Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency

William A. Zeiger, Lisa Sun, Thangamadhan Bosemani, Phillip L. Pearl, Carl Stafstrom

Research output: Contribution to journalArticle

Abstract

Background Succinic semialdehyde dehydrogenase deficiency is a rare neurological disorder resulting from impaired gamma-aminobutyric acid metabolism. The syndrome typically presents as a static encephalopathy with developmental delays, hypotonia, and seizures. Methods A six-month-old previously healthy girl developed acute choreoathetosis and severe hypotonia in the setting of influenza A infection. In our database of 112 patients with succinic semialdehyde dehydrogenase deficiency, one additional patient was identified who presented with an acute illness (encephalopathy associated with bronchiolitis at age five months). Results Urine organic acid and cerebrospinal fluid analyses confirmed elevated 4-hydroxybutyric acid in both cases, verified by enzymatic quantification in lymphocytes in the second patient. Brain magnetic resonance imaging scans in both cases showed bilateral symmetric T2 hyperintensities of globus pallidi. The lesions demonstrated restricted diffusion, consistent with acute symptom onset. Conclusions In contrast to most organic acidopathies, succinic semialdehyde dehydrogenase deficiency typically presents with nonprogressive global developmental delays. Here we report that succinic semialdehyde dehydrogenase deficiency can present fulminantly during a febrile illness as well as in the more common static fashion, thereby broadening the spectrum of onset patterns in this disorder.

Original languageEnglish (US)
Pages (from-to)113-115
Number of pages3
JournalPediatric Neurology
Volume58
DOIs
StatePublished - May 1 2016

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Brain Diseases
Muscle Hypotonia
Bronchiolitis
Globus Pallidus
Nervous System Diseases
gamma-Aminobutyric Acid
Human Influenza
Cerebrospinal Fluid
Seizures
Fever
Magnetic Resonance Imaging
Urine
Databases
Lymphocytes
Acids
succinic semialdehyde dehydrogenase deficiency
Brain
Infection

Keywords

  • ALDH5A1
  • chorea
  • gamma-aminobutyric acid (GABA)
  • gamma-hydroxybutyric acid (GHB)
  • hypotonia
  • succinic semialdehyde dehydrogenase deficiency (SSADHD)

ASJC Scopus subject areas

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

Cite this

Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. / Zeiger, William A.; Sun, Lisa; Bosemani, Thangamadhan; Pearl, Phillip L.; Stafstrom, Carl.

In: Pediatric Neurology, Vol. 58, 01.05.2016, p. 113-115.

Research output: Contribution to journalArticle

Zeiger, William A. ; Sun, Lisa ; Bosemani, Thangamadhan ; Pearl, Phillip L. ; Stafstrom, Carl. / Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. In: Pediatric Neurology. 2016 ; Vol. 58. pp. 113-115.
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