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1.
Indian J Hum Genet ; 2011 Sept; 17(3): 226-228
Article in English | IMSEAR | ID: sea-138967

ABSTRACT

Aicardi syndrome is a genetic disorder characterized by the triad of infantile spasm in flexion, callosal agenesis and ocular abnormalities (chorioretinal lacunae, coloboma of optic disc). We report a typical case of Aicardi syndrome with all the classical features.


Subject(s)
Abnormalities, Multiple/epidemiology , Agenesis of Corpus Callosum/epidemiology , Agenesis of Corpus Callosum/genetics , Aicardi Syndrome/epidemiology , Aicardi Syndrome/genetics , Eye Abnormalities/epidemiology , Eye Abnormalities/etiology , Female , Humans , Infant , Joints/abnormalities , Seizures/epidemiology , Seizures/etiology
2.
Gazette of the Egyptian Paediatric Association [The]. 2001; 49 (4): 405-416
in English | IMEMR | ID: emr-145582

ABSTRACT

Agenesis of corpus callosum [ACC] is a common cerebral malformation in the pediatric age group. It is a heterogeneous anomaly, with many etiologies. The present study aimed at analysis of clinical profile of ACC among children presenting with neurological problems in a referral center set-up. Correlation of neurologic dysfunction with neuroimaging abnormalities was studied as well. The subjects of the study were children attending the Neuropediatric Clinic, at The Children Hospital Cairo University from June 1997 to October 2001. We selected those neurological patients who undenvent neuroimaging studies and were found to have corpus callosum agenesis. All patients had to have detailed medical history, full systemic and neurological examination; electroencephalogram in addition to brain K4RI. Children were investigated for any syndromic association, congenital infections, metabolic defects or chromosomal aberrations. Comprehensive developmental assessment using Bayley Scales of Infant Development [BSID] were also done. The study patients [n = 92] were mostly below the age of two years, with no sex preponderance. ACC was unrelated to perinatal history or parental consanguinity. Eighty five percent of patients presented with psychomotor retardation of which 34% had seizures; predominantly GTCS. Spasticity and microcephaly were common findings. Twenty seven percent had associated clinical abnormalities mostly facial dysmorphism and blindness. EEG was normal in 50%, epileptogenic in 27% and hypoactive in 23% of patients. ACC was syndromic in 42% of patients. Seventy five percent of patients had developmental delays [55% severe and 20% mild], severe retardation was significantly related to syndromic cases. On neuroimaging, complete agenesis was found in 62% of cases and 60% had associated neuroimaging abnormalities, more often in the form of brain atrophy. Prenatal cryptogenic etiology was evident in half of the cases


Subject(s)
Humans , Male , Female , Neurologic Manifestations , Electroencephalography , Tomography, X-Ray Computed , Magnetic Resonance Imaging , Agenesis of Corpus Callosum/genetics , Neuroimaging , Infant, Newborn
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