Neurological disease in a child: Infantile spasm Flashcards
Define infantile spasm.
Affects infants aged 4-8 months. Clusters of myoclonic spasms; classic ‘salaam’ attack where the child jerks forward with arms flexed and hands extended. Usually have chronic epilepsy and developmental delay.
What are risk factors for infantile spasm?
Often classified into prenatal, perinatal and postnatal groups. Accounting for over 40 percent of total cases, prenatal etiologies include CNS malformations (focal cortical dysplasia, lissencephaly, holoprosencephaly, hemimegalencephaly, Callosal agenesis/Aicardi syndrome), chromosomal abnormalities (trisomy 21, Miller-Dieker syndrome), single-gene errors, neurocutaneous syndrome (TS, NF1, incontinentia pigmenti), congenital central nervous system infections (TORCH), and rarely, in-born error of metabolism.
Perinatal precipitants include hypoxic ischemic encephalopathy and hypoglycemia.
Postnatal factors include intracranial infections, hypoxic-ischemic insults, and brain tumors.
Overall, cortical malformations, hypoxic-ischemic, and tuberous sclerosis are the most common known associated disorders.
Explain the pathophysiology of infantile spasms.
One hypothesis proposes that stress from variable causes in early development leads to the release of corticotropinreleasing hormone (CRH), which then causes increased neuronal excitability and seizures.
Supporting evidence for this CRH excess hypothesis are decreased levels of ACTH in the cerebrospinal fluid of patients with ISs and the known efficiency of ACTH and glucocorticoids in the treatment of IS.
Summarise the epidemiology of infantile spasm.
Occurs most often in first year of life with an incidence of approximately 1 per 2000-4000 live births.
What are the signs and symptoms of infantile spasms?
Sudden, generally bilateral and symmetric contractions of muscles of the neck, trunk, and extremities.
What are appropriate investigations for infantile spasms?
What is the management for infantile spasms?
ACTH
Prednisolone
Vigabatrin
Ketogenic diet
What are complications associated with infantile spasm?
Lennox-Gastaut syndrome: A severe form of childhood epilepsy, characterised by a predominance of tonic and atonic seizures and atypical absence seizures. This epilepsy syndrome can evolve from infantile spasms.
Developmental delay
Early death
What is the prognosis of infantile spasm?
33% of the patients die before 3 years of age and 50% before 10 years of age. Visual and auditory defects are present in one-third to one-half of affected children. Mental retardation was observed in 71-90% of patients.
There is growing evidence that longer duration of spasms is associated with less neurodevelopmental outcomes. Currently, there is no evidence that medical or surgical treatment of IS can significantly alter long-term outcome.
