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Case Reports
. 2021 Nov 30;13(11):e20053.
doi: 10.7759/cureus.20053. eCollection 2021 Nov.

Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient

Yusuf Mehkri  1 , Rebecca Jules  2 , Aisha Elfasi  3 , Hans Shuhaiber  3
Affiliations
Case Reports

Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient

Yusuf Mehkri et al. Cureus. .

Abstract

Tetrasomy 18p is a rare genetic condition characterized by a supernumerary 18p isochromosome with two copies of the p arm of chromosome 18 causing patients to have an extra chromosome. Most cases are de novo; however, a few maternally inherited cases have been reported. The most commonly reported manifestations of this condition are developmental delay, cognitive impairments, muscle tone abnormalities, and dysmorphic facial features. This case details a new diagnosis of tetrasomy 18p in a 42-year-old adult who was initially diagnosed with cerebral palsy as a child. We compare the phenotypic traits of our patient with the ones reported in the literature.

Keywords: cerebral palsy; chromosome 18; genetics; multisystem; tetrasomy 18p syndrome.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Axial brain MRI showing ventricular enlargement and diffuse cerebral volume loss most prominent in the bilateral parietal regions visible in both images (A,B)
MRI - magnetic resonance imaging
See this image and copyright information in PMC

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