Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
JAMA Neurol 73:668-674, Martikainen, M.H.,et al, 2016
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
Differential Diagnosis of Bilateral Abnormalities of the Basal Ganglia and Thalamus
RadioGraphics 31:5-30, Hegde,A.N.,et al, 2011
The Use of Neuroimaging in the Diagnosis of Mitochondrial Disease
Dev Disabil Res Rev 16:129-135, Friedman, S.D.,et al, 2010
Bilateral Thalamic Lesions
AJR 192:W53-W62, Smith,A.B.,et al, 2009
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
A 41-Year-Old Woman with Progressive Leg Weakness and Numbness, Dizziness, and Myalgia
Neurol 72:1262-1276, DiMauro,S.,et al, 2009
Clinicopath Conf., Leighs syndrome, Intraventricular Hemorrhage and Periventricular Leukomalacia
NEJM 359:1156-1166, Case 28-2008, 2008
The Incidence of Mitochondrial Encephalomyopathies in Childhood: Clinical Features and Morphological, Biochemical, and DNA Abnormalities
Ann Neurol 49:377-383, Darin,N.,et al, 2001
Leigh Syndrome: Serial MR Imaging and Clinical Follow-Up
AJNR 21:1502-1509, Arii,J. & Tanabe,Y., 2000
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Molecular Genetic Characterization of an X-Linked Form of Leigh's Syndrome
Ann Neurol 33:652-655, Matthews,P.M.,et al, 1993
The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
Ann Neurol 34:827-834, Santorelli,F.M.,et al, 1993
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Neurodegenerative Diseases of Childhood:MR and CT Evaluation
J Comput Assist Tomogr 15:210-222, Mirowitz,S.A.,et al, 1991
MR Findings in Patients with Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome)
AJR 154:1269-1274, Medina,L.,et al, 1990
Leigh Disease:Value of CT in Presymptomatic Patients and Variability of the Lesions with Time
J Comput Assist Tomogr 13:207-210, Taccone,A.,et al, 1989
Leigh Disease (Subacute Necrotizing Encephalomyelopathy) :CT & MR in Five Cases
J Comput Assist Tomogr 12:40-44, Geyer,C.A.,et al, 1988
Progressive Dystonia with Bilateral Putaminal Hypodensities
Arch Neurol 44:1184-1187, Berkovic,S.F.,et al, 1987
Infantile Beriberi Presenting as Subacute Necrotizing Encephalomyelopathy
J Pediatr 110:888-892, Wyatt,D.T.,et al, 1987
Magnetic Resonance Imaging in Autopsy-Proved Adult Subacute Necrotizing Encephalomyelopathy (Leigh's Disease)
Arch Neurol 44:563-566, Kissel,J.T.,et al, 1987
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Computerized Tomography in Subacute Necrotizing Encephalomyelopathy (Leigh Disease)
Ann Neurol 10:268-271, Schwartz,W.J.,et al, 1981
Hyper-Endorphin Syndrome in a Child With Necrotizing Encephalomyelopathy
NEJM 303:914-916, Brandt,N.J.,et al, 1980
Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
Ann Neurol 6:200-206, Kalimo,H.,et al, 1979
CT Scan Appearances in Leigh's Disease (Subacute Necrotizing Encephalomyelopathy)
Neuroradiology 16:48-50, Hall,K.,et al, 1978
Leigh's Disease in an Adult with Evidence of"Inhibitor Factor"in Family Members
Ann Neurol 3:519, Whetsell,W.O.,et al, 1978
Specificity of the Urine Inhibitor Test for Leigh's Disease
Neurol 24:885, Pincus,J.H.,et al, 1974
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973
Encephalomyelopathy of Leigh
Editorial BMJ 238, 1971, May., , 1971
"Infantile"Subacute Necrotizing Encephalopathy in the Adult
Neurol 19:749, Feigin,I.,et al, 1969
Subacute Necrotizing Encephalopathy in Late Adolescence
Arch Neurol 18:478, Hardman,J.M.,et al, 1968
Cerebellar Ataxia in Children
Handout & References., Gilbert,J.J., 1850
Clinicopathologic Conference, Vitamin B12 Deficiency Due to Pernicious Anemia
NEJM 390:747-756, Case 6-2024, 2024
Changing Trends in Demographics, Risk Factors, and Clinical Features of Patients with Infective Endocarditis-Related Stroke, 2005-2015
Neurol 100:e1555-e1564, Ridha,M.,et al, 2023
A Teenager with Chronic Meningitis-Does Occams Razor Apply?
Neurol 100:828-835, Havuluri,H.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Hyperpigmentation in Vitamin B12 Deficiency
NEJM 386:172, Sherman, S.V., 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Laboratory Diagnosis of Creutzfeldt-Jakob Disease
NEJM 386:1345-1350, Zerr, I., 2022
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Clinicopathological Conference, Chronic Candida Albicans Meningitis
NEJM 387:641-650, Case 25-2022, 2022
Clinicopathologic Conference, Encephalitis due to Behcets Disease
NEJM 387:925-933, Case 27-2022, 2022
Diagnostic Yield of ECG-Gated Cardiac CT in the Acute Phase of Ischemic Stroke vs Transthoracic Echocardiography
Neurol 99:e1456-e1464, Rinkel, L.A.,et al, 2022
Severe Vitamin B12 Deficiency Presenting as Pancytpenia, Hemolytic Anemia, and Parasthesia:Could Your B12 Be Any Lower?
Cureus doi:10.7759/cureus 29225, Pelling,M.M., et al, 2022