Carnitine Palmitoyltransferase II (CPT2) Deficiency: An Overlooked and Elusive Cause of Acute Kidney Injury.

Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inherited disorder affecting fatty acid metabolism. This enzymatic defect presents with a broad clinical spectrum, from severe neonatal forms that can be fatal, to milder myopathic variants characterized by myalgia and recurrent myoglobinuria in adolescence and adulthood. Herein, we report the case of a male patient who developed exertional rhabdomyolysis and acute kidney injury due to CPT2 deficiency. This case underscores the importance of considering genetic disorders in the differential diagnosis of patients presenting with recurrent exercise intolerance and metabolic crises. Early recognition and diagnosis enable prompt implementation of dietary and lifestyle modifications aimed at mitigating potential complications such as renal impairment. Moreover, timely diagnosis allows for genetic counseling of affected individuals and their families.

IgA Vasculitis Following COVID-19 Vaccination.

As new variants of SARS-CoV-2 continue to emerge worldwide, countries are striving to fully vaccinate their population in a bid to prevent severe disease, subsequent hospitalizations, and the associated strain on their healthcare systems and death. In this context, there is growing evidence of rare, potential side effects associated with COVID-19 vaccines. IgA vasculitis is a systemic, IgA-mediated vasculitis characterized by palpable purpura, arthralgia, abdominal pain, and renal involvement. It is the most common type of vasculitis in childhood, sporadically affecting the adult population. However, there have been multiple reports of IgA vasculitis following vaccination against COVID-19. Herein, we present the case of a 72-year-old patient with palpable purpura that developed two weeks after receiving the Pfizer BioNTech vaccine. Laboratory investigations revealed elevated serum creatinine (2.6 mg/dL), macroalbuminuria (8.6 g/24 h), and macroscopic hematuria. Histopathological examination confirmed necrotizing vasculitis, and a diagnosis of IgA vasculitis was established. Considering the clinical presentation, the laboratory and histopathological findings, and the time interval between the vaccination and the development of symptoms, we strongly believe that IgA vasculitis in this patient arose as a side effect of the Pfizer BioNTech vaccine.

Predictors of mortality in hemodialysis patients with COVID-19: A single-center experience.

INTRODUCTION: The COVID-19 pandemic has disproportionately affected patients with preexisting comorbidities, particularly dialysis patients. The aim of this study was to determine predictors of mortality in this population. METHODOLOGY: We conducted an observational, retrospective, cohort study collecting data from pre and post-vaccine from the electronic medical records of a single dialysis center at Hygeia International Hospital Tirana, Albania. RESULTS: Of 170 dialysis patients, 52 were diagnosed with COVID-19. The prevalence of COVID-19 infection in our study was 30.5%. The mean age was 61.5 ± 12.3 years and 65.4% were men. The mortality rate in our cohort was 19.2%. Mortality rates were higher in patients with diabetic nephropathy (p < 0.04) and peripheral vascular disease (p < 0.01). Elevated C- reactive protein (CRP) (p < 0.018), high red blood cell distribution width (RDW) (p < 0.03), and low lymphocyte and eosinophil counts, were found to be risk factors for severe COVID-19 disease. ROC analysis identified lymphopenia and eosinopenia as the strongest predictors of mortality. After the vaccine administration, the mortality rate in the vaccinated population was 8%, in contrast to the 66.7% mortality rate that was found in the unvaccinated group (p < 0.001). CONCLUSIONS: Our study revealed that risk factors for the development of severe COVID-19 infection were RDW, low lymphocyte and eosinophil counts, elevated levels of CRP. Lymphopenia and eosinopenia were determined as the most important predictors of mortality, in our cohort. Mortality was notably lower among vaccinated patients.

The importance of imaging in tuberous sclerosis complex (tsc) in children: Two cases.

