Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease

The pathophysiology of startle disease (hyperekplexia) is unknown. Hyperactivity of the brainstem reticular formation has been suggested as a cause. We report a newborn infant with classic features of startle disease in whom cerebrospinal fluid (CSF) concentrations of gamma-aminobutyric acid (GABA)...

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Bibliographic Details
Published in:The Lancet (British edition) 1992-07, Vol.340 (8811), p.80-81
Main Authors: Dubowitz, L.M.S., Bouza, H., Hird, M.F., Jaeken, J.
Format: Article
Language:English
Subjects:
Acids
Babies
Biological and medical sciences
Brain
Brain stem
Cerebrospinal fluid
Cerebrospinal fluid (biochemistry, cytology, circulation, manometry). Intracranial pressure determination
Clonazepam
Clonazepam - administration & dosage
Clonazepam - therapeutic use
Convulsions & seizures
Disease
Electroencephalography
Female
gamma-Aminobutyric Acid - cerebrospinal fluid
Humans
Hyperactivity
Infant, Newborn
Infants
Investigative techniques, diagnostic techniques (general aspects)
Laboratories
Leprosy
Medical research
Medical sciences
Neurological disorders
Newborn babies
Pathophysiology
Phenobarbital - administration & dosage
Phenobarbital - therapeutic use
Pyridoxine - administration & dosage
Pyridoxine - therapeutic use
Reflex, Startle
Reticular formation
Spasms, Infantile - cerebrospinal fluid
Spasms, Infantile - diagnosis
Spasms, Infantile - drug therapy
Startle response
Syndrome
Taxonomy
γ-Aminobutyric acid
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Description
Summary:The pathophysiology of startle disease (hyperekplexia) is unknown. Hyperactivity of the brainstem reticular formation has been suggested as a cause. We report a newborn infant with classic features of startle disease in whom cerebrospinal fluid (CSF) concentrations of gamma-aminobutyric acid (GABA) were substantially lower than normal during the first weeks of life. She improved greatly on clonazepam treatment. We suggest that the signs of this disorder may be due to a genetic defect or to delayed maturation resulting in low CSF GABA.
ISSN:0140-6736
1474-547X
DOI:10.1016/0140-6736(92)90398-M