Primer brote documentado de artritis séptica por Kingella kingae en una guardería de España / First documented outbreak of arthritis caused by Kingella kingae in a Spanish childcare center

IntroducciónRecientemente, Kingella kingae (K. kingae) se ha descrito como el principal agente causal de infecciones osteoarticulares entre los 6 meses y 2 años de vida. Más excepcional es su presentación en forma de clúster de infección invasiva por K. kingae. Se describe la investigación del primer brote de 3casos de artritis séptica causada por K. kingae documentado en España en una guardería de Roses, Girona.Pacientes y métodosEn diciembre del 2015, se realizó frotis faríngeo a todos los niños de la misma clase de la guardería. La muestra estaba compuesta por 9 lactantes (rango de edad: 16-23 meses), que incluía los 3casos índice. El estudio microbiológico se realizó mediante cultivo y RT-PCR específicos a K. kingae. Se administró amoxicilina y rifampicina profilácticas a todos los que presentaron colonización por K. kingae. Después de finalizar la profilaxis, se tomó un nuevo frotis faríngeo para confirmar la erradicación.ResultadosSe detectó K. kingae por RT-PCR en los 3casos índices y 5/6 compañeros de clase. Los cultivos fueron negativos en todos los casos. Después de recibir profilaxis, 3lactantes aún presentaban positividad a K. kingae en RT-PCR.ConclusionesK. kingae puede causar brotes de enfermedad invasiva en comunidades cerradas. Para una adecuada investigación, se requiere un mayor conocimiento de su existencia, así como una mejoría de la sensibilidad de las pruebas diagnósticas. En nuestra experiencia, la administración de profilaxis antibiótica puede erradicar parcialmente la colonización orofaríngea por K. kingae. Después de la profilaxis no se detectaron nuevos casos.

BackgroundRecently, Kingella kingae (K. kingae) has been described as the most common agent of skeletal system infections in children 6 months-2 years of age. More exceptional is the clinical presentation in clusters of invasive K. kingae infections. We describe the investigation of the first outbreak of 3cases of arthritis caused by K. kingae documented in Spain detected in a daycare center in Roses, Girona.Patients and methodsIn December of 2015 surveillance throat swabs obtained from all attendees from the same class of the index daycare center were assessed to study the prevalence of K. kingae colonization. The sample was composed of 9 toddlers (range: 16-23 months of age). Investigation was performed by culture and K. kingae-specific RT-PCR. Combined amoxicillin-rifampicin prophylaxis was offered to all attendees who were colonized by K. kingae. Following antimicrobial prophylaxis, a new throat swab was taken to confirm bacterial eradication.ResultsK. kingae was detected by RT-PCR throat swabs in the 3index cases and 5of the 6daycare attendees. Cultures were negative in all cases. After administration of prophylactic antibiotics, 3toddlers were still positive for K. kingae-specific RT-PCR.ConclusionsClusters of invasive K. kingae infections can occur in daycare facilities and closed communities. Increased awareness and use of sensitive detection methods are needed to identify and adequately investigate outbreaks of K. kingae disease. In our experience, the administration of prophylactic antibiotics could result in partial eradication of colonization. No further cases of disease were detected after prophylaxis.

First documented outbreak of arthritis caused by Kingella kingae in a Spanish childcare center.

BACKGROUND: Recently, Kingella kingae (K. kingae) has been described as the most common agent of skeletal system infections in children 6 months-2 years of age. More exceptional is the clinical presentation in clusters of invasive K. kingae infections. We describe the investigation of the first outbreak of 3 cases of arthritis caused by K. kingae documented in Spain detected in a daycare center in Roses, Girona. PATIENTS AND METHODS: In December of 2015 surveillance throat swabs obtained from all attendees from the same class of the index daycare center were assessed to study the prevalence of K. kingae colonization. The sample was composed of 9 toddlers (range: 16-23 months of age). Investigation was performed by culture and K. kingae-specific RT-PCR. Combined amoxicillin-rifampicin prophylaxis was offered to all attendees who were colonized by K. kingae. Following antimicrobial prophylaxis, a new throat swab was taken to confirm bacterial eradication. RESULTS: K. kingae was detected by RT-PCR throat swabs in the 3 index cases and 5 of the 6 daycare attendees. Cultures were negative in all cases. After administration of prophylactic antibiotics, 3 toddlers were still positive for K. kingae-specific RT-PCR. CONCLUSIONS: Clusters of invasive K. kingae infections can occur in daycare facilities and closed communities. Increased awareness and use of sensitive detection methods are needed to identify and adequately investigate outbreaks of K. kingae disease. In our experience, the administration of prophylactic antibiotics could result in partial eradication of colonization. No further cases of disease were detected after prophylaxis.

First documented outbreak of arthritis caused by Kingella kingae in a Spanish childcare center. / Primer brote documentado de artritis séptica por Kingella kingae en una guardería de España.

