Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review.

Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness. Wolfram syndrome, however, is phenotypically heterogenous with variable clinical manifestations and age of onset. We describe four cases of genetically confirmed Wolfram syndrome with variable presentations, including acute-on-chronic vision loss, dyschromatopsia, and tonic pupils. All patients had optic atrophy, only three had diabetes, and none exhibited the classic Wolfram phenotype. MRI revealed a varying degree of the classical features associated with the syndrome, including optic nerve, cerebellar, and brainstem atrophy. The cohort's genotype and presentation supported the reported phenotype-genotype correlations for Wolfram, where missense variants lead to milder, later-onset presentation of the Wolfram syndrome spectrum. When early onset optic atrophy and/or diabetes mellitus are present in a patient, a diagnosis of Wolfram syndrome should be considered, as early diagnosis is crucial for the appropriate referrals and management of the associated conditions. Nevertheless, the condition should also be considered in otherwise unexplained, later-onset optic atrophy, given the phenotypic spectrum.

Imaging of Facial Reconstruction and Face Transplantation.

Pre- and postoperative imaging is increasingly used in plastic and reconstructive surgery for the evaluation of bony and soft tissue anatomy. Imaging plays an important role in preoperative planning. In the postoperative setting, imaging is used for the assessment of surgical positioning, bone healing and fusion, and for the assessment of early or delayed surgical complications. This article will focus on imaging performed for surgical reconstruction of the face, including orthognathic surgery, facial feminization procedures for gender dysphoria, and face transplantation.

Clinical Use of Integrated Positron Emission Tomography-Magnetic Resonance Imaging for Dementia Patients.

Combining magnetic resonance imaging (MRI) with 2-deoxy-2-F-fluoro-D-glucose positron emission tomography (FDG-PET) data improve the imaging accuracy for detection of Alzheimer disease and related dementias. Integrated FDG-PET-MRI is a recent technical innovation that allows both imaging modalities to be obtained simultaneously from individual patients with cognitive impairment. This report describes the practical benefits and challenges of using integrated FDG-PET-MRI to support the clinical diagnosis of various dementias. Over the past 7 years, we have performed integrated FDG-PET-MRI on >1500 patients with possible cognitive impairment or dementia. The FDG-PET and MRI protocols are the same as current conventions, but are obtained simultaneously over 25 minutes. An additional Dixon MRI sequence with superimposed bone atlas is used to calculate PET attenuation correction. A single radiologist interprets all imaging data and generates 1 report. The most common positive finding is concordant temporoparietal volume loss and FDG hypometabolism that suggests increased risk for underlying Alzheimer disease. Lobar-specific atrophy and FDG hypometabolism patterns that may be subtle, asymmetric, and focal also are more easily recognized using combined FDG-PET and MRI, thereby improving detection of other neurodegeneration conditions such as primary progressive aphasias and frontotemporal degeneration. Integrated PET-MRI has many practical benefits to individual patients, referrers, and interpreting radiologists. The integrated PET-MRI system requires several modifications to standard imaging center workflows, and requires training individual radiologists to interpret both modalities in conjunction. Reading MRI and FDG-PET together increases imaging diagnostic yield for individual patients; however, both modalities have limitations in specificity.

Bedside upper gastrointestinal series in critically ill low birth weight infants.

BACKGROUND: The upper gastrointestinal (UGI) series is the preferred method for the diagnosis of malrotation. A bedside UGI technique was developed at our institution for use in low birth weight, critically ill neonates to minimize the risks of transportation from the neonatal intensive care unit (NICU) such as hypothermia and dislodgement of support lines and tubes. OBJECTIVE: To determine the ability of a bedside UGI technique to identify the position of the duodenojejunal junction (DJJ) in low birth weight, critically ill infants in the NICU. MATERIALS AND METHODS: We retrospectively reviewed bedside UGI examinations performed in premature infants weighing less than 1,500 g from 2008 to 2013 and correlated the findings with clinical data, imaging studies and surgical findings. RESULTS: Of 27 patients identified (weight range: 633-1,495 g), 21 (78%) bedside UGI series were diagnostic. Twenty of 27 cases (74%) demonstrated normal intestinal rotation. One case demonstrated malrotation with midgut volvulus, which was confirmed at surgery. In six cases (22%), the position of the DJJ could not be accurately determined. No cases of malrotation with midgut volvulus were missed. None of the patients with normal bedside UGI studies was found to have malrotation based on clinical follow-up (mean: 20 months), surgical findings or further imaging. CONCLUSION: The bedside UGI is a useful technique to exclude malrotation in critically ill neonates and minimizes potential risks of transportation to the radiology suite. Pitfalls that may preclude a diagnostic examination include incorrect timing of radiographs, patient rotation, suboptimal enteric tube position and bowel distention. In cases of diagnostic uncertainty, a follow-up study should be performed.