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Case Series
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| Familial occurrence of Dyke-Davidoff-Masson syndrome in two African siblings with unexplained parotid enlargement | ||||||
| Musoni-Rwililiza E.1, Moshi C.2, Sebera F.3, Silverstein A.4,5,6, Harris R.D.2,7, Kanyandekwe S.1,8, Levy-Carrick N.C.9 | ||||||
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1University of Rwanda College of Medicine and Health Sciences, Department of Psychiatry, Kigali, Rwanda.
2University Teaching Hospital of Kigali (CHUK), Department of Radiology, Kigali, Rwanda. 3Neuropsychiatric Hospital of Ndera, Department of Psychiatry, Kigali, Rwanda. 4Boston Children's Hospital, Department of Plastic Surgery, Boston, MA, USA. 5Harvard Medical School, Program in Global Surgery and Social Change, Boston, MA, USA. 6University of Miami Miller School of Medicine, Miami, FL, USA. 7Darmouth College Geisel School of Medicine, Hanover, NH, USA. 8University Teaching Hospital of Kigali (CHUK), Department of Psychiatry, Kigali, Rwanda. 9Brigham and Women's Hospital Department of Psychiatry, Harvard Medical School, Boston, MA, USA. | ||||||
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| Musoni-Rwililiza E., Moshi C., Sebera F., Silverstein A., Harris R.D., Kanyandekwe S., Levy-Carrick N.C. Familial occurrence of Dyke-Davidoff-Masson syndrome in two African siblings with unexplained parotid enlargement. Int J Case Rep Images 2016;7(6):354–359. |
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Abstract
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Introduction:
Dyke-Davidoff-Masson syndrome (DDMS) is a rare but well-described syndrome characterized by cerebral hemiatrophy, hemiparesis, seizures, and mental retardation. Though the etiology remains unknown, DDMS may be the result of a congenital vascular insult in intrauterine life or acquired as a result of trauma, infection, vascular abnormalities or intracranial hemorrhage in the perinatal period. In some case reports, DDMS has been associated with other diseases such as epidermoid tumors, arachnoid cysts, diabetes mellitus, adrenal insufficiency, hypopituitarism or hypothyroidism.
Case Series: We report the first case of siblings presenting with DDMS associated with parotid hypertrophy. Our case series describes a brother and sister, respectively 18- and 21-year-old, who were recently diagnosed with DDMS after the brother presented with bilateral parotid enlargement to a referral center in Kigali, Rwanda. Both patients endorse epilepsy, hemiparesis, and learning difficulties from a young age. Conclusion: The two cases' clinical and radiological findings are compatible with DDMS. Their comparable findings are suggestive of an underlying genetic component in disease development. Ultimately, the etiology of the parotid enlargement remains unknown. | |
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Keywords:
Clinical neurology, Hemiplegia, Epilepsy, Mental retardation
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Author Contributions
Emmanuel Musoni-Rwililiza – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Crispin Moshi – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Fidele Sebera – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Allison Silverstein – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Robert D. Harris – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Simone Kanyandekwe – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Nomi C. Levy-Carrick – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published |
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Guarantor of submission
The corresponding author is the guarantor of submission. |
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Source of support
None |
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Conflict of interest
Authors declare no conflict of interest. |
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Copyright
© 2016 Emmanuel Musoni-Rwililiza et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information. |
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