Speech, language, and hearing function in twins with Alport syndrome: A seven-year retrospective case report

Purpose: Ocular features of Alport syndrome include anterior lenticonus, posterior polymorphous corneal dystrophy, and fleck-and-dot retinopathy in most cases. Keratoconus in such patients has been rarely mentioned in previous studies. To our knowledge, this is the first report of corneal cross-linking for halting the progression of keratoconus in a patient with Alport syndrome. Case report: A 22-year-old male was referred for his initial corneal topography, after he was already prescribed with rigid gas-permeable contact lenses. Alport syndrome was diagnosed in his infancy and gene COL4A5 mutation was confirmed. Ophthalmological evaluation confirmed keratoconus. One-year follow-up showed a progression on his right eye and standard corneal cross-linking was performed. Stabilization of the disease marked by normalization in visual function and corneal tomography values was noticed 1 year after the procedure. Conclusions: When diagnosing ocular clinical findings of Alport syndrome, keratoconus should be considered. Standard corneal cross-linking protocol can halt its progression.

Download Full-text

Surgical management, optical considerations and refractive outcomes in anterior lenticonus associated with Alport syndrome: A case report

Journal Français d Ophtalmologie ◽

10.1016/j.jfo.2020.09.013 ◽

2021 ◽

Author(s):

K. Bradly ◽

P. Zeboulon ◽

R. Rampat ◽

D. Gatinel

Keyword(s):

Case Report ◽

Surgical Management ◽

Alport Syndrome ◽

Refractive Outcomes ◽

Anterior Lenticonus

Download Full-text

Intractable Headaches in a Patient with Alport Syndrome with No Evidence of Brain Lesions-A Case Report

Journal of Pain & Relief ◽

10.4172/2167-0846.1000278 ◽

2016 ◽

Vol 06 (01) ◽

Author(s):

Mitchell Stotland

Keyword(s):

Case Report ◽

Alport Syndrome ◽

Brain Lesions

Download Full-text

Alport Syndrome: The Eye as a Window to the Human Body

10.26715/jbms.33_2021_3_8 ◽

2021 ◽

Vol 33 (3) ◽

pp. 46-48

Author(s):

Aysha Tareq Nusef ◽

Abdulla Almoosa ◽

Wael Wagih Aly

Keyword(s):

Hearing Loss ◽

Case Report ◽

Renal Insufficiency ◽

Sensorineural Hearing Loss ◽

Alport Syndrome ◽

Crystalline Lens ◽

Secondary Hypertension ◽

Sensorineural Hearing ◽

Blurred Vision ◽

Ophthalmic Manifestations

Alport syndrome (AS) is a rare genetic disease affecting type four collagen production, causing renal, auditory, and ophthalmic manifestations. This case report is about a 32-year-old male who was a known case of renal insufficiency and secondary hypertension and was referred to the ophthalmology department due to blurred vision. Based on the patient‘s history and ophthalmological findings, AS was diagnosed. Ophthalmic examination showed anterior lenticonus associated with sensorineural hearing loss (SNHL) and impaired renal function. This clinical case report sheds light on the role of ophthalmology in diagnosing AS. Keywords: Collagen, Crystalline lens, Hereditary nephritis, Ophthalmology, Renal insufficiency, Sensorineural hearing loss

Download Full-text

Tratamento cirúrgico do ceratocisto odontogênico por meio de enucleação e osteotomia periférica: relato de caso

ARCHIVES OF HEALTH INVESTIGATION ◽

10.21270/archi.v9i6.4776 ◽

2020 ◽

Vol 9 (6) ◽

pp. 531-534

Author(s):

Diogo Henrique Marques ◽

Maylson Alves Nogueira Barros ◽

Vitor Bruno Teslenco ◽

Cláudio Marcio Santana Junior ◽

Lucas Marques Meurer ◽

...

