Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis.

Introduction: CACNA1S related congenital myopathy is an emerging recently described entity. In this report we describe 2 sisters with mutations in the CACNA1S gene and the novel phenotype of congenital myopathy and infantile onset episodic weakness. Clinical description: Both sisters had neonatal onset hypotonia, muscle weakness, and delayed walking. Episodic weakness started in infancy and continued thereafter, provoked mostly by cold exposure. Muscle imaging revealed fat replacement of gluteus maximus muscles. Next generation sequencing found the missense p.Cys944Tyr variant and the novel splicing variant c.3526-2A>G in CACNA1S. Minigene assay revealed the splicing variant caused skipping of exon 28 from the transcript, potentially affecting protein folding and/or voltage dependent activation. Conclusion: This novel phenotype supports the notion that there are age related differences in the clinical expression of CACNA1S gene mutations. This expands our understanding of mutations located in regions of the CACNA1S outside the highly conserved S4 segment, where most mutations thus far have been identified.

Redundant Nerve Roots of the Cauda Equina, MRI Findings and Postoperative Clinical Outcome: Emphasizing an Overlooked Entity.

STUDY DESIGN: Retrospective study. OBJECTIVE: To describe the MRI findings of RNRs in patients with low back pain, and observe the imaging findings and the clinical outcome post decompression surgery. METHODS: The lumbar spine MRI of 202 patients (122 females) with proven RNRs were retrospectively reviewed. The morphology and the location of the RNRs in relation to the level of stenosis were described. The level(s), grade and cause of lumbar canal stenosis were recorded. The persistence of symptoms and the imaging findings on follow up post decompression surgery were recorded. The imaging findings were correlated among each other and with patients' demographics. RESULTS: Two distinctive morphological appearance of the RNRs were noted: loop (56.4%), and serpentine-shaped. In the majority of the cases the RNRs were located above the level of stenosis (79.7%). Eighteen patients underwent decompression surgery, only 4 patients remained symptomatic post decompression surgery. The RNRs changed in shape and location after decompression surgery. Age was a strong predictor value in the location of the RNRs. There was no correlation between the shape and location of the RNRs, or with the gender of the patients. CONCLUSION: RNRs is not an uncommon finding on lumbar spine MRI with lumbar canal stenosis. Its importance remains a controversy. A common language between the radiologists and the clinicians is mandatory to aid in the management planning.

Bilateral Congenital Diaphragm Agenesis in a Neonate with Hydrocephalus: Case Report.

Congenital diaphragmatic hernia (CDH) is one of the most common anomalies in neonates. Diaphragmatic agenesis (DA) is rare and is considered at the extreme spectrum of CDH, it is associated with a higher rate of multiple anomalies. A male neonate with antenatal diagnosis of CDH and hydrocephalus was born at estimated gestational age of 36 + 4 weeks by emergency Caesarean section due to fetal distress. Chest x-ray showed a common pleuroperitoneal cavity with the liver, spleen, and stomach seen in the thoracic cavity suggesting the diagnosis of bilateral absence of the diaphragm, the neonate died after an hour and a half. DA associated with hydrocephalus has never been previously reported in the literature.

Chest x-ray findings and temporal lung changes in patients with COVID-19 pneumonia.

BACKGROUND: Chest CT scan and chest x-rays show characteristic radiographic findings in patients with COVID-19 pneumonia. Chest x-ray can be used in diagnosis and follow up in patients with COVID-19 pneumonia. The study aims at describing the chest x-ray findings and temporal radiographic changes in COVID-19 patients. METHODS: From March 15 to April 20, 2020 patients with positive reverse transcription polymerase chain reaction (RT-PCR) for COVID-19 were retrospectively studied. Patients' demographics, clinical characteristics, and chest x-ray findings were reported. Radiographic findings were correlated with the course of the illness and patients' symptoms. RESULTS: A total of 88 patients (50 (56.8%) females and 38 (43.2%) males) were admitted to the hospital with confirmed COVID-19. Their age ranged from 3 to 80 years (35.2 ± 18.2 years). 48/88 (45%) were symptomatic, only 13/88 (45.5%) showed abnormal chest x-ray findings. A total of 190 chest x-rays were obtained for the 88 patients with a total of 59/190 (31%) abnormal chest x-rays. The most common finding on chest x-rays was peripheral ground glass opacities (GGO) affecting the lower lobes. In the course of illness, the GGO progressed into consolidations peaking around 6-11 days (GGO 70%, consolidations 30%). The consolidations regressed into GGO towards the later phase of the illness at 12-17 days (GGO 80%, consolidations 10%). There was increase in the frequency of normal chest x-rays from 9% at days 6-11 up to 33% after 18 days indicating a healing phase. The majority (12/13, 92.3%) of patients with abnormal chest x-rays were symptomatic (P = 0.005). CONCLUSION: Almost half of patients with COVID-19 have abnormal chest x-ray findings with peripheral GGO affecting the lower lobes being the most common finding. Chest x-ray can be used in diagnosis and follow up in patients with COVID-19 pneumonia.

