L-2-hydroxyglutaric aciduria in two siblings

László Sztriha, Aithala Gururaj, Peter Vreken, Michael Nork, Gilles G. Lestringant

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Two Pakistani siblings with L-2-hydroxyglutaric aciduria are reported herein. A 6-year-old male and a 2-year-old female, born to consanguineous parents, had chronic slowly progressive neurodegenerative disorder with insidious onset after infancy. Mental regression and seizures were evident in both patients, whereas cerebellar dysfunction was the main motor handicap in the male and pyramidal symptoms were prominent in the female. Magnetic resonance imaging revealed bilateral symmetrical abnormal signal in the subcortical white matter, internal and external capsules, basal ganglia, and dentate nuclei. The underlying metabolic defect, which is likely inherited in an autosomal recessive mode, remains unknown in this disorder.

Original languageEnglish
Pages (from-to)141-144
Number of pages4
JournalPediatric Neurology
Volume27
Issue number2
DOIs
Publication statusPublished - Aug 2002

Fingerprint

Basal Ganglia
Siblings
Cerebellar Diseases
Internal Capsule
Cerebellar Nuclei
Neurodegenerative Diseases
Seizures
Parents
Magnetic Resonance Imaging
2-Hydroxyglutaricaciduria
White Matter
External Capsule

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Sztriha, L., Gururaj, A., Vreken, P., Nork, M., & Lestringant, G. G. (2002). L-2-hydroxyglutaric aciduria in two siblings. Pediatric Neurology, 27(2), 141-144. https://doi.org/10.1016/S0887-8994(02)00405-8

L-2-hydroxyglutaric aciduria in two siblings. / Sztriha, László; Gururaj, Aithala; Vreken, Peter; Nork, Michael; Lestringant, Gilles G.

In: Pediatric Neurology, Vol. 27, No. 2, 08.2002, p. 141-144.

Research output: Contribution to journalArticle

Sztriha, L, Gururaj, A, Vreken, P, Nork, M & Lestringant, GG 2002, 'L-2-hydroxyglutaric aciduria in two siblings', Pediatric Neurology, vol. 27, no. 2, pp. 141-144. https://doi.org/10.1016/S0887-8994(02)00405-8
Sztriha, László ; Gururaj, Aithala ; Vreken, Peter ; Nork, Michael ; Lestringant, Gilles G. / L-2-hydroxyglutaric aciduria in two siblings. In: Pediatric Neurology. 2002 ; Vol. 27, No. 2. pp. 141-144.
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