The First Confirmed Pediatric Chronic Osteomyelitis due to Coxiella Burnetii in Oman.

We describe here the first confirmed case in Oman of chronic osteomyelitis due to Coxiella burnetii, in a previously healthy four-year-old Omani girl. After laboratory confirmation of C. burnetii infection using molecular and qualitative and quantitative serological assays, the case was successfully managed with a combination of oral ciprofloxacin and cotrimoxazole and thereafter followed up for a long period without remission.

Bacillus Calmette-Guérin vaccine-related complications in children in Oman.

BACKGROUND: Bacillus Calmette-Guérin (BCG) vaccine-related complications are frequently observed in children in Oman. There are a few regional studies on BCG complications, but none from Oman. OBJECTIVE: Evaluate the spectrum of BCG-vaccine related complications and immune status in Omani children. DESIGN: Retrospective cross-sectional study. SETTING: Referral tertiary hospital. METHODS: Children aged younger than 13 years old and with complications of BCG vaccination recorded from 2006-2018 were included in this study. Clinical characteristics, treatment, immune workup and outcome were reviewed from hospital records. MAIN OUTCOME MEASURES: Different BCG vaccine-related complications categorized by the site of involvement. SAMPLE SIZE: 226. RESULTS: Of the 226 children had BCG-vaccine related complications, 99% received BCG vaccine immediately after birth. The median age of presentation was 4 months. The most common complication was isolated BCG lymphadenitis (85%, n=192), followed by BCG-related osteomyelitis (10.2%, n=23) and disseminated BCG infection (4.9%, n=11). The median age of presentation of disseminated BCG was 5 months, with different organs involved. Out of 11 children with disseminated BCG infection, 72.7% (n=8) had primary immune deficiency (PID), including chronic granulomatous disease (CGD, n=5), severe combined immunodeficiency (SCID) (n=2); 1 patient had Mendelian susceptibility to mycobacterial disease (IFNGR2 deficiency); 2 patients with PID not yet identified and the 1 with a non-specific PID had blood or saliva samples sent for whole-exome sequencing. CONCLUSION: Because of the spectrum of BCG vaccine-related complications, including the most severe in children with PID, we suggest that delaying the BCG vaccine from birth to 6 months may prevent disseminated BCG diseases and their complications in children with PID because any PID will have been identified before 6 months. Further studies are needed to guide this recommendation. LIMITATIONS: Single center-based study that may not provide a full overview of all BCG vaccine-related complications in Oman. Unavailability of details of some microbiological results and an inability to determine the detailed management for all patients. CONFLICT OF INTEREST: None.

Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature.

BACKGROUND: Familial cases of autosomal recessive spastic ataxia of charlevoix-saguenay have not been reported in the Arabian Peninsula, although the consanguineous marriage rate is very high. We report the first family from the Arabian Peninsula harboring a novel frameshift mutation in the SACS gene. CASE SUMMARY: A 33-year-old man presented to our neurology clinic with balance problems and weakness of distal upper and lower limbs. He was previously clinically diagnosed with Friedreich's ataxia. However, the severity of polyneuropathy and the electrodiagnostic studies (EDX) findings are atypical features of Friedreich's ataxia, and the deterioration was attributed to diabetic neuropathy. Close examination of other family members identified cerebellar ataxia, lower-limb pyramidal signs, peripheral neuropathy, and magnetic resonance imaging findings characterized by pontine linear hypointensities. Genetic testing for Friedreich's ataxia did not yield a diagnosis. Whole exome sequencing identified a novel frameshift germline mutation in the SACS gene termed c.5824_5827delTACT using the transcript NM_014363.5, which is predicted to cause premature termination of the sacsin protein at amino acid position 1942 (p.Tyr1942Metfs*9) and disrupts the sacsin SRR3 and domains downstream from it. The mutation segregated with the disease in the family. CONCLUSION: Our data add to the spectrum of mutations in the SACS gene and argues for a need to implement suitably integrated clinical and diagnostic services, including next generation sequencing technology, to better classify ataxia in this area of the world.