Biochemical and Ultrasound Characteristics of Subclinical Hypothyroid Patients in North of Jordan: Who Was Treated?

BACKGROUND: Early diagnosis and management of subclinical hypothyroidism (SCH) are important to avoid the risk of developing overt hypothyroidism. This study aimed to evaluate patients with subclinical hypothyroidism (SCH), in regard to their biochemical characteristics, and ultrasound features, and factors associated with initiating treatment for this condition. METHODS: This was a retrospective study, which reviewed the data of patients who visited the Endocrinology clinic of a tertiary hospital in Jordan, King Abdullah University Hospital. Patients who visited the clinic with SCH over 1 year, Jan 2016-Dec 2016, were included. The charts were reviewed again 2 years later to check patients who started L-thyroxine for the different indications of treatment of SCH. Thyroid function tests (free T3, free T4, and TSH) and thyroid peroxidase antibodies (TPO-Ab) were found to be measured for all cases (n=287), among whom, thyroid ultrasound was done for 43 patients. RESULTS: Most patients were females (88.1%). Mean age was 42.36 (±15.36 years). Positive TPO-Ab status was associated with higher TSH (p=0.056), lower free T4 levels (p= 0.012), and more patients treated with L- thyroxine for SCH in 2 years (p=0.001). On ultrasound, hypoechogenicity was more predominant among TPO-Ab positive patients than TPO-Ab negative patients (78% vs 30%). CONCLUSION: SCH patients with positive TPO-Abs were more likely to be treated for this condition based on the various indications, and more likely to have had hypoechogenicity on ultrasound. Hence, thyroid ultrasonography and TPO-Ab status should be implemented early in evaluating and treating patients with SCH.

Myxoma of the renal pelvis masquerading pelviureteric stenosis: conservative limited resection with renal preservation: case presentation and literature review.

BACKGROUND: Myxoma is a relatively rare mesenchymal tumor seen mainly in the heart and skin. Renal myxomas in particular are exceptionally rare where only 17 cases were previously reported in the English Language literature. Only 2 of the 17 reported cases were located in the renal sinus/pelvis. CASE PRESENTATION: This is a case of an 18-year-old male patient who complained of right, colicky flank pain associated with abdominal pain and discomfort. Imaging findings revealed right kidney hydronephrosis with a provisional diagnosis of pelviureteric junction (PUJ) stenosis. On computed tomography, there was a very faint thin walled mass abutting the calyces, camouflaged within the dilated renal pelvis. During surgery, a polypoid mass was found at the pelviureteric junction, causing the obstruction. Histological examination showed a hypocellular, paucivascular myxoid neoplasm, with few spindle cells displaying serpentine nuclei and inconspicuous nucleoli. The tumor cells expressed immunoreactivity for vimentin, but not for S100, CD34, actin, or desmin. This will qualify as the third case of renal pelvis myxoma. CONCLUSION: Myxomas in the renal pelvis/sinus are extremely rare and can present with hydronephrosis and subtle radiological findings mimicking a PUJ stenosis. Being aware of this entity can save the patient unnecessary nephrectomy with possible preservation of the kidney.

Retro-psoas muscle vermiform appendix: an unusual location.

The vermiform appendix is considered the most mobile organ in the human body. Due to its various positions in the abdomen and pelvis, it may result in confusion in diagnosis to the surgeons when it becomes inflamed. Atypical locations of the appendix have been reported previously in the literature. We report an unusual location of the vermiform appendix in the right retro-psoas muscle space that was incidentally discovered in a male patient who was involved in a road traffic accident.

Chondroma of the Falx Cerebri with Central Cystic Degeneration and Hemorrhage: A Case Report.

