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Cerebrotendinous xanthomatosis with oromandibular dyskinesia
Bordia S,Saifee A
Neurology India , 2003,
Abstract: We present an unusual case of cerebrotendinous xanthomatosis in a female elderly patient with recurrent TM joint dislocation and oromandibular dyskinesia.
Cerebrotendinous Xanthomatosis In A Family  [cached]
Chatterjee Gobinda,Chakraborty Indranil,Kanti Das Tushar,Datta Chhanda
Indian Journal of Dermatology , 1999,
Abstract: A family consisting of a brother (11 years) and his twin sisters (13 years) with cerebrotendinous xanthomatosis is presented. The brother had bilateral achilles tendon xanthoma, low intelligence, poor memory with early cerebellar signs. The sisters had bilateral juvenile cataracts in addition to Achilles tendon xanthomas. The serum cholosterol level in all the three was within normal limits. The FNAC and histopathology of tendinous swelling showed touton giant cells and foam cells. A diagnosis of cerebro- tendinous xanthomatosis was made on the basis of Achilles tendon xanthomas, bilateral cataracts and normal serum cholesterol.
Case Report: Cerebrotendinous xanthomatosis
Karandikar Amit,Pushparajan S,Unni Madhavan,Srinivas R
Indian Journal of Radiology and Imaging , 2009,
Abstract: Cerebrotendinous xanthomatosis is a rare genetic disorder. We present and discuss the clinical, radiological, and histopathologic findings in a 36-year-old woman who had juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and bilateral Achilles tendon xanthomas. She was thoroughly investigated radiologically and biopsy confirmed the diagnosis of xanthomas.
Cerebrotendinous xanthomatosis: Need for early diagnosis  [cached]
Muhammed K,Nandakumar G,Saritha S
Indian Journal of Dermatology, Venereology and Leprology , 2006,
Abstract: Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestanol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects and premature death from arteriosclerosis. The primary biochemical defect is deficiency of hepatic mitochondrial enzyme sterol-27-hydroxylase which catalyses the hydroxylation of cholestanol (5-alpha dehydro derivative of cholesterol) and this deficiency decreases bile acid synthesis. Substantial elevation of serum cholestanol and urinary bile alcohols with low to normal plasma cholesterol concentration establishes the diagnosis. Cerebrotendinous xanthomatosis is exceptionally rare in the Indian population. We are reporting a woman with this rare disorder, who was on antiepileptic and antipsychotic drugs for a prolonged period and whose original condition went undiagnosed. She presented with xanthomas on the Achilles tendons and the upper end of tibia. She was mentally subnormal and her serum cholestanol level was raised. Her younger sister too was severely affected by this disorder. Early treatment with chenodeoxycholic acid is known to prevent disease progression.
Paraganglioma of cauda equina : a case report.  [cached]
Singh P,Singh A,Rajaram T,Sabhikhi A
Neurology India , 2000,
Abstract: Histopathologically and immunologically confirmed case of paraganglioma of cauda equina region is described.
Redundant Nerve Root Syndrome of Cauda Equina  [cached]
Savas TEPE,Mehmet KARA,Celal IPLIKCIO?LU
Journal of Neurological Sciences , 2012,
Abstract: Objective: Recognizing cauda equina redundant nerve root syndrome is crucial before surgery. Magnetic resonance imaging (MRI) findings of this condition are demonstrated. The aim of this study is to identify patients with redundant nerve root syndrome (RNS), well demonstrate (MRI) findings, notify the surgeon before the surgery and therefore to prevent a potential catastrophe.Methods: Ten patients (age range 59-87; mean age 74; 5 males and 5 females) with clinical symptoms of back pain, progressive leg numbness, pain and paresthesia on lower sensory dermatomes were diagnosed as redundant nerve root syndrome of cauda equina by MRI and clinical findings in our institution in two years prospective evaluation. In the same time period, 575 lumbar MRI was performed for patients who presented with low back pain in our clinic.Results: Magnetic resonance imaging findings revealed severe extradural lumbar spinal canal stenosis and tortuous, elongated, enlarged nerve roots in all ten patients with redundant nerve root syndrome of cauda equina.Conclusions: Severe extradural lumbar spinal stenosis may represent itself with large, elongated and tortuous nerve roots. This is probably secondary to acquired elongation of nerve roots due to mechanical trapping at the level of lumbar spinal stenosis. Cause is possibly a squeezing force due to chronic compression. Magnetic resonance imaging and MR myelography findings of several redundant nerve root syndrome of cauda equina cases are presented with clinical impression in this study.
