CASE REPORT OF AN ATYPICAL PRESENTATION OF CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES (CFEOM)

2021 ◽  
pp. 1-3
Author(s):  
Reena Gupta ◽  
Chekitaan Singh ◽  
Rohan Madan

INTRODUCTION: CFEOM is a disorder that includes multiple extra ocular muscle restrictions. It is a rare, non –progressive, congenital condition and refers to at least eight genetically dened strabismus syndromes. Commonly presented clinical signs and symptoms in CFEOM includes- congenital nonprogressive ophthalmoplegia (inability to move the eyes) with or without ptosis (droopy eyelids) affecting part or all of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles. Refractive errors are also common. CASE REPORT: The patient was the rst child of non-consanguineous parents. There was no similar history or any history of ocular motility disorders in family in both paternal and maternal side. There is no prior history of use of glasses, occlusion therapy, surgery or trauma. Typically, binocular vision is absent. The child had difculty looking at objects in downgaze, up gaze and laterally. They also observed outward deviation of both eyes which was more for distance. Child had normal weight for age (30 kgs) Head circumference was within normal range (57 cm) There was absence of lid crease in both eyes and chin up head posture was seen for distance. No facial asymmetry was seen. Patient was able to spontaneously alternate xate in the primary position. Patient had hypertropia of 6 prism diopters in left eye when xing with right eye and hypertropia was same in upgaze and downgaze. No evidence of globe retraction on ocular movements. Patient had history of ocular deviation since birth which had not changed over the years. Mutations in the KIF21A gene are the primary cause of CFEOM1. Patients typically have convergent-type nystagmus movements with attempted up gaze (synergistic convergence) and an A pattern with divergence of the eyes in downgaze. There was no associated neurologic abnormalities and systemic disorders. The patient was found to have bilateral lagophthalmos, limitation of elevation and depression (vertical gazes). The patient underwent two surgeries. In the rst surgery, B/L LR RC (14mm from limbus) and B/L SR RC(11mm)was done. DISCUSSION: Congenital brosis of extraocular muscles is a common condition encountered by pediatric ophthalmologists. If not properly diagnosed, it is often confused with other ocular motility disorders. The treatment of CFEOM must focus on specic pattern of decit and include management of head position, ocular alignment in primary position and maximizing outcome by preventing ambylopia. Currently no treatment has been developed to restore full functionality and range of motion of the extraocular muscles. Patients presenting with CFEOM1 usually require large bilateral inferior rectus recessions, often enhanced with bilateral superior oblique tenotomies to allow the eyes to come to vertical midline. Patient might also need multiple strabismus surgeries like with our patient. CFEOM is often associated with potential complications like strabismus, decreased binocular vision, ambylopia and facial palsy.

1978 ◽  
Vol 208 (1-3) ◽  
pp. 193-205 ◽  
Author(s):  
M. Berard-Badier ◽  
J. F. Pellissier ◽  
M. Toga ◽  
N. Mouillac ◽  
P. V. Berard

2019 ◽  
Vol 5 (2) ◽  
pp. 205511691989154
Author(s):  
Kaitlin P Hopke ◽  
Sandra J Sargent

Case summary A 9-year-old neutered male domestic shorthair cat was presented for multiple deep lesions on all four limbs and a nodule on the right pinna. The limb lesions ranged from nodules with necrotic surfaces to full-thickness ulcerations with exposure of muscles and tendons. The cat lived indoors only in a single-pet household and had no prior history of trauma. The owner reported that the lesions appeared abruptly and that the cat was not apparently painful or pruritic. Histopathology of the limb lesions and pinnal nodule confirmed severe lesions of the eosinophilic granuloma complex. Resolution of lesions was achieved with a combination of antibiotics, prednisolone, topical therapies, diet change and ciclosporin. Relevance and novel information This case report demonstrates a severe, aggressive presentation of eosinophilic granuloma complex. It will expose practitioners to atypical clinical signs of this commonly diagnosed disease.


Author(s):  
Ayse Gul Kocak Altintas ◽  
Ayse Gul Kocak Altintas

Duane retraction syndrome is the most frequently seen restrictive ocular motility disorders. It is clinically presented with limitation of horizontal movement, variable amounts of upshoots or downshoots and globe retraction combined with narrowing of the palpebral aperture on attempted adduction. An 8-year-old patient presented with severe restriction of abduction, reciprocal upshots or downshoots, and globe retraction combined with the palpebral fissure narrowing of on adduction. After the modified Y splitting of LR and recession of both horizontal rectus operation, all cosmetically disfiguring clinical features disappeared. In this case report modified Y splitting procedure and its long-term efficacy is presented.


Author(s):  
Devasee Borakhatariya ◽  
A. B. Gadara

Oesophageal disorders are relatively uncommon in large animals. Oesophageal obstruction is the most frequently encountered clinical presentation in bovine and it may be intraluminal or extra luminal (Haven, 1990). Intraluminal obstruction or “choke” is the most common abnormality that usually occurs when foreign objects, large feedstuff, medicated boluses, trichobezoars, or oesophageal granuloma lodge in the lumen of the oesophagus. Oesophageal obstructions in bovine commonly occur at the pharynx, the cranial aspect of the cervical oesophagus, the thoracic inlet, or the base of the heart (Choudhary et al., 2010). Diagnosis of such problem depends on the history of eating particular foodstuff and clinical signs as bloat, tenesmus, retching, and salivation


2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Ko Ikegame ◽  
Makoto Hikage ◽  
Satoshi Kamiya ◽  
Yutaka Tanizawa ◽  
Etsuro Bando ◽  
...  

2021 ◽  
Author(s):  
Gabriel Kim ◽  
Willie Banks ◽  
Bahman Sadr ◽  
Edina Paal ◽  
Jabari Martin

ABSTRACT Patients with sarcoidosis have an indolent course in which the disease is not detected unless seemingly benign symptoms appear. Such was the case in a 42-year-old man who was referred to the orthopedic service for evaluation of a slowly enlarging mass over the left wrist without prior history of trauma. In this article, we will review the symptoms and histopathology of sarcoidosis with a particular focus on orthopedic manifestations of the disease. We believe that clinicians should be aware of these associations so that patients can be diagnosed and treated accordingly.


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