Unilateral genu valgum associated to vitamin D deficiency: A multidisciplinary approach in a patient followed from 3 to 21 years - A case report.

INTRODUCTION: Lower limb postural deformities are usually bilateral and in the majority of cases tend to spontaneous correction without any treatment. On the contrary, unilateral genu valgum is a rare deformity in children, it is frequently associated with systemic pathological conditions and require a specific treatment. PRESENTATION OF CASE: A three-year-old child affected by severe unilateral left genu valgum was followed by a multidisciplinary team. The initial treatment was medical, based on 10,000 IU of cholecalciferol every 2 months without any improvement after 6 months. Therefore, the patient was surgically treated by hemiepiphysiodesis of distal femur and proximal tibia with eight-plate obtaining a complete correction of the deformity in 10 months. Medical treatment continued for 4 years since the diagnosis. At follow-up, 18 years later, an excellent clinical result was observed. DISCUSSION: The association between unilateral genu valgum and vitamin D deficiency is extremely rare. In case of unilateral limb deformity, it is essential to investigate the aetiology to obtain a correct diagnosis and perform a specific multidisciplinary treatment. The goal of the management is to correct the deformity and avoid any recurrence. CONCLUSIONS: We believe that in unilateral genu valgum is always necessary a correct multidisciplinary diagnosis and treatment. The peculiarity of our case is the long-term follow-up and the absence of recurrence despite early surgical treatment. Further studies are necessary to better define the correlation between unilateral axial deformity and vitamin D deficiency.

Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa.

Bone status impairment represents a complication of generalized forms of epidermolysis bullosa (EB); however, the prevalence and the main determinants of this event in localized forms remain poorly defined. Birmingham epidermolysis bullosa severity (BEBS) score and 25-hydroxyvitamin D levels are strongly associated with low bone mass, suggesting that vitamin D may play a potential beneficial role in bone health. Further longitudinal studies are needed in order to confirm this hypothesis. INTRODUCTION: Bone status impairment represents a complication of generalized forms of EB; thus, we aimed to estimate the prevalence of low bone mass, to examine mineralization differences in various EB subtypes and to identify the most important determinants of bone impairment in children with either generalized or localized EB. METHODS: An observational study of 20 children (11 males; mean age ± standard deviation, 11.7 ± 3.9 years) with EB was performed. Clinical history, physical examination, laboratory studies, X-ray of the left hand and wrist for bone age, and dual energy X-ray absorptiometry scans of the lumbar spine were obtained. Areal bone mineral density (aBMD Z-scores) and bone mineral apparent density were related to the BEBS score. RESULTS: Areal BMD Z-score (mean -1.82 ± 2.33, range, -7.6-1.7) was reduced (<-2 SD) in 8 patients (40%), whereas aBMD Z-score adjusted for bone age was low in 7 patients (35%). BEBS score and 25-hydroxyvitamin D serum levels were the most important elements associated with aBMD (P = 0.0001 and P = 0.016, respectively). A significant correlation between the aBMD Z-score and area of skin damage, insulin-like growth factor-1, C-reactive protein, and sodium serum levels was also found. CONCLUSIONS: Low aBMD can be considered a systemic complication of EB, primarily associated with BEBS score and 25-hydroxyvitamin D levels. Therefore, longitudinal evaluation of bone status is ongoing in these patients to define whether vitamin D supplementation would prevent, or at least reduce, bone status impairment.

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.

The results of a medium-chain triglyceride loading test in a patient with severe carnitine-acylcarnitine translocase deficiency clearly demonstrated impaired in vivo utilization of medium-chain triglycerides. The loading test was performed at the ages of 7 and 36 months. The diet was adjusted accordingly. The clinical course has been favourable and the child is now in very good condition at age 4 years. We conclude that the utilization of medium-chain triglycerides is only partial in carnitine-acylcarnitine translocase deficiency and cannot reasonably be considered an optimal source of energy for these patients. Careful adjustment of dietetic treatment may help to improve prognosis.