scholarly journals Distinctive Severe Ocular Abnormalities and Epilepsy Accompanied by a Novel ZEB2 Mutation in a Child with Mowat-Wilson Syndrome

Author(s):  
Soyoung Park ◽  
Yun Jung Hur ◽  
Jin Sook Yoon ◽  
Mi-Ae Jang
Keyword(s):  
2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Butchibabu Kalakonda ◽  
Koppolu Pradeep ◽  
Ashank Mishra ◽  
Krishnanjaneya Reddy ◽  
Tupili Muralikrishna ◽  
...  

Sturge-Weber syndrome (SWS) is a sporadic disorder and is frequent among the neurocutaneous syndromes specifically with vascular predominance. This syndrome consists of constellation of clinical features like facial nevus, seizures, hemiparesis, intracranial calcifications, and mental retardation. It is characterized by focal port-wine stain, ocular abnormalities (glaucoma), and choroidal hemangioma and leptomeningeal angioma most often involving occipital and parietal lobes. The present paper reports three cases of SWS with oral manifestations and periodontal management, which included thorough scaling and root planing followed by gingivectomy with scalpel and laser in cases 1 and 3 consecutively to treat the gingival enlargement. However, the treatment in case 2 was deferred as the patient was not a candidate for periodontal surgery.


1997 ◽  
Vol 18 (3) ◽  
pp. 151-156 ◽  
Author(s):  
L. M. Walsh ◽  
S. A. Lynch ◽  
M. P. Clarke

1983 ◽  
Vol 2 (3) ◽  
pp. 135-138
Author(s):  
E. Rinaldi ◽  
G. Andria ◽  
G. P. Stoppoloni ◽  
E. del Giudice ◽  
G. Auricchio

Ophthalmology ◽  
1979 ◽  
Vol 86 (6) ◽  
pp. 1145-1158 ◽  
Author(s):  
Daniel M. Albert ◽  
James J. Nordlund ◽  
Aaron B. Lerner
Keyword(s):  

2013 ◽  
Vol 92 (4) ◽  
pp. 305-310 ◽  
Author(s):  
Richard Hollingsworth ◽  
Amanda K. Ludlow ◽  
Arnold Wilkins ◽  
Richard Calver ◽  
Peter M. Allen

1982 ◽  
Vol 4 (3) ◽  
pp. 71-73
Author(s):  
J. Allen Gammon

Many abnormalities of the visual system in infants and young children respond to treatment when instituted at an early age. Ocular abnormalities that require early recognition and therapy include congenital cataracts, congenital glaucoma, intraocular tumors, intraocular inflammation, large errors of refraction, strabismus, and corneal opacities (Figs 1 to 6). The visual prognosis for children with these problems is often directly related to early detection and treatment of the visual disorder. Visual deprivation of young laboratory animals can permanently damage their developing central nervous system. Diseases once believed hopeless, such as monocular congenital cataracts, can now be treated.1 Technologic advances, such as extended-wear contact lenses which are useful for infants who have had cataract surgery during the first few weeks of life, have facilitated visual rehabilitation of young eyes. Corneal opacities, complete ptosis, prolonged patching, and eyelid or orbit abnormalities such as large hemangiomas can cause amblyopia if the vision is obstructed. Even brief occlusion can result in irreversible amblyopia during the early months of life.2 Unilateral disruptions of vision are generally more damaging to the eye than are bilateral ocular abnormalities. Each of the young child's eyes must enjoy a clear, focused retinal image for visual development to progress normally. Early diagnosis and treatment of congenital glaucoma is important so that intraocular pressure can be lowered, thereby, avoiding irreversible anatomic damage to the eye.


1986 ◽  
Vol 102 (3) ◽  
pp. 346-348 ◽  
Author(s):  
Michael O'Keefe ◽  
John S. Crawford ◽  
James D.H. Young ◽  
William G. Macrae
Keyword(s):  

1970 ◽  
Vol 1 (1) ◽  
pp. 23-25
Author(s):  
Md Sanwar Hossain ◽  
Mahbuba Ashrafi Mumu ◽  
Md Moyenuddin PK

Primary Empty Sella Syndrome (PES) is a relatively rare or uncommon developmental disease that develops spontaneously. It is characterized by herniation of subarachnoid space within the sella which is often associated with some degree of flattening of pituitary gland. Usually manifested by endocrine abnormalities, ocular abnormalities, rhinitis and intractable persistent headache. It is higher in obese females having multiple pregnancies. Here we report a case of empty sella syndrome in a 27 year old lady to aware the physicians to bear in mind a differential in patients having persistent intractable headache. Key words: Empty Sella Syndrome; Woman; Obesity; Intractable Headache DOI: 10.3329/akmmcj.v1i1.7456 Anwer Khan Modern Medical College Journal 2010; 1(1): 23-25


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