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Fulltext Cutis Marmorata Telangiectatica Congenita Associated with Hemiatrophy

Leung AKC, Lam JM, Leong KF

Case Rep Pediatr, 2020;2020:8813809.
PMID: 33101749 DOI: 10.1155/2020/8813809

Cutis marmorata telangiectatica congenita is characterized by the presence of a bluish-purple reticulated cutaneous vascular network on the skin intermixed with telangiectasia and occasionally prominent veins at birth. Areas of the skin within the reticulated cutaneous vascular network may be normal, erythematous, atrophic, and, at times, ulcerated. Areas of ulcerations and focal cutaneous and subcutaneous atrophy occasionally occur resulting in body asymmetry. On the other hand, cutaneous and subcutaneous atrophy, extensive and severe enough leading to hemiatrophy, of the entire limb is rare. A search of the English literature revealed only eight documented cases to which we are adding two more cases.

Matched MeSH terms: Telangiectasis
Fulltext Intravitreal ranibizumab in the management of stage 2B Coats disease in a young adult Malay man

Teh SS, Ahem A, Bastion ML

BMJ Case Rep, 2013;2013.
PMID: 23774706 DOI: 10.1136/bcr-2013-009697

This paper describes a rare case of Coats disease with late presentation in a young adult. The condition improved with a combination of focal photocoagulation, cryotherapy and intravitreal ranibizumab.

Matched MeSH terms: Retinal Telangiectasis/diagnosis; Retinal Telangiectasis/drug therapy*
Fulltext Resolution of exudative retinal detachment and regression of retinal macrocyst post-laser in Coats disease

Munira Y, Zunaina E, Azhany Y

Int Med Case Rep J, 2013;6:37-9.
PMID: 23966803 DOI: 10.2147/IMCRJ.S47769

A 15-year-old boy presented with painless progressive blurring of vision in the right eye for 1 year in duration. His visual acuity in the right eye was hand movement. The right fundus showed presence of extensive subretinal exudates at the posterior pole and a retinal macrocyst at the temporal periphery. It was associated with exudative retinal detachment at the inferior periphery of the retina. Fundus angiography revealed telangiectatic retinal vessels at the superotemporal retina. Based on clinical and angiographic findings, a diagnosis of Coats disease was made. He was treated with retinal laser photocoagulation. There was resolution of the exudative retinal detachment, reduction of subretinal exudates, and regression of the retinal macrocyst with improvement of visual acuity to 1/60 post-laser therapy.

Matched MeSH terms: Retinal Telangiectasis
Fulltext Iliac Telangiectatic Osteosarcoma - A Rare Presentation and Diagnostic Pitfall: A Case Report

Khaw YC, Wong JK, Sahran Y, Nor-Azman MZ, Faisham WI

Malays Orthop J, 2020 Nov;14(3):198-201.
PMID: 33403087 DOI: 10.5704/MOJ.2011.034

Telangiectatic osteosarcoma is a rare variant of osteosarcoma and can be easily misdiagnosed as aneurysmal bone cyst. We report an atypical case of iliac telangiectatic osteosarcoma in a young healthy female, who presents with painful slow growing expansile lytic septate lesion in the left hemipelvis, which is initially treated as aneurysmal bone cyst. The diagnosis of aneurysmal bone cyst is made after histopathological examination of core needle biopsy. Her condition became unstable and massive bleeding is noted at the lesion site after sclerosant injection. She undergoes emergency hemipelvectomy and eventually the biopsy turns up to be telangiectatic osteosarcoma. Our case highlights that core needle biopsy is not useful in making diagnosis for iliac telangiectatic carcinoma. Hence, an open biopsy should be carried out in our case. This case also emphasises on careful evaluation for malignancy which is mandatory because bleeding from pelvis after an unsuitable treatment can be grave, to the extent that major amputation hemipelvectomy is an option. Even though telangiectatic osteosarcoma has the same prognosis and treatment with conventional osteosarcoma, the outcome of delayed treatment for telangiectatic osteosarcoma is not good due to the dilemma in establishing an early correct diagnosis.

Matched MeSH terms: Telangiectasis
Exudative Retinal Detachment due to Coats Disease in a Teenager with Senior-Loken Syndrome: Case Report and Review of Literature

Khairil-Ridzwan KK, Azian A, Hanizasurana H, Shatriah I

Cureus, 2019 Apr 15;11(4):e4460.
PMID: 31205846 DOI: 10.7759/cureus.4460

Senior-Loken syndrome is a rare disorder that presents in the first two decades of life. It commonly manifests with nephronophthisis and retinal dystrophy. We describe a teenager who had end-stage renal failure presenting with bilateral visual impairment due to retinal dystrophy with concomitant unilateral Coats disease and exudative retinal detachment. The patient was treated with a combination of endolaser photocoagulation and external drainage of the subretinal fluid. The final visual acuity remained poor in both eyes. Options of treatment in this challenging situation is discussed in this case report.

Matched MeSH terms: Retinal Telangiectasis
Fulltext Jejunal GIST: Hunting down an unusual cause of gastrointestinal bleed using double balloon enteroscopy. A case report

Dualim DM, Loo GH, Rajan R, Nik Mahmood NRK

Int J Surg Case Rep, 2019;60:303-306.
PMID: 31277041 DOI: 10.1016/j.ijscr.2019.06.053

INTRODUCTION: Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal neoplasms of the alimentary tract but accounts for only 0.1-3% of all gastrointestinal neoplasms. The most common presentation of GISTs is acute or chronic gastrointestinal bleeding, in which the patient presents with symptomatic anaemia.
PRESENTATION OF CASE: With that in mind, we describe a 66-year-old man who presented with recurrent episodes of obscure gastrointestinal bleeding for two years. Video capsule endoscopy (VCE) showed several small telangiectasias in the proximal small bowel. Oral route double-balloon enteroscopy (DBE) revealed abnormal mucosa 165 cm from incisor with central ulceration and vascular component. He subsequently underwent surgical excision. The histopathological report confirmed the diagnosis of GIST arising from the jejunum. During his clinic follow up, he remains symptom-free with no evidence of recurrence.
DISCUSSION: The diagnosis of bleeding small intestine GISTs can be challenging as these are inaccessible by conventional endoscopy. Imaging modalities such as double-balloon enteroscopy, capsule endoscopy, CT angiography, intravenous contrast-enhanced multidetector row CT (MDCT) and magnetic resonance enterography (MRE) have been used to assist in the diagnosis of bleeding small intestine GISTs. The mainstay of management for small intestine GIST is complete surgical excision.
CONCLUSION: Bleeding jejunal GIST is very rare and only a handful of case reports have been published. The mainstay of management for small intestine GIST is complete surgical excision. It is essential to obtain a complete excision of localised disease and avoiding tumour spillage in order to reduce the risk of local recurrence and metastatic spread of GISTs.

Matched MeSH terms: Telangiectasis