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

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VAKILI RAHIM; BEIRAGHI TOOSI MEHRAN; Javid Asma; DONYADIDEH NAHID; Ebrahimzadeh Farnoosh; HASHEMI NARGES; HASHEMIAN SOMAYYEH

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Journal: Journal of Pediatric Perspectives Year:2018 | Volume:6 | Issue:7 (55) Page(s): 7861-7865

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Title

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

Author(s)

Keywords

Child

Developmental delay

4-Hydroxybutyric Aciduria

Hypotonia

Abstract

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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APA: Copy

VAKILI, RAHIM, BEIRAGHI TOOSI, MEHRAN, Javid, Asma, DONYADIDEH, NAHID, Ebrahimzadeh, Farnoosh, HASHEMI, NARGES, & HASHEMIAN, SOMAYYEH. (2018). 4-Hydroxybutyric Aciduria as a Rare Presentation of Global Developmental Delay in Children: Case Report of Two Different Patients. INTERNATIONAL JOURNAL OF PEDIATRICS, 6(7 (55)), 7861-7865. SID. https://sid.ir/paper/337549/en

Vancouver: Copy

VAKILI RAHIM, BEIRAGHI TOOSI MEHRAN, Javid Asma, DONYADIDEH NAHID, Ebrahimzadeh Farnoosh, HASHEMI NARGES, HASHEMIAN SOMAYYEH. 4-Hydroxybutyric Aciduria as a Rare Presentation of Global Developmental Delay in Children: Case Report of Two Different Patients. INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2018;6(7 (55)):7861-7865. Available from: https://sid.ir/paper/337549/en

IEEE: Copy

RAHIM VAKILI, MEHRAN BEIRAGHI TOOSI, Asma Javid, NAHID DONYADIDEH, Farnoosh Ebrahimzadeh, NARGES HASHEMI, and SOMAYYEH HASHEMIAN, “4-Hydroxybutyric Aciduria as a Rare Presentation of Global Developmental Delay in Children: Case Report of Two Different Patients,” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 6, no. 7 (55), pp. 7861–7865, 2018, [Online]. Available: https://sid.ir/paper/337549/en

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