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Distinct neuroimaging features of DDHD2 gene-related spastic paraplegia, a mimicker of cerebral palsy
  1. Farah Thabet1,
  2. Kalthoum Tlili-Graiess2,
  3. Brahim Tabarki1
  1. 1Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
  2. 2Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
  1. Correspondence to Professor Brahim Tabarki, Department of Pediatrics, Prince Sultan Military Medical, Riyadh 11159, Saudi Arabia; btabarki{at}hotmail.com

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A 4-year-old girl, the product of a consanguineous marriage with unremarkable antenatal and perinatal periods, presented with global developmental delay, mainly motor with non-progressive spastic gait, considered as cerebral palsy and started rehabilitation. There was no regression, seizure or vision impairment. She had microcephaly, spastic paraplegia, exaggerated reflexes and strabismus. MRI and MR spectroscopy showed thin corpus callosum, subtle white matter changes with mild volume loss, mild dilatation of the posterior bodies of the lateral ventricles and prominent pathological lipid …

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Footnotes

  • Contributors BT: study concept and design, acquisition and analysis of data, preparation of manuscript including figures. KT-G: preparation and interpretation of the figures. FT: study concept and design, data acquisition and interpretation, critical revision.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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