Spinal ependymoma in a patient with Kabuki syndrome: a case report

Kabuki Syndrome is rare and poorly documented, initially mentioned by Niikawa and Kuroki in 1981. The prevalence of the syndrome among live births is 1:32,000. Case reports are now available, which correlates to improved techniques for accurate diagnosis. This study focused on a systematic comparative review of the phenotypes of individuals with Kabuki Syndrome, with the purpose to facilitate diagnosis. The systematic review was done with a bibliographic survey of case studies using the following databases: Pubmed, Science Direct and Google Scholar, in conjunction with the following key-words: Kabuki syndrome, phenotype, KMT2D and case report. The literature shows that patients with this syndrome present five main characteristics, besides several types of secondary phenotypes. These characteristics present variations in permeability as well as expressivity of some genes in individuals, therefore, a characterization through phenotype alone becomes limited, making it necessary to perform genetic analysis for differential diagnosis. In order to increase the knowledge and elucidate mechanisms of Kabuki syndrome, we suggest further studies that utilize animal models.

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Capillary malformations in a child with Kabuki syndrome: A case report

JAAD Case Reports ◽

10.1016/j.jdcr.2019.05.004 ◽

2019 ◽

Vol 5 (6) ◽

pp. 560-562

Author(s):

Nikki C. Geers ◽

H. Bing Thio ◽

Wim J.A. de Kort

Keyword(s):

Case Report ◽

Kabuki Syndrome

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Intradural Extramedullary Spinal Ependymoma: A Case Report of Malignant Transformation Occurring

Asian Spine Journal ◽

10.4184/asj.2013.7.2.139 ◽

2013 ◽

Vol 7 (2) ◽

pp. 139 ◽

Cited By ~ 9

Author(s):

Takashi Moriwaki ◽

Koichi Iwatsuki ◽

Yu-ichiro Ohnishi ◽

Masao Umegaki ◽

Masahiro Ishihara ◽

...

Keyword(s):

Case Report ◽

Malignant Transformation ◽

Spinal Ependymoma ◽

Intradural Extramedullary

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Fatal holocord recurrence of a pregnancy-related, low-grade spinal ependymoma: case report and review of an unusual clinical phenomenon

Spinal Cord Series and Cases ◽

10.1038/s41394-020-00343-9 ◽

2020 ◽

Vol 6 (1) ◽

Author(s):

Sumit Thakar ◽

Laxminadh Sivaraju ◽

Nandita Ghosal ◽

Saritha Aryan ◽

Alangar S. Hegde

Keyword(s):

Case Report ◽

Low Grade ◽

Spinal Ependymoma ◽

Clinical Phenomenon

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Cytologic and histologic features of spinal cord ependymoma in a young dog: a case report

Veterinární Medicína ◽

10.17221/86/2009-vetmed ◽

2010 ◽

Vol 55 (No. 1) ◽

pp. 35-38 ◽

Cited By ~ 2

Author(s):

A. Sfacteria ◽

F. Macrì ◽

L. Perillo ◽

G. Rapisarda ◽

G. Lanteri ◽

...

Keyword(s):

Spinal Cord ◽

Case Report ◽

Contrast Medium ◽

Histological Examination ◽

Neoplastic Cells ◽

Spinal Ependymoma ◽

Eosinophilic Cytoplasm ◽

Cytoplasmic Processes ◽

Positive Results ◽

Fibrillar Network

A case of intramedullary ependymoma in a young dog is reported. A two year old dog was presented with paralysis of the forelimbs. At myelographic examination, an intramedullary pattern, blocking the progression of contrast medium, was observed. At necropsy, a 3 × 2 cm white-greyish mass was found extending from the 3<sup>rd</sup> to 5<sup>th</sup> lumbar levels. At cytological and histological examination, the mass was highly cellular and was comprised of ovoid cells with indistinct borders, elongated eosinophilic cytoplasm and round to oval vesicular nuclei. Cytoplasmic processes formed a fibrillar network wherein true rosettes and many pseudorosettes around a fibrovascular stroma were observed. Immunohistochemistry for vimentin and GFAP gave strong positive results in the neoplastic cells, especially around pseudorosettes and confirmed the diagnosis of intramedullary spinal ependymoma.

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