Lattice Corneal Dystrophy, Gelsolin Type: The First Case Report in Korea

Background: Binasal Occlusion (BNO) is a clinical technique used by many neurorehabilitative optometrists in patients with mild traumatic brain injury (mTBI) and increased visual motion sensitivity (VMS) or visual vertigo. BNO is a technique in which partial occluders are added to the spectacle lenses to suppress the abnormal peripheral visual motion information. This technique helps in reducing VMS symptoms (i.e., nausea, dizziness, balance difficulty, visual confusion). Case Report: A 44-year-old AA female presented for a routine eye exam with a history of mTBI approximately 33 years ago. She was suffering from severe dizziness for the last two years that was adversely impacting her ADLs. The dizziness occurred in all body positions and all environments throughout the day. She was diagnosed with vestibular hypofunction and had undergone vestibular therapy but reported little improvement. Neurological exam revealed dizziness with both OKN drum and hand movement, especially in the left visual field. BNO technique resulted in immediate relief of her dizziness symptoms. Conclusion: To our knowledge, this is the first case that illustrates how the BNO technique in isolation can be beneficial for patients with mTBI and vestibular hypofunction. It demonstrates the success that BNO has in filtering abnormal peripheral visual motion in these patients.

Download Full-text

Anesthesia in Carvajal syndrome; the first case report

Anaesthesia, Pain & Intensive Care ◽

10.35975/apic.v24i1.1233 ◽

2020 ◽

Vol 24 (1) ◽

pp. 105-107

Author(s):

Sedighe Shahhosseini ◽

Reza Aminnejad ◽

Amir Shafa ◽

Mehrdad Memarzade

Keyword(s):

Intensive Care ◽

Case Report ◽

Surgical Resection ◽

Genetic Disorder ◽

Anesthetic Technique ◽

Close Monitoring ◽

Anesthesia Management ◽

Rare Genetic Disorder ◽

First Case ◽

Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

Download Full-text

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy

European Journal of Ophthalmology ◽

10.1177/1120672121997305 ◽

2021 ◽

pp. 112067212199730

Author(s):

Aino Maaria Jaakkola ◽

Petri J Järventausta ◽

Reetta-Stiina Järvinen ◽

Pauliina Repo ◽

Tero T Kivelä ◽

...

Keyword(s):

Transforming Growth Factor Beta ◽

Transforming Growth Factor ◽

Late Onset ◽

Family Members ◽

Anterior Segment ◽

Corneal Dystrophy ◽

Ophthalmological Examination ◽

Lattice Corneal Dystrophy ◽

Tgfbi Gene ◽

Novel Variant

Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene. Case report: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBI variant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI, leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49 years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband. Conclusions: We classify the novel variant in TGFBI as possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBI variants associated with a spectrum of phenotypes of variant LCD.

Download Full-text

Isolated Dysphagia in a Patient with Medial Medullary Infarction – Effects of Evidence-Based Dysphagia Therapy: A Case Report

Case Reports in Neurology ◽

10.1159/000513676 ◽

2021 ◽

pp. 190-199

Author(s):

Samra Hamzic ◽

Patrick Schramm ◽

Hassan Khilan ◽

Tibo Gerriets ◽

Martin Juenemann

Keyword(s):

Case Report ◽

Vascular Occlusion ◽

Evidence Based ◽

Severe Dysphagia ◽

First Case ◽

Jaw Opening ◽

Medial Medullary Infarction ◽

Dysphagia Therapy ◽

Evidence Based Therapy ◽

Medullary Infarction

Medial medullary infarction (MMI) is a vascular occlusion in the medulla oblongata leading to certain constellations of neurological symptoms and seriously affecting the patient. Effective evidence-based treatment of severe dysphagia as sole symptom of MMI has not yet been reported. This case study aims to report successful effects of evidence-based therapy based on findings of dysphagia symptoms and pathophysiology of swallowing by flexible endoscopic evaluation of swallowing (FEES) in severe isolated dysphagia after MMI. FEES was performed to evaluate swallowing pathophysiology and dysphagia symptoms in a 57-year-old male with severe dysphagia after MMI. On the basis of FEES findings, simple and high-frequent evidence-based exercises for improvement of swallowing were implemented: thermal stimulation of faucial arches, Jaw Opening Exercise, and Jaw Opening Against Resistance. After 7 weeks of high-frequent evidence-based therapy and regular FEES evaluation the patient was set on full oral diet with no evidence of aspiration risk. In a first case report of isolated dysphagia in MMI our case illustrates that high-frequent evidence-based dysphagia therapy in combination with FEES as the method to evaluate and monitor swallowing pathophysiology can lead to successful and quick rehabilitation of severely affected dysphagic patients.

Download Full-text

Metal shrapnel causing psoas abscess: The first case report

International Journal of Surgery Case Reports ◽

10.1016/j.ijscr.2021.106092 ◽

2021 ◽

pp. 106092

Author(s):

Maher Al-Hajjaj ◽

Mohammad Alsultan ◽

Sarya Swed

Keyword(s):

Case Report ◽

Psoas Abscess ◽

First Case

Download Full-text

True Symphalangism of All Bilateral Proximal Interphalangeal Joints with Multi-carpal Coalition and Hypoplasia of the Ulnar Styloid Process

Indian Journal of Surgery ◽

10.1007/s12262-021-02900-4 ◽

2021 ◽

Author(s):

Hao Yu ◽

Chongjie Li

Keyword(s):

Case Report ◽

Range Of Motion ◽

Styloid Process ◽

Genetic Condition ◽

Ulnar Styloid ◽

Wrist Motion ◽

First Case ◽

Distal Interphalangeal ◽

Carpal Coalition ◽

Ulnar Styloid Process

AbstractSymphalangism is a rare genetic condition characterized by ankylosis of the proximal interphalangeal (PIP) or/and distal interphalangeal (DIP) joints. The patient presented with fused bilateral PIP joints and poor flexion, and an unsatisfactory range of motion (ROM) in the metacarpophalangeal (MP) and DIP joints. Concomitantly, multi-carpal coalition, proximal carpal malalignment, and ulnar styloid process abnormality were also observed in radiographs obtained at diagnosis. Rehabilitation training of the MP and DIP joints and a wrist supporter were recommended to achieve MP and DIP functional motion and restrict dramatic wrist motion. This is the first case report of symphalangism with multi-carpal coalition and abnormality of the ulnar styloid process to the best of our knowledge.

Download Full-text