A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
Neuropsychiatric Involvement of Behcets Disease
www.SMGEbooks.com Dec, Soyak, M., 2017
Neurocutaneous Melanosis with Diffuse Leptomeningeal Malignant Melanoma in an Adult
Neurol 86:e75-e79, Bhatia, R.,et al, 2016
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
AJNR 35:119-123, Lin, D.D.M.,et al, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010
Clinicopath Conference: Secondary Syphilis Involving Skin and Optic Nerve (Neurosyphilis)
NEJM 363:865-874, Case 26: 2010, 2010
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Clinicopath Conf., Degoss Disease
NEJM 355:2575-2584, Case 38-2006, 2006
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Neurosarcoidosis:Signs, Course and Treatment in 35 Confirmed Cases
Medicine 69:261-276, Chapelon,C.,et al, 1990
Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
Neurol 37:446-450, Larsen,R.,et al, 1987
Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Pseudoxanthoma Elasticum:A Review of Neurological Complications
Ann Neurol 4:18, Iqbal,A.,et al, 1978
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Behcets Syndrome
NEJM 390:640-651, Saadoun,D.,et al, 2024
Leptomeningitis with Communicating Hydrocephalus in an Immunocompromised Patient with Disseminated Sporotrichosis
Neurol 103:e209586, Taborda,M.H.,et al, 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
A 62-Year-Old Woman with Transient Vision Loss
Neurol 101:e1097-e1103, Silva,L.M.T.,et al, 2023
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Clinical Characteristics, Risk Factors, and Outcomes of POEMS Syndrome
Neurol 95:e268-e279, Keddie, S.,et al, 2020
Central Nervous System Involvement in Erdheim-Chester Disease
Neurol 95:e2746-e2754, Aubart,F.C.,et al, 2020
Blurry Vision and a Black Ink Tattoo
JAMA 321:699-700, Piggott, K.D.,et al, 2019
Clinicopathologic Conference, Ocular Syphilis
NEJM 380:1062-1071, Case 8-2019, 2019
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Clinicopathologic Conference, Intracranial Hypertension Associated with Systemic Lupus Erythematosus and Steroid Use
NEJM 378:282-289, Case 2-2018, 2018
A 58-year-old Woman with Systemic Scleroderma and Progressive Cervical Cord Compression
Neurol 91:e1262-e1264, Karschnia, P.,et al, 2018
Behcet Disease
emedicine.medscape.com Dec, Davey-Ranasinghe, N. & Diamond, H.S., 2018
Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017
50 Year Old Man with Cloudy Vision, Hearing Loss, and Unsteadiness
NEJM 374:2586-2593, Eliott, D.,et al, 2016
Spectrum of Imaging Appearances of Intracranial Cryptococcal Infection in HIV/AIDS Patients in the Anti-Retroviral Therapy Era
Clin Radiol 71:9-17, Offiah, C.E. & Naseer, A., 2016
Parry Romberg Syndrome: 7 Cases and Literature Review
AJNR 36:1355-1361, Wong, M.,et al, 2015
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 960, Ropper, A.H.,et al, 2014
Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
NEJM 368:1971-1979, Shirley, M.,et al, 2013
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011