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


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


  1. Opitz G/BBB syndrome. Genetics Home Reference (2020).
  2. Opitz JM., et al. “The G-syndrome of multiple congenital anomalies”. Birth Defects 2 (1969): 95-102.
  3. Meroni Germana. “X-Linked Opitz G/BBB Syndrome”. Gene Reviews®, edited by Margaret P Adam et. al., University of Washington, Seattle (2004).
  4. Fontanella Bianca., et al. “MID1 mutations in patients with X-linked Opitz G/BBB syndrome”. Human Mutation 5 (2008): 584-594.
  5. Cox TC., et al. “New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome”. Human Molecular Genetics17 (2000): 2553-2562.
  6. Robin NH., et al. “Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature”. American Journal of Medical Genetics3 (1996): 305-317.
  7. Shaw Adam., et al. “Neonatal teeth in X-linked Opitz (G/BBB) syndrome”. Clinical Dysmorphology3 (2006): 185-186.
  8. Zhang Xufeng., et al. “Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome”. Journal of Human Genetics5 (2011): 348-351.
  9. Pinson L., et al. “Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome”. Journal of Medical Genetics5 (2004): 381-386.
  10. De Falco Francesca., et al. “X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum”. American Journal of Medical Genetics Part A2 (2003): 222-228.
  11. Dal Zotto L., et al. “The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region”. Human Molecular Genetics3 (1998): 489-499.
  12. Cainarca S., et al. “Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle”. Human Molecular Genetics8 (1999): 1387-1396.
  13. Schweiger S., et al. “The Opitz syndrome gene product, MID1, associates with microtubules”. Proceedings of the National Academy of Sciences of the United States of America6 (1999): 2794-2799.
  14. Reddy BA., et al. “A novel zinc finger coiled-coil domain in a family of nuclear proteins”. Trends in Biochemical Sciences9 (1992): 344-345.
  15. Cainarca S., et al. “Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle”. Human Molecular Genetics 8 (1999): 1387-1396.
  16. Gaudenz K., et al. “Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain”. American Journal of Human Genetics3 (1998): 703-710.
  17. , et al. “MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation”. Nature Genetics 29.3 (2001): 287-294.
  18. Liu J., et al. “Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4”. Proceedings of the National Academy of Sciences of the United States of America12 (2001): 6650-6655.
  19. Short Kieran M., et al. “MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders”. BMC Cell Biology 3 (2002): 1.
Citation: Juna Musa., et al. “X-Linked Opitz Syndrome in a 19-Month-Old Male Patient”. EC Neurology 12.12 (2020): 66-72.

PubMed Indexed Article

EC Pharmacology and Toxicology
LC-UV-MS and MS/MS Characterize Glutathione Reactivity with Different Isomers (2,2' and 2,4' vs. 4,4') of Methylene Diphenyl-Diisocyanate.

PMID: 31143884 [PubMed]

PMCID: PMC6536005

EC Pharmacology and Toxicology
Alzheimer's Pathogenesis, Metal-Mediated Redox Stress, and Potential Nanotheranostics.

PMID: 31565701 [PubMed]

PMCID: PMC6764777

EC Neurology
Differences in Rate of Cognitive Decline and Caregiver Burden between Alzheimer's Disease and Vascular Dementia: a Retrospective Study.

PMID: 27747317 [PubMed]

PMCID: PMC5065347

EC Pharmacology and Toxicology
Will Blockchain Technology Transform Healthcare and Biomedical Sciences?

PMID: 31460519 [PubMed]

PMCID: PMC6711478

EC Pharmacology and Toxicology
Is it a Prime Time for AI-powered Virtual Drug Screening?

PMID: 30215059 [PubMed]

PMCID: PMC6133253

EC Psychology and Psychiatry
Analysis of Evidence for the Combination of Pro-dopamine Regulator (KB220PAM) and Naltrexone to Prevent Opioid Use Disorder Relapse.

PMID: 30417173 [PubMed]

PMCID: PMC6226033

EC Anaesthesia
Arrest Under Anesthesia - What was the Culprit? A Case Report.

PMID: 30264037 [PubMed]

PMCID: PMC6155992

EC Orthopaedics
Distraction Implantation. A New Technique in Total Joint Arthroplasty and Direct Skeletal Attachment.

PMID: 30198026 [PubMed]

PMCID: PMC6124505

EC Pulmonology and Respiratory Medicine
Prevalence and factors associated with self-reported chronic obstructive pulmonary disease among adults aged 40-79: the National Health and Nutrition Examination Survey (NHANES) 2007-2012.

PMID: 30294723 [PubMed]

PMCID: PMC6169793

EC Dental Science
Important Dental Fiber-Reinforced Composite Molding Compound Breakthroughs

PMID: 29285526 [PubMed]

PMCID: PMC5743211

EC Microbiology
Prevalence of Intestinal Parasites Among HIV Infected and HIV Uninfected Patients Treated at the 1o De Maio Health Centre in Maputo, Mozambique

PMID: 29911204 [PubMed]

PMCID: PMC5999047

EC Microbiology
Macrophages and the Viral Dissemination Super Highway

PMID: 26949751 [PubMed]

PMCID: PMC4774560

EC Microbiology
The Microbiome, Antibiotics, and Health of the Pediatric Population.

