Woodhouse-sakati syndrome with no reportable MRI findings: a case report.

BACKGROUND: Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive condition caused by biallelic pathogenic variants in the DCAF17 gene, with fewer than 200 cases reported in the literature. Symptoms first emerge in middle-late adolescence with a spectrum of hypogonadal and progressive neurological features. CASE PRESENTATION: We present a case of WSS with no reportable T2-weighted, apparent diffusion coefficient mapping and susceptibility weighted MRI findings. This differs from cases reported in the current literature. Our patient developed abnormal movements in both legs, clumsiness of the hands, dysarthria, and swallowing difficulties. Moreover, she presented with alopecia manifesting as frontal and temporal balding, severe dystonia with painful dystonic spasms primarily in the left upper limb, as well as primary amenorrhea. She was not independently ambulatory on presentation, requiring wheelchair assistance. Genetic testing, the crucial test for a definitive diagnosis, was undertaken in Qatar and confirmed WSS. Treatment provided includes botulinum toxin injections and deep brain stimulation, providing better dystonia control, with progress in walking and strength exercises, and overall remarkable improvement. Intensive neurorehabilitation regimes were also deployed from admission, including physiotherapy, occupational therapy and speech and language therapy. CONCLUSION: This case adds to the current literature on WSS manifestations, with all previously reported cases having positive MRI findings, unlike our case.

Electrophysiological and etiological evaluation of 119 cases of wrist drop: A single center study.

OBJECTIVE: To explore the pattern of electrodiagnostic findings in cases of wrist drop and compare gender, involved side of the body, and military versus civilian population for the aetiology of wrist drop. METHODS: This cross-sectional study was conducted at Armed Forces Institute of Rehabilitation Medicine Rawalpindi, Pakistan, from August 2013 to December 2014, and comprised wrist drop cases regardless of age or gender. Evaluation was done using XLTEK Neuromax 1004 EMG unit in line with the recommended protocol for electrodiagnostic evaluation of a suspected radial nerve injury(RNI). SPSS 20 was used for data analysis. RESULTS: Of the 119 patients, 97(81.5%) were males, 66(55.5%) were in the 16-30 years' age group, and 96(80.7%) were military personnel. RNI at the mid-arm level was the commonest cause in 88(73.9%) cases. The frequent inciting event was trauma with fracture of the humerus in 39(32.8%) cases. Eighty-four (70.6%) lesions were axonal. Ninety-four (79%) individuals had no associated injury to other nerves. Injuries due to trauma were more frequent in males (p<0.001), on the right side (p=0.046), and in the military population (p=0.05). CONCLUSIONS: RNI at the mid arm level was the commonest cause of wrist drop in our sample and fracture of the humerus was the main inciting event..

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.

The major pathway by which the brain obtains essential omega-3 fatty acids from the circulation is through a sodium-dependent lysophosphatidylcholine (LPC) transporter (MFSD2A), expressed in the endothelium of the blood-brain barrier. Here we show that a homozygous mutation affecting a highly conserved MFSD2A residue (p.Ser339Leu) is associated with a progressive microcephaly syndrome characterized by intellectual disability, spasticity and absent speech. We show that the p.Ser339Leu alteration does not affect protein or cell surface expression but rather significantly reduces, although not completely abolishes, transporter activity. Notably, affected individuals displayed significantly increased plasma concentrations of LPCs containing mono- and polyunsaturated fatty acyl chains, indicative of reduced brain uptake, confirming the specificity of MFSD2A for LPCs having mono- and polyunsaturated fatty acyl chains. Together, these findings indicate an essential role for LPCs in human brain development and function and provide the first description of disease associated with aberrant brain LPC transport in humans.