Developmental dysplasia of the hip: real world data from a retrospective analysis to evaluate the effectiveness of universal screening.

AIMS: Developmental dysplasia of the hip is an important cause of disability in children and young adult and it also has a significant socio-economic impact in our society. The main objective of our study is to evaluate, in our hospital, the effectiveness of a universal ultrasound screening protocol and to assess the general knowledge about the theme of pediatricians and neonatologists. METHODS: Retrospective study of infants born from January 2016 to April 2019, evaluated with hip ultrasound (Graf method). Risk factors assessed were female gender, breech presentation at birth, positive family history and twin birth. For the secondary objective, an anonymous and validated questionnaire was distributed to all pediatricians and neonatologists. RESULTS: Among the 4000 hips analyzed, on ultrasound examination, 98.8% hips resulted mature or immature but appropriate for age, while 1,2% hips were pathological. Analyzing the mature or immature hips, 2,4% were positive on clinical examination and 97,6% were negative. In relation to ultrasound pathological hips, 33,3% have positive clinical examination, while 66,7% negative. From the analysis of risk factors a significant association emerged between female sex, breech presentation and family history with the ultrasound pathological findings. The results of Survey showed that inadequate training about developmental dysplasia of the hip is done during medical school. CONCLUSIONS: A universal ultrasound screening allowed us to identify developmental dysplasia of the hip in a number of children with normal clinical examination and no risk factors. Specific training courses should be implemented regarding Developmental Dysplasia of the Hip for neonatologists and pediatricians.

Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade.

Chronic infantile neurological cutaneous articular (CINCA) syndrome is a rare autoinflammatory disorder driven by uncontrolled hypersecretion of interleukin (IL)-1, which can be clinically depicted by striking cutaneous, neurologic, and skeletal features. Little is known about the exact pathogenesis of CINCA bone disease, which mainly involves the knees. We report a 20-year-old CINCA patient, who was consecutively treated firstly with anakinra, started at 7 years, then with full dose canakinumab, started at 17 years, focusing on the typical bone abnormalities of the syndrome: the comparison of radiographs of knees performed at 7 and 20 years has shown the disappearance of a typical metaphyseal dysplasia occurring in the femurs of this CINCA patient, regularly treated with IL-1 blockade for a period of 13 years. A review of the medical literature reveals poor information on the skeletal response of CINCA syndrome to IL-1-inhibiting therapies. This contribution confirms the protean striking effects of IL-1 blockade in this peculiar autoinflammatory disorder, showing for the first time the reversal of the characteristic CINCA metaphyseal dysplasia over long-term treatment.

Long-term response after 6-year treatment with anakinra and onset of focal bone erosion in neonatal-onset multisystem inflammatory disease (NOMID/CINCA).

The exact elucidation of skeletal and cartilagineous involvement in neonatal-onset multisystem inflammatory disease (NOMID) is still poorly known, and there are few data providing the long-term response to treatment with the available interleukin-1 inhibitors. We present here a 13-year-old boy with NOMID treated with anakinra and low-dose methylprednisolone since he was 7 years old for an overall period of 6 years. Every clinical manifestation was highly responsive to interleukin-1 blockade, with the exception of his bone abnormalities. At the comparison of radiography and magnetic resonance imaging of his knees made respectively at 7 and 13 years, we noticed a bone erosion on the posterior surface of the patella combined with the progression of distal femoral overgrowth and endosteal thinning of both meta-epiphyses. This report must encourage clinicians in a precocious institution of interleukin-1 antagonists to thwart the occurrence of irreversible bone changes.

Exercise-induced rhabdomyolysis and transient loss of deambulation as outset of partial carnitine palmityl transferase II deficiency.

We report the case of a 13-year-old boy with an abrupt onset of leg pain and muscle weakness, incapability of deambulation and a laboratory picture of exercise-induced acute rhabdomyolysis. Intravenous hyperhydration and forced diuresis were adopted to avoid renal complications. No evidence of articular or residual muscular damage was appreciated in the short-term. The recurrence of rhabdomyolysis required a muscular biopsy showing a disturbance of fatty acid ß-oxidation pathway.