BACKGROUND: Recently, Kingella kingae (K. kingae) has been described as the most common agent of skeletal system infections in children 6 months-2 years of age. More exceptional is the clinical presentation in clusters of invasive K. kingae infections. We describe the investigation of the first outbreak of 3cases of arthritis caused by K. kingae documented in Spain detected in a daycare center in Roses, Girona. PATIENTS AND METHODS: In December of 2015 surveillance throat swabs obtained from all attendees from the same class of the index daycare center were assessed to study the prevalence of K. kingae colonization. The sample was composed of 9 toddlers (range: 16-23 months of age). Investigation was performed by culture and K. kingae-specific RT-PCR. Combined amoxicillin-rifampicin prophylaxis was offered to all attendees who were colonized by K. kingae. Following antimicrobial prophylaxis, a new throat swab was taken to confirm bacterial eradication. RESULTS: K. kingae was detected by RT-PCR throat swabs in the 3index cases and 5of the 6daycare attendees. Cultures were negative in all cases. After administration of prophylactic antibiotics, 3toddlers were still positive for K. kingae-specific RT-PCR. CONCLUSIONS: Clusters of invasive K. kingae infections can occur in daycare facilities and closed communities. Increased awareness and use of sensitive detection methods are needed to identify and adequately investigate outbreaks of K. kingae disease. In our experience, the administration of prophylactic antibiotics could result in partial eradication of colonization. No further cases of disease were detected after prophylaxis.

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.

GLYT1 encephalopathy is a form of glycine encephalopathy caused by disturbance of glycine transport. The phenotypic spectrum of the disease has not yet been completely described, as only four unrelated families with the disorder have been reported to date. Common features of affected patients include neonatal hypotonia, respiratory failure, encephalopathy, myoclonic jerks, dysmorphic features, and musculoeskeletal anomalies. All reported affected patients harbor biallelic genetic variants in SLC6A9. SNP array together with Sanger sequencing were performed in a newborn with arthrogryposis and severe neurological impairment. The novel genetic variant c.997delC in SLC6A9 was detected in homozygous state in the patient. At protein level, the predicted change is p.(Arg333Alafs*3), which most probably results in a loss of protein function. The variant cosegregated with the disease in the family. A subsequent pregnancy with ultrasound anomalies was also affected. The proband presented the core phenotypic features of GLYT1 encephalopathy, but also a burst suppression pattern on the electroencephalogram, a clinical feature not previously associated with the disorder. Our results suggest that the appearance of this pattern correlates with higher cerebrospinal fluid glycine levels and cerebrospinal fluid/plasma glycine ratios. A detailed discussion on the possible pathophysiological mechanisms of the disorder is also provided.

Pel·lagra en una adolescent afectada d'anorèxia nerviosa / Pelagra en una adolescente afecta de anorexia nerviosa / Pellagra in an adolescent with anorexia nerviosa

Introducció: la pel•lagra, o malaltia de les 3D (dermatitis, diarrea, demència), es produeix per un dèficit de niacina (vitamina B3). És freqüent en països subdesenvolupats amb elevada prevalença de desnutrició, però és infreqüent en països desenvolupats, i en aquests afecta pacients amb malalties de base, fonamentalment alcohòlics amb desnutrició. Cas clínic: adolescent de 13 anys afectada d'anorèxia ner-viosa molt restrictiva que presentava una dermatitis fotosensible a la zona de l'escot (collar de Casal), produïda per un dèficit greu de niacina. Comentaris: hi ha pocs casos descrits de pel•lagra en relació amb trastorns de la conducta alimentària (anorèxia ner-viosa) i no s'ha trobat publicat cap cas en l'edat pediàtrica per aquest motiu. És interessant la presentació del cas, ja que pot tenir un desenllaç mortal si no rep tractament amb niacina

Introducción. La pelagra, o enfermedad de las 3D (dermatitis, diarrea, demencia), se produce por un déficit de niacina (vitamina B3). Es frecuente en países subdesarrollados con altas tasas de malnutrición, pero es infrecuente en países desarrollados, y en estos afecta a pacientes con patología de base, fundamentalmente a alcohólicos con malnutrición. Caso clínico. Adolescente de 13 años afecta de anorexia nerviosa muy restrictiva que presentaba una dermatitis fotosensible a nivel del escote (collar de Casal), producida por déficit grave de niacina. Comentarios. Se han descrito pocos casos de pelagra en relación con trastornos de conducta alimentaria (anorexia nerviosa) y no se ha encontrado publicado ningún caso en la edad pediátrica por dicho motivo. Es interesante la presentación del caso, que puede tener un desenlace mortal de no recibir tratamiento con niacina (AU)

Introduction. Pellagra, also known as the 3D disease, presents with diarrhea, dermatitis and dementia, and it is due to a deficit of niacin (vitamin B3). It is frequently seen in underdeveloped countries with high malnutrition rates, and it commonly affects people with chronic diseases, usually malnourished alcoholics. Case report. We describe the case of a 13 years old adolescent female with very restrictive anorexia nervosa who presented with a photosensitive dermatitis in the neck area (Casal necklace) due to a very severe niacin deficit. Comments. Reports of pellagra due to an eating disorder such anorexia nervosa are very rare in the literature, with no pediatric cases reported. If undiagnosed and treated, this disease can have a fatal outcome (AU)