Tuberous sclerosis complex (TSC) is an inherited, multisystemic, hamartomatous neurocutaneous disorder, with an autosomal dominant inheritance pattern. It affects multiple organs, however the most susceptible ones include the brain, skin, kidneys, lungs, the retina, and the heart. TSC is characterized by considerable clinical heterogeneity. The majority of patients present with a constellation of clinical signs and symptoms, most prominently central nervous system manifestations including epilepsy, cognitive impairment and autism spectrum disorders, cutaneous, cardiac, renal and ophthalmic manifestations. Epilepsy affects 70% - 90% of patients, representing the primary neurological feature and 1 of the foremost clinical findings of the disorder. Cardiac rhabdomyomas are the most frequent cardiac manifestations, appearing as isolated or multiple lesions. Herein, we present 2 patients diagnosed with tuberous sclerosis. A 3-month-old male patient with cardiac rhabdomyomas and hypopigmented macules and a 19-month-old male patient with partial epilepsy and mild psychomotor retardation. As brain lesions represent some of the most prevalent clinical features and early onset seizures are associated with more severe cognitive, function delay, through this article we hope to emphasize the potential role MRI can play in the diagnostic workup of TSC, to ensure a more timely diagnosis, thus modifying the natural course of the disorder and its prognosis.

Acute spinal cord ischemia in a patient with Situs Inversus Totalis.

Situs inversus totalis (SIT) is a rare developmental abnormality where the organs throughout both the thoracic cavity and abdomen are a mirror image of normal anatomy, often occurring concomitantly with other genetic and developmental defects. Acute spinal cord ischemia is diagnosed based on the clinical presentation along with consistent imaging, but since clinical manifestations of acute spinal cord ischemia- rapidly progressive motor, sensory, and autonomic dysfunction-overlap with a wide spectrum of myelopathies, a thorough diagnostic workup with consideration of inflammatory, infectious, compressive and nutritional etiologies is required to establish the diagnosis. In this report, we present the case of an 18-year-old female patient who was admitted with acute onset of severe lower back pain, progressive weakness, paralysis, loss of sensation in both lower limbs and voiding difficulties. The diagnosis of acute spinal cord ischemia in a patient with situs inversus totalis was made. Our case highlights the spectrum of the pathological entities that can be associated with situs inversus totalis. Due to the lack of the classic signs and symptoms of sinus inversus, a diagnosis of situs inversus totalis with concomitant pathological conditions may require a more in-depth evaluation by complex imaging modalities to ensure a comprehensive assessment of the condition and its associated complications.

The importance of CT Urography in early diagnosis of anatomical variations in urogenital tract: case presentation.

Anatomic variations in the urogenital tract have generally been diagnosed through intravenous urography as a modality of choice. In recent years, computerized tomography (CT) urogram has replaced the traditional intravenous imaging of the genitourinary tract. Hematuria, tumoral mass, obstructive uropathy, and congenital collecting system abnormalities are indications for CT imaging. In this report, we present a young woman with intermittent right flank pain and recent urinary tract infection. Her history was also positive for spontaneous abortion. She was referred to the Radiology Clinic for a CT urography. Our aim, in this case report, is to highlight the role of CT urography in the early diagnosis of anatomical variations of the urogenital system and appropriate prevention of clinical progression.

Borderline ovarian tumor and MRI evaluation of a case report.

Borderline ovarian tumors or atypical proliferative tumors are abnormal cells that arise from ovarian epithelium in contrast to ovarian cancers which form from stroma, the supportive tissue of ovaries. They are not invasive and tend to grow slowly. Many patients with BOTs are asymptomatic, while others have nonspecific symptoms like abdominal pain or abdominal distension. The absence of symptoms makes Borderline Ovarian Tumor hard to diagnose until it is in an advanced size or stage. Very rarely, the borderline tumor cells change into cancer cells. It usually affects patients at the reproductive age, for whom preserving the childbearing potential plays a very important role. In this report, we present the case of 58-year-old female patient who is presented to the neurosurgeon's office with complaints of lower abdominal pain. Incidentally while investigating the intervertebral discs through a lumbar MRI, an abnormal finding was present in the coronal view, where a mass was noted on the lower right adnexal region of the abdomen. The patient was referred to a gynecologist for further investigations, This case report emphasizes the high sensitivity and specificity of contrast MRI in the diagnosis of various pelvic pathologies in female patients.

