Infantile Epileptic Spasms Syndrome (West Syndrome)
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,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
Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
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
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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A 30-Year-Old Woman Presenting with Rapidly Progressive Dementia and Extreme Hypoglycorrhachia
Neurol 102:e209188, Bai,X.,et al, 2024
A Woman With Multifocal Ischemic Strokes and Progressive Cognitive Impairment Due to Intravascular Lymphoma
Stroke 54:e488-e451, Stamm,B., et al, 2023
Clinical Characteristics, Risk Factors, and Outcomes of POEMS Syndrome
Neurol 95:e268-e279, Keddie, S.,et al, 2020
Toxidrome Recognition in Chemical - Weapons Attacks
NEJM 378:1611-1620, Ciottone, G.R., 2018
Clinicopathologic Conference, Advanced AIDS Complicated by HSV-1 Encephalopathy. Basal-Cell Carcinoma. Kaposis Sarcoma.
NEJM 376:2580-2589, Case 20-2017, 2017
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
AJNR 35:402-406, Bhargava, R.,et al, 2014
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Pellagra (Niacin, Nicotinic Acid, B3 Deficiency)
Adams & Victors Principles of Neurology Chp 41, pg 1170, 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
Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 2011
Clinicopath Conf, Neuro-Behcets Disease
NEJM 360:2341-2351, Case 17-2009, 2009
Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
JAMA 302:2111-2118, 2150, 2170, Messian,L.,et al, 2009
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Encephalitis in Cat Scratch Disease with Persistent Dementia
JNNP 55:133-135, Revol,A.,et al, 1992
Clinical Follow-Up and Immunogenetic Studies of 32 Patients with Eosinophilia-Myalgia Syndrome
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Cranial MR Imaging in Hypomelanosis of Ito
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Neurological Manifestations in Xeroderma Pigmentosum
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Pellagra, Endocronology System, Vol. 4
The Ciba Collection of Medical Illustrations, p. 254-255981., Netter,F.H., 1981
Behcet's Syndrome
NEJM 301:431-432, James,D.G., 1979
Pseudoxanthoma Elasticum:A Review of Neurological Complications
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Multiple Giant Perivascular Spaces in Hypomelanosis of Ito
Ann Neurol 99:825-826, Chammas,D.E.,etal, 2026
Behcets Syndrome
NEJM 390:640-651, Saadoun,D.,et al, 2024
Extrapulmonary Manifestations of Sarcoidosis
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Pathogenesis and Clinical Manifestations of IgG4-Related Disease
WWW.UptoDate.com, April, Moutsopoulos,H.M.,et al, 2023
A 62-Year-Old Woman with Transient Vision Loss
Neurol 101:e1097-e1103, Silva,L.M.T.,et al, 2023
Cutaneous Lesions and Leptomeningeal Carcinomatosis in Gastric Signet-Ring Cell Carcinoma
Neufol 101:e1104-e1105, Silverman,A.,et al, 2023
Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
Blurry Vision and a Black Ink Tattoo
JAMA 321:699-700, Piggott, K.D.,et al, 2019
Peripheral Neuropathy Associated with Silver Toxicity
Neurol 92:481-483, Naddaf, E.,et al, 2019
Clinicopathologic Conference, Ocular Syphilis
NEJM 380:1062-1071, Case 8-2019, 2019