A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency

2019 ◽  
Vol 32 (7) ◽  
pp. 781-783
Author(s):  
Sevil Dorum ◽  
Ipek Güney Varal ◽  
Orhan Gorukmez ◽  
Pelin Dogan ◽  
Arzu Ekici
Keyword(s):  
Novel Mutation ◽  
Clinical Findings ◽  
Carnitine Palmitoyltransferase ◽  
Periventricular White Matter ◽  
Mri Findings ◽  
Case Presentation ◽  
Valve Insufficiency ◽  
Cranial Mri ◽  
Magnetic Resonance Imaging Mri

Abstract Background The clinical phenotypes of carnitine palmitoyltransferase type-2 deficiency (CPT2D) are classified into lethal neonatal, severe infantile and muscle forms. The rarest form is the lethal neonatal form. Case presentation The patient was hypotonic and bradycardic at admission. Blood urea nitrogen and creatinine were high. He had polycystic kidneys, patent foramen ovale and aortic valve insufficiency. Cranial magnetic resonance imaging (MRI) revealed increased signal intensities in the periventricular white matter. Tandem mass spectrometry (MS) analysis was compatible with CPT2D. We found a homozygous in-frame deletion in the CPT2 gene using next-generation sequencing. Conclusions We identified a novel mutation leading to the lethal form of CPT2D with polycystic kidney, cardiac malformation and cranial MRI findings. Our findings expand the spectrum of causative mutations and clinical findings in CPT2D.

Neuroimaging of Children With Takayasu Arteritis

2021 ◽  
pp. 088307382199128
Author(s):  
Hafize Emine Sönmez ◽  
Ferhat Demir ◽  
Semanur Özdel ◽  
Şerife Gül Karadağ ◽  
Esra Bağlan ◽  
...  
Keyword(s):  
Takayasu Arteritis ◽  
Internal Carotid ◽  
Laboratory Data ◽  
Left Middle Cerebral Artery ◽  
Mri Findings ◽  
Cranial Mri ◽  
Magnetic Resonance Imaging Mri ◽  
The Right ◽  
And Diffusion ◽  
Left Middle

Objective: Takayasu arteritis is a rare granulomatous chronic vasculitis that affects the aorta and its main branches. Neurologic manifestations can accompany the disease; however, there is no study on neuroimaging in children with Takayasu arteritis. Therefore, we aimed to evaluate cranial magnetic resonance imaging (MRI) in pediatric Takayasu arteritis patients. Materials and Methods: Demographic, clinical, and laboratory data were obtained retrospectively. Results: The study included 15 pediatric Takayasu arteritis patients. All patients presented with constitutional symptoms. Additionally, 6 patients suffered from headache, 2 had syncope, 1 had loss of consciousness, and 1 had convulsion. All patients underwent cranial and diffusion MRI a median 12 months after diagnosis. Cranial MRI findings were normal in 12 patients, whereas 3 patients had abnormal findings, as follows: stenosis in the M1 and M2 segments of the left middle cerebral artery (n = 1); diffuse thinning of the right internal carotid, middle cerebral, and right vertebral and basilar artery (n = 1); as a sequela, areas of focal gliosis in both the lateral ventricular and posterior periventricular regions (n = 1). Among these 3 patients, 1 had no neurologic complaints. Conclusion: Abnormal MRI findings can be observed in pediatric Takayasu arteritis patients, even those that are asymptomatic; therefore, clinicians should carefully evaluate neurologic involvement in all pediatric Takayasu arteritis patients.

scholarly journals Breast involvement of hematological malignancies: imaging and clinical findings

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Gamze Durhan ◽  
Figen Demirkazık
Keyword(s):  
Hematological Malignancies ◽  
Clinical Findings ◽  
Accurate Diagnosis ◽  
Radiological Findings ◽  
Breast Masses ◽  
Appropriate Treatment ◽  
Magnetic Resonance Imaging Mri ◽  
Type 3 ◽  
And Diffusion

