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).

Factors affecting visual loss and visual recovery in patients with pseudotumor cerebri syndrome.

Purpose: To investigate the frequency of visual loss (VL), possible predictive factors of VL, and improvement in patients with pseudotumor cerebri (PTC) syndrome.

Methods: We reviewed 50 PTC patients (43 females, seven males) who underwent neuro-ophthalmic examination at the time of diagnosis and after treatment. Demographic data, body mass index (BMI), time from symptom onset to diagnosis (TD), maximum intracranial pressure (MIP), occurrence of cerebral venous thrombosis (CVT), and treatment modalities were reviewed.

Relationship Between Pattern Electroretinogram, Frequency-Domain OCT, and Automated Perimetry in Chronic Papilledema From Pseudotumor Cerebri Syndrome.

Purpose: We evaluated the ability of transient pattern electroretinogram (PERG) parameters to differentiate between eyes with visual field (VF) loss and resolved papilledema from pseudotumor cerebri syndrome (PTC) and controls, to compare PERG and optical coherence tomography (OCT) with regard to discrimination ability, and to assess the correlation between PERG, frequency domain OCT (FD-OCT), and VF measurements.

Methods: The VFs and full-field stimulation PERGs based on 48 and 14-min checks were obtained from patients with PTC (n = 24, 38 eyes) and controls (n = 26, 34 eyes). In addition, FD-OCT peripapillary retinal nerve fiber layer (RNFL) and segmented macular layer measurements were obtained and correlation coefficients were determined.

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.

Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy. Whole-exome sequencing of four individuals affected by this disorder from two Brazilian families identified two previously unreported homozygous mutations in PCYT1A. This gene encodes the alpha isoform of the phosphate cytidylyltransferase 1 choline enzyme, which is responsible for converting phosphocholine into cytidine diphosphate-choline, a key intermediate step in the phosphatidylcholine biosynthesis pathway.

How variable are hydroxyproline determinations made in different samples of the same liver?

Objectives: The haphazard distribution of fibrous tissue can interfere with quantitative methods for evaluating hepatic fibrosis. Inter-sample variation may represent a crucial issue when hydroxyproline measurement is used to quantify fibrosis. A comparative study of the hydroxyproline levels in normal and fibrotic rats is herein reported.