Cerebrotendinous xanthomatosis: report of two Brazilian brothers
Lange, Marcos Christiano;Zétola, Viviane Flumignan;Teive, Helio A.G.;Scola, Rosana H.;Trentin, Ana Paula;Zavala, Jorge A.;Pereira, Eduardo R.;Raskin, Salmo;Werneck, Lineu C.;Sistermans, Erik A.;
Arquivos de Neuro-Psiquiatria , 2004, DOI: 10.1590/S0004-282X2004000600028
Abstract: cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lipid storage secondary to a sterol 27-hydroxylase deficiency in the formation of cholic and chenodeoxycholic acids. we describe two brazilian brothers with cognitive impairement and chronic diarrhea. one of them also presents bilateral cataracts. neurological findings were progressive walking deficit, limb ataxia and pyramidal signs. both patients had bilateral achilles tendon xanthomata. magnetic resonance image showed signal alterations in cerebellar hemispheres. we describe these cases with molecular genetic analysis confirming diagnosis and comparing with previous literature. the cyp27a1 gene study showed a c1187t mutation on exon 6.
Paraganglioma of Cauda Equina – Case Report  [cached]
Sushrut M.Fulare,Jagannath L,Lingaraj Narasimhaiah,Udit Mishra
Journal of Orthopaedic Case Reports , 2013,
Abstract: Introduction: Paraganglioma is benign and slow growing neuroectodermal tumor commonly found in the adrenal medulla, carotid body and glomus-jugulare. Paraganglioma of cauda equina is relatively rare.Case Report: We report a case of paraganglioma of the cauda equina region in 60 year lady who underwent successful surgical resection. Clinical presentation and imaging appearances of paraganglioma involving the spine is nonspecific and most of the time diagnosis is on post operative histopathology. Few MRI features and contrast MRI can be helpful if paraganglioma is suspected.Conclusion: Paraganglioma should be kept in mind as the differential diagnosis of extra medullary tumor contracted in the cauda equina region. Catecholamine secretory paraganglioma is uncommon but preoperative screening for hyper adrenergic state is necessary to prevent hypertensive crises during tumor removal.
Cauda equina hemangioblastoma: case report
Costa Jr, Leodante Batista da;Andrade, Agustinho de;Braga, Bruno Perocco;Ribeiro, Carlos Alberto;
Arquivos de Neuro-Psiquiatria , 2003, DOI: 10.1590/S0004-282X2003000300024
Abstract: hemangioblastomas of the spinal cord are rare lesions, and those located at the cauda equina are even rarer. most commonly these tumors are present in patients with von hippel-lindau (vhl) syndrome. we describe here the case of a 48 years old woman with a pure radicular hemangioblastoma, not associated with vhl, presenting with radicular pain, diagnosed with magnetic ressonance imaging (mri) and submitted to total resection with a very good outcome. to our knownledge, this is the second report to describe the mri aspect of histologically proved hemangioblastoma of the cauda equina in a patient without clinical criteria for vhl.
Cauda equina hemangioblastoma: case report
Costa Jr Leodante Batista da,Andrade Agustinho de,Braga Bruno Perocco,Ribeiro Carlos Alberto
Arquivos de Neuro-Psiquiatria , 2003,
Abstract: Hemangioblastomas of the spinal cord are rare lesions, and those located at the cauda equina are even rarer. Most commonly these tumors are present in patients with von Hippel-Lindau (VHL) syndrome. We describe here the case of a 48 years old woman with a pure radicular hemangioblastoma, not associated with VHL, presenting with radicular pain, diagnosed with magnetic ressonance imaging (MRI) and submitted to total resection with a very good outcome. To our knownledge, this is the second report to describe the MRI aspect of histologically proved hemangioblastoma of the cauda equina in a patient without clinical criteria for VHL.
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