Giant cholesterol granuloma of petrous apex.

Cholesterol granulomas are chronic inflammatory lesions located primarily in the apex of the petrous part of the temporal bone. They are benign, tumor-like lesions, consisting of a cystic cavity filled with a chocolate-brown fluid and present as hyperintense masses on T1 and T2 sequences on MRI. The most common causes of cholesterol granulomas are chronic middle ear infections and traumas, explaining their prevalence in young to middle aged patients. Due to their progressively expanding nature, clinical presentation include vertigo, diplopia, tinnitus, hearing loss and seizures. Treatment of cholesterol granulomas consists of two different approaches: watch and wait or radical surgery to remove the granulomatous tissue. We present the case of a 38-year-old male patient who was admitted to the Neurology Clinic with complaints of loss of consciousness, headache, pain on the left side of the face and tinnitus in the left ear. These symptoms had been present for some time and gradually worsened in intensity and frequency. Initially after an EEG was performed, the patient showed signs of focal epilepsy and began treatment accordingly. Subsequently, a CT and an MRI of the head and neck were performed, which showed a large, well demarcated expansile mass within the left petrous apex, which was hyperintense on T1 and T2. Based on his clinical presentation and radiologic findings, a diagnosis of cholesterol granuloma was established. Through this case report we hope to emphasize the role imaging modalities play in the diagnosis and appropriate management of cholesterol granulomas.

Corrigendum to 'Anterior interosseous nerve lesion and distal myoclonus revealing a Parsonage Turner Syndrome associated with Hashimoto's thyroiditis' [Radiology Case Reports 16 (2021) 3176-3181].

[This corrects the article DOI: 10.1016/j.radcr.2021.07.067.].

Corrigendum to 'Ectopic thyroid tissue in the anterior mediastinum along with a normally located gland' (Radiology case reports 16 [2021] 3191-3195).

[This corrects the article DOI: 10.1016/j.radcr.2021.07.064.].

The importance of computed tomography (CT) scans in the early diagnosis of Gorham-Stout Disease - A case report.

Gorham Stout disease (GSD) or vanishing bone disease is an infrequent entity in clinical practice characterized by gross and progressive bone loss along with excessive growth of vascular and lymphatic tissue. Very little is known about the pathogenesis of GSD, which makes the diagnosis challenging. Due to the rarity of the disease, no treatment guidelines have been created yet. We report a case of GSD in a 53-year-old male patient. He presented with bone pain and initial imaging showed widespread osteolytic lesions in the cervical and mid thoracic spine, ribs, sternum, clavicles, scapula and humerus. Two percutaneous bone biopsies were performed, followed by an open spine biopsy of the L2 spinous processes for histological examination. Unfortunately, no diagnosis was established. Although, he was treated symptomatically, he kept enduring pain and presented again after seven months. His laboratory values were out of the normal range which prompted thorough investigations. New imaging and bone biopsy revealed multiple osteolytic lesions and vascular lesions with cavernous morphology. GSD was diagnosed after ruling out a neoplastic process and confirming the cavernous morphology with immunohistochemical stain. He was treated symptomatically with immunomodulators, bisphosphonates and supplements. Regular follow-up with a specialist was recommended. We hope this case will raise awareness of GSD in common clinical practice and shed some insight on its clinical presentation and the role CT and other imaging modalities play in the diagnosis of GSD.

Artery of Percheron infarction: A case report and literature review.

The artery of Percheron (AOP) represents a rare anatomic variant of the posterior circulation. It is a solitary trunk that provides bilateral arterial supply to the rostral midbrain and paramedian thalamus. AOP infarction presentation varies, most often presents with altered mental status, memory impairment, and supranuclear vertical gaze palsy. Diagnosis of the AOP infarct is most often missed in the initial CT scan. A majority of these diagnoses are made outside the window of thrombolytic treatment for ischemic stroke. We report a case of a 67-year old male with a history of well-managed diabetes mellitus type 2 and hypertension, presented in the ER sudden onset severe drowsiness. On a physical exam, we found left pupil dilation and left eye deviation. Initial CT scan showed no pathological changes. The diagnosis was made on the third day of hospitalization via an MRI. Our case highlights the unusual presentation and that an absence of evidence of AOP infarction in CT scan does not exclude its diagnosis. The artery of the Percheron infarct requires a comprehensive clinical and radiological examination.