PMID: 27390782 [PubMed]

PMCID: PMC4933318

EC Microbiology
Reactive Oxygen Species in HIV Infection

PMID: 28580453 [PubMed]

PMCID: PMC5450819

EC Microbiology
A Review of the CD4 T Cell Contribution to Lung Infection, Inflammation and Repair with a Focus on Wheeze and Asthma in the Pediatric Population

PMID: 26280024 [PubMed]

PMCID: PMC4533840

EC Neurology
Identifying Key Symptoms Differentiating Myalgic Encephalomyelitis and Chronic Fatigue Syndrome from Multiple Sclerosis

PMID: 28066845 [PubMed]

PMCID: PMC5214344

EC Pharmacology and Toxicology
Paradigm Shift is the Normal State of Pharmacology

PMID: 28936490 [PubMed]

PMCID: PMC5604476

EC Neurology
Examining those Meeting IOM Criteria Versus IOM Plus Fibromyalgia

PMID: 28713879 [PubMed]

PMCID: PMC5510658

EC Neurology
Unilateral Frontosphenoid Craniosynostosis: Case Report and a Review of the Literature

PMID: 28133641 [PubMed]

PMCID: PMC5267489

EC Ophthalmology
OCT-Angiography for Non-Invasive Monitoring of Neuronal and Vascular Structure in Mouse Retina: Implication for Characterization of Retinal Neurovascular Coupling

PMID: 29333536 [PubMed]

PMCID: PMC5766278

EC Neurology
Longer Duration of Downslope Treadmill Walking Induces Depression of H-Reflexes Measured during Standing and Walking.

PMID: 31032493 [PubMed]

PMCID: PMC6483108

EC Microbiology
Onchocerciasis in Mozambique: An Unknown Condition for Health Professionals.

PMID: 30957099 [PubMed]

PMCID: PMC6448571

EC Nutrition
Food Insecurity among Households with and without Podoconiosis in East and West Gojjam, Ethiopia.

PMID: 30101228 [PubMed]

PMCID: PMC6086333

EC Ophthalmology
REVIEW. +2 to +3 D. Reading Glasses to Prevent Myopia.

PMID: 31080964 [PubMed]

PMCID: PMC6508883

EC Gynaecology
Biomechanical Mapping of the Female Pelvic Floor: Uterine Prolapse Versus Normal Conditions.

PMID: 31093608 [PubMed]

PMCID: PMC6513001

EC Dental Science
Fiber-Reinforced Composites: A Breakthrough in Practical Clinical Applications with Advanced Wear Resistance for Dental Materials.

PMID: 31552397 [PubMed]

PMCID: PMC6758937

EC Microbiology
Neurocysticercosis in Child Bearing Women: An Overlooked Condition in Mozambique and a Potentially Missed Diagnosis in Women Presenting with Eclampsia.

PMID: 31681909 [PubMed]

PMCID: PMC6824723

EC Microbiology
Molecular Detection of Leptospira spp. in Rodents Trapped in the Mozambique Island City, Nampula Province, Mozambique.

PMID: 31681910 [PubMed]

PMCID: PMC6824726

EC Neurology
Endoplasmic Reticulum-Mitochondrial Cross-Talk in Neurodegenerative and Eye Diseases.

PMID: 31528859 [PubMed]

PMCID: PMC6746603

EC Psychology and Psychiatry
Can Chronic Consumption of Caffeine by Increasing D2/D3 Receptors Offer Benefit to Carriers of the DRD2 A1 Allele in Cocaine Abuse?

PMID: 31276119 [PubMed]

PMCID: PMC6604646

EC Anaesthesia
Real Time Locating Systems and sustainability of Perioperative Efficiency of Anesthesiologists.

PMID: 31406965 [PubMed]

PMCID: PMC6690616

EC Pharmacology and Toxicology
A Pilot STEM Curriculum Designed to Teach High School Students Concepts in Biochemical Engineering and Pharmacology.

PMID: 31517314 [PubMed]

PMCID: PMC6741290

EC Pharmacology and Toxicology
Toxic Mechanisms Underlying Motor Activity Changes Induced by a Mixture of Lead, Arsenic and Manganese.

PMID: 31633124 [PubMed]

PMCID: PMC6800226

EC Neurology
Research Volunteers' Attitudes Toward Chronic Fatigue Syndrome and Myalgic Encephalomyelitis.

PMID: 29662969 [PubMed]

PMCID: PMC5898812

EC Pharmacology and Toxicology
Hyperbaric Oxygen Therapy for Alzheimer's Disease.

PMID: 30215058 [PubMed]

PMCID: PMC6133268

News and Events

December Issue Release

We always feel pleasure to share our updates with you all. Here, notifying you that we have successfully released the December issue of respective journals and the latest articles can be viewed on the current issue pages.

Submission Deadline for Upcoming Issue

ECronicon delightfully welcomes all the authors around the globe for effective collaboration with an article submission for the upcoming issue of respective journals. Submissions are accepted on/before December 20, 2021.

Certificate of Publication

ECronicon honors with a "Publication Certificate" to the corresponding author by including the names of co-authors as a token of appreciation for publishing the work with our respective journals.

Best Article of the Issue

Editors of respective journals will always be very much interested in electing one Best Article after each issue release. The authors of the selected article will be honored with a "Best Article of the Issue" certificate.

Certifying for Review

ECronicon certifies the Editors for their first review done towards the assigned article of the respective journals.

Latest Articles

The latest articles will be updated immediately on the articles in press page of the respective journals.

Immediate Assistance

The prime motto of this team is to clarify all the queries without any delay or hesitation to avoid the inconvenience. For immediate assistance on your queries please don't hesitate to drop an email to