Case Report
Volume 5 Issue 3 - 2021
A Rare Cause of Multisystem Vasculopathy in Children: Expanding Clinical Spectrum of DOCK8 Gene Mutation, A Case Report
Bhavna Gupta1*, Nader Francis1, Amal Mohamed Sherif1, Khurshid Khan1, SinanYavuz1 and Nidheesh Cheeyancheri Chencheri2
1Department of Pediatrics, Al Qassimi Womens and Children Hospital, Sharjah, United Arab Emirates
2Al Jalila Children’s Specialty Hospital, Dubai, United Arab Emirates
*Corresponding Author: Bhavna Gupta, Department of Pediatrics, Al Qassimi Womens and Children Hospital, Sharjah, United Arab Emirates.
Received: January 27, 2021; Published: February 27, 2021




Abstract

A twelve-year-old girl with history of recurrent infections, severe eczema and failure to thrive with a diagnosis of hyper IgE syndrome presented to our hospital with recent onset of right hemiparesis. She had history of similar focal neurological deficits two years back. The magnetic resonance imaging (MRI) of brain showed subacute hemorrhagic infarct with atrophic changes suggestive of old infarcts. The Magnetic resonance angiography revealed left middle cerebral artery occlusion. Incidentally, CT abdomen with contrast showed sclerosing cholangitis. Her genetic work up showed DOCK 8 gene (Dedicator of cytokinesis 8) mutation. Hyper IgE (immunoglobulin E) syndrome with DOK8 mutation (an autosomal recessive form of Hyper Ig E syndrome), can have multisystem involvement with predominant vascular manifestations. There has been similar cases described in literature, although very rare. We report this case to exemplify the rarer presentation of a complex disease. This underlines the needs for accurate genetic diagnosis, which helps in early recognition of the associated complications.

Keywords: DOCK8 Mutation; Vasculitis; Sclerosing Cholangitis

References

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Citation: Bhavna Gupta., et al. “A Rare Cause of Multisystem Vasculopathy in Children: Expanding Clinical Spectrum of DOCK8 Gene Mutation, A Case Report”. EC Emergency Medicine and Critical Care 5.3 (2021): 85-89.

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