Popliteal vein aneurysm in a teenager with knee swelling.

Primitive vein popliteal aneurysms are rare and potentially fatal vascular disorders. The most dangerous complications of popliteal vein aneurysms are thromboembolic events, mainly pulmonary embolisms, a life-threatening event that requires a timely diagnosis and prompt management. As a treatable cause of recurrent pulmonary embolisms, their actual incidence is believed to be underestimated. Herein, we present a case report of a popliteal vein aneurysm in a previously healthy16-year old male, presenting with a swelling behind his left knee that causes minimal discomfort while walking. When feasible, early surgical repair of both symptomatic and asymptomatic popliteal venous aneurysms is advised, since they are associated with an ill-defined possibility of pulmonary embolism and mortality, if left untreated.

A case report of Joubert syndrome with renal involvement and seizures in a neonate.

Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of "the molar tooth sign" on axial magnetic resonance imaging (MRI). Mutations in the implicated genes, affect proteins integral to cellular structures like the primary cilium, basal bodies and centromeres, categorizing Joubert syndrome as a ciliopathy. The most common clinical manifestations include moderate to severe hypotonia in early infancy with ataxia developing later in life, abnormal breathing patterns (tachypnea, apnea), atypical eye movements, development delay and intellectual disabilities. Differential diagnosis between different ciliopathies is challenging due to the overlapping clinical features. French neurologist Marie Joubert was the first to describe the clinical findings in 1969 and later the disorder was named after her. In this report, we present the case of a newborn female patient who was admitted to the neonatal intensive care unit 12 hours after birth, presenting with dyspnea, cyanosis, signs of respiratory distress and seizures. During the course of her hospitalization elevated levels of urea and creatinine were detected and after an abdominal ultrasound and CT evaluation bilateral renal hyperplasia and polycystic kidney disease were discovered. An MRI of the head and neck revealed the presence of inferior vermis agenesis, with a medial crack in cerebellum, a partial dysgenesis of corpus callosum, an underlying and thicker cerebral peduncle, as well as the molar tooth sign suggesting a diagnosis of Joubert syndrome. The diagnosis was ultimately confirmed through molecular genetic testing. Through this case report, we hope to draw attention to this rare and elusive group of disorders and emphasize the value of a prompt diagnosis and a proactive and multidisciplinary approach in the management of these patients.

Importance of MRI in the diagnosis of a rare intracranial mucocele associated with frontal paranasal osteoma: Case report and literature review.

Osteomas and cystic mucoceles are well-known benign tumors, affecting the paranasal sinuses. However, the concomitant presence of both lesions represents a rare occurrence, with only a handful of reported cases. We report a case of a frontal sinus osteoma associated with an intracranial mucocele, in a 61-year-old male patient, with a 3-month history of intermittent headaches and subsequent generalized seizures. Post-contrast MRI showed a frontal heterogeneously enhanced lesion with an adjacent non-enhanced cyst. After surgical excision, histopathological examination established the diagnosis of osteoma with mucoid cyst. Mucoceles increase in size progressively and gradually. They are mostly asymptomatic, nevertheless, once they extend intracranially, complications like infections, seizures, or other neurological disturbances, may frequently occur, indicating the necessity for surgical treatment. Imaging modalities, in particular a head MRI is paramount while contemplating the differential diagnosis of a solid and cystic intracranial lesions, owing to its high sensitivity and specificity. The aim of this case report is to underscore the importance of considering intracranial mucoceles in the differential diagnosis of cystic lesions in the anterior cranial fossa when associated with a solid, possibly obstructing mass.

Unusual case presentation of fungal ball infection causing diabetes insipidus and seizure disorder.

