A 7 days old neonate presents with recurrent seizures. On examination, tachycardia and S3 gallop are present. Skull examination reveals loud bruit in anterior fontanelle. Blood investigations are Normal. Neurosonogram shows a hypoechoic lesion. What is the diagnosis?
Ref: Nelson s Textbook of Pediatrics. 19th EditionExplanation:Loud bruit in anterior fontanelle is pathognomonic of Vein of Galen malformationSoft symmetric cranial bruits may be discovered in normal children younger than 4 yr or in association with a febrile illness.Rarely, murmurs arising from the heart or great vessels may be transmitted to the cranium.Aneurysmal malformations of the vein of Galen (VGAM)The vein of Galen is located under the cerebral hemispheres and drains the anterior and central regions of the brain into the sinuses of the posterior cerebral fossa.VG AM results from an aneurysmal malformation with an arteriovenous shunting of blood.The congenital malformation develops during weeks 6-11 of fetal development as a persistent embryonic prosencephalie vein of Markowski; thus, VGAM is actually a misnomer. The vein of Markowski actually drains into the vein of Galen.VGAM typically result in high-output congestive heart failure or may present with developmental delay, hydrocephalus, and seizures.The vein of Galen abnormality is the MOST COMMON arteriovenous malformation in neonates.Signs and symptomsIt commonly presents in the neonatal period, although it may present later, in early childhood.Typically, in the neonatal period. VGAM presents with congestive heart failure, a cranial bruit, hydrocephaly, subarachnoid hemorrhage and marked carotid pulses.The heart failure is due to the size of the arteriovenous shunt that can steal 80% or more of the cardiac output, w ith large volumes of blood under high pressure returning to the right heart and pulmonary circulation and sinus venosus atrial septal defects.CCF is also the most common cause of death in VGAM.Neonates may present with tachypnea, respiratory distress, and cyanosis.They often require ventilatory support and institution of aggressive management of heart failure.Hydrocephalus may be the presenting feature in older infants ("sunseting sign" in the eye).Developmental delay: Signs of hydrocephalus and congestive heart failure should be looked for in infants with developmental delay.In early childhood, symptoms include headache, convulsive seizures, hydrocephalus, and cardiac failure.TreatmentNeurosurgical procedures to relieve hydrocephalus (A ventriculoperitoneal shunt)Open surgery has a high morbidity and mortality.Recent advances over the past few decades have made endovascular embolization the preferred method of treatment.Another treatment option is Radiotherapy. Radiotherapy, also called radiosurgery, involvesthe use of focused beams to damage the blood vessel.Management of CCF
Arachnoid cyst
Vein of Galen malformation
Dilated ventricles
Intraventricular hemorrhage
Nervous System Disorders