, but reports about camptocormia as the only presenting symptom in this condition are very rare. Notably, sporadic late onset nemaline myopathy is a potentially treatable condition in particular when associated with monoclonal gammopathy of unknown significance, HIV or rheumatological disorders. Case presentation We report the case of a 62-year-old female patient, who presented with slowly progressive camptocormia. Comprehensive work-up including neurological work-up, laboratory tests, MR-imaging, muscle biopsy and genetic testing led to the diagnosis of sporadic late onset nemaline myopathy. Conclusions Our case report highlights that sporadic late onset nemaline myopathy has to be considered in patients presenting with isolated camptocormia and comprehensive work-up of camptocormia is mandatory to ascertain the individual diagnosis, especially in consideration of treatable conditions.

scholarly journals Fabry disease causes angiitis of the central nervous system:a case report

2018 ◽  
Author(s):  
De-Zheng Kong ◽  
Ya-Hui Lian ◽  
Lin-Jing Wang ◽  
Chun-Mei Wang ◽  
Yang-Yang Meng ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Fabry Disease ◽  
Treated Patient ◽  
Young Patients ◽  
Vascular Wall ◽  
Black Blood ◽  
Case Presentation ◽  
The Central Nervous System

Abstract Background: Fabry disease is very rare and often delayed in diagnosis. Described herein are Fabry disease causes angiitis of the central nervous system. MRI black blood sequence has a unique advantage in showing vascular wall. It can clearly show the angiitis. Case presentation: A 27-year-old man came to our hospital for treatment because of "diplopia 6d". The patient was eventually diagnosed with Fabry disease causes angiitis of the central nervous system by a series of examinations. Then，we treated patient with hormones and the symptoms relieved. Two months later，the initial vasculitis was gone，but the new vasculitis appeared. Four months later，the last lesion disappeared，but the new lesion appeared. Conclusions: This case prompts the clinician should use MRI black blood sequence scan in time when young patients have repeated strokes and the lesions are migratory. If vasculitis is found and other systemic lesions are combined，we should think of the possibility of Fabry disease.

The Red Neuronal Pigment in the Nervous System of the Mussel, Mytilus Edulis: Localization and Its Effect on Lateral Ciliary Activity with Spectral and Analytical Changes

1981 ◽  
Vol 39 ◽  
pp. 494-495
Author(s):  
Anthony A. Paparo ◽  
Judith A. Murphy
Keyword(s):  
Nervous System ◽  
Mytilus Edulis ◽  
Neuronal Cell ◽  
Ciliary Activity ◽  
Neuronal Cell Bodies ◽  
The Central Nervous System ◽  
Intracellular Organelles ◽  
The Common ◽  
The Individual ◽  
Cryostat Sections

The purpose of this study was to localize the red neuronal pigment in Mytilus edulis and examine its role in the control of lateral ciliary activity in the gill. The visceral ganglia (Vg) in the central nervous system show an over al red pigmentation. Most red pigments examined in squash preps and cryostat sec tions were localized in the neuronal cell bodies and proximal axon regions. Unstained cryostat sections showed highly localized patches of this pigment scattered throughout the cells in the form of dense granular masses about 5-7 um in diameter, with the individual granules ranging from 0.6-1.3 um in diame ter. Tissue stained with Gomori's method for Fe showed bright blue granular masses of about the same size and structure as previously seen in unstained cryostat sections.Thick section microanalysis (Fig.l) confirmed both the localization and presence of Fe in the nerve cell. These nerve cells of the Vg share with other pigmented photosensitive cells the common cytostructural feature of localization of absorbing molecules in intracellular organelles where they are tightly ordered in fine substructures.

An Obscure Colon Dilatation and its Underlying Cause: Case Report and Literature Review

2020 ◽  
pp. 1-5
Author(s):  
Anton Stift ◽  
Kerstin Wimmer ◽  
Felix Harpain ◽  
Katharina Wöran ◽  
Thomas Mang ◽  
...  
Keyword(s):  
Case Report ◽  
Sigmoid Colon ◽  
Immunohistochemical Staining ◽  
Late Onset ◽  
Hirschsprung Disease ◽  
Endoscopic Examination ◽  
Case Presentation ◽  
Idiopathic Megacolon ◽  
History Of ◽  
Cells Of Cajal

Introduction: Congenital as well as acquired diseases may be responsible for the development of a megacolon. In adult patients, Clostridium difficile associated infection as well as late-onset of Morbus Hirschsprung disease are known to cause a megacolon. In addition, malignant as well as benign colorectal strictures may lead to intestinal dilatation. In case of an idiopathic megacolon, the underlying cause remains unclear. Case Presentation: We describe the case of a 44-year-old male patient suffering from a long history of chronic constipation. He presented himself with an obscurely dilated large intestine with bowel loops up to 17 centimeters in diameter. Radiological as well as endoscopic examination gave evidence of a spastic process in the sigmoid colon. The patient was treated with a subtotal colectomy and the intraoperative findings revealed a stenotic stricture in the sigmoid colon. Since the histological examination did not find a conclusive reason for the functional stenosis, an immunohistochemical staining was advised. This showed a decrease in interstitial cells of Cajal (ICC) in the stenotic part of the sigmoid colon. Discussion: This case report describes a patient with an idiopathic megacolon, where the underlying cause remained unclear until an immunohistochemical staining of the stenotic colon showed a substantial decrease of ICCs. Various pathologies leading to a megacolon are reviewed and discussed.

