Brucellosis is a multisystem zoonotic disease. We report an unusual case of neurobrucellosis with seizures in an immunocompromised patient in Saudi Arabia who underwent renal transplantation. ...Magnetic resonance imaging of the brain showed diffuse white matter lesions. Serum and cerebrospinal fluid were positive for Brucella sp. Granuloma was detected in a brain biopsy specimen.
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DOBA, IZUM, KILJ, NUK, ODKLJ, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The dysfunction of microtubules (α/β‐tubulin polymers) underlies a wide range of nervous system genetic abnormalities. Defects in TBCD, a tubulin‐folding cofactor, cause diseases highlighted with ...early‐onset encephalopathy with or without neurodegeneration, intellectual disability, seizures, microcephaly and tetraparaperesis. Utilizing various molecular methods, we describe nine patients from four unrelated families with two novel exon 18 variants in TBCD exhibiting the typical neurological phenotype of the disease. Interestingly, all the investigated patients had previously unreported hematological findings in the form of neutropenia and mild degree of anemia and thrombocytopenia. In addition to delineating the neurological phenotype in several patients with TBCD variants, our study stresses on the new association of neutropenia, in particular, with the disease.
Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disease with characteristic neuro-endocrine manifestations. WSS encompasses heterogeneous phenotypes and disease course.
We aimed to ...characterize neurological involvement of the disease through subgrouping of core neurological manifestations.
A single-institution retrospective analysis of patients with clinically and genetically confirmed diagnosis of WSS.
A total of 38 individuals belonging to 17 families were identified to have WSS. The mean age at enrollment was 30.1 years (range 16–53 years). Neurological involvement was noted in 31 patients (81.5%). Dystonia was the most common neurological manifestation (67%), followed by intellectual disability (45%) and sensorineural hearing loss (30%). Based on the Neurological Impairment Scale (NIS), the disease was recognized to have two distinct patterns. A disabling, rapidly progressive pattern (NIS of 3–4; Type 1) was noted in eighteen patients (12 males, 6 females; 47.4%) with severe disability that occurs within a mean duration of 7.4 ± 3.6 years. Type 2 WSS was identified in twenty patients (8 males, 12 females; 52.6%), and showed either absent or mild neurological involvement with preserved activities of daily living (NIS of 0–1). The mean age of onset for neurological manifestations was earlier in type 1 (12.6 ± 4.5 years) compared to type 2 (18.1 ± 4.3 years). Type 1 WSS has a significantly higher rate of intellectual disability (p= <0.001).
In this pleiotropic syndrome, we identified two distinct phenotypes with variable prognosis. A high Interfamilial and intrafamilial phenotypic variability despite having a similar gene mutation suggests a possible role of genetic or environmental modifying factor.
•Woodhouse-Sakati syndrome (WSS) is a pleiotropic syndrome with variable neurological manifestations.•Two distinct phenotypes were recognized in our study.•Gene modifier factor has potential role to cause interfamilial and intrafamilial phenotypic variability.
•A high rate of unemployment was reported among individuals with seizure disorders.•Patients with seizure disorders due to trauma were at increased risk of unemployment.•Unemployment was linked to ...social factors and educational level.•Employers in Saudi Arabia generally accommodated patients in the workplace.
Observational studies suggest that persons with seizure disorders are socially disadvantaged compared to the general population. There are scarce reports in the literature on the prevalence of employment and occupational safety among patients with seizure disorders in Saudi Arabia. We aimed to describe the occupational statuses of patients with seizure disorders and determine factors associated with unemployment.
This was a cross-sectional study conducted at King Faisal Specialist Hospital and Research Center in Riyadh, Saudi Arabia. Five-hundred-and-forty patients with known seizure disorders or epilepsy who attended neurology and neurosurgery outpatient clinics between January and November 2018 completed a semi-structured questionnaire delivered by interview.
Forty-four percent of participants were unemployed (27% of males and 64% of females). Fifteen percent of currently or previously employed participants reported that they had formerly resigned from their job due to their seizure disorder, most commonly as a result of their own fears or concerns. Almost half of the participants reported that their employer made arrangements in the workplace for their seizure disorder, while 18% reported that they did not disclose their diagnosis. Gender, age, and highest educational level were associated with employment status and reason for unemployment. Patients with seizures secondary to trauma were less than half as likely to be employed compared to other participants (aOR = 0.45 95%CI 0.21–0.97, p = 0.042). Holding a driving license increased the odds of being employed (aOR = 2.68 95%CI 1.32–5.46, p = 0.007). Participants on 4 or more antiepileptic medications were more likely to report not being well enough to work.
Patients with seizure disorders are at increased risk of unemployment, even though many desire work. Unemployment is linked to social factors rather than disease-specific characteristics. Employers in Saudi Arabia generally accommodate patients in the workplace; however, individuals should further be empowered with information on safety in the workplace and their rights to employment.
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. We have ...identified a founder mutation consisting of a single base-pair deletion in C2orf37 in eight families of Saudi origin. Three other loss-of-function mutations were subsequently discovered in patients of different ethnicities. The gene encodes a nucleolar protein of unknown function, and the cellular phenotype observed in patient lymphoblasts implicates a role for the nucleolus in the pathogenesis of this disease. Our findings expand the list of human disorders linked to the nucleolus and further highlight the developmental and/or maintenance functions of this organelle.
We explored the manifestations of an autosomal-recessive multisystemic disorder in several Saudi families. Recognized causes of progressive extra- pyramidal disorder and white matter disease were ...excluded and the neurological, imaging, endocrine, and skin manifestations of this syndrome described. The onset of these symptoms in these patients began in early adolescence and progressed more rapidly in males. All affected patients had total or partial alopecia, clinical and chemical evidence of hypadism (low levels of estradiol and testosterone); females had clear evidence of hypadism (streak or absent ovaries), and some patients had diabetes mellitus and/or sensorineural deafness. The constant biochemical abnormality was the low IGF-1. The neurological manifestations included moderate to severe intellectual decline and abnormality of muscle tone and posture with choreo-athetoid and dystonic movements resulting in gait difficulty, dysarthria, difficulty swallowing, and scoliosis. The MRI of brain demonstrated white matter involving cerebellum, brain stem, and cerebral structures, as well as abnormal decreased signal intensity in the basal ganglia with involvement of the substantia nigra. We conclude that the association of hypadism, alopecia, and persistent low IGF-1 is a significant autosomal recessive syndrome; it is prevalent in Saudi Arabia. We also demonstrate that the progressive extra-pyramidal disorder, white matter disease, and abnormal signals of the basal ganglia are common features of this syndrome. Sensorineural deafness and diabetes mellitus were recognized features.
In this report, we describe a kindred consisting of five affected males presenting with many of the well-recognized features of Aarskog-Scott syndrome. The diagnosis, which was confirmed by the ...identification of a novel nonsense mutation of FGD1, was associated with the presence of a symmetric distal arthropathy with electromyographic signs of myopathy. These features should be considered in the evaluation of future patients.
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