Visual Diagnosis Week 1

Case 1:

This 4 mo old baby presents with this rash as well as new onset diarrhea, approximately 1 month after being weaned from breast milk. What is the likely diagnosis? What treatment does she require? 

infant with rash

Answer: Acrodermatitis Enteropathica

  • This is an autosomal recessive disorder that affects the uptake of zinc. The mutation involves a zinc uptake protein that is highly expressed in the duodenum and jejunum.
  • The disease usually presents soon after the infant is weaned from breast milk. Infants characteristically present with periorificial and acral dermatitis, alopecia, growth failure, and diarrhea.
  • Treatment includes lifelong zinc supplementation. All symptoms of the disease are reversible with zinc therapy. Without treatment, this disease is lethal in the first few years.

Case 2: 

This previously healthy 4 year old child presents with unilateral neck swelling after a recent trip to the beach. He is otherwise well. You decide to run some tests – WBC 8,000, CRP 1, PPD 2mm. What is the most likely culprit of this infection? What is the treatment of choice?

Answer: Nontuberculous Mycobacteria (NTM) 

  • NTM are ubiquitous in the soil and water.
  • Infections caused by NTM commonly manifest as cervical lymphadenitis in otherwise healthy children, usually before the age of 5 years. Fever and other systemic signs are usually absent.
  • The lymph nodes are usually unilateral and nontender. They characteristically will be described as being violaceous in color. To aid in the diagnosis, a PPD can be placed – which when positive, typically only is weakly reactive.
  • Treatment of choice is surgical excision. I&D/FNA biopsy may lead to sinus tract formation and is not recommended. They also do not respond well to standard antituberculous medications.