Baló Concentric Sclerosis Mimicking Encephalitis with Seizures and Progressive Aphasia in a 26-Year-Old Woman: A Challenging Diagnostic Dilemma.

Introduction: Baló's concentric sclerosis (BCS) is a rare subtype of multiple sclerosis characterized by inflammatory demyelination within the central nervous system. Case Presentation: This case report presents a challenging diagnostic scenario involving a 26-year-old woman diagnosed with BCS. Despite treatment, her condition did not ameliorate, and magnetic resonance imaging (MRI) findings remained unchanged. A subsequent stereotactic biopsy revealed tumefactive Balo disease, highlighting the intricate diagnostic and therapeutic issues surrounding BCS. Conclusion: The juxtacortical location of the BCS lesion, as observed in our case, suggests an unfavourable prognosis due to treatment-resistant seizures.

Annular pancreas: Beneath the intestinal obstruction-A case report.

Annular pancreas is an uncommon congenital anomaly which is a rare cause of congenital duodenal obstruction. It is normally identified during the neonatal period, but may also be identified in adolescence or adulthood. This diagnosis is often overlooked in adult patients who present with symptoms suggestive of duodenal obstruction. We present a case of AP detected in a 23-year-old man, with complaints of continuous vomiting and abdominal discomfort over the last 6 months. An upper gastrointestinal study revealed a constricted second part of the duodenum. A computed tomography scan revealed a complete ring of pancreatic tissue around the second part of the duodenum. Diagnostic and therapeutic surgery decompresses the external obstruction. The patient had an early post-operative activation. No specific guidelines and protocols exist about the management of such cases. Given the rarity of this congenital anomaly, presenting with chronic partial duodenal obstruction, and its successful surgical treatment, have prompted us to report the case along with a brief review of literature about the subject.

Superficial intraventricular surface siderosis brain.

Superficial siderosis of the central nervous system is a chronic condition characterized by hemosiderin deposition in the brain and spinal cord. It's diagnosed by brain MRI. It can be caused by low-grade extravasation of blood into the subarachnoid space of the brain. There are 2 types of superficial siderosis cortical and infratentorial. Although asymptomatic in many cases; Cerebellar-predominant siderosis, a subtype of infratentorial, can affect hearing, gait, and even muscles. In this report, we present a case of a 51-year old female with complaints of hearing loss, unsteadiness in his lower limb, and spastic paresis. During MRI neuroimaging, we noticed findings of hypointensity areas within the brainstem and cerebellum, probably due to hemosiderin deposition. Based on the MRI findings, the patient was diagnosed with superficial siderosis. The patient was started on deferiprone and followed for the consecutive 18 months. Moderate improvement of the hearing loss and ataxia was noted while no change in muscle force. However, the repetitive MRI did not reveal any changes compared to the previous one.

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.

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.

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.

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.

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.

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 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.

Choroid Plexus Papilloma - Case Presentation.

AIM: Choroid plexus papilloma (CPP) according to the latest WHO classification system in 2016 are an uncommon, benign (WHO grade I) neuroepithelial intraventricular tumor derived from choroid plexus epithelium, which can occur in both the pediatric and adult population. These tumors account for approximately 1% of all brain tumor 2-6% of pediatric brain tumors and 0.5% of adult brain tumors. CASE PRESENTATION: A 2-year-old female is presented at the Pediatrics Clinic at the University Clinical Center of Kosovo in a febrile, lethargic state and the anterior fontanelle is tense and swollen. The patient's parents indicate that symptoms such as food refusal, apathy, speechlessness and low mood were presented a week earlier. CONCLUSION: Choroid plexus papilloma is a rare tumor without specific clinical patterns or imaging findings. In our presentation we have presented the role of symptoms in the detected and diagnostic of choroid plexus papilloma. Not every headache is a symptom of choroid plexus papilloma.

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.

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.

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.

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.

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.

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.

The Importance of Magnetic Resonance in Detection of Cortical Dysplasia.

Focal cortical dysplasia is a malformation of cortical development in which there are abnormalities with cortical lamination, neuronal maturation, and neuronal differentiation. It is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults. Herein, we present the case of 23-years-old female patient, presenting with loss of consciousness, and convulsions. A MRI revealed a 5mm cortical thickening on either side of the posterior aspect of the right superior temporal gyrus without transmantle extension towards ventricle. This abnormal area is measured about 24x16mm and there was no evidence for mesial temporal sclerosis. Both hippocampi are normal is size, morphology and signal. These features are consistent with cortical dysplasia type 1. This case report emphasizes the importance of MRI in the detection of FCD. MRI can show no abnormalities in type 1 FCD, but when the changes are apparent, they are on the temporal lobe, and seizures presents most commonly in adults.

Rathke's Cleft Cyst or Pituitary Apoplexy: A Case Report and Literature Review.

BACKGROUND: During the examination of the sellar region by magnetic resonance imaging, hyperintensity in T1 weighted is a common finding. This signal intensity has different sources, and its significance depends on the clinical context. Pathologic variations in T1 signal hyperintensity may be related to clotting of blood (pituitary apoplexy) or the presence of a high concentration of protein (Rathke cleft cyst). The purpose of this study is to describe the significance of intracystic nodule, a diagnostic characteristic found in Rathke's cleft cyst, on MRI. CASE REPORT: We will present the case of a 20-year-old girl which referral to our hospital for head examination with magnetic resonance imaging because she has a post-traumatic headache. Pathological findings presented in T1-weighted hyperintensity intrasellar which persist even in T1 weighted-Fat suppression. These changes signal the presence of methemoglobin imposes. The patient is a referral to laboratory tests which result in rate except for slight value increase of prolactin. Recommended controller examination after a month but finding the same results which exclude the presence of methemoglobin. CONCLUSION: Morphological characteristics and signal intensity can impose the presence of high concentration of protein (Rathke cleft cyst).

Influence of Gender and Age on Average Dimensions of Arteries Forming the Circle of Willis Study by Magnetic Resonance Angiography on Kosovo's Population.

BACKGROUND: Circulus arteriosus cerebri is the main source of blood supply to the brain; it connects the left and right hemispheres with anterior and posterior parts. Located at the interpenducular fossa at the base of the brain the circle of Willis is the most important source of collateral circulation in the presence of the disease in the carotid or vertebral artery. AIM: The purpose of the research is to study the diameter and length of arteries and provide an important source of reference on Kosovo's population. METHODS: This is an observative descriptive study performed at the University Clinical Center of Kosovo. A randomised sample of 133 angiographic examinations in adult patients of both sexes who were instructed to exploration is included. RESULTS: The diameters and lengths measured in our study were comparable with other brain-cadaver studies especially those performed by MRA. All dimensions of the arteries are larger in male than female, except the diameter of PCoA that is larger in female (p < 0.05) and length of the ACoA (p < 0.05). Significant differences were found in diameters of arteries between the younger and the older age groups. CONCLUSION: Knowing the dimensions of the arteries of the circle of Willis has a great importance in interventional radiology as well as during anatomy lessons.