Daño hepático inducido por fármacos antituberculosos. ¿Qué debemos hacer en un caso pediátrico? / Antituberculous drug-induced liver injury. What we have to do with pediatric patients?

El daño hepático inducido por fármacos antituberculosos (DHIFAT) es el efecto secundario potencialmente grave más frecuentemente asociado a la toma de estos medicamentos. Los niños más pequeños, los que padecen formas extrapulmonares y los que reciben dosis altas de pirazinamida son los que presentan mayor riesgo de sufrir hepatotoxicidad con el tratamiento antituberