Syndrome

A Paula Grigorian


BASICS


DESCRIPTION


• Genetic neurodevelopmental disorder characterized by the triad of:


– Infantile spasm type seizure disorder


– Agenesis of corpus callosum


– Chorioretinal lacunae


EPIDEMIOLOGY


Incidence


Unknown but very rare


Prevalence


Kroner (1) estimated there to be greater than 853 cases in the US and several thousand cases worldwide.


RISK FACTORS


None known, genetic disorder


Genetics


• Presumed X-linked dominant disorder


• Lethal in males, affected surviving males rare and usually have chromosomal aberration of sex chromosomes (e.g., translocation, XXY)


• No gene definitively identified


• Phenocopy del1p36


(NOTE: Not to be confused with Aicardi-Goutières syndrome)


GENERAL PREVENTION


• Unknown, prenatal genetic testing not available


• Prenatal ultrasound can detect corpus callosum abnormalities


PATHOPHYSIOLOGY


Developmental defect presumably of neuroectoderm


ETIOLOGY


Presumed gene mutation


COMMONLY ASSOCIATED CONDITIONS


• Ocular associations


– Cardinal feature: Chorioretinal lacunae (see below)


– Congenital optic disc anomalies: Coloboma, hypoplasia, congenital pigmentation


– Microphthalmia, retinal detachment, nystagmus


• Systemic associations


– Vertebral malformations: Fused vertebrae, scoliosis, spina bifida, costal malformations (absent ribs, fused or bifurcated ribs)


– Muscular hypotonia, microcephaly, dysmorphic facies, auricular anomalies


– Brain anomalies: Dysgenesis of the corpus callosum (complete or partial), cerebral asymmetry with polymicrogyria or pachygyria, periventricular and intracortical gray matter heterotopias, midline arachnoid cysts, choroid plexus papillomas, and ventriculomegaly and intracerebral cysts, often at the third ventricle and in the choroid plexus. Severe mental retardation


– Gastrointestinal: Constipation, diarrhea, gastroesophageal reflux, difficulty feeding


– Integument: Vascular and pigmented lesions


DIAGNOSIS


HISTORY


Infants 3–5 months of age may present with: Decreased visual acuity, amblyopia, or strabismus, but more often present with neurological manifestations of developmental delay, hypotony, and intractable seizures


PHYSICAL EXAM


• Classic triad


– infantile spasms


– agenesis of corpus callosum


– chorioretinal lacunae


• Major features


– Cortical malformations (mostly polymicrogyria)


– Periventricular and subcortical heterotopias


– Cysts around third cerebral ventricle and/or choroid plexus


– Optic disc/nerve coloboma or hypoplasia


• Supporting features


– Vertebral and rib abnormalities


– Microphthalmia


– “Split-brain” EEG, infantile spasm hypsarrhythmia


– Cerebral hemispheric asymmetry


– Vascular malformations or vascular malignancy



ALERT


• All 3 classic features present are diagnostic for Aicardi syndrome.


• 2 classic features plus 2 other major or supporting features are suggestive

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Nov 9, 2016 | Posted by in OPHTHALMOLOGY | Comments Off on Syndrome
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