Multimodal Evoked Potential Profiles in Woodhouse–Sakati Syndrome

Abstract

Supplemental Digital Content is Available in the Text.

Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse‐Sakati syndrome.

“…One of the reasons for this could be that he is young and may develop diabetes later with progression of the disorder, as 96% of WSS patients with diabetes have been reported to develop it in their late 20s 3 . The MRI of the patient showed mineral deposition satisfying the criteria of the disease to be part of NBIA 24 and the periventricular T2 hyperintensities suggestive of white matter changes along with hormonal dysfunctions, is the unique attribute of WSS differentiating it from other NBIA subtypes 10 . The patient showed delayed secondary sexual characteristics and the reproductive hormonal assay was consistent with hypogonadotropic hypogonadism.…”

“…3 The MRI of the patient showed mineral deposition satisfying the criteria of the disease to be part of NBIA 24 and the periventricular T2 hyperintensities suggestive of white matter changes along with hormonal dysfunctions, is the unique attribute of WSS differentiating it from other NBIA subtypes. 10 The patient showed delayed secondary sexual Mutations in DCAF17 have been reported as the genetic cause for WSS. 1 DCAF17 encodes for a 550 amino acid long protein (58 kDa) localized on the nucleolus.…”

“…8 The characteristic MRI of the brain observed in WSS patients includes small pituitary gland, frontoparietal and periventricular white matter lesions, bilateral hypointensity in globus pallidus on T2, abnormal iron accumulation predominantly in globus pallidus and less reported in substantia nigra. 9,10 Electrocardiographic (ECG) abnormalities have also been reported in some patients. 2,7,11,12 Thus, WSS is considered as a multisystemic disorder.…”

“…The extrapyramidal symptoms have been reported to be progressive, and patients require assistance to ambulate in the fourth decade of their life 8 . The characteristic MRI of the brain observed in WSS patients includes small pituitary gland, frontoparietal and periventricular white matter lesions, bilateral hypointensity in globus pallidus on T2, abnormal iron accumulation predominantly in globus pallidus and less reported in substantia nigra 9,10 . Electrocardiographic (ECG) abnormalities have also been reported in some patients 2,7,11,12 .…”

Comparison of the efficacy and tolerability of different repetitive transcranial magnetic stimulation modalities for post-stroke dysphagia: a systematic review and Bayesian network meta-analysis protocol

“…The pathogenesis of PSD is quite complex, which may be related to damage to the swallowing cortical centre, descending cortical fibres, bulbar swallowing centre and extrapyramidal system 17–20. At present, the clinical treatment methods for PSD are limited.…”