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Titolo:
Lipid myopathy associated with renal tubular acidosis and spastic diplegiain two brothers
Autore:
Tung, YC; Tsau, YK; Chu, LW; Young, C; Shen, YZ;
Indirizzi:
Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, Taiwan Natl Taiwan Univ Hosp Taipei Taiwan 10016 t Pediat, Taipei 10016, Taiwan
Titolo Testata:
JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
fascicolo: 7, volume: 100, anno: 2001,
pagine: 484 - 487
SICI:
0929-6646(200107)100:7<484:LMAWRT>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
RILEY-RUVALCABA-SYNDROME; CYTOCHROME-C-OXIDASE; CARNITINE DEFICIENCY; MUSCLE; CARDIOMYOPATHY;
Keywords:
lipid myopathy; renal tubular acidosis; spastic diplegia;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Young, C Natl Taiwan Univ Hosp, Dept Pediat, 7 Chung Shan S Rd, Taipei 10016, Taiwan Natl Taiwan Univ Hosp 7 Chung Shan S Rd Taipei Taiwan 10016 iwan
Citazione:
Y.C. Tung et al., "Lipid myopathy associated with renal tubular acidosis and spastic diplegiain two brothers", J FORMOS ME, 100(7), 2001, pp. 484-487

Abstract

Lipid myopathy is a group of disorders involving mitochondrial fatty acid oxidation. We describe two brothers, 3 years 8 months old and 2 years 9 months old, respectively, with progressive spastic diplegia, developmental delay, failure to thrive, and chronic metabolic acidosis who had lipid myopathy and renal tubular acidosis. Brain magnetic resonance imaging revealed demyelinating changes ill the periventricular white matter, which was compatible with spastic diplegia. These symptoms may be related to errors in fatty acid metabolism. Cerebral palsy had been misdiagnosed in both of these patients at another hospital. Therefore, for patients with late-onset and progressive spastic diplegia, detailed investigations for underlying diseases are warranted.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 14/07/20 alle ore 10:18:39