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Article

Novel mutation and white matter involvement in an Indian child with pycnodysostosis.

Indian journal of pediatrics - 1 May 2015

Singh Ankur, Cuevas-Covarrubias Sergio, Pradhan Gaurav, Gautam V K, Messina-Baas Olga, Gonzalez-Huerta Luz Maria, Goyal Manisha, Kapoor Seema

Abstract excerpt

Pycnodysostosis (OMIM # 265800) is an inherited lysosomal disorder due to affection of cathepsin K gene, localised to 1q21. Pycnodysostosis can present with both skeletal and extraskeletal features. The index patient presented with cardinal features of short stature, dental and digital anomalies with history of multiple fractures. He, in addition had an unreported finding of white matter hyperintensity suggesting...

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PMID: 25304337
DOI: 10.1007/s12098-014-1582-5

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CTSK

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