Assuntos
Neoplasias da Retina , Retinoblastoma , Lactente , Humanos , Retinoblastoma/complicações , Retinoblastoma/tratamento farmacológico , Neoplasias da Retina/complicações , Neoplasias da Retina/tratamento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica , Estudos Retrospectivos , Enucleação Ocular , Resultado do TratamentoRESUMO
BACKGROUND: Retinoblastoma (RB) is the most common primary childhood intraocular malignancy and usually presents before the age of 4 years. RB in late childhood is rare and may pose a diagnostic challenge to clinicians. MATERIALS AND METHODS: Patients over the age of 4 years with RB were identified retrospectively. Clinical data, histological findings, and molecular genetic diagnoses were obtained. RESULTS: Two cases of late onset RB were identified. Case 1 was a 10-year-old boy who presented with floaters, and was found to have a unilateral exudative retinal detachment and RB on clinical examination. Genetic testing showed a novel homozygous mutation in exon 20 of the RB1 gene in the tumor sample, c.2027_2034dup, resulting in p.Ile679X. No mutation was found in the DNA obtained from the peripheral blood sample. Case 2 was a 6-year-old boy who presented with loss of vision and pain in the left eye. RB was diagnosed on clinical examination with exudative retinal detachment. Genetic testing showed no mutation in the RB1 gene, but complete methylation of the RB1 promoter region. CONCLUSIONS: RB can rarely present in late childhood. Clinicians should consider RB as a diagnosis when faced with a patient with unexplained exudative retinal detachment.
Assuntos
Genes do Retinoblastoma , Mutação , Neoplasias da Retina/genética , Proteína do Retinoblastoma/genética , Retinoblastoma/genética , Antineoplásicos/uso terapêutico , Criança , Metilação de DNA , Análise Mutacional de DNA , Diagnóstico Diferencial , Éxons/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Técnicas de Diagnóstico Molecular , Reação em Cadeia da Polimerase , Descolamento Retiniano/diagnóstico , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/tratamento farmacológico , Retinoblastoma/diagnóstico , Retinoblastoma/tratamento farmacológico , Estudos Retrospectivos , Análise de Sequência de DNA , Acuidade VisualRESUMO
BACKGROUND: The management of children with oculomotor nerve palsy is complicated by their variable presentation, amblyopia, potential loss of binocularity, and associated neurological disease. Our purpose was to evaluate the causes, neurological associations, treatment, and sensorimotor outcomes of a group of children who developed oculomotor nerve palsy. METHODS: We identified 18 children aged 14 years or younger, of whom 13 (72%) were less than 8 years old, through a retrospective record review of all children with oculomotor nerve palsy seen between January 1995 and January 2001 by one of the authors (C.J.L.). RESULTS: Congenital-onset oculomotor nerve palsy was the most frequent presentation, followed by traumatic, neoplastic, vascular, and migrainous or para-infectious etiologies. Pupil sparing was seen in 1 patient with neoplastic etiology. Primary aberrant regeneration was the presenting sign in a child with neurofibromatosis type 2. Amblyopia developed in 7 (39%) children and was successfully treated in 5 of the 7 (71%). Stereopsis was maintained in 6 (33%) children of whom 2 were within the amblyogenic age group. Six (33%) patients underwent strabismus surgery, and 3 of them (50%) achieved orthotropia and maintained stereopsis. INTERPRETATION: Children with oculomotor nerve palsy require neuroimaging. Their pupillary signs, unlike those of adults, are not helpful in differentiating compressive etiologies from other causes. Good visual acuity was obtained in children within the amblyogenic age group with appropriate occlusion therapy. Stereopsis was uncommon in children who developed third nerve palsy during the amblyogenic period; preservation of stereopsis was dependent either on rapid and complete recovery, or on the child's adoption of a compensatory head position.