Case Report
Volume 11 Issue 12 - 2020
OCT Documented Optic Nerve Neuropathy in Pycnodysostosis - Case Report and Review of Literature
Neelam Pawar1*, Meenakshi Ravindran1, S Padmavathy2, Devendra Maheshwari3 and R Ramakrishanan3
1Paediatric Ophthalmology and Strabismus Department, Aravind Eye Hospital, Tirunelveli, India
2Neurophthalmology Department, Aravind Eye Hospital, Tirunelveli, India
3Glaucoma Department, Aravind Eye Hospital, Tirunelveli, India
*Corresponding Author: Neelam Pawar, Pediatric and Squint Services, Paediatric Ophthalmology and Strabismus Department, Aravind Eye Hospital, Tirunelveli, India.
Received: August 26, 2020; Published: November 28, 2020




Abstract

We report the case of 10-year-old girl who presented to us for ophthalmic evaluation referred by pediatrician. On fundus examination, disk pallor was noted in both eyes more in left eye. She did not complain of headache, vomiting or blurred vision. Computed tomography (CT) imaging showed diffuse thickening of skull vault and base with hyperostosis along with narrowing of optic canal and skull base foramina. Spectralis-OCT imaging revealed optic neuropathy in both eyes. This case report reviews the clinical and radiographic characteristics of pycnodysostosis and OCT documented optic neuropathy.

Keywords: Pycnodysostosis; Optic Neuropathy; OCT; Mandibular Angle

References

  1. Edelson JG., et al. “Pycnodysostosis: orthopedic aspects with a description of 14 new cases”. Clinical Orthopaedics and Related Research 280 (1992): 263-276.
  2. Mujawar Q., et al. “Pycnodysostosis with unusual findings: a case report”. Cases Journal 2 (2009): 6544.
  3. “Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox?” Journal of Craniofacial Surgery 30 (2019): 110-114.
  4. Ramaiah KK., et al. “Pyknodysostosis: report of a rare case with review of literature”. Imaging Science in Dentistry 41 (2011): 177-181.
  5. Wolpowitz A and Matisonn A. “A Comparative study of Pycnodysostosis, Cleidocranial Dysostosis, Osteopetrosis and Acro-Osteolysis”. South African Medical Journal 48 (1974): 1011-1018.
  6. Fleming KW., et al. “Dental and facial bone abnormalities in pyknodysostosis: CT findings”. American Journal of Neuroradiology 28 (2007): 132-134.
  7. Alves Pereira D., et al. “Pycnodysostosis. A report of 3 clinical cases”. Medicina Oral, Patologia Oral, Cirugia Bucal 13 (2008): E633-E635.
  8. Varoona Bizaoui., et al. “Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review”. Clinical Genetics 96 (2019): 309-316.
  9. Alves N and Cantín M. “Clinical and radiographic maxillofacial features of pycnodysostosis”. International Journal of Clinical and Experimental Medicine 7 (2014): 492-496.
  10. Loewenstern J., et al. “Optical Coherence Tomography in the Management of Skull Base Fibrous Dysplasia with Optic Nerve Involvement”. World Neurosurgery 109 (2018): e546-e553.
  11. Neelam Pawar., et al. “Retinal nerve fiber layer thickness in normal Indian pediatric population measured with optical coherence tomography”. Indian Journal of Ophthalmology 62 (2014): 412-418.
Citation: Neelam Pawar., et al. “OCT Documented Optic Nerve Neuropathy in Pycnodysostosis - Case Report and Review of Literature”. EC Ophthalmology 11.12 (2020): 67-73.

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


April Issue Release

We always feel pleasure to share our updates with you all. Here, notifying you that we have successfully released the April 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 April 26, 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 editor@ecronicon.uk