Petechial Rash in a Child with Autism and Trisomy 21

Abstract

A 10-year-old boy with Trisomy 21 presented to the emergency department with a history of rash on his legs, easy bruising and bleeding, and walking with a limp. One month prior to presentation, he had developed a non-pruritic, non-painful, petechial rash on his lower legs ( Figure 1). Eczema was suspected and he was treated with a topical steroid cream, but there was no improvement in the rash. Subsequently, he developed easy bruising and bleeding gums when brushing his teeth. The day prior to presentation, he began limping and then refused to walk. His parents also reported a several-month history of decreased appetite and poor weight gain. They deny any fever, night sweats, or recent illnesses.His medical history was also significant for autism, chronic constipation, and very restricted diet for the past 3 years. Over this time, his diet had been limited to peanut butter and jelly sandwiches, soy bacon, pasta, waffles, wheat porridge, cheese crackers, vanilla pudding, toaster pastries, chocolate sandwich cookies, and pretzels. He refused to eat all other foods. He was not taking any supplemental medications, vitamins, or alternative therapies. PHYSICAL EXAMINATIONOn presentation, he was noted to be a thin-appearing child who had fine, kinky hair. He was 24.5 kilograms (15 th percentile on growth curve for Trisomy 21). He had gingival swelling and bleeding around the base of several teeth, but otherwise good dentition without caries. There was blood in the left external auditory canal obscuring the left tympanic membrane; the right canal and right tympanic membrane were normal. Heart, lung, and abdominal examinations were unremarkable. His left knee was swollen without effusion or tenderness and had full range of motion; the right knee was normal. His skin was remarkable for perifollicular petechiae over bilateral lower extremities, face, and trunk, with scattered bruises over his legs. HOSPITAL COURSEHe was admitted to the hospital for further evaluation. Complete blood count, serum chemistries, liver function panel, and coagulation panel (prothrombin time, activated partial thromboplastin time, and international normalized ratio) were normal. Plain radiographs of the lower extremities were unremarkable. Additional laboratory testing confirmed the diagnosis.Editor's note: Each month, this department features a discussion of an unusual diagnosis. A description and images are presented, followed by the diagnosis and an explanation of how the diagnosis was determined. As always, your comments are welcome via email at pedann@Healio.com.

Rash and Arthralgias in a Teenager With Autism

“…These include hydroxylation of collagen, biosynthesis of carnitine and norepinephrine, the metabolism of tyrosine, and amidation of peptide hormones . These roles of vitamin C explain the myriad of manifestations in our patient including perifollicular hemorrhage, gingival bleeding and edema caused by diminished blood vessel integrity, corkscrew hairs due to reduced disulfide bonding, and normocytic normochromic anemia related to reduced iron absorption and bleeding …”

“…5 These roles of vitamin C explain the myriad of manifestations in our patient including perifollicular hemorrhage, gingival bleeding and edema caused by diminished blood vessel integrity, corkscrew hairs due to reduced disulfide bonding, and normocytic normochromic anemia related to reduced iron absorption and bleeding. 6 Magnetic resonance imaging (MRI)/magnetic resonance angiography was performed in our patient because it was unclear whether his extensive lower extremity swelling could be explained solely by scurvy. His MRI showed numerous diffuse-enhancing osseous lesions and significant subcutaneous edema, which shares some similarities to previously published descriptions on MRI findings in scurvy in children.…”

The risk for scurvy in children with neurodevelopmental disorders

“…Literature reviewed yielded 77 cases of scurvy described in 65 published papers (Table S1), in addition to the two cases described here 1,8,9,11‐73 …”