Abstract Background Breast involvement of hematological malignancies is a very rare entity. Accurate diagnosis is essential for appropriate treatment. The aim of this study was to clarify the clinical and radiological findings of hematological malignancy breast involvement and to describe possible pitfalls in diagnosis. Results The images of 20 patients with breast involvement of hematological malignancies were retrospectively evaluated on ultrasonography, mammography, and magnetic resonance imaging (MRI) and the findings were reported. Bilaterality was seen only in cases with secondary involvement, and there was no marked difference between primary and secondary breast involvement of hematological malignancies. All patients underwent ultrasonography examination. According to ultrasonography, breast masses were most frequently irregular in shape (11/20, 55%) with non-circumscribed margins (11/20, 55%). Posterior acoustic enhancement was noted in 14 cases (70%). Posterior shadowing was not observed in any of the patients. Mammography was available in 10 patients. Microcalcification was not observed in any patient on mammography. MRI was available in four patients. Hyperintensity in T2-weighted images, type 2 or type 3 dynamic curve, and diffusion restriction were observed in all cases. Conclusions Hematological malignancies may mimic both benign breast lesions and breast carcinoma. Familiarity with the radiological features of hematological malignancies can help accurate diagnosis.

Discrepancies in the interpretation of clinical symptoms and signs in the diagnosis of multiple sclerosis. A proposal for standardization

2005 ◽  
Vol 11 (2) ◽  
pp. 227-231 ◽  
Author(s):  
Bernard MJ Uitdehaag ◽  
Ludwig Kappos ◽  
Lars Bauer ◽  
Mark S Freedman ◽  
David Miller ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Demyelinating Disease ◽  
Clinical Symptoms ◽  
Clinical Findings ◽  
Large Trial ◽  
Mri Findings ◽  
Mcdonald Criteria ◽  
Magnetic Resonance Imaging Mri ◽  
Eligibility Assessment

The new McDonald diagnostic criteria for multiple sclerosis (MS) incorporate detailed criteria for the interpretation and classification of magnetic resonance imaging (MRI) findings, but, in contrast, provide no instructions for the interpretation of clinical findings. Because MS according to the McDonald criteria is one of the primary endpoints in a large trial enrolling patients after the first manifestation suggestive for a demyelinating disease (BENEFIT study), it was decided to organize a centralized eligibility assessment for this trial. During this eligibility assessment it was observed that there were marked inconsistencies in the decisions of participating neurologists with respect to the classification of clinical symptoms as being caused by one or more lesions provoking discussions in about one in every five patients. This paper describes these inconsistencies and their sources, and recommends a systematic approach that attempts to reduce the variability in interpreting clinical findings.

scholarly journals Novel Surgical Technique for Bone Marrow Lesion — Case Report

2016 ◽  
Vol 1 (s2) ◽  
pp. 27-30 ◽  
Author(s):  
Pal Fodor ◽  
Radu Prejbeanu ◽  
Vlad Predescu ◽  
Bogdan Codorean ◽  
Radu Fleaca ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Knee Injury ◽  
Femoral Condyle ◽  
International Knee Documentation Committee ◽  
Minimal Risk ◽  
Mri Findings ◽  
Case Presentation ◽  
Stress Injuries ◽  
Magnetic Resonance Imaging Mri ◽  
Viable Approach

Abstract Introduction: Bone marrow lesions (BMLs) are commonly described as magnetic resonance imaging (MRI) findings associated with stress injuries or trauma. The presence of BMLs closely correlates with pain and rapid joint deterioration. Case presentation: A 51-year-old healthy man presented to our clinic with severe knee pain due to BMLs. After 3 months of conservative treatment, arthroscopy and subchondroplasty (SCP) of the medial femoral condyle was performed. The IKDC (International Knee Documentation Committee) score improved from 39.9 to 66.7 at 6 months, and to 87.4 at 1 year after surgery. The KOOS (Knee Injury and Osteoarthritis Outcome) score improved from 38.5 to 77.7 at 6 months, and to 92.6 at 1 year after surgery. The Tegner Lysholm score improved from 23 to 80 at 6 months, and to 95 at 1 year after surgery. Conclusion: SCP may provide a viable approach to reduce pain associated with BML, with minimal risk of significant complications.

scholarly journals Cutaneous Metastasis in a Previously Known Case of Ovarian Dysgerminoma: A Case Report

2021 ◽  
Vol 14 (10) ◽  
Author(s):  
Farokh Seilanian Toosi ◽  
Malihe Hasanzadeh ◽  
Mona Maftouh ◽  
Ahmadreza Tavassoli
Keyword(s):  
Local Recurrence ◽  
Cutaneous Metastasis ◽  
Mri Findings ◽  
Surgical Incision ◽  
Case Presentation ◽  
Pathologic Evaluation ◽  
History Of ◽  
Ovarian Dysgerminoma ◽  
Magnetic Resonance Imaging Mri ◽  
One Year

