Literature DB >> 20454938

Cerebrotendinous xanthomatosis.

Mahesh Kamate1, Vivek Chetal, Virupaxi Hattiholi.   

Abstract

We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases. Magnetic resonance imaging showed characteristic signal alterations in cerebellar hemispheres, brainstem and posterior cerebral white matter.

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Year:  2010        PMID： 20454938     DOI： 10.1007/s12098-010-0070-9

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  6 in total

1.  Cerebrotendinous xanthomatosis: report of two Brazilian brothers.

Authors:  Marcos Christiano Lange; Viviane Flumignan Zétola; Helio A G Teive; Rosana H Scola; Ana Paula Trentin; Jorge A Zavala; Eduardo R Pereira; Salmo Raskin; Lineu C Werneck; Erik A Sistermans
Journal:  Arq Neuropsiquiatr       Date:  2004-12-15       Impact factor: 1.420

2.  Cerebrotendinous xanthomatosis: need for early diagnosis.

Authors:  K Muhammed; G Nandakumar; S Saritha
Journal:  Indian J Dermatol Venereol Leprol       Date:  2006 Sep-Oct       Impact factor: 2.545

3.  Cerebrotendinous xanthomatosis: neuroimaging findings in two siblings from an Indian family.

Authors:  S B Gaikwad; A Garg; N K Mishra; V Gupta; A Srivastava; C Sarkar
Journal:  Neurol India       Date:  2003-09       Impact factor: 2.117

Review 4.  Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.

Authors:  Mohammed H Moghadasian
Journal:  Clin Invest Med       Date:  2004-02       Impact factor: 0.825

5.  Cerebrotendinous xanthomatosis with oromandibular dyskinesia.

Authors:  S Bordia; A A Saifee
Journal:  Neurol India       Date:  2003-12       Impact factor: 2.117

6.  Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat.

Authors:  Vladimir M Berginer; Bella Gross; Khayat Morad; Nechama Kfir; Siman Morkos; Salameh Aaref; Tzipora C Falik-Zaccai
Journal:  Pediatrics       Date:  2009-01       Impact factor: 7.124
  6 in total
  3 in total

1.  Cerebrotendinous xanthomatosis: an early diagnosis by biochemical tests.

Authors:  Muralidar Laxmanrao Kulkarni; M S Sreedhara; Sanjana Kalvehalli Kashinath; Akhil Muralidhar Kulkarni
Journal:  Indian J Pediatr       Date:  2014-02-21       Impact factor: 1.967

Review 2.  Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.

Authors:  Janice C Wong; Kailey Walsh; Douglas Hayden; Florian S Eichler
Journal:  J Inherit Metab Dis       Date:  2018-02-26       Impact factor: 4.982

3.  Cerebrotendinous Xanthomatosis: Report of two cases and a novel genetic mutation in an Indian patient.

Authors:  Bhupender K Bajaj; Anand Singh; Kuljeet S Anand; Jyoti Garg
Journal:  J Neurosci Rural Pract       Date:  2013-08
  3 in total

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