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3.
Radiol Case Rep ; 17(4): 1251-1255, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35198087

RESUMEN

Lumbar radiculopathy is a clinical condition defined by symptoms of pain, weakness, numbness, or tingling due to lumbar nerve root compression in levels L1-L4. Typically, it is characterized by a narrowing near the nerve root possibly caused by stenosis, bone osteophytes, disc herniation, and similar conditions. Reports of lumbar radiculopathy brought about by the presence of a radicular schwannoma are exceedingly rare. In this paper, we discuss the case of a 67-year-old female patient, presenting with complaints of low back pain, numbness, and antalgic gait for the past eight months. Her physical examination revealed motor and sensor neurological deficits affecting the left lower limb. The electromyoneurography evaluation showed neurogenic atrophy of the left radicular area, while the MRI revealed the presence of a giant, radicular schwannoma at L4-L5 level. This case report aims to underscore the clinical course and management of lumbar radiculopathy caused by a rare L4-L5 radicular schwannoma. Our patient had no significant risk factors or previous spinal pathology.

4.
Radiol Case Rep ; 17(3): 558-562, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34987684

RESUMEN

Primary hyperaldosteronism (PA) is one of the most common causes of secondary hypertension. PA may be associated with a decline in renal function. About 20% of cases with resistant HTN eventually cause PA, so all these patients should be evaluated for PA. Herein, we present a case with drug-resistant hypertension and chronic kidney disease (CKD), the cause of which was PA. Despite his low-salt diet modifications and treatment with several classes of antihypertensive medication, he had poorly controlled blood pressure (BP). Measurements of aldosterone and renin raised the concern of PA. Imaging confirmed bilateral adrenal hyperplasia. Due to the persistently high BP, despite the modification of the antihypertensive treatment, the patient underwent unilateral adrenalectomy, as the only feasible possibility of lowering aldosterone levels. After surgery, the patient had an improvement in both BP values and renal function. PA is difficult to diagnose in patients with CKD and Arterial Hypertension because hypertension is often associated with CKD, but PA accounts for a significant percentage of drug-resistant hypertension, so these patients should be screened for secondary arterial hypertension.

5.
Radiol Case Rep ; 17(3): 650-655, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35003454

RESUMEN

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.

6.
Radiol Case Rep ; 17(2): 399-403, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34925673

RESUMEN

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.

7.
Radiol Case Rep ; 17(3): 492-495, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34950281

RESUMEN

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.

8.
Radiol Case Rep ; 16(12): 3772-3775, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34630815

RESUMEN

Anophthalmia is a rare genetic disorder. It is defined as the absence of one or both eyes in a patient. It can be unilateral or bilateral. Based on the absence of anatomical structures, it is divided into primary, secondary, and degenerative anophthalmia. It occurs in an infant with a diabetic mother or any exposure to teratogens. Most of the patients have a positive family history of anophthalmia or related genetic disorder. Its diagnosis is crucial as there is a similar condition called micro ophthalmia. Sometimes it is difficult to differentiate between severe microphthalmia and anophthalmia. We present a case of a 5-day-old infant diagnosed with bilateral anophthalmia. In the majority of the cases of bilateral anophthalmia the patients usually have a positive family history of antenatal exposure to teratogenic substances. But in our case, no family history or antenatal teratogenic exposure was noted.

9.
Radiol Case Rep ; 16(12): 3915-3919, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34703518

RESUMEN

Takayasu arteritis is a rare type of chronic, granulomatous vasculitis, characterized by inflammation of blood vessels of large caliber, such as the aorta, and its branches. Clinical presentation varies, depending on the severity of symptoms. Onset may be gradual, however at times, presentation may be acute, and life threatening. Herein, we present the case of a 29-year-old female, 3 months post-op, following a right carotid artery stenting procedure. The patient presented with nonspecific symptoms of malaise, arthralgia, and blurry vision. Clinical presentation and imaging findings were consistent with Takayasu's Arteritis.

