Faculty Bibliography

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.

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.

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.

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.

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.

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.

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.

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.

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.

There hasn't been a previous case report of the anterior interosseous nerve injury secondary to the presence of the muscle of Gantzer in a patient with myasthenia gravis in literature before. The anterior interosseous nerve compressive syndrome, also known as Kiloh-Nevin syndrome, is a rare disorder comprising less than 1% of all upper limb neuropathies. Establishing the etiology of anterior interosseous nerve compressive syndrome is challenging because of the lack of specific clinical findings or testing. Herein is the case of a 46 years-old male presented with left eye ptosis, ophthalmoparesis, diplopia, and right-hand weakness. On physical examination, the Pinch Grip test was positive. Electromyography studies showed neurogenic atrophy in the muscles innervated by the anterior interosseous nerve, as well as a pathological decrement of the muscle action potential of more than 10% on repetitive nerve stimulation. Concluding that the presence of the Gantzer muscle caused anterior interosseous nerve compressive syndrome was mainly a diagnosis of exclusion, after careful consideration of other possible etiologies including carpal tunnel syndrome, cervical radiculopathy, and Parsonage-Turner Syndrome. Even though anterior interosseous nerve compressive syndrome is very rare, clinical suspicion ought to arise in the presence of weak radial flexor digitorum profundus and flexor pollicis longus muscles. This case highlights the importance of a thorough medical history, a meticulous physical examination, and particularly the significance of electromyography studies in diagnosing different neuropathological entities. When appropriate, these steps offer information crucial to the differential diagnosis and eventual surgical management, assisting physicians in making informed and accurate treatment decisions.