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Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review [Case Report]

Jauregui, Ruben; Abreu, Nicolas J; Golan, Shani; Panarelli, Joseph F; Sigireddi, Meenakshi; Nayak, Gopi K; Gold, Doria M; Rucker, Janet C; Galetta, Steven L; Grossman, Scott N
Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness. Wolfram syndrome, however, is phenotypically heterogenous with variable clinical manifestations and age of onset. We describe four cases of genetically confirmed Wolfram syndrome with variable presentations, including acute-on-chronic vision loss, dyschromatopsia, and tonic pupils. All patients had optic atrophy, only three had diabetes, and none exhibited the classic Wolfram phenotype. MRI revealed a varying degree of the classical features associated with the syndrome, including optic nerve, cerebellar, and brainstem atrophy. The cohort's genotype and presentation supported the reported phenotype-genotype correlations for Wolfram, where missense variants lead to milder, later-onset presentation of the Wolfram syndrome spectrum. When early onset optic atrophy and/or diabetes mellitus are present in a patient, a diagnosis of Wolfram syndrome should be considered, as early diagnosis is crucial for the appropriate referrals and management of the associated conditions. Nevertheless, the condition should also be considered in otherwise unexplained, later-onset optic atrophy, given the phenotypic spectrum.
PMCID:10376978
PMID: 37508961
ISSN: 2076-3425
CID: 5593192

An unusual anatomical variant: A transclival artery supplying the vertebrobasilar circulation

Raz, Eytan; Nayak, Gopi; Sharashidze, Vera; Nossek, Erez; Malak, Wassim; Bueno, Hugo; Komiyama, Masaki; Nelson, Peter Kim; Shapiro, Maksim
The persistent carotid-vertebrobasilar anastomoses are arterial communications between the anterior and posterior circulations due to the persistence of embryological connections. We here present an extremely rare instance of a transclival persistent carotid-vertebrobasilar anastomosis in a 10-month-old infant, which does not fit into any of the traditionally described categories, such as the trigeminal artery, hypoglossal artery, or proatlantal artery.
PMID: 37032452
ISSN: 2385-2011
CID: 5464012

Imaging of Facial Reconstruction and Face Transplantation

Nayak, Gopi K; Berman, Zoe P; Rodriguez, Eduardo D; Hagiwara, Mari
Pre- and postoperative imaging is increasingly used in plastic and reconstructive surgery for the evaluation of bony and soft tissue anatomy. Imaging plays an important role in preoperative planning. In the postoperative setting, imaging is used for the assessment of surgical positioning, bone healing and fusion, and for the assessment of early or delayed surgical complications. This article will focus on imaging performed for surgical reconstruction of the face, including orthognathic surgery, facial feminization procedures for gender dysphoria, and face transplantation.
PMID: 34809842
ISSN: 1557-9867
CID: 5063402

Cover Your Base: CT Review of Lower Neck and Thoracic Inlet Variant Anatomy and Pathology [Meeting Abstract]

Patil, S; Nayak, G; Young, M; Alpert, J
Background: The base of neck and thoracic inlet is sometimes considered a 'no man's land,' with imaging anatomy shared by both head and neck and thoracic radiologists. Informally, thoracic radiologists may endorse limited confidence with normal anatomy and pathology in this region, which serves as a conduit for several important anatomic structures. Further, thoracic radiologists may not be aware of the clinical impact of some anatomic variants and abnormalities (which may influence patient symptoms or affect surgical planning). Multiple factors contribute to variability in imaging appearances of the lower neck and thoracic inlet, including z-axis scan range and scan angle, patient kyphosis, and arm position. Accurate recognition of normal and variant anatomy is critical to detect pathology and minimize diagnostic error at the lower neck and thoracic inlet on chest computed tomography (CT). Educational Goals/Teaching Points: We aim to provide a systemsbased, image-rich review of normal and variant anatomy and pathology at the lower neck and thoracic inlet, primarily utilizing CT. When appropriate, the clinical relevance of anatomic variants will be discussed. Challenging and often overlooked pathology will be reviewed in an effort to build radiologists' confidence and improve diagnostic accuracy. This will include cross-sectional imaging of a variety of anatomic organs and systems: Upper aerodigestive tract including larynx and hypopharynx Vascular structures, including variant course, vessel thrombus, dissection, and aneurysm Endocrine glands, including ectopic thyroid, thyroglossal duct cyst, and parathyroid adenoma Lymphatics, including relevant nodal stations, and pathology including lymphocele Nervous system structures including brachial plexus, vagus nerve, recurrent laryngeal nerve, and cervical sympathetic trunk Musculoskeletal structures including cervical ribs and supernumerary heads of the sternocleidomastoid muscle
Conclusion(s): By reviewing normal and variant anatomy and clinically relevant pathology at the lower neck and thoracic inlet, thoracic radiologists can achieve greater diagnostic confidence and accuracy
EMBASE:636539726
ISSN: 1536-0237
CID: 5082972

