RÉSUMÉ
Juvenile Huntington's Disease (JHD) is a rare variant of the hereditary neurodegenerative disorder Huntington's disease (HD). Clinical symptoms in JHD are broad and non-specific, making the initial diagnosis difficult. In this report, we describe a young Hispanic male who gradually developed cognitive decline, dystonia, and seizures. His diagnosis was delayed despite multiple visits to his pediatrician, developmental specialist, and neurologist. A history of developmental regression and unusual imaging findings prompted genetic testing, which led to the diagnosis of JHD. Though changes in the striatum on MRI are hallmarks of JHD, family and developmental history often provide the most important diagnostic clues. Careful history-taking in patients with non-specific neurological exam findings, as in patients with JHD, can prevent diagnostic delays and allow for early interventions to improve quality of life.
RÉSUMÉ
Ultrasound is the imaging examination of choice for evaluation of suspected testicular pathology. The differential diagnosis of bilateral testicular lesions includes malignancy such as lymphoma and metastases, infection, and, uncommonly, adrenal rest tumors. We present a patient who developed bilateral testicular adrenal rest tumors after years of poorly controlled congenital adrenal hyperplasia, possibly due to chronically elevated adrenocorticotropic hormone stimulating the growth of testicular stem cells. Our patient also has a testicular ultrasound appearance that is hyperechogenic, rather than hypoechogenic as commonly described in the literature. Treatment adherence is important in the management of congenital adrenal hyperplasia, as testicular adrenal rest tumors may eventually lead to infertility.
RÉSUMÉ
PURPOSE: The purpose of this study was to evaluate the effect of spatial averaging on the multifocal electroretinography (mfERG) amplitude ring ratios used in screening for hydroxychloroquine (HCQ) toxicity. METHODS: This was a retrospective review of the records of patients screened for HCQ retinopathy at the USF Eye Institute (University of South Florida) during the period of 2015-2020. Patients were tested binocularly with Diagnosys mfERG system (Diagnosys LLC, Lowell, MA). Only the records of patients referred internally were used. The effects of the lowest level (level 1, or 8%) of spatial averaging on the P1 amplitude ring ratios used for screening of HCQ maculopathy: R1/R2, R2/R5, R5/R3 and R5/R4, were evaluated. RESULTS: The records of 40 patients (4 males, 36 females) aged 54.4 ± 14.1 years were selected for analysis. The use of spatial averaging had a significant effect on P1 amplitudes, and on the ring ratios and this effect was correlated with the magnitude of the amplitudes and the ratios. Spatial averaging diminished P1 amplitude significantly in ring 1 (p < 0.0001) and increased it slightly in ring 4 (p < 0.05), while it had no effect on the amplitude of the other three rings. Although as a group spatial averaging had a moderate effect on the R1/R2 ratio (~ -15%), on an individual basis the range was wide, from -36 to 43%. The effect on the other ring ratios was similar: The average group effect was ~ -5%, ~ -3.4% and ~ -4% for R2/R5, R5/R3 and R5/R4 ratios, but individual effects ranged from 0.18% to -27.3%, 0.9% to -14.2% and 0.9% to -26.2%, respectively. CONCLUSIONS: For all ring ratios used in this analysis, spatial averaging has a substantial effect on the ring ratio, which could affect the interpretation of the results. Therefore, use of spatial averaging should be avoided when analyzing mfERG results for HCQ screening.
