Literature DB >> 17476090

Osteopetrosis with Arnold Chiari malformation type I and brain stem compression.

M L Kulkarni1, S N Marakkanavar, S Sushanth, N Pradeep, C Ashok, M D Balaji, K P Sajith, G Srinivas.   

Abstract

Osteopetrosis is a collective term for a range of sclerosing bone diseases resulting from an absence or defective function of osteoclasts. The clinical expression is variable and includes skeletal, hematological and neurological manifestations. The common neurological manifestation includes cranial neuropathies involving optic, cochlear, facial and trigeminal nerves. Spastic quadriplegia occurring as a result of brain stem compression in osteopetrosis is uncommon. The association of Type 1 Arnold Chiari malformation with osteopetrosis resulting in brain stem compression syndrome is an extremely rare entity.

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Year:  2007        PMID: 17476090     DOI: 10.1007/s12098-007-0070-6

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   5.319


  18 in total

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Authors:  Fumio Otsuka; Kenichi Inagaki; Jiro Suzuki; Toshio Ogura; Hirofumi Makino
Journal:  Endocr J       Date:  2004-06       Impact factor: 2.349

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Journal:  Radiol Clin North Am       Date:  1991-01       Impact factor: 2.303

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Authors:  R Loría-Cortés; E Quesada-Calvo; C Cordero-Chaverri
Journal:  J Pediatr       Date:  1977-07       Impact factor: 4.406

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Journal:  Neurology       Date:  1981-01       Impact factor: 9.910

8.  Chiari malformation presenting in adults: a surgical experience in 127 cases.

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Journal:  Neurosurgery       Date:  1983-04       Impact factor: 4.654

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Authors:  C G Steward
Journal:  Neuropathol Appl Neurobiol       Date:  2003-04       Impact factor: 8.090

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Authors:  J M Charles; L L Key
Journal:  J Pediatr       Date:  1998-02       Impact factor: 4.406

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  8 in total

1.  Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis.

Authors:  Sirisha Rani Siddaiahgari; Darshak Makadia; Nikit Shah; Radha Rama Devi; Lokesh Lingappa
Journal:  Indian J Pediatr       Date:  2013-10-08       Impact factor: 1.967

2.  Late-onset Visual Loss in Osteopetrosis.

Authors:  Abdul-Majid Wangai; Sheila Waa; Maryam Wangai; Erastus Amayo; Oluoch Olunya
Journal:  Sultan Qaboos Univ Med J       Date:  2011-08-15

3.  Infantile osteomyelitis secondary to malignant osteopetrosis.

Authors:  Sunita Managutti; Anil Managutti; Michael Pragasm
Journal:  J Maxillofac Oral Surg       Date:  2011-03-25

4.  Malignant Infantile Osteopetrosis: A Case Report.

Authors:  Dalal K Bubshait; Ziyad E Himdy; Ola Fadaaq; Hajar I Alshmas
Journal:  Cureus       Date:  2020-01-21

5.  Lessons from a case of osteopetrosis oxycephaly and Chiari type I malformation: a case report.

Authors:  Aimun Ab Jamjoom; Bakur A Jamjoom; Abrar R Waliuddin; Abdulhakim B Jamjoom
Journal:  Cases J       Date:  2009-07-27

6.  Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation.

Authors:  A H Mahmoud Adel; A Al Jabri Abdullah; Faqeih Eissa
Journal:  J Pediatr Neurosci       Date:  2013-01

Review 7.  Malignant infantile osteopetrosis: case report with review of literature.

Authors:  Laila Essabar; Toufik Meskini; Said Ettair; Naima Erreimi; Nezha Mouane
Journal:  Pan Afr Med J       Date:  2014-01-27

8.  Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.

Authors:  Je Hoon Jeong; A Leum Lee; Sung Yoon Cho; Dong Kyu Jin; Soo-Bin Im
Journal:  Medicine (Baltimore)       Date:  2016-05       Impact factor: 1.889

  8 in total

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