The Ponseti Method for the Treatment of Clubfeet Associated With Down Syndrome: A Single-institution 18-year Experience.

BACKGROUND: Although the Ponseti method has been used with great success in a variety of nonidiopathic clubfoot deformities, the efficacy of this treatment in clubfeet associated with Down syndrome remains unreported. The purpose of this study is, therefore, to compare treatment characteristics and outcomes of clubfoot patients with Down syndrome to those with idiopathic clubfoot treated with the Ponseti method. METHODS: An Institutional Review Board-approved, retrospective review of prospectively gathered data were performed at a single pediatric hospital over an 18-year period. Patients with either idiopathic clubfeet or clubfeet associated with Down syndrome who were less than 1 year of age at the outset of treatment were treated by the Ponseti method, and had a minimum of 2 year's follow-up were included. Initial Dimeglio score, number of casts, need for heel cord tenotomy, recurrence, and need for further surgery were recorded. Outcomes were classified using the Richards classification system: "good" (plantigrade foot +/- heel cord tenotomy), "fair" (need for a limited procedure), or "poor" (need for a full posteromedial release). RESULTS: Twenty clubfeet in 13 patients with Down syndrome and 320 idiopathic clubfeet in 215 patients were identified. Average follow-up was 73 months for the Down syndrome cohort and 62 months for the idiopathic cohort. Down syndrome patients presented for treatment at a significantly older age (61 vs. 16 d, P =0.00) and with significantly lower average initial Dimeglio scores than the idiopathic cohort (11.3 vs. 13.4, P =0.02). Heel cord tenotomy was performed in 80% of the Down syndrome cohort and 79% of the idiopathic cohort ( P =1.00). Recurrence rates were higher in the Down syndrome cohort (60%) compared with the idiopathic group (37%), but this difference was not statistically significant ( P =0.06). Need for later surgical procedures was similar between the 2 cohorts, though recurrences in the Down syndrome group were significantly less likely to require intra-articular surgery (8.3% vs. 65.5%, P =0.00). Clinical outcomes were 95% "good," 0% "fair," and 5% "poor" in the Down syndrome cohort and 69% "good," 27% "fair," and 4% "poor" in the idiopathic cohort ( P =0.01). CONCLUSIONS: Despite the milder deformity and an older age at presentation, clubfeet associated with Down syndrome have similar rates of recurrence and may have better clinical outcomes when compared with their idiopathic counterparts. When deformities do relapse in Down syndrome patients, significantly less intra-articular surgery is required than for idiopathic clubfeet. LEVEL OF EVIDENCE: Level III.

Scurvy in a 29-Month-Old Patient Presenting With a Gower Sign.

Scurvy is a preventable condition caused by a severe vitamin C deficiency for prolonged periods. Most literature cases describe children with neurobehavioral disorders or extreme dietary restrictions. Vitamin C deficiency may be a rare clinical presentation in the developed world; hence, it is often overlooked and can lead to extensive workups when the history alone could have raised suspicion for the diagnosis. We report a previously healthy 29-month-old boy initially admitted to the hospital due to loss of ambulation over a three-week course. The patient had no history of fever, and the inflammatory parameters were normal. Blood workup, plain radiographs, and magnetic resonance imaging (MRI) of the right lower extremity were unremarkable. The patient was discharged home with antibiotics and anti-inflammatory medication but arrived a week later with worsening lower extremity weakness leading to complete loss of ambulation. Vitamin C deficiency was confirmed to be below normal levels (<0.4mg/dL), and a diagnosis of scurvy was confirmed and treated with oral ascorbic acid. Subsequently, his mother brought him to the orthopedic clinic with a positive Gower sign. CPK levels were normal. Within a month of ascorbic acid replacement, all symptoms disappeared. Our patient was a picky eater, which emphasizes the importance of early dietary screening to discover the underlying cause of symptoms. Vitamin C deficiency should be part of the differential diagnosis in patients with unremarkable laboratory workup for infection and other diseases presenting with a Gower sign.