BACKGROUND AND PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, and progressive extrapyramidal signs. The disease is caused by biallelic pathogenic variants in the DCAF17 gene. The purpose of this study was to describe the spectrum of brain MR imaging abnormalities in Woodhouse-Sakati syndrome. MATERIALS AND METHODS: We reviewed brain MR images of 26 patients with a clinical and genetic diagnosis of Woodhouse-Sakati syndrome (12 males, 14 females; age range, 16-45 years; mean age, 26.6 years). Follow-up studies were conducted for 6 patients. RESULTS: All patients had abnormal MR imaging findings. The most common abnormalities were a small pituitary gland (76.9%), pronounced basal ganglia iron deposition (73%), and white matter lesions in 69.2%. White matter lesions showed frontoparietal and periventricular predominance. All white matter lesions spared subcortical U-fibers and were nonenhanced. Prominent perivascular spaces (15.3%) and restricted diffusion in the splenium of the corpus callosum (7.6%) were less frequent findings. Follow-up studies showed expansion of white matter lesions with iron deposition further involving the red nucleus and substantia nigra. Older age was associated with a more severe degree of white matter lesions (P Ͻ .001). CONCLUSIONS: Small pituitary gland, accentuated iron deposition in the globus pallidus, and nonenhancing frontoparietal/periventricular white matter lesions were the most noted abnormalities seen in our cohort. The pattern and extent of these findings were observed to correlate with older age, reflecting a possible progressive myelin destruction and/or axonal loss. The presence of pituitary hypoplasia and white matter lesions can further distinguish Woodhouse-Sakati syndrome from other neurodegenerative diseases with brain iron accumulation subtypes. ABBREVIATIONS: NBIA ϭ neurodegenerative diseases with brain iron accumulation; WSS ϭ Woodhouse-Sakati syndrome; SNHL ϭ sensorineural hearing loss
Flat foot in children is a common deformation, which appears during the first years of life. It requires a rigorous evaluation to rule out congenital or neurological abnormality. It is characterized by a decrease of the plantar concavity indeed collapse of the foot, often associated with other morphostatic deformations. The aim of this study is to find a correlation between the essential flat foot in children and lower limb disorders torsional. It is a cross-sectional descriptive study, recruiting 110 children (220 feet) aged between 3 and 6 years old. Each child was given an assessment of the morphology of the foot (Contact Index II…) and lower limb rotational profile (intoeing and femoral antétorsion and tibal torsion). Among 110 children, 21 (19.1%) have bilateral flat feet and 7 (6.4%) have unilateral flat feet, associated with an average value of Contact Index II equal to 0.921; the minimum value is 0.880 and the maximum value is 1.17. All children with flat feet have excessive femoral antétorsion; 45 (92%) are associated with a hip intoeing and 38 (80%) present an insufficient external tibial torsion. The analysis of multiple regression shows a significantly elevated correlation among the flat foot and excessive internal rotation of the hip (F = 70.36, r = 0.77, P < 0.001), excessive femoral antetorsion (F = 54.78, r = 0.73, P < 0.001) and insufficient external tibial torsion (F = 7.79, r = 0.37, P < 0.001).
Dear Editor, Angiolymphoid hyperplasia with eosinophilia (ALHE) is an uncommon, chronic, benign, idiopathic vascular proliferation tumor that manifests as multiple erythematous or violaceous papules or nodules on the
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