A Diagnostic Puzzle, Is it Brain Calcifications?

 
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A male infant presents with microcephaly, seizures, and multiple brain abnormalities including Dandy-Walker malformation and widespread calcifications. Despite classic presentation suggesting TORCH infection, all serological tests remained negative. This case demonstrates the diagnostic challenges in pediatric neurology when standard testing protocols don't provide answers. We examine the CT findings showing cerebellar vermian agenesis, lissencephaly, and corpus callosum agenesis - a constellation of findings that demands broader differential consideration beyond infectious etiologies.

PEDIATRIC ONCALL is the Web's most robust and integrated medical information and education tool with an extensive network of doctors as registered members.

#PseudoTORCHsyndrome #BaraitserReardonSyndrome #DandyWalkerMalformation #Microcephaly #RareDisease #Pediatrics #Neurology #MedicalCase #Genetics #Seizures #MedicalMystery #ClinicalCase

A Diagnostic Puzzle, Is it Brain Calcifications?

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Join in this Discussion: https://www.pediatriconcall.com/spot-diagnosis/intracranial-calcifications-with-dandy-walker-malformation/275

A male infant presents with microcephaly, seizures, and multiple brain abnormalities including Dandy-Walker malformation and widespread calcifications. Despite classic presentation suggesting TORCH infection, all serological tests remained negative. This case demonstrates the diagnostic challenges in pediatric neurology when standard testing protocols don't provide answers. We examine the CT findings showing cerebellar vermian agenesis, lissencephaly, and corpus callosum agenesis - a constellation of findings that demands broader differential consideration beyond infectious etiologies.

PEDIATRIC ONCALL is the Web's most robust and integrated medical information and education tool with an extensive network of doctors as registered members.

#PseudoTORCHsyndrome #BaraitserReardonSyndrome #DandyWalkerMalformation #Microcephaly #RareDisease #Pediatrics #Neurology #MedicalCase #Genetics #Seizures #MedicalMystery #ClinicalCase
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