MM-340: Plasma Cell Neoplasm in the Central Nervous System: A Case Report

2021 ◽  
Vol 21 ◽  
pp. S437-S438
Author(s):  
Carine Ribeiro Franzon ◽  
Andressa Oliveira Martin Wagner ◽  
Annelise Correa Wengerkievicz Lopes ◽  
Douglas Gebauer Bona ◽  
Talita Bertazzo Schmitz
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Plasma Cell ◽  
Plasma Cell Neoplasm ◽  
System A ◽  
Cell Neoplasm ◽  
The Central Nervous System

scholarly journals Lymphocytic primary angiitis of the central nervous system with fan-shaped linear enhancement converging to the lateral ventricles: a case report

2014 ◽  
Vol 54 (9) ◽  
pp. 709-714
Author(s):  
Taro Okunomiya ◽  
Takashi Kageyama ◽  
Kanta Tanaka ◽  
Daisuke Kambe ◽  
Akiyo Shinde ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Lateral Ventricles ◽  
Primary Angiitis ◽  
The Central Nervous System

FAMILIAL NONHEMOLYTIC JAUNDICE: BILIRUBINOSIS AND ENCEPHALOPATHY

PEDIATRICS ◽  
1969 ◽  
Vol 43 (3) ◽  
pp. 365-376
Author(s):  
William A. Gardner ◽  
Bruce W. Konigsmark
Keyword(s):  
Nervous System ◽  
Dentate Nucleus ◽  
Late Onset ◽  
Neuronal Loss ◽  
Bile Pigment ◽  
Histopathological Changes ◽  
Older Patient ◽  
Patient Case ◽  
The Central Nervous System ◽  
Original Report

The unique pathological findings of a case of congenital familial hyperbilirubinemia are presented. The patient (Case 3 of Crigler and Najjar's original report), although severely jaundiced, had developed normally without evidence of neurological disease until 15½ years of age. He then developed a progressive neurological deterioration which was clinically similar to infantile kernicterus. At autopsy most of his organs showed extensive intra- and extracellular deposition of bile pigment, particularly the renal papillae, atrial endocardium, intestinal mucosa, Kupffer cells of the liver, and the perivascular adventitia. Although no pigment was found in the central nervous system, there was striking neuronal loss and gliosis of the thalamus. Moderate neuronal loss was found in the putamen, caudate nucleus, dentate nucleus, and red nuclei. No histopathological changes were found in the hippocampus or cerebral cortex. It is suggested that the patient suffered from a late onset of "kernicterus" with involvement, in this older patient, of regions of the nervous system somewhat different from those in infantile kernicterus.

Intrasellar Paraganglioma with Suprasellar Extension: Case Report

1998 ◽  
Vol 84 (3) ◽  
pp. 408-411 ◽  
Author(s):  
Maria Laura Del Basso De Caro ◽  
Antonella Siciliano ◽  
Paolo Cappabianca ◽  
Alessandra Alfieri ◽  
Enrico de Divitiis
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Pelvic Floor ◽  
The Body ◽  
Benign Tumors ◽  
Sellar Region ◽  
The Central Nervous System ◽  
Base Of The Skull ◽  
Suprasellar Extension

Paragangliomas are usually benign tumors which can be found in many sites of the body, from the base of the skull down to the pelvic floor. In the central nervous system the sellar region is very rarely involved; only three well studied cases have been reported to date. We present the cytological, histological, histochemical, immunocytochemical and ultrastructural features of an intrasellar and suprasellar paraganglioma in an 84-year-old man.

scholarly journals Foot Drop due to Central cause – A Case Report on Bilateral Parasagittal Meningioma

2014 ◽  
Vol 4 (1) ◽  
pp. 52-55
Author(s):  
R Habib ◽  
SB Mizan ◽  
A Rahman ◽  
NB Bhowmik ◽  
A Haque
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Pyramidal Tract ◽  
Foot Drop ◽  
Nerve Lesion ◽  
Drop Foot ◽  
Peripheral Nerve Lesion ◽  
The Central Nervous System ◽  
Parasagittal Meningioma

Most clinicians consider a peripheral nerve lesion in patients with drop foot. However, causes stemming from the central nervous system represent rare, important, and underappreciated differential etiologies. Central causative lesions usually occur at locations where pyramidal tract connections are condensed and specific and the function is somatotopically organized. Here we report case presenting as central foot drop or spastic foot-drop and other myriad clinical features which after investigations was found due to bilateral parasagittal meningiomas. DOI: http://dx.doi.org/10.3329/birdem.v4i1.18559 Birdem Med J 2014; 4(1): 52-55

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