Overview of the Head and Neck Hemangiomas: a 5-year Retrospective Study.

Background: Infantile hemangiomas (IHs) are benign vascular tumors commonly observed in children. The pathogenesis of hemangiomas is complex and poorly understood. IH occur most commonly on the head and neck. There are different classification of them according to the depth, number, distribution and locations. A multidisciplinary approach is needed for the diagnosis and treatment of hemangiomas because it is easy to misdiagnose or decide on a wrong treatment in the existing single-treatment system. Objective: In this retrospective study between 2018 and 2022 we provided an overview of the hemangiomas located in the head and neck in 232 patients, and the different treatment approaches used. Results: Of the 232 patients 60.3 % were females and 38.7% males. The youngest age was 10 weeks old and the oldest age who underwent treatment was 79 years old. The most common lesion sites were the mid-cheek, the upper lip and the upper eyelid. 104 patients (53.4 %) underwent surgical intervention due to the location of the lesion, size and functional reasons. Meanwhile 128 patients (46.6 %) were observed and treated with propranolol and pulsed dye laser. Conclusion: Hemangiomas are generally benign tumors. Hemangiomas present a number of diagnostic and therapeutic challenges; thus, early diagnosis by a specialist clinic is key in preventing associated morbidity with these vascular tumors.

Transverse myelitis in a 26-year-old male with tuberculosis.

Acute transverse myelitis is an inflammatory condition covering the entire cross section of the spinal cord, spreading on two or more vertebral segments, without evidence of a compressive lesion. This shows clinically as an acute or subacute onset of paraparesis, lower limb paresthesia, sensory deficits, and impaired sphincter function. Mycobacterium tuberculosis is exceedingly rare cause of this inflammation, with a mechanism still not fully understood. The main etiologies are thought to be an abnormal activation of the immune system against the neuronal cells of the medulla, direct inoculation of the bacillus, and the toxic effect of the antitubercular medications on the spinal cord. We present the case of a 26-year-old male patient with acute symptoms of transverse myelitis and presence of miliary tuberculosis of the lungs. The purpose of this case report is to put the emphasis on the importance of distinguishing the characteristics of tubercular lesions on imaging modalities, especially on magnetic resonance imaging, in the differential diagnosis of tuberculosis as a rare but profoundly serious cause of acute transverse myelitis.

Gorham-Stout disease, a diagnosis of exclusion.

Gorham-Stout disease (GSD) also known as vanishing bone disease is an idiopathic and rare condition 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 and often diagnosed by elimination. We report a case of GSD in a 41-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 lumber 2 spinous process for histological examination. Unfortunately, no diagnosis was reached. Although, he was treated symptomatically, he kept enduring pain and presented again after 7 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 lesion with cavernous morphology respectively. 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. Patient was counseled to see the specialist regularly. This case will help to increase familiarity and shed insights in the diagnosis of GSD.

Septo-optic dysplasia in an infant.

Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his name. SOD is a combination of triads of hypoplasia of the optic nerve, agenesis of midline brain structures, and hypoplasia of the hypothalamic-pituitary axis. The pathophysiology of this rare congenital anomaly is yet to be understood, with some hypotheses in order to establish the diagnosis. The management modality depends on the presentation of the disease and requires a multidisciplinary approach. While most SOD patients present with visual, neurological, or endocrine abnormalities, in our case the patient was diagnosed incidentally while following up after an episode of acute respiratory distress syndrome and sepsis. We aim to highlight the aspects of clinical presentation in a patient with SOD and the importance of a multimodality follow-up approach.

Mixed germ cell tumor of the pineal gland in a pediatric patient.

Tumors of the pineal region are a rare clinical entity, comprising approximately 3%-8% of pediatric tumors. Based on their histopathological features, they are typically classified as pineal parenchymal tumors and germ cell tumors, with the latter being more prevalent. Clinical presentation is heterogeneous, with symptoms arising either due to tumor invasion or compression of adjacent neurovascular structures and increased intracranial pressure. Imaging studies are paramount in evaluating pineal region lesions and establishing an accurate diagnosis, with MRI representing the gold standard. Herein, we present the case of a 16-year-old boy presented with recurrent headaches. A head MRI revealed a pineal gland lesion. Histopathological examination confirmed the diagnosis, and the patient underwent a successful gross total resection (GTR) of the tumor. This case report seeks to draw attention to the elusive clinical presentation and management of this infrequently encountered tumor, as well as emphasize the importance of considering pineal gland tumors in the differential diagnosis of recurrent, chronic headaches in pediatric patients.

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.].

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.

Anterior interosseous nerve lession and distal myoclonus revealing a parsonage turner syndrome associated with hashimoto thyroiditys.

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.

Ectopic thyroid tissue in the anterior mediastinum along with a normally located gland.

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.

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.

Ectopic Thyroid Papillary Carcinoma with Cervical Lymph Node Metastasis as the Initial Presentation, Accompanied by Benign Thyroid Gland.

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.

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.

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.

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.

Treatment of vascular soft tissue malformations: A retrospective study of 90 patients from Albania.

Vascular malformations (Vascular Malformation) of soft tissue are a consequence of abnormal development of vascular elements during embryogenesis. They are named after the vessel responsible. Their presence at birth raises the hypothesis of an intrauterine etiology of Vascular Malformation, but the influence of other factors may play an important role in their appearance, localization, and size. The literature suggests that treatment of Vascular Malformation is rarely surgical. Surgery is applied in cases of voluminous malformations and in cases of possible hemorrhagic complications. Meanwhile, patient outcomes have improved with new discoveries in laser technology for the treatment of Vascular Malformation, especially those of capillaries and the results are, in most of the cases, quite satisfactory and without significant complications. After institutional review board approval, we collected and analyzed the medical records of 90 patients diagnosed with Vascular Malformation, between January 2015 and December 2019 at the service of Burns and Plastic Surgery, "Mother Teresa" University Hospital Center of Tirana, Albania and from another private clinic in Tirana. Data were collected from the medical records on patient's charts. The aim of this study is to analyze different treatment modalities and the outcomes achieved for each group.

Undesirable Outcomes from Liposuction of the Calves and Ankles, what to Avoid?

INTRODUCTION: Liposuction, is amongst the most popular cosmetic surgical procedures worldwide and is pretty safe with a very low incidence of major complications in the hands of skilled plastic surgeons. As a matter of fact, a faultless liposuction of the calves and ankles is near the top of the list in providing a high satisfaction rate. AIM: We present a case of 38-year old female with severe complication from liposuction of the thighs, calves and ankles with dimples and contour irregularity. RESULTS: The results were very bad aesthetically with over correction liposuction of the calves and a lot of contour surface irregularity, asymmetry, dimples and grooves. We recommended her several procedures of autologous fat grafting in the calves, to improve the contour irregularities, and the patient agreed to it. CONCLUSION: The surgeon should be very cautious in examining the patient in details to see if liposuction of the calves and ankles is the proper procedure to address their interest. Several times it is required to combine different refinement techniques to achieve patients' aesthetic requests and enhance their appearance.