Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease.

BACKGROUND AND PURPOSE: Krabbe disease (KD), or globoid cell leukodystrophy (Online Mendelian Inheritance in Man #245200), is an autosomal recessive lysosomal storage disease caused by mutations in GALC leading to galactocerebrosidase deficiency. Age at onset can vary from early infancy (3-6 months of age) to adulthood, which has rarely been reported. Little is known about the natural history and early manifestations of adult onset KD (AOKD). METHODS: Here, we report a patient with an incidental diagnosis of AOKD and discuss management options in this scenario. RESULTS: A 32-year-old woman came to medical attention because of headache and had brain magnetic resonance imaging findings compatible with AOKD, two pathogenic variants in GALC, and reduced activity of galactocerebrosidase. The jury is still out about the best management of such cases, and clinicians should be aware of this diagnosis, as AOKD is a potentially treatable condition. CONCLUSIONS: AOKD is a rare and potentially treatable condition. More studies on natural history of AOKD are urgently needed to guide the best management of this disease.

Quantificação da perda neural no papiledema crônico pela tomografia de coerência óptica e o eletrorretinograma de padrão reverso / Quantification of axonal loss in chronic papiledema from pseudotumor cerebri syndrome with frequency domain-OCT and pattern electroretinogram

OBJETIVO: Avaliar a capacidade do eletrorretinograma de padrão reverso (PERG) de campo total de detectar alterações funcionais da retina em olhos com papiledema resolvido de pacientes com a síndrome do pseudotumor cerebral (PTC). Utilizar a tomografia de coerência óptica de domínio Fourier (FD-OCT) para avaliar a espessura total e das camadas internas da retina (após segmentação dos dados) na área macular e a camada de fibras nervosas retinianas (CFNR) peripapilar em pacientes com PTC, e compará-las com aquelas de olhos normais. Estudar a correlação entre as amplitudes do PERG, as medidas da tomografia de coerência óptica (OCT) e a perda de campo visual (CV) avaliada pela perimetria computadorizada. MÉTODOS: Cinquenta e dois olhos com papiledema clinicamente resolvidos de 29 pacientes portadores de PTC foram submetidos a exame oftalmológico completo, CV, PERG e OCT. As seguintes medidas obtidas pelo OCT foram analisadas: a espessura da CFNR peripapilar, a espessura macular total (EMT), avaliada em oito setores, de acordo com o mapa do Early Treatment Diabetes Retinopathy Study, e medidas segmentadas na região da mácula da CFNR, da camada de células ganglionares (CCG) e da camada nuclear interna (CNI). Os resultados do CV foram avaliados, levando em consideração o mean deviation (MD) e os valores de diferentes regiões do CV divididos, de acordo com sua correspondência no nervo óptico, seguindo o mapa de Garway-Heath. Foram, também, calculados os desvios médios de 12 ou de 16 pontos centrais do CV, que estimulam áreas semelhantes àquelas avaliada pelo OCT macular e pelo PERG. Os achados foram comparados utilizando-se as equações de estimativas generalizadas para compensação da interdependência dos dois olhos de um mesmo indivíduo. Foram, também, calculadas e comparadas as áreas sob as curvas ROC (receiver operating characteristics). As correlações entre os achados do PERG, do OCT e do CV foram avaliadas pela correlação de Pearson ou Spearman...

PURPOSE: To evaluate the ability of the full field pattern electroretinogram (PERG) to detect functional changes of retina in eyes with resolved papiledema from patients with pseudotumor cerebri (PTC). To analyze full thickness macular measurements, peripapillary retinal nerve fiber layer (RNFL) thickness as well as segmented inner retinal layers in patients with PTC using of Fourier domain optical coherence tomography (FD-OCT) and compare them with normal eyes. To study the correlation between the PERG parameters, the optical coherence tomography (OCT) measurements and the visual field (VF) sensitivity loss, using standard automated perimetry. METHODS: Fifty-two eyes with resolved papilledema of 29 patients with PTC syndrome were submitted to a complete ophthalmic examination including VF, PERG and OCT. The following OCT measurements were analyzed: the peripapillary RNFL thickness, the total macular thickness (TMT), which was sub-divided in 8 sectors according to the Early Treatment Diabetes Retinopathy Study map, and the segmented inner macula layers, RNFL, the ganglion cell layer (GCL) and inner nuclear layer (INL). The VF results were analyzed through the mean deviation (MD) and the different sectors of the VF according to their correspondence to Garway-Heath optic nerve map. Central mean deviation, an average from VF sensitivity for the 12 and 16 central points, an area roughly equivalent to the area tested by macular cube scan protocol and PERG, was evaluated in patients and controls. Generalized estimating equation models accounting for inter-eye correlations were used to compare the results among different groups. Areas under ROC (receiver operating characteristics) curves were also calculated and compared. The correlations between the findings of the PERG, OCT and VF were assessed by Pearson correlation coefficients or Spearman's rank correlation coefficients. RESULTS: Compared to controls, the OCT thickness of the peripapillary RNFL, macular RNFL...