Introduction: Cutaneous metastasis is an uncommon manifestation that mostly occurs in patients with previous gastrointestinal or gynecological malignancies. Local recurrence usually can be seen in surgical incisions. Dysgerminomas are rare ovarian tumors that usually have local invasions, but metastases are infrequent. Here, we described a case of dysgerminoma and cutaneous metastasis in the surgical incision. Case Presentation: The patient was a 39-year-old woman previously known as ovarian dysgerminoma, who had undergone surgery one year ago. Ultrasound examination a year after surgery showed a 35 × 33 millimeters hypoechoic solid tumor in the left ovary and another 3 masses with similar echo pattern and vascularity were found in the surgical incision. Magnetic resonance imaging (MRI) findings were compatible with cutaneous metastasis of pervious dysgerminoma. Pathologic evaluation and Immunohistochemistry (IHC) confirmed dysgerminoma's skin metastasis. She received chemotherapy due to the recurrence of malignancy. Conclusions: Local recurrence and metastases (even in the skin) should be kept in mind and the clinician must examine the surgical site skin in patients with a history of malignancy.

Falcıform lıgament torsıon caused by omental hernıa through the foramen of morgagnı

2021 ◽  
Vol 17 ◽  
Author(s):  
Ahmet Gürkan Erdemir ◽  
Yasin Yaraşır ◽  
Mehmet Ruhi Onur
Keyword(s):  
Abdominal Pain ◽  
Acute Abdominal Pain ◽  
Epigastric Pain ◽  
Falciform Ligament ◽  
Mri Findings ◽  
Case Presentation ◽  
Magnetic Resonance Imaging Mri ◽  
The Right ◽  
Omental Fat ◽  
Fat Herniation

Introduction: Torsion of the falciform ligament, one of the rarest causes of acute abdominal pain, often presents with pain in the right upper quadrant and epigastrium. Case Presentation: In this case, we present the computed tomography (CT) and magnetic resonance imaging (MRI) findings of torsion of the falciform ligament that occured in the presence of omental fat herniation through the foramen of Morgagni in an 88-year-old female patient who presented to the emergency department with acute epigastric pain. Conclusion: Torsion of the falciform ligament may develop secondary to omental hernia in the setting of Morgagni hernia and should be taken in consideration as one of the rarest causes of acute abdominal pain, even in elderly patients.

scholarly journals Radiological Imaging Findings of a Case with Vertebral Osteoid Osteoma Leading to Brachial Neuralgia

2013 ◽  
Vol 3 ◽  
pp. 54 ◽  
Author(s):  
Erkan Gokce ◽  
Erdoğan Ayan ◽  
Fatih Çelikyay ◽  
Berat Acu
Keyword(s):  
Osteoid Osteoma ◽  
Clinical Presentation ◽  
Imaging Techniques ◽  
Transverse Process ◽  
Clinical Findings ◽  
Mri Findings ◽  
X Ray ◽  
Magnetic Resonance Imaging Mri ◽  
Brachial Neuralgia ◽  
Ct And Mri

Osteoid osteoma is a small, benign osteoblastic tumor consisting of a highly vascularized nidus of connective tissue surrounded by sclerotic bone. Three-quarters of osteoid osteomas are located in the long bones, and only 7-12% in the vertebral column. The classical clinical presentation of spinal osteoid osteoma is that of painful scoliosis. Other clinical features include nerve root irritation and night pain. Osteoid osteoma has characteristic computed tomography (CT) findings. Because magnetic resonance imaging (MRI) findings of the osteoid osteomas causing intense perinidal edema can be confusing, these patients should be evaluated with clinical findings and other imaging techniques. In this study, we present X-ray, CT, and MRI findings of a case with osteoid osteoma located in thoracic 1 vertebra left lamina and transverse process junction leading to brachial neuralgia symptoms.

scholarly journals Peripheral and central smell regions in COVID-19 positive patients: an MRI evaluation

2021 ◽  
pp. 028418512110340
Author(s):  
Veysel Burulday ◽  
Merve Sefa Sayar ◽  
Nuray Bayar Muluk
Keyword(s):  
Early Stage ◽  
Antiviral Treatment ◽  
Mri Findings ◽  
Reactive Protein ◽  
Thoracic Computed Tomography ◽  
Mri Scans ◽  
Cranial Mri ◽  
The Central Nervous System ◽  
Magnetic Resonance Imaging Mri ◽  
Mri Evaluation