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Here we report biallelic mutations in the sorbitol dehydrogenase gene (SORD) as the most frequent recessive form of hereditary neuropathy. We identified 45 individuals from 38 families across multiple ancestries carrying the nonsense c.757delG (p.Ala253GlnfsTer27) variant in SORD, in either a homozygous or compound heterozygous state. SORD is an enzyme that converts sorbitol into fructose in the two-step polyol pathway previously implicated in diabetic neuropathy. In patient-derived fibroblasts, we found a complete loss of SORD protein and increased intracellular sorbitol. Furthermore, the serum fasting sorbitol levels in patients were dramatically increased. In Drosophila, loss of SORD orthologs caused synaptic degeneration and progressive motor impairment. Reducing the polyol influx by treatment with aldose reductase inhibitors normalized intracellular sorbitol levels in patient-derived fibroblasts and in Drosophila, and also dramatically ameliorated motor and eye phenotypes. Together, these findings establish a novel and potentially treatable cause of neuropathy and may contribute to a better understanding of the pathophysiology of diabetes.

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.

INTRODUCTION: GNE myopathy is a rare recessive myopathy caused by mutations in the GNE gene. It is mainly a distal myopathy with relative sparing of the quadriceps muscle. METHODS: Patients with distal myopathies from Kuwait were examined and tested for the Middle Eastern GNE gene founder mutation, p.M743T. Patients were further studied for disease-associated features. RESULTS: GNE myopathy was confirmed in 14 of the 37 patients (37.8%) screened. All cases were caused by the p.M743T mutation. Age of onset and time from disease onset to loss of ambulation were variable. Both wasted and hypertrophied calf muscles were noted. Severely affected quadriceps were present in 1 patient, and ptosis, ophthalmoplegia, and tongue wasting in another. DISCUSSION: The scope of the p.M743T mutation now includes the Arabian Peninsula. Variations in age of onset, disease progression, and distribution in patients harboring the same mutation suggest the role of other genetic- and environment-modifying factors. Muscle Nerve 58: 700-707, 2018.

Isolated severe median mononeuropathy caused by a jellyfish sting.

Neuropathies caused by jellyfish stings are extremely rare and poorly studied. A 20-year-old female patient was stung on the volar aspect of the right forearm by an unidentified species of jellyfish. Local cutaneous reaction was followed within few days by severe median mononeuropathy, involving the motor and sensory branches to the hand and forearm but sparing the palmar branch. The patient had neuropathic pain relieved by pregabaline. Electrodiagnostic studies confirmed a demyelinating lesion. Ultrasound and magnetic resonance imaging of the median nerve revealed uniform swelling with mild uptake of contrast along the forearm. Within 2 months, strength improved significantly, pain subsided, and numbness partially resolved. Literature review and discussion of the possible mechanisms and implications of this rare effect of marine animal envenomation is presented. Jellyfish sting may cause focal mononeuropathies most probably because of the local effects of the toxins.

Clinically definite ALS presenting weeks after mild electric injury: causality or coincidence?

Motor neuron syndromes including typical ALS develop very rarely after electrotrauma, with possible causality discussed but not confirmed. We report on a 44-year-old male who developed clinically definite ALS by the revised El Escorial criteria with onset weeks after mild electric injury. He presented with asymmetric upper limb amyotrophy and weakness beginning around the entry point of the current. Over 1 year he developed generalized wasting, weakness and fasciculations, including the bulbar and thoracic muscles, with prominent spasticity and pyramidal tract signs. Electrodiagnostic studies confirmed widespread denervation, very unstable neurogenic motor units in the bulbar, cervical, thoracic and lumbosacral segments with normal motor velocities and normal sensory parameters. This is a well-documented case of fast-progressive ALS that seems related to electric injury.

Iatrogenic femoral neuropathy: two cases and literature update.

Iatrogenic femoral neuropathy is an uncommon surgical or obstetric complication that may be underreported. It results from compression, stretch, ischemia, or direct trauma of the nerve during hip arthroplasty, self-retaining retractor use in pelvicoabdominal surgery, lithotomy positioning for anesthesia or labor, and other more rare causes. Decreasing incidence of this complication after abdominal and gynecologic surgery but increase in its absolute numbers after hip arthroplasty has emerged over the last decade. We describe two illustrative cases related respectively to lithotomy positioning and self-retaining retractor use. The variability in clinical presentation of iatrogenic femoral nerve lesions, some new insights in their diverse pathophysiology, and in the diagnostic and treatment options are discussed with an update from the literature.