Tuberous sclerosis in a term newborn with opisthotonus - The value of ultrasound

足月新生儿角弓反张伴结节性硬化症——超声检查的价值

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Abstract

PURPOSE: We describe the clinical findings and the results of cerebral imaging studies [ultrasound (US), magnetic resonance imaging (MRI)] in a full-term newborn with tuberous sclerosis (TS) complex. This condition is inherited as an autosomal dominant trait and characterized by hamartomas involving multiple organs. Diagnosis is based on physical examination together with imaging support. METHODS: Since the TS complex can result in numerous CNS abnormalities, cerebral US should be used to further characterize this malformation. CONCLUSION: Sonography is a useful modality for evaluation of the full-term neonatal brain.

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