A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.

Sjögren-Larsson syndrome (SLS) is a rare neurologic disorder caused by pathogenic sequence variants in ALDH3A2 and characterized by ichthyosis, spasticity, intellectual disability, and a crystalline retinopathy. Neurologic symptoms develop in the first 2 years of life. Except for worsening ambulation due to spastic diplegia and contractures, the neurologic disease has been considered static and a neurodegenerative course is distinctly unusual. We describe a young child with Sjögren-Larsson syndrome who exhibited an early and severely progressive neurologic phenotype that may have been triggered by a febrile rotavirus infection. Together with 7 additional published cases of these atypical patients, we emphasize that a neurodegenerative course can be an extreme outcome for a minority of patients with Sjögren-Larsson syndrome.

Second trimester fetal MRI features in a fetus with TUBB3 gene mutation.

Tubulinopathies are a heterogeneous group of complex cortical malformations that are associated with mutations in tubulin genes. TUBB3 gene mutation is associated with a broader spectrum of central nervous system malformations and constitutes about 10% of all tubulinopathies. The diagnosis may not be immediately apparent on imaging, though the differential diagnosis may be narrowed based on imaging findings and allow for more directed genetic testing. We report a 22-year-old gravida-1 nulliparous female whose routine second trimester fetal ultrasound revealed ventriculomegaly and possible agenesis of the corpus callosum. Fetal magnetic resonance imaging showed severe lateral and third ventriculomegaly and a dysplastic, z-shaped brainstem without any evidence of ocular abnormalities. Genetic testing revealed a pathogenic mutation in TUBB3.

Feasibility of rapid magnetic resonance imaging (rMRI) for the emergency evaluation of suspected pediatric orbital cellulitis.

PURPOSE: To determine the feasibility of noncontrast rapid magnetic resonance imaging (rMRI), compared with traditional contrast-enhanced computed tomography (CT) in assessing pediatric emergency department patients with suspected orbital cellulitis or orbital abscess. METHODS: All subjects <19 years of age who presented emergently with suspected orbital cellulitis from July 1, 2017, to July 31, 2019, were included. Participants received both the standard contrast orbital CT, if deemed necessary, with the addition of the noncontrast rMRI after informed consent was obtained. No sedation was used for either examination. All clinical decisions were based on CT findings; rMRI was interpreted within 24 hours of the visit. Three pediatric radiologists, with 8-21 years' experience of pediatric neuroradiology, interpreted the rMRI, masked to the CT and clinical results. Results were analyzed for interobserver bias. RESULTS: A total of 14 patients were enrolled during the study period. Mean age was 5.9 years (range, 0.33-13). Of the 14 patients, 13 (93%) were able to complete the rMRI at 1.5 and 3T; 1 patient (1.67 years of age) was unable to complete the rMRI (no images obtained). Of the 26 unilateral orbital units assessed, 3 were positive for retroseptal orbital cellulitis by CT and were diagnosed correctly by rMRI. Interobserver agreement was 100% in detecting presence or absence of retroseptal cellulitis. CT and rMRI findings were concordant in 100% of cases in differentiating preseptal vs orbital cellulitis. Kappa statistics for three-category ratings by three raters for right eye/orbit was 0.921 and for left eye/orbit was 0.9288, suggesting almost perfect agreement. Concordance correlation coefficients were 0.938 for the right eye and 0.955 for the left eye. CONCLUSIONS: Noncontrast rMRI orbits showed findings concordant in all cases with contrast-enhanced CT for differentiating preseptal cellulitis from orbital cellulitis.