Title : Microphthalmia, Microcornea, Low set ears
 
Clinical Problem : A 4 year old girl presented with recurrent seizures since 1 year of age which are generalized tonic clonic convulsions with clenching occurring once in 2-3 months. Mother had appendicitis in first trimester of pregnancy. A milestone in form of speech is delayed. The child is a full term normal delivery with birth weight of 2.2 kg. On examination, the child has microphthalmia, microcornea, low set ears, microcephaly {head circumference = 44 cm}. There was an ejection systolic-murmur in pulmonary area. Other systems are normal.
 
Question : What is the possible diagnosis_?
 
Expert Opinion : This child has presented with recurrent seizures. In addition, the child has dysmorphic features such as microphthalmia, microcornea and microcephaly suggestive of either an intrauterine infection or genetic disorder. The commonest IU infection in this child would be congenital rubella and seizures could be due to brain calcifications, malformations. In this child, urine for rubella was positive suggestive of diagnosis of Congenital rubella. Echocardiography was normal. ECG showed sinus bradycardia.

E-published: March 2013 Vol 10 Issue 3 Art No. 14
 
DOI No. : 10.7199/ped.oncall.2013.14
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