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1.
J Ayub Med Coll Abbottabad ; 30(3): 476-478, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30465390

RESUMO

Joubert syndrome is a rare autosomal recessive disorder predominantly involving the cerebellar vermis and brain stem. It is characterized clinically by global developmental delay, abnormal ocular movements, hypotonia, ataxia, intellectual disability and neonatal breathing abnormalities. Due to its uncommon and unconventional presentation, its diagnosis is usually delayed. Diagnosis of this atypical disease essentially relies upon the atypical finding of the "molar tooth" sign on Magnetic Resonance Imaging (MRI). We report a case of a 5-year-old boy who presented with abnormal eye movements, regression of milestones and developmental delay. MRI investigation revealed the distinctive molar tooth sign and bat wing shaped 4th ventricle. It requires high levels of clinical suspicion and holistic approach to such children who present with delayed milestones and abnormal eye movements, to reach at early detection and diagnosis of such rare pathologies.


Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Cerebelo/anormalidades , Anormalidades do Olho/diagnóstico por imagem , Doenças Renais Císticas/diagnóstico por imagem , Imageamento por Ressonância Magnética , Retina/anormalidades , Cerebelo/diagnóstico por imagem , Pré-Escolar , Deficiências do Desenvolvimento/etiologia , Anormalidades do Olho/complicações , Humanos , Doenças Renais Císticas/complicações , Masculino , Transtornos da Motilidade Ocular/etiologia , Retina/diagnóstico por imagem
2.
J Ayub Med Coll Abbottabad ; 26(1): 98-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25358230

RESUMO

Dengue fever is endemic in the tropics and subtropics and has become a worldwide health threat in recent years. Dengue-related ocular complications are increasingly being reported from countries in South-East Asia. The authors report the first documented case of a patient with dengue fever who developed central retinal artery occlusion in addition to many other eye complications such as severe ptosis and complete internal and external ophthalmoplegia during her convalescent phase. The disease was confirmed by specific serological tests. Despite treatment, severe visual impairment occurred in this case.


Assuntos
Dengue/complicações , Oclusão da Artéria Retiniana/virologia , Feminino , Humanos , Pessoa de Meia-Idade , Baixa Visão/virologia
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