Non-axial osteoarticular tuberculosis in the paediatric age. / La tuberculosis osteoarticular no axial en la edad pediátrica.

INTRODUCTION AND OBJECTIVES: Osteoarticular tuberculosis, caused by a member of the Mycobacterium genus, represents approximately 10% of the total extrapulmonary tuberculosis in pediatric patients. Its low prevalence and nonspecific clinical presentation lead to a late diagnosis and elevated risk of sequelae. PATIENTS AND METHODS: This retrospective study included seven pediatric patients with non-vertebral osteoarticular tuberculosis diagnosed between 2006 and 2019. The patients were classified in accordance with the radiographic criteria of Kerri and Martini. RESULTS: The mean patient age was 7,4 years (median, 5 years; range, 2-16 years). The mean follow-up time was 18,5 months (range, 10-32 months). The mean diagnostic delay was 4,7 months (range, 1-8 months). The locations were femoral head osteoarthritis (two patients) and proximal humerus osteomyelitis, talus dome osteoarthritis, distal clavicle osteoarthritis, proximal ulna epiphysis osteoarthritis, and tibiotalar arthritis along with subtalar gland (one patient each). The clinical findings were lameness (four patients), localized pain (two patients), functional impotence, constitutional syndrome (asthenia, anorexia, and involuntary loss of>5% of total body weight) (two patients), local inflammatory signs (one patient), and fever (one patient). One patient was asymptomatic and received a diagnosis during pulmonary radiological analysis. Medical treatment with four drugs was performed in all patients; five patients required surgical treatment for abscess drainage, three of them open drainage, and two with laparoscopic drainage. CONCLUSIONS: The final results were satisfactory, such that 71% of patients recovered joint balance but with radiological sequelae in 57,1% patients. Good prognosis, according to our results, depends on younger age and early diagnosis with early medical or surgical treatments.

Chronic Recurrent Multifocal Osteomyelitis and Thalidomide in Chronic Granulomatous Disease.

Chronic granulomatous disease (CGD) is a primary immunodeficiency that leads to severe recurrent infection and inflammatory complications that are usually difficult to diagnose and treat. Several hyperinflammation mechanisms, such as decreased neutrophil apoptosis, toll-like receptor activation imbalance, Th17 cell induction, Nrf2 activity deficiency, and inflammasome activation, have been described in CGD patients However, there have been no reports of chronic recurrent multifocal osteomyelitis as an inflammatory complication in CGD, and the differential diagnosis of this condition with infectious osteomyelitis is challenging. Thalidomide has been used to treat several inflammatory manifestations in CGD patients with good clinical results. Here, we report the case of a previously asymptomatic 11-year-old boy who consulted for difficulty walking and pain at the back of the right thigh, with increased inflammatory markers. Multifocal bone involvement was seen on bone scintigraphy, and acute-phase reactants were elevated. On the basis of a suspected diagnosis of infectious osteomyelitis, broad-spectrum antibiotic therapy was started, with no clinical response. Bone biopsy and microbiological tests yielded negative results; at that point, chronic recurrent multifocal osteomyelitis was suspected. The patient was unresponsive to nonsteroidal antiinflammatory drugs and corticosteroids. Thalidomide was started, and within 6 months, clinical and radiologic resolution of the condition was achieved with no adverse effects. More than 1 year after stopping thalidomide, the patient remained free of symptoms and inflammatory parameters are within normal levels. Thalidomide has a favorable safety profile compared with other alternatives and could be considered a feasible therapeutic option for this type of condition in selected patients.

Tratamiento prenatal del mielomeningocele / Prenatal treatment of myelomeningocele

El mielomeningocele es la malformación congénita, dentro de los defectos del tubo neural, más grave compatible con la vida. El diagnóstico prenatal suele realizarse en la ecografía morfológica aunque recientemente se han descrito marcadores precoces de primer trimestre. En 2011 se publicó el estudio Management of Mielomeningocele Study (MOMS), estudio aleatorizado comparando los fetos operados prenatalmente con los operados postnatalmente. Los resultados mostraron la reducción de la necesidad de derivaciones ventrículo-peritoneales y una mejoría de la función motora con la intervención prenatal sin reportar una importante morbilidad materna. Desde hace años, en el Hospital Universitari Vall d’Hebron se está trabajando en experimentación animal, inicialmente mediante la creación de un modelo animal de mielomeningocele y posteriormente de diferentes técnicas de reparación. Esta investigación traslacional ha sido aplicada a la práctica clínica. Desde el año 2010 se ofrece un programa multidisciplinar de cirugía prenatal del mielomeningocele(AU)

Myelomeningocele is the most severe congenital malformation among neural tube defects that are compatible with life. Although prenatal diagnosis is usually performed with the 20-22nd week scan, early first trimester markers have been recently described. Management of Myelomeningocele Study (MOMS), a randomized study that compares the prenatally operated fetuses with those that were operated on post-natally, was published in 2011.The results showed a reduction in the need for peritoneal shunts and improved motor function with the prenatal intervention without reporting any significant maternal morbidity. The Hospital Universitari Vall d’Hebron has been working on animal experimentation for many years. Initially, they created an animal model of myelomeningocele, and later on developed several repair techniques. This translational research has been applied to clinical practice. Since 2010, we have offered a multidisciplinary program of prenatal myelomeningocele surgery(AU)