Keyword(s):

Case Report ◽

Meta Analysis ◽

Benign Lesion ◽

Dentigerous Cyst ◽

Case Series ◽

Odontogenic Keratocyst ◽

Imaging Features ◽

Retrospective Case ◽

Odontogenic Keratocysts

Introdução: Os ceratocistos odontogênicos (CCA) são considerados raros cistos de desenvolvimento, derivados dos remanescentes da lâmina dentária, com atividade intraóssea benigna, porém localmente invasivo e agressivo. O tratamento para o ceratocisto odongênico é variado, podendo-se encontrar modalidades tais como:enucleação, isolada ou associada a curetagem, com osteotomia periférica, aplicação da solução de Carnoy ou crioterapia, descompressão, marsupialização e ressecções. Objetivo: O presente trabalho tem como objetivo relatar um caso de ceratocisto odontogênico, onde foi escolhida abordagem conservadora por curetagem e osteotomia periférica. Relato de caso: Paciente de 68 anos, leucoderma, referiu ao exame clínico dor espontânea em região retromolar esquerda e parestesia em lábio inferior. A paciente foi submetida a biopsia por aspiração e excisional, após confirmação histopatológica foi proposto uma enucleação associada a osteotomia periférica sob anestesia geral. A paciente permanece em acompanhamento clínico e radiográfico, sem sinais de recidiva da lesão. Conclusão: Embora apresentem um comportamento agressivo, os ceratocistos odontogêncios podem ser tratados com segurança, de forma conservadora, por meio de enucleação seguida de osteotomia periférica com mínimo de morbidade. Descritores: Osteotomia; Curetagem; Cistos Odontogênicos. Referências Borghesi A, Nardi C, Giannitto C, Tironi A, Maroldi R, Di Bartolomeo F, Preda L. Odontogenic keratocyst: imaging features of a benign lesion with an aggressive behaviour. Insights Imaging. 2018 Oct;9(5):883-897. Park JH, Kwak EJ, You KS, Jung YS, Jung HD. Volume change pattern of decompression of mandibular odontogenic keratocyst. Maxillofac Plast Reconstr Surg. 2019 Jan 7;41(1):2. Karaca C, Dere KA, Er N, Aktas A, Tosun E, Koseoglu OT, Usubutun A. Recurrence rate of odontogenic keratocyst treated by enucleation and peripheral ostectomy: Retrospective case series with up to 12 years of follow-up. Med Oral Patol Oral Cir Bucal. 2018 Jul 1;23(4):e443-e448. Guerra LAP, Silva PS, Dos Santos RLO, Silva AMF, Albuquerque DP. Tratamento conservador de múltiplos tumores odontogênicos ceratocístico em paciente não sindrômico. Rev cir traumatol. buco-maxilo-fac. 2013; 13(2):43-50. Sundaragiri KS, Saxena S, Sankhla B, Bhargava A. Non syndromic synchronous multiple odontogenic keratocysts in a western Indian population: A series of four cases. J Clin Exp Dent. 2018;10(8):e831-6. Freitas AD, Veloso DA, Santos ALF, Freitas VA. Maxillary odontogenic keratocyst: a clinical case report. RGO Rev Gaúch Odontol. 2015; 63(4):484-88. Madhireddy MR, Prakash AJ, Mahanthi V, Chalapathi KV. Large Follicular Odontogenic Keratocyst affecting Maxillary Sinus mimicking Dentigerous Cyst in an 8-year-old Boy: A Case Report and Review. Int J Clin Pediatr Dent. 2018 Jul-Aug;11(4):349-351. Moura BS, Cavalcante MA, Hespanhol W. Tumor odontogênico ceratocistico. Rev Col Bras Cir., 2016;43(6):466-71. Valori FP, Costa E, Buscatti MY, Oliveira JX, Costa C. Tumor odontogênico queratocístico: características intrínsecas e elucidação da nova nomenclatura do queratocisto odontogênico. J Health Sci Inst. 2010;28(1):80-3. Slusarenko da Silva Y, Stoelinga PJW, Naclério-Homem MDG. The presentation of odontogenic keratocysts in the jaws with an emphasis on the tooth-bearing area: a systematic review and meta-analysis. Oral Maxillofac Surg. 2019;23(2):133-47.