Sphenoid sinus fungal ball (FB) is a noninvasive fungal infection affecting predominantly immunocompetent middle-aged female patients. Common clinical manifestations include headaches, postnasal drip, and nasal discharge. In this case report, we present a 56-year-old female with a 10-year history of occasional dizziness, vertigo, nystagmus, feeling disoriented and feeling her eyes moving rapidly. Complaints of restlessness, insomnia, anxiety, stress and anger were also present. Due to the nonspecific nature of her symptoms, a diagnosis of sphenoid sinus FB was overlooked. Definitive diagnosis was established after performing a nasal endoscopy and subsequent histopathological examination of the collected sinus tissues. The histopathology report disclosed Aspergillosis FB with chronic sinusitis. Due to the decade long delay in diagnosis and proper treatment, septal wall collapse occurred, with the patient developing diabetes insipidus with hyponatremia that led to a massive seizure and fall, resulting in multiple disc herniations. Surgical removal of the FA elicited a complete resolution of her symptoms and a full recovery. Although fungal rhinosinusitis is a well recognized spectrum of diseases by ENT specialists, through this case report we hope to draw attention to this particular pathological entity within fungal infections, while simultaneously underlining the broad spectrum of symptoms with which it may manifest and the importance of including FA infections when considering the differential diagnosis in patients with long-standing chronic sinusitis.

Multifocal Langerhans cell histiocytosis in a child.

Langerhans Cell Histiocytosis (LCH) is a rare disorder sometimes called the disorder of the "monocyte-macrophage system". This condition is characterized by the proliferation of abnormal Langerhans cells within different tissues. Skin rash is the typical early feature, but bony involvement is the second most common presentation. The most common complications are musculoskeletal disabilities, hearing problems, skin scarring, neuropsychiatric defects and most importantly, progression to secondary malignancies like leukemia. Early recognition and treatment can reduce morbidity and mortality. Herein, we report a case of a 10-year-old male presenting with a tender, palpable mass in the lower limb. On initial imaging, a lesion involving the diaphysis of the fibula was observed, raising concerns of Ewing sarcoma. Biopsy was planned along with whole-body MRI, revealing multifocal single system Langerhans cell histiocytosis. Given the rarity of fibular involvement in LCH, distinguishing between LCH and common malignancies within this age-group can be challenging. Through this case report, we hope to emphasize the importance of considering LCH in the differential diagnosis to ensure a timely diagnosis, fitting treatment and improvement in prognosis of the condition.

Silent Moyamoya disease - A rare case report.

Moyamoya is a rare cerebrovascular disorder marked by chronic, gradual blockage of the circle of Willis arteries, leading to characteristic collateral vessels, specifically cerebral angiography. The disease can develop in children and adults, although there are different clinical characteristics. Moyamoya disease occurs mainly in Japanese people but has been reported in all races of varying age distributions and clinical features. As a reason, Moyamoya disease has been under-recognized as a cause of hemorrhagic and ischemic strokes in Western nations. There is no proven solution at this time, and there is debate over current care methods. The authors identify a case of a 40-year-old male with a small subcutaneous nevus-like mass in his left orbit who was diagnosed with Moyamoya disease.

Trigeminal neuralgia caused by Dandy-walker malformation: A case report and systematic review of the literature.

Trigeminal neuralgia is a pain condition that affects the face along the distribution of the trigeminal nerve and can be recurrent and chronic. Dandy-Walker syndrome is a complex congenital brain anomaly that occurs during embryonic development of the cerebellum and the fourth ventricle. It is characterized by inferior cerebellar vermis hypoplasia and incomplete formation of the fourth ventricle. Dandy-Walker Syndrome is associated with comorbid genetic conditions. It can include congenital heart defects, eye abnormalities, intellectual disability, congenital tumors, and other brain defects such as agenesis of the corpus callosum. However, associations of trigeminal neuralgia and Dandy Walker syndrome have been an infrequent entity. Herein, we report a case of a 23-year-old female patient that presented with complaints of severe left orofacial pain over two years. MRI evaluation was consistent with Dandy-Walker malformation findings that we suspect caused the compression in the trigeminal root entry zone that ultimately gave rise to the patient's symptoms.