Differentiation of Jugular Foramen Paragangliomas versus Schwannomas Using Golden-Angle Radial Sparse Parallel Dynamic Contrast-Enhanced MRI

Pires, A; Nayak, G; Zan, E; Hagiwara, M; Gonen, O; Fatterpekar, G
BACKGROUND AND PURPOSE:Accurate differentiation of paragangliomas and schwannomas in the jugular foramen has important clinical implications because treatment strategies may vary but differentiation is not always straightforward with conventional imaging. Our aim was to evaluate the accuracy of both qualitative and quantitative metrics derived from dynamic contrast-enhanced MR imaging using golden-angle radial sparse parallel MR imaging to differentiate paragangliomas and schwannomas in the jugular foramen. MATERIALS AND METHODS:test. A univariate logistic model was created with a binary output, paraganglioma or schwannoma, using a wash-in rate as a variable. Additionally, lesions were clustered on the basis of the wash-in rate and washout rate using a 3-nearest neighbors method. RESULTS:< .001). All 30 lesions were classified correctly by using a 3-nearest neighbors method. CONCLUSIONS:Paragangliomas at the jugular foramen can be reliably differentiated from schwannomas using golden-angle radial sparse parallel MR imaging-dynamic contrast-enhanced imaging when imaging characteristics cannot suffice.
PMID: 34503944
ISSN: 1936-959x
CID: 5033132

Cavernous sinus lesions

Munawar, Kamran; Nayak, Gopi; Fatterpekar, Girish M; Sen, Chandra; Zagzag, David; Zan, Elcin; Hagiwara, Mari
The cavernous sinus is a complex structure susceptible to a wide variety of vascular, neoplastic and inflammatory pathologies. Vascular pathologies include ICA aneurysms, carotid-cavernous fistulas, cavernous sinus thrombosis, and cavernous hemangioma. Neoplasms that involve the cavernous sinus include pituitary adenoma, meningioma, schwannoma, lymphoma, perineural tumor spread, metastases, and direct tumor invasion. Infectious and inflammatory diseases include Tolosa-Hunt syndrome, sarcoidosis, granulomatosis with polyangiitis, IgG-4 related disease and invasive fungal infections. In this article, we review the clinical and imaging findings of a number of pathologies involving the cavernous sinus, focusing on key features that can narrow the differential diagnosis and, in some cases, support a particular diagnosis.
PMID: 32574933
ISSN: 1873-4499
CID: 4493082

Clinical Use of Integrated Positron Emission Tomography-Magnetic Resonance Imaging for Dementia Patients

