Healthy toddler with refusal to walk

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ESPR435
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History: Patient is a healthy 2 year old boy presenting with inability to bear weight on bilateral lower extremities for two weeks.  One month prior to presentation, he developed fever and cough for three days, following which he developed hesitancy while walking which progressed to refusal to bear weight. MRI of his hip at an outside facility showed a superficial left gluteal abscess for which he was treated with Trimethoprim / Sulfamethoxazole for 7 days. However, due to persistence of his symptoms he presented to the ED, where he provides history of frequent gingival bleeding. There is no history of joint swelling, redness, rash, diarrhea or tick bites. Past and family history are non contributory. 

Physical examination: Patient is well appearing. He keeps his knees and hips flexed and refuses to ambulate. There is no point tenderness, swelling or weakness of lower extremities. Sensation is intact. There is no spinal tenderness or bony deformity. He develops a petechial rash on the right forearm post tourniquet use for blood draw. 

Laboratory or Diagnostic imaging or Procedures : Lab work is significant for mild anemia (hemoglobin 9.7 g/dL), hyponatremia (sodium 133 mmol/L) and metabolic acidosis. ESR is elevated to 23 mm/h, with normal CRP. PTT is mildly elevated to 35.7, with normal PT/INR. Influenza and Lyme testing is negative. Left lower extremity X Ray shows transverse lucency in the left distal femoral metaphysis, but no fractures (Image 1). 

Final diagnosis: Further interview with parents revealed that the child had very restrictive eating habits, and did not consume any fruits, vegetables, or juice. Further lab work revealed Vitamin C <0.1mg/dl (0.2-2.3mg/dL), confirming the diagnosis of scurvy. 

Discussion: Differential diagnosis of limb pain in children is broad and includes infectious, neoplastic, traumatic, rheumatologic, and vascular causes. Our patient's initial presentation was suspicious for post infectious myositis and transient synovitis, however he did not improve with anti inflammatory medications as expected. There was low suspicion for infectious cause in absence of elevated inflammatory markers and leukocytosis. Acute trauma was ruled out with normal imaging studies. Hematologic and oncologic disorders were unlikely due to a lack of significant anomalies on CBC and largely normal imaging studies. Nutritional deficiencies were considered based on patient's restricted diet. 

Scurvy is the clinical syndrome of vitamin C deficiency and is uncommon in developed countries. Children with autism spectrum disorder and restrictive diets are at increased risk. Initial manifestations include irritability, anorexia and weight loss, which can progress to perifollicular haemorrhages, petechiae, ecchymoses and gingival bleeding. Subperiosteal and muscular hematomas, hemarthrosis, arthralgias and myalgias result in limp or refusal to walk, as in our patient. Diagnosis of scurvy is made by a history of deficient intake and is confirmed by low serum Vitamin C levels. Our patient was treated with Vitamin C, with complete resolution of symptoms. Our case highlights the importance of obtaining adequate dietary history and considering the diagnosis of nutritional deficiencies in otherwise apparently healthy children. 




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SUNY Upstate Medical University
SUNY Upstate Medical University
SUNY Upstate Medical University
SUNY Upstate Medical University

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