RESUMO
Key features of Joubert syndrome include developmental delay, hypotonia, hyperpnea and apnea, oculomotor apraxia, and the presence of the molar tooth sign on axial imaging through the brainstem isthmus--the junction of the pons and mesencephalon. Interestingly, 1 in 10 patients with Joubert syndrome has abnormal cerebrospinal fluid collections misdiagnosed as Dandy-Walker variants. Because of important differences in patient management, genetic counseling, and prognosis between these conditions, we undertook a study to determine if the brainstem isthmus is normal in Dandy-Walker syndrome. Using standard landmarks, we evaluated development of the isthmus in normal subjects and in subjects with Joubert syndrome and Dandy-Walker syndrome. Four of five brainstem measures increased with age in normal subjects. In subjects with Joubert syndrome, the depth and length of the interpeduncular fossa were increased, and the width of the isthmus was decreased. In subjects with Dandy-Walker syndrome, the width of the brainstem isthmus was normal, and the molar tooth sign was absent. Although the pons can be hypoplastic in Dandy-Walker syndrome, we conclude that the pontomesencephalic junction is normal. Thus, the molar tooth sign can effectively distinguish between Joubert and Dandy-Walker syndromes. Genetic heterogeneity or epigenetic factors may account for abnormal cerebrospinal fluid collections in some cases of Joubert syndrome.
Assuntos
Tronco Encefálico/anormalidades , Síndrome de Dandy-Walker/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Imageamento por Ressonância Magnética , Hipotonia Muscular/diagnóstico , Malformações do Sistema Nervoso/diagnóstico , Adolescente , Apraxias/diagnóstico , Apraxias/genética , Tronco Encefálico/patologia , Criança , Pré-Escolar , Síndrome de Dandy-Walker/genética , Deficiências do Desenvolvimento/genética , Diagnóstico Diferencial , Feminino , Aconselhamento Genético , Humanos , Lactente , Masculino , Mesencéfalo/anormalidades , Mesencéfalo/patologia , Hipotonia Muscular/genética , Malformações do Sistema Nervoso/genética , Ponte/anormalidades , Ponte/patologia , Valores de ReferênciaRESUMO
Approximately 2% of the estimated 24,000 patients in the United States who contract cat-scratch disease annually develop neurologic complications. Between 1989 and 1999, 36 patients were admitted to our hospital with cat-scratch disease; 25% had neurologic complications, and the majority experienced lengthy hospital stays. We describe a case of cat-scratch disease encephalopathy in a 4-year-old girl who responded to high-dose corticosteroid therapy. Further studies are warranted to determine if corticosteroid therapy shortens the duration of symptoms, lessens the severity of disease, and ultimately improves the outcome for patients with cat-scratch disease encephalopathy.