Download Full-text

Is choriocapillaris the early target in acute maculopathy secondary to hand, foot, and mouth disease? A case report

European Journal of Ophthalmology ◽

10.1177/1120672120982522 ◽

2020 ◽

pp. 112067212098252

Author(s):

Pietro Maria Talli ◽

Edlira Bendo ◽

Emilio Pedrotti ◽

Alberto Pazzaglia

Keyword(s):

Case Report ◽

Foot And Mouth Disease ◽

Mouth Disease ◽

Ocular Involvement ◽

Primary Target ◽

Retrospective Case ◽

First Case ◽

Foot And Mouth ◽

Acute Maculopathy

Purpose: To report the case of a 33-year old man who disclosed the first case of bilateral ocular involvement of hand, foot, and mouth disease (HFMD) with a different stage of the disease in each eye. Methods: Retrospective case report. Results: The study included a patient who incurred in a bilateral HFMD maculopathy. During 6 months follow-up period persistent abnormalities in fundus examination and in OCT scans were reported. Conclusion: We consider that our case shows that choriocapillaris is the primary target of HFMD maculopathy, for this reason we consider that ICGA is mandatory for early diagnosis and an effective treatment.

Download Full-text

Ring-stripping retrograde common carotid endarterectomy: case report

Sao Paulo Medical Journal ◽

10.1590/s1516-31802002000500007 ◽

2002 ◽

Vol 120 (5) ◽

pp. 154-157 ◽

Cited By ~ 11

Author(s):

Eduardo Toledo de Aguiar ◽

Alex Lederman ◽

Patrícia Matsunaga

Keyword(s):

Case Report ◽

Carotid Endarterectomy ◽

Artery Bypass ◽

Tertiary Care ◽

Retrospective Case ◽

Total Occlusion ◽

Cervical Incision ◽

The Common ◽

The Right

CONTEXT: Total occlusion of the common carotid is rare and the indications and techniques for surgical treatment are still a matter of controversy. OBJECTIVE: To demonstrate the feasibility of retrograde common carotid endarterectomy. DESIGN: Retrospective case report study. SETTING: Tertiary care private hospital. PARTICIPANTS: Three patients underwent ring-stripping retrograde common carotid endarterectomy. Their ages were 81, 68 and 65 years. All were hypertensive with generalized atherosclerosis, two had diabetes mellitus, and one had undergone coronary artery bypass some years earlier and had non-dialytic chronic renal insufficiency. Symptoms of brain ischemia were present in two patients. All patients had total occlusion of the common carotid, extending from the origin to the bifurcation and localized in the right common carotid in two cases. In two cases the internal carotid artery was also occluded. MAIN MEASUREMENTS: Postoperative early mortality and stroke rate, and the medium and long-term endarterectomy patency. RESULTS: There were no deaths. One patient had a transient ischemic attack. All endarterectomies were patent after eight months, four years and seven years of follow-up. CONCLUSION: There is low mortality, and the procedure can be done through only one cervical incision. Tandem lesions of the carotid arteries can be treated together. It is suitable for long total occlusions of the common carotid, and long-term patency.

Download Full-text

CRPS of Lower Extremity– A Case Report and Review

Indian Journal of Physical Medicine and Rehabilitation ◽

10.5005/ijopmr-27-1-22 ◽

2016 ◽

Vol 27 (1) ◽

pp. 22-28

Author(s):

Mahima Agrawal

Keyword(s):

Case Report ◽

Lower Extremity ◽

Lower Limb ◽

Relaxation Training ◽

Single Case ◽

Case Series ◽

Pain Syndrome ◽

Type I ◽

Retrospective Case ◽

Single Case Report

Abstract Complex regional pain syndrome (CRPS) of the lower limb is a relatively uncommon entity as compared to CRPS of the upper extremity. Literature search has revealed only 2 retrospective case series and a single case report of lower extremity CRPS type I from 1975 to 2014 on Pubmed, isolated cases of CRPS type I of lower extremity have also been reported following knee surgeries and arthroscopies. This report presents a case of lower limb CRPS type I following blunt trauma to right foot, treatment of which was directed towards management of allodynia, vasomotor symptoms and surgical correction of deformity which had developed because of the disease, coping mechanisms were also reinforced through counselling and relaxation training. The individual responded well to treatment with a reported 75% reduction in the disabling symptoms and improvement in ambulatory status.

Download Full-text