Research Article
Volume 12 Issue 12 - 2020
Self-Reported Outcomes of Mexican Multiple Sclerosis Outpatients and their Impact on Quality of Life Status
Juna Musa1*, Kristi Saliaj2, Fiona Bushati2, Ina Kola3, Elton Cekaj4, Loran Rakovica5, Ali Guy6, Masum Rahman7, Blina Abdullahu2 and Diamant Shtiza8
1Postdoctoral Research Fellow, Department of Surgery, Mayo Clinic, Minnesota, USA
2Medical Doctor, University Hospital Center “Mother Teresa”, Tirana, Albania
3Plastic Surgery Resident, Department of “Burns and Plastic Surgery”, University Hospital Center “Mother Teresa”, Tirana, Albania
4Medical Doctor, University of Prishtina, Faculty of Medicine, Prishtina, Kosova
5Department of Physical Medicine and Rehabilitation, New York University, School of Medicine - NYU Medical Center, New York, USA
6Medical Doctor, Department of Radiology, Hospital of Durres, Albania
7Postdoctoral Research Fellow, Department of Neurosurgery, Mayo Clinic, Rochester, USA
8Department of Pediatrics, Nephrology Unit, University Hospital Center ‘’Mother Teresa’’, Tirana, Albania
*Corresponding Author: Juna Musa, Postdoctoral Research Fellow, Department of Surgery, Mayo Clinic, Minnesota, USA.
Received: October 09, 2020; Published: November 28, 2020




Abstract

X-Linked Bohring Opitz Syndrome (XLOS) is a rare genetic syndrome caused by mutations in the MID1 gene and is inherited in a X-linked recessive manner. Clinical findings include facial dysmorphic features, malformations of midline structures mainly genitourinary and laryngotracheoesophageal anomalies, midline brain defects and congenital heart defects. Developmental delay and intellectual disability may also be present.
Herein, we present the case of a 19-month-old male patient diagnosed with XLOS manifesting almost all the clinical features of this condition. The patient initially presented with imperforate anus at birth and throughout the course of 19 months he was also diagnosed with hypertelorism, complete ptosis of his left palpebrae, congenital heart defects, hypospadias and vesicoureteral reflux (VUR). A clinical diagnosis of XLOS was made, which was then confirmed through molecular genetic testing. This case represents one of the very few reported cases of XLOS in Albania, with a conclusive diagnosis established by genetic testing. Its purpose is to draw attention to this seldom encountered, yet often contentious condition and emphasize the importance of adopting a multidisciplinary approach in the continuous management of the extensive clinical manifestations and complications of the condition and long-term care of these patients.

Keywords: X-Linked Opitz Syndrome; MID-1 Gene; Midline Defects; Facial Dysmorphia; Hypertelorism; Hypospadias; Imperforate Anus; Congenital Heart Defects

References

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Citation: Juna Musa., et al. “X-Linked Opitz Syndrome in a 19-Month-Old Male Patient”. EC Neurology 12.12 (2020): 66-72.

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