Differential Diagnosis for Right Frontal Heterotopia and Left Frontal AVM
Single Most Likely Diagnosis
- Sturge-Weber Syndrome: This diagnosis is likely due to the presence of a vascular malformation (AVM) and a neuronal migration disorder (heterotopia), which are both characteristic features of Sturge-Weber Syndrome.
Other Likely Diagnoses
- Tuberous Sclerosis Complex (TSC): TSC can cause cortical tubers, which are similar to heterotopias, and can also be associated with vascular malformations, including AVMs.
- Neurofibromatosis Type 1 (NF1): NF1 can cause vascular malformations, including AVMs, and can also be associated with neuronal migration disorders, such as heterotopias.
Do Not Miss Diagnoses
- Von Hippel-Lindau Disease (VHL): VHL can cause vascular malformations, including AVMs, and can also be associated with tumors that may cause symptoms similar to those of heterotopias.
- Hereditary Hemorrhagic Telangiectasia (HHT): HHT can cause vascular malformations, including AVMs, which can be life-threatening if ruptured.
Rare Diagnoses
- Fabry Disease: Fabry disease is a rare genetic disorder that can cause vascular malformations, including AVMs, and can also be associated with neuronal migration disorders.
- Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): SSADHD is a rare genetic disorder that can cause neuronal migration disorders, including heterotopias, and can also be associated with vascular malformations.