Background Coronaviruses may lead to invasion of the central nervous system. Purpose To investigate the effects of COVID-19 infection on smell using cranial magnetic resonance imaging (MRI). Material and Methods Cranial MRI scans of 23 patients with COVID-19 (patient group [PG]) and 23 healthy controls (HCs) were evaluated. Peripheric (olfactory bulb [OB] volume and olfactory sulcus [OS] depth) and central (insular gyrus and corpus amygdala areas) smell regions were measured. Results Smell loss was present in nine patients (39.1%) in the PG. The means of the disease duration and antiviral treatment were 3.00 ± 2.35 and 5.65 ± 1.72 days, respectively. OB volumes of the PG were significantly lower than those of the HCs bilaterally. However, no significant differences were observed between the OS depth, insular gyrus, and corpus amygdala areas of both groups. The left corpus amygdala areas were both increased with the increased disease ( P = 0.035, r = 0.442) and treatment durations ( P = 0.037, r = 0.438). In the PG, longer treatment duration, increase in C-reactive protein (CRP), lymphocyte count decrease, and positive thoracic computed tomography (CT) involvement were related to OS depth decrease. Right corpus amygdala areas increased in patients with COVID-19 with increased D-dimer values, and thoracic CT involvement was detected. Conclusion COVID-19 disease affects the peripheric smell region of OBs and does not affect the central smell regions of the insular gyrus and corpus amygdala areas. The importance of our study is to detect MRI findings in patients with COVID-19 leading to odor disorders. These findings may help in diagnosing the disease at an early stage.

scholarly journals First branchial cleft fistula: a case report and literature review

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Razan Bawazir ◽  
Abdullah Bawazir ◽  
Osama Bawazir
Keyword(s):  
Case Report ◽  
Facial Nerve ◽  
Multidisciplinary Approach ◽  
Treatment Process ◽  
Nerve Monitoring ◽  
Case Presentation ◽  
Rare Malformation ◽  
Branchial Cleft ◽  
Magnetic Resonance Imaging Mri

Abstract Background First branchial cleft fistula is a rare malformation of the neck and head. The purpose of this report is to showcase a method of treating first brachial cleft fistula while preserving the facial nerve. Case presentation This case report presents an 8-year-old female with a type 2 first branchial cleft fistula. The treatment process follows multidisciplinary approach with the aid of health professionals from different departments, pre-op magnetic resonance imaging (MRI) scanning to map the fistula, and the use of nerve monitoring device (NIM). Conclusion The procedure was successfully done while preserving the facial nerve.

scholarly journals Hypointense Transcerebral Veins at T2∗-Weighted MRI: A Marker of Hemorrhagic Transformation Risk in Patients Treated with Intravenous Tissue Plasminogen Activator

2003 ◽  
Vol 23 (11) ◽  
pp. 1362-1370 ◽  
Author(s):  
Marc Hermier ◽  
Norbert Nighoghossian ◽  
Laurent Derex ◽  
Patrice Adeleine ◽  
Marlène Wiart ◽  
...  
Keyword(s):  
Plasminogen Activator ◽  
Cerebral Blood Volume ◽  
Volume Ratio ◽  
Hemorrhagic Transformation ◽  
Tissue Type ◽  
Cerebral Veins ◽  
Mri Findings ◽  
Intravenous Tissue Plasminogen Activator ◽  
Magnetic Resonance Imaging Mri

Prediction of hemorrhagic transformation (HT) in patients treated by intravenous recombinant tissue-type plasminogen activator (rt-PA) is a challenging issue in acute stroke management. HT may be correlated with severe hypoperfusion. Signal changes may be observed at susceptibility-weighted magnetic resonance imaging (MRI) within large perfusion defects. A signal drop within cerebral veins at T2∗-weighted gradient-echo MRI may be expected in severe ischemia, and may indicate subsequent risk of HT. The authors prospectively searched for an abnormal visibility of transcerebral veins (AVV) within the ischemic area in patients with hemispheric ischemic stroke, before they were treated with intravenous rt-PA therapy. Any correlation between AVV and baseline clinical or MRI findings, or further HT, was noted. An AVV was present in 23 of 49 patients (obvious, n = 8; moderate, n = 15), and was supported by severe hemodynamic changes at baseline MRI. The AVV was correlated with the occurrence of parenchymal hematoma type 2 at computed tomography during the first week ( r = 0.44, P = 0.002). Five of six type 2 parenchymal hematomas occurred in association with obvious AVV. At multiple regression analysis, two baseline MRI factors had an independent predictive value for HT risk during the first week: the AVV and the cerebral blood volume ratio (Nagelkerke R2 = 0.48).

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