10.
Radiol Case Rep ; 16(11): 3176-3181, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34484514

RESUMEN

Parsonage-Turner Syndrome (PTS), also known as brachial neuritis or neuralgic amyotrophy, is a rare disorder affecting 2 to 3 individuals per 100,000 each year. Abrupt onset shoulder pain, followed by motor weakness, paresthesia and hypoesthesia, is usually reported, lasting several months with variable recovery. The etiology of the disease may be idiopathic or triggered by an underlying autoimmune disease in genetically susceptible individuals. Our report addresses a unique case of Parsonage-Turner Syndrome in a patient suffering from concurrent Hashimoto Thyroiditis. A previously healthy A 22 year-old female was referred to the Department of Neurology after complaints of sudden-onset motor weakness in her left upper limb. On physical examination, the patient could not make an "Ok sign" with her thumb and distal phalanx or form a complete fist, revealing weakness within the anterior interosseous branch of the median nerve. Further testing with electromyography demonstrated muscular atrophy within the arm's anterior compartment, forearm, and triceps brachii of the posterior compartment. Additional imaging and physical examination were unremarkable, confirming our diagnosis of PTS. Furthermore, lab reports revealed elevated levels of anti-thyroglobulin and anti-thyroid peroxidase antibodies and our patient was concurrently diagnosed with Hashimoto's thyroiditis. This case aims to highlight the rare co-occurrence of Hashimoto's thyroiditis with Parsonage-Turner Syndrome in an otherwise healthy patient. A 2014 study published by Nugent et al. had also shed light on brachial neuritis in a patient suffering from autoimmune connective tissue disease, and through this case study, we hope to add to the growing literature regarding the correlation between PTS and autoimmune diseases. Symptoms of PTS can easily be misdiagnosed given its similarity to other peripheral neuropathies, and careful assessment and thorough understanding of the disease is required to successfully distinguish it from other neurological pathologies.

11.
Radiol Case Rep ; 16(11): 3191-3195, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34484517

RESUMEN

Ectopic thyroid tissue is a rare developmental abnormality arising from an aberration in the normal migration of the thyroid gland, from the floor of the primitive foregut to its final position. It is usually asymptomatic, often being diagnosed as an incidental finding. However, it can present with symptoms of compression such as chest pain, cough, stridor, dysphagia, dyspnea and superior vena cava syndrome. Herein, we present the case of a 42-year-old male patient, presenting with dyspnea, chest pain and fatigue. Laboratory tests showed low serum levels of thyroid-stimulating hormone (TSH) and a thoracic computed tomography revealed a heterogeneous mass in the anterior mediastinum. The patient underwent a full surgical resection. The postoperative histopathological examination of the mass demonstrated the presence of benign ectopic thyroid tissue with no evidence of malignancy. This case report emphasizes the importance of taking Ectopic thyroid tissue into account when considering the differential diagnosis of a mediastinal mass, as other common diagnoses including lymphomas, dermoid cysts and thymic tumors, require an entirely distinct treatment approach.

12.
Radiol Case Rep ; 16(10): 3084-3089, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34429808

RESUMEN

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.

13.
Radiol Case Rep ; 16(10): 3094-3098, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34429810

RESUMEN

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.

14.
Radiol Case Rep ; 16(9): 2726-2730, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34336078

RESUMEN

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.

15.
Med Arch ; 75(2): 154-157, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34219877

RESUMEN

BACKGROUND: Ectopic thyroid papillary carcinoma presenting as bilateral neck lymph nodes metastasis is very rare. Ectopic thyroid tissue may appear in any location along the trajectory of the thyroglossal duct from the foramen cecum to the mediastinum. It is subject to malignant transformation and is classically accompanied by a similar transformation of the native thyroid gland. Similar to that of the native thyroid gland, the most common malignancy found is Papillary thyroid carcinoma. Unusual cases in which ectopic thyroid carcinoma presents with normal native tissue support an alternative hypothesis that ectopic thyroid tissue may develop malignancies independently from the native thyroid gland. OBJECTIVE: We present an extremely rare case of a 30-year-old woman previously diagnosed with Hashimoto's thyroiditis, presenting with a palpable mass in the lateral neck suspicious for malignancy. RESULTS: After several examinations and surgical removal of the mass, histopathologic evaluation of the continuous sections of the thyroid, demonstrated metastatic disease from papillary carcinoma of the thyroid. Total thyroidectomy and biopsy revealed benign thyroid tissue without any foci of microcarcinoma. A hypothesis of ectopic thyroid tissue and its malignant transformation was made. CONCLUSION: By presenting this case, our goal is to highlight and make the physicians aware of the possibility of developing primary carcinoma of the ectopic thyroid tissue, without an active tumor of the thyroid gland.


Asunto(s)
Carcinoma Papilar/complicaciones , Carcinoma Papilar/fisiopatología , Carcinoma Papilar/cirugía , Metástasis de la Neoplasia/fisiopatología , Cáncer Papilar Tiroideo/fisiopatología , Cáncer Papilar Tiroideo/cirugía , Disgenesias Tiroideas/fisiopatología , Adulto , Femenino , Humanos , Disgenesias Tiroideas/cirugía , Resultado del Tratamiento
16.
Radiol Case Rep ; 16(6): 1271-1275, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33854662

RESUMEN

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.

17.
Radiol Case Rep ; 16(6): 1368-1373, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33897931

RESUMEN

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.

18.
Radiol Case Rep ; 16(6): 1410-1419, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33912255

RESUMEN

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.

19.
Radiol Case Rep ; 16(5): 1075-1079, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33717386

RESUMEN

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.

20.
Radiol Case Rep ; 16(4): 789-794, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33537110

RESUMEN

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.

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