Childhood MELAS syndrome presenting with seizure and cortical blindness: A case report

Chinese Medical Journal (Taipei)

Volumn 61, Issue 12, 1998, Pages 730-735

  Liu, Ai Min ^b   Mak, Suk Chun ^a   Tsai, Chi Ren ^a   Chi, Ching Shiang ^a  

^a TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^b Department of Pediatrics   (Taiwan)

Author keywords

Cortical blindness; MELAS syndrome; Mitochondrial DNA point mutation; Seizure

Indexed keywords

LACTIC ACID; MITOCHONDRIAL DNA;

ARTICLE; CASE REPORT; CEREBRAL BLINDNESS; CORPUS STRIATUM; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LACTATE BLOOD LEVEL; MALE; MELAS SYNDROME; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; SCHOOL CHILD; SEIZURE;

BLINDNESS, CORTICAL; CHILD; DNA, MITOCHONDRIAL; HUMANS; MALE; MELAS SYNDROME; SEIZURES;

EID: 0032412136     PISSN: 05781337     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Pavlakis SG, Philips PC, DiMauro S, Darryl CD, De Vivo DC, Lewis PR. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 1984;16:481-8.
2. Nonaka I. Mitochondrial diseases. Curr Opin Neurol 1992;5:622-32.
3. Leu(UUR) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochem Biophys Res Commun 1994;202:1624-30.
4. Manfredi G, Schan EA, Moraes CT, Bonilla E, Berry GT, DiMauro S. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide code gene. Neuromuscular Disord 1995;5:391-8.
5. Montagna P, Gallassi R, Medori R, Govoni E, Zeviani M, DiMauro S, et al. MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. Neurology 1988;38:751-4.
6. Kuriyama M, Umezaki H, Fukuda Y, Osame M, Koike K, Tateishi J, Igata A. Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions. Neurology 1984;34:72-7.
7. Koo B, Becker LE, Chuang S, Merante F, Robinson BH, MacGregor D, et al. Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations. Ann Neurol 1993;34:25-31.
8. Mesa T, Hoppe A, Soza M. Mitochondrial encephalomyopathy, lactic acidosis and features of cerebrovascular disorders. Rev Chil Pediatr 1990;61:143-8.
9. Saitoh S, Kohsaka S, Mizukami S, Kajii N. Cortical reflex myoclonus associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): a case report. Brain Dev 1992;14:260-3.
10. Shanske AL, Shanske S, Silvestri G, Tanji K, Wertheim D, Lipper S. MELAS point mutation with unusual clinical presentation. Neuromuscular Disord 1993;3:191-3.
11. Veggiotti P, Colaamaria V, Dalla Bernardina B, Martelli A, Mangione D, Lanzi G. Epileptisia partialis continua in a case of MELAS: clinical and neurophysiological study. Neurophysiol Clin 1995;25:158-66.
12. Carroll JC, Nelson VS, Hurvitz EA, Priebe M. Home mechanical ventilation in mitochondrial encephalomyopathy syndrome. Arch Phys Med Rehabil 1995;76:1014-6.
13. Rosen L. Magnetic resonance imaging in MELAS syndrome. Neuroradiology 1990;32:168-71.
14. Damian MS, Seibel P, Reichmann H, Schachenmayr W, Laube H, Bachmann G, et al. Clinical spectrum of the MELAS mutation in a large pedigree. Acta Neurol Scand 1995;92:409-15.