Question

A 2-year-old toddler is brought to the emergency room because of seizures, hemiparesis, and apparent blindness. You immediately notice a marked reddish discoloration of the left side of the forehead and face. The parents tell you that their child has not met appropriate developmental milestones. Your most likely diagnosis is:

A. Tuberous sclerosis
B. Sturge-Weber syndrome
C. Von Hippel-Lindau disease
D. Ataxia-telangiectasia
E. Fabry's disease

Answer 1

The likely diagnosis for the toddler is Sturge-Weber syndrome, indicated by seizures, developmental delays, hemiparesis, and the characteristic facial port-wine stain.

Step-by-step explanation:

The most likely diagnosis for a 2-year-old toddler presenting with seizures, hemiparesis, and apparent blindness, along with a marked reddish discoloration of the left side of the forehead and face, is Sturge-Weber syndrome (B). This condition is characterized by a congenital facial birthmark and neurological abnormalities. The developmental delays mentioned by the parents, alongside the distinctive facial port-wine stain, guide us to this diagnosis over the other options listed.

The presence of seizures, which are a common symptom in children with Sturge-Weber syndrome, helps distinguish it from conditions such as tuberous sclerosis or von Hippel-Lindau disease, which have different clinical presentations and are associated with different types of lesions or systemic symptoms.