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1.
Indian J Ophthalmol ; 2011 Sept; 59(5): 398-400
Artigo em Inglês | IMSEAR | ID: sea-136218

RESUMO

We report a rare case of keratoconus with granular dystrophy with a follow-up of two decades, documenting the sequential presentation of two diseases confirmed by histology and genetic studies. A 13-year-old boy was diagnosed in 1988 with keratoconus in both eyes (BE) based on slit-lamp biomicroscopy findings of corneal ectasia in BE accompanied by Fleischer's ring, Vogt's striae, a small, old, healed hydrops. The left eye (LE) had central corneal thinning and scar in the central area involving the mid and posterior stroma secondary to healed hydrops. Penetrating keratoplasty (PKP) was advised. The boy was lost to follow-up till 1991 and presented with white, dot-like opacities in the central cornea in the RE only, suggestive of granular corneal dystrophy. Similar findings of white, dot-like opacities were noted in the LE in 1995 and the patient subsequently underwent PKP in BE. Histopathology of corneal buttons confirmed the presence of patchy, crystal-like orange deposits, which stained bright red with Masson's trichrome. Mutational analysis of the TGFBI gene in patient's DNA revealed a heterozygous mutation corresponding to a change in Arg555Trp in the keratoepithelin protein. Granular dystrophy recurred after 8 years in the RE.


Assuntos
Adolescente , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/etiologia , Distrofias Hereditárias da Córnea/cirurgia , Diagnóstico Diferencial , Seguimentos , Humanos , Ceratocone/diagnóstico , Ceratocone/fisiopatologia , Ceratocone/cirurgia , Ceratoplastia Penetrante/métodos , Masculino , Recuperação de Função Fisiológica , Fatores de Tempo , Acuidade Visual/fisiologia
2.
Journal of Korean Neurosurgical Society ; : 55-57, 2010.
Artigo em Inglês | WPRIM | ID: wpr-101192

RESUMO

Ossification of the posterior longitudinal ligament (OPLL) in the thoracic spine is rare, even in the Far East. A 45-year-old female presented with a 4-month history of progressive motor weakness in the lower extremities, numbness below the midthoracic area, and spastic gait disturbance. Neuroradiological examinations revealed massive OPLLs at the T4-T6 levels with severe anterior compression of the spinal cord. Anterior decompressive corpectomies with bone grafts were performed from T4 to T6 using a trans-thoracic approach. After surgery, the patient made an uneventful recovery. However, eleven years after surgery, the patient developed recurrent lower extremity weakness and spastic gait disturbance. De novo OPLLs at the C6-T2 levels were responsible for the severe spinal cord compression on this occasion. After second surgery, paralysis in both legs was resolved. We present a rare case of late cervicothoracic OPLL in a patient surgically treated for thoracic OPLL.


Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Ásia Oriental , Transtornos Neurológicos da Marcha , Hipestesia , Perna (Membro) , Ligamentos Longitudinais , Extremidade Inferior , Paralisia , Medula Espinal , Compressão da Medula Espinal , Coluna Vertebral , Transplantes
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