4-Hydroxybutyric Aciduria as a Rare Presentation of Global Developmental Delay in Children: Case Report of Two Different Patients

نویسندگان

  • Asma Javid Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Farnoosh Ebrahimzadeh Department of Internal Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Mehran Beiraghi Toosi Department of Pediatric Neurology, Ghaem Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Nahid Donyadideh Department of Internal Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Narges Hashemi Department of Pediatric Neurology, Ghaem Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Rahim Vakili Department of Pediatric Endocrinology, Emam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Somayeh Hashemian Department of Pediatric Endocrinology, Emam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
چکیده مقاله:

Succinic semialdehyde dehydrogenase (SSADH) deficiency or 4-Hydroxybutyric Aciduria is an autosomal recessive inherited disorder of amma-aminobutyric acid (GABA) degradation. It is characterized by developmental delay, infantile-onset hypotonia, cognitive impairment language deficit, and ataxia. Epilepsy, aggression, Hyperkinetic behavior, hallucinations, and sleep disturbances have been described in about half of the patients, more frequently in older individuals. Its management is largely symptomatic, conducted at the treatment of seizures and neurobehavioral disorder. We present two girls with chief complaint of hypotonia and developmental delay how referred to department of Pediatrics (Ghaem hospital), Mashhad, Iran.

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عنوان ژورنال

دوره 6  شماره 7

صفحات  7861- 7865

تاریخ انتشار 2018-07-01

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