BACKGROUND Intracranial chondroma is a rare benign tumor that more commonly arises from the skull base. Chondroma arising from the falx cerebri is very rare, with only 19 cases previously reported in the literature. The imaging characteristics of intracranial chondroma and meningioma can be similar. Surgical excision and histology are required for the diagnosis. This report is of a case of intracranial chondroma that includes the imaging findings. The methods of diagnosis, management, and prognosis are discussed. CASE REPORT A 44-year-old man presented with episodes of severe headache. Magnetic resonance imaging (MRI) showed a well-defined, extra-axial, parafalcine lesion in the right frontal region. An interhemispheric craniotomy was performed. A right frontal solid and calcified tumor attached to the falx cerebri was identified and removed. Histology confirmed the diagnosis of a benign chondroma containing areas of hemorrhage and cystic degeneration. CONCLUSIONS Chondroma arising in the falx cerebri is a rare intracranial tumor that may mimic meningiomas on imaging. Awareness of the varied imaging characteristics of these benign tumors is essential for planning the most appropriate treatment.

Ingested sharp foreign body presented as chronic esophageal stricture and inflammatory mediastinal mass for 113 weeks: Case report.

INTRODUCTION: Impacted foreign bodies in the esophagus have the potential to cause serious complications. Ingested sharp objects carry the risk of acute complications as: perforation, acute mediastinitis, and acute bleeding. Rarely, such foreign bodies might migrate through the esophageal wall and present as chronic esophageal foreign body. CASE PRESENTATION: We present a case of a 36-month-old girl presented with solid food dysphagia and regurgitation proved to be secondary to esophageal stricture after 26 months of accidental ingestion of aluminum can tab which has migrated through the wall of the upper esophagus into the mediastinum. After two trials of endoscopic treatment; she underwent thoracotomy and partial esophagectomy. Multiple trials of dilation and Mitomycin C injection were followed because of re-stricture. CONCLUSION: Foreign body impaction or secondary stricture needs to be considered in the differential diagnosis of children presenting with new onset dysphagia and regurgitation. Metallic Foreign body might be even radiolucent. Practitioners should keep a high index of suspicion for a retained esophageal FB in the child with gastrointestinal or respiratory symptoms that do not respond to standard therapy.

Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families.

BACKGROUND: Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder due to mutations in ROBO3 gene. Patients have characteristic clinical and imaging findings. We report six patients from two families with this disorder with two novel mutations. MATERIALS AND METHODS: One patient from a non-consanguineous family and five patients from extended consanguineous families were clinically and radiologically examined. Blood samples from the patients and their parents were obtained and all the coding exons and flanking intronic sequences of the ROBO3 gene were amplified and subjected to bidirectional DNA sequencing. RESULTS: All six patients had the characteristic clinical and radiological findings of HGPPS. Genetic testing showed two novel mutations including frame-shift and nonsense. CONCLUSION: Two novel mutations in the ROBO3 gene were identified in two Jordanian families with six affected individuals. To our knowledge, this is the first molecular study of HGPPS in Jordan.

Sonographic assessment of liver and spleen size based on age, height, and weight: evaluation of Jordanian children.

BACKGROUND: The growth of the liver and spleen is a dynamic process in children, and is related to the somatic parameters of the child, and may be affected by many diseases in children. It is of paramount importance to have standard reference values for the size of these organs for diagnostic and prognostic purposes. The aim of our study was to provide practical and reliable normal reference values for the size of the liver and spleen in children and to correlate the values with age, height, and weight. METHODS: Three hundred fifteen children (142 boys and 173 girls) were prospectively examined by ultrasound due to problems unrelated to the liver or spleen. All of the subjects had normal sonographic appearance of their organs. The ages of the subjects ranged from newborns to 14 years. The liver and spleen size was correlated with age, height, and weight. The spleen size was compared with previous internationally published data. RESULTS: There was no statistical significant difference in the size of the liver and spleen between boys and girls (P>0.05). There was steady increase in the size of the liver and spleen, with good correlation with age and all the somatic parameters. The spleen size was in close proximity to those previously reported in the literature. CONCLUSIONS: Standard spleen and liver size reference values were obtained by ultrasound for Jordanian children and were in concordance with international values.

Clinical relevance of 18F-FDG-negative osteoblastic metastatic bone lesions noted on PET/CT in breast cancer patients.

PURPOSE: Our study aims to assess the clinical relevance of fluorine-18 fluorodeoxyglucose (F-FDG) negative osteoblastic metastatic bone lesions noted on PET/computed tomography (CT) in breast cancer patients. PATIENTS AND METHODS: The medical records of breast cancer patients were reviewed retrospectively from January 2012 until April 2015. We included the patients who had metastatic bone disease evaluated by F-FDG-PET/CT. Group 1 included patients with newly diagnosed metastatic bone disease at the time of imaging and group 2 included patients with a history of treated metastatic bone disease at the time of imaging. Functional and structural bone abnormality was monitored on F-FDG-PET/CT scans. RESULTS: Fifty-three patients, median age 47.1 years (range 27-80 years), were included. Group 1 included 35 patients. Of those, 88% had predominantly F-FDG-avid osteolytic and mixed lesions (destructive pattern). Complete response was noted in 65% of the patients after treatment, evidenced by disappearance of bony focal activity with partial or total ossification of most osteolytic lesions converting into mixed and 'secondary' osteoblastic lesions. In addition, more ossified lesions were noted in some patients whose lesions were left untreated for long time (aged lesions). The remaining 12% of group 1 patients had pure 'primary' osteoblastic lesions (nondestructive pattern), which started small and expanded with time and tend to be F-FDG-negative. Group 2 included 18 patients who had predominantly mixed and 'secondary' osteoblastic lesions. CONCLUSION: We described two types of osteoblastic metastatic bone lesions in breast cancer patients: 'primary' and 'secondary'. 'Secondary' lesions (88%) are totally ossified (healed) osteolytic lesions and are almost always F-FDG-negative on PET/CT. These lesions are of no clinical importance. Healing is potentially seen after treatment or if the lesions are left untreated for a long time (aged lesions). 'Primary' lesions (12%) are seen without previous bone destruction and tend to be F-FDG-negative, although they contain tumor cells. Hence, sequential CT is more helpful than sequential FDG-PET in following 'primary' lesions.

Alveolar Soft Part Sarcoma of the Extremity: Case Report and Literature Review.

Alveolar soft part sarcoma (ASPS), a rare soft tissue sarcoma in children and adolescents, carries a poor prognosis. ASPS is an aggressive tumor of controversial histogenesis that, unlike other soft tissue sarcomas, tends to metastasize to the brain. A 9-year-old boy presented to our outpatient clinic in April 2009 with a chief complaint of a large painless mass in the left thigh whose size had increased significantly over the past 10 months. After staging the tumor, we performed open biopsy; the diagnosis was ASPS and he underwent wide local excision. In the course of 4-year follow-up by clinical and imaging studies, there was no evidence of early tumor recurrence or metastasis. Complete surgical resection is the treatment of choice in patients with ASPS.

Radiofrequency ablation of osteoid osteoma using tissue impedance as a parameter of osteonecrosis.

INTRODUCTION: The aim of this study is to assess the safety and the efficacy of radiofrequency ablation (RFA) of osteoid osteoma with Soloist monopolar electrode using tissue impedance, rather than temperature, as an indicator of osteonecrosis. METHODS: The medical records and imaging studies of 30 patients (males 18, females 12) who underwent RFA of osteoid osteoma at our institution were reviewed. The mean age of the patients was 15.3 years (range 5-34 years) and the mean duration of follow up was 26.9 months (range 3-52 months). The lesions were located in the femur (n=6, 53%), tibia (n = 8, 27%), hand (n = 3, 10%), foot (n = 2, 6%) and humerus (n = 1, 3%). The procedure was performed with general anaesthesia under CT guidance. The nidus was accessed with 11-gauge bone biopsy needle and then the stylet was removed and replaced by monopolar 16.5G radiofrequency probe with a 9-mm active tip through the coaxial axis. Power delivery via the radiofrequency generator was started at 2 W and increased gradually until the end point of 450-500 Ω reached and 'Roll-Off' achieved indicating coagulation necrosis of the target lesion. RESULTS: The procedure was technically successful in all patients. The mean procedure time was 72 min and the mean RFA time was 12.7 min. The clinical success rate was 93%. In one patient, the procedure was abandoned due to immature Roll-Off despite all measures. In one patient (3%), recurrence occurred 39 months after the procedure. No major complications were encountered. Two minor skin burns occurred that were resolved with conservative measures. CONCLUSION: RFA of osteoid osteoma using Soloist monopolar electrode is a safe and effective treatment. Tissue impedance could be used as an alternative to temperature to indicate osteonecrosis of osteoid osteoma during RFA.