P0291 - I’m blue: raynauds in a toddler

Introduction
Raynaud’s Phenomenon (RP) is a well-known disorder of self-limiting paroxysmal vasospasms occurring in small arteries of the digits, in a well-documented order of skin pallor (white), then cyanosis (blue) , then hyperemia (red). RP is a very rare phenomenon in the young pediatric population and can be a finding of a serious illness in a setting of worsening findings.

Case description
A previously healthy 17-month-old girl presented to the emergency department (ED) for intermittent cyanosis of hands and feet that started 1 week ago in winter. With each episode of color change, the duration and intensity seemed to be getting progressively worse, lasting over hours on the day of presentation. The cyanosis was involving her fingertips, distal portions hands, toes and feet. These episodes would get worse with cold exposure. Parents noted that the child had shown no indications of discomfort or pain and has been using her hands and feet.

Patient’s maternal grandmother & maternal great grandmother were both diagnosed with Raynaud’s disease at adult ages.

Her physical exam was remarkable for the triphasic white/blue/red classical textbook findings of hand & feet over time, but the rest of her exam was unremarkable including good pulses in all 4 extremities, heart in RRR with S1 & S2 heard with no murmurs noted.
Her work up was initiated in a standalone emergency department including complete blood count and electrolytes which were unremarkable. However, given the continued cyanosis of fingers & toes the patient was transferred to a pediatric tertiary care facility for a second opinion and further management. There were a wide range of possibilities of secondary causes of RP which were further investigated which were all reportedly normal.

During her ED stay patient’s bluish discoloration transitioned to bright red, hyperemia and then slowly resolved returning back to baseline. With all her labs being reassuring, she was discharged from the emergency department with follow up instructed.
Given our patient’s strong family history, well appearing nature & classical triphasic color change consistent with RP and work up being negative most likely primary in nature.

Discussion
This case highlights that extremely young children present with classic exam findings of RP may be a benign finding if the patient is well appearing and the history and exam is less concerning for serious illnesses.
Several secondary causes were considered including hypoxemia, hypothyroidism, polycythemia, hematologic causes, toxicological causes and infectious causes like mycoplasma which may cause autoimmune hemolytic anemia.
The patient has been doing well since discharge with no significant episodes since the visit to the ED.

Conclusion
In general, this case of Raynaud’s highlights that the classic findings and course are of reassurance in the diagnosis even at this age.