October Week 3: Neurocutaneous Disorders


Nelson’s Textbook of Pediatrics. “Neurocutaneous Syndromes.” Part XXIV, Chapter 596.

Case 1:

You are called by a nurse in the newborn nursery to evaluate a birthmark on a baby who was born a few hours ago. At the bedside, you find the newborn to be stable, active, and with a flat red lesion on the face as seen here:

face of infant with birthmark

What is this birthmark? What disease is it associated with? 
What further evaluation would you do? 
The parents want to know what they should look for at home. What do you tell them?

Case 2:

You are seeing a 3 year old boy who just moved to your area. Mom reports he was seen in the ER 2 nights ago for seizures. On exam, he has multiple hypopigmented macules on his trunk and extremities that are all 1 cm or less in diameter (see photo). He has been having increasing frequency of generalized seizures so you order and MRI which reveals multiple subependymal nodules which extend into the ventricular cavity. Mom also reports his 8 month old brother was recently diagnosed with infantile spasms.

image of skin café au lait spots

What is your diagnosis? 
What other skin manifestations are common with this disease?
What further evaluation does this patient need?

Case 3:

A 9 year old boy is referred to you by his school nurse for an elevated blood pressure. He is healthy except for occasional headaches and a learning disability. On exam, his BP is 142/92, HR is 82, RR is 18. He has 6 café au lait spots each about 1 cm in diameter and a few freckles under his arms.

What is your diagnosis? What are the diagnostic criteria for this disease? 
Mom is pregnant and wants to know what is the risk of this condition for that child. What do you tell her?