Shepherd, Timothy M; Nayak, Gopi K
Combining magnetic resonance imaging (MRI) with 2-deoxy-2-F-fluoro-D-glucose positron emission tomography (FDG-PET) data improve the imaging accuracy for detection of Alzheimer disease and related dementias. Integrated FDG-PET-MRI is a recent technical innovation that allows both imaging modalities to be obtained simultaneously from individual patients with cognitive impairment. This report describes the practical benefits and challenges of using integrated FDG-PET-MRI to support the clinical diagnosis of various dementias. Over the past 7 years, we have performed integrated FDG-PET-MRI on >1500 patients with possible cognitive impairment or dementia. The FDG-PET and MRI protocols are the same as current conventions, but are obtained simultaneously over 25 minutes. An additional Dixon MRI sequence with superimposed bone atlas is used to calculate PET attenuation correction. A single radiologist interprets all imaging data and generates 1 report. The most common positive finding is concordant temporoparietal volume loss and FDG hypometabolism that suggests increased risk for underlying Alzheimer disease. Lobar-specific atrophy and FDG hypometabolism patterns that may be subtle, asymmetric, and focal also are more easily recognized using combined FDG-PET and MRI, thereby improving detection of other neurodegeneration conditions such as primary progressive aphasias and frontotemporal degeneration. Integrated PET-MRI has many practical benefits to individual patients, referrers, and interpreting radiologists. The integrated PET-MRI system requires several modifications to standard imaging center workflows, and requires training individual radiologists to interpret both modalities in conjunction. Reading MRI and FDG-PET together increases imaging diagnostic yield for individual patients; however, both modalities have limitations in specificity.
PMID: 31794502
ISSN: 1536-1004
CID: 4240682

Imaging of salivary gland pathology

Nayak, G K; Hagiwara, M
The major salivary glands can be affected by a variety of acute or chronic, systemic, and neoplastic conditions. Several modalities can be used for salivary gland imaging, each with its own advantages and limitations. The article reviews the optimal imaging modality for different clinical scenarios, the typical imaging appearance of commonly encountered pathologies, and seeks to provide a framework for generating an appropriate differential diagnosis. Additionally, with regard to neoplastic conditions, the goals of the review are to highlight features suggestive of benign or low-grade lesions versus high-grade malignancy, while recognizing the limitations of imaging in making specific histologic diagnoses.
EMBASE:2001164080
ISSN: 1557-9395
CID: 3371012

Initial Performance of NI-RADS to Predict Residual or Recurrent Head and Neck Squamous Cell Carcinoma

Krieger, D A; Hudgins, P A; Nayak, G K; Baugnon, K L; Corey, A S; Patel, M R; Beitler, J J; Saba, N F; Liu, Y; Aiken, A H
BACKGROUND AND PURPOSE: The Head and Neck Imaging Reporting and Data System (NI-RADS) surveillance template for head and neck cancer includes a numeric assessment of suspicion for recurrence (1-4) for the primary site and neck. Category 1 indicates no evidence of recurrence; category 2, low suspicion of recurrence; category 3, high suspicion of recurrence; and category 4, known recurrence. Our purpose was to evaluate the performance of the NI-RADS scoring system to predict local and regional disease recurrence or persistence. MATERIALS AND METHODS: This study was classified as a quality-improvement project by the institutional review board. A retrospective database search yielded 500 consecutive cases interpreted using the NI-RADS template. Cases without a numeric score, non-squamous cell carcinoma primary tumors, and primary squamous cell carcinoma outside the head and neck were excluded. The electronic medical record was reviewed to determine the subsequent management, pathology results, and outcome of clinical and radiologic follow-up. RESULTS: A total of 318 scans and 618 targets (314 primary targets and 304 nodal targets) met the inclusion criteria. Among the 618 targets, 85.4% were scored NI-RADS 1; 9.4% were scored NI-RADS 2; and 5.2% were scored NI-RADS 3. The rates of positive disease were 3.79%, 17.2%, and 59.4% for each NI-RADS category, respectively. Univariate association analysis demonstrated a strong association between the NI-RADS score and ultimate disease recurrence, with P < .001 for primary and regional sites. CONCLUSIONS: The baseline performance of NI-RADS was good, demonstrating significant discrimination among the categories 1-3 for predicting disease.
PMID: 28364010
ISSN: 1936-959x
CID: 2508702

Illness Severity and Comorbidities Are Associated With Limitations in Computed Tomography Pulmonary Angiography

Nayak, Gopi K; Yu, Shun; Levsky, Jeffrey M; Haramati, Linda B
PMID: 27428023
ISSN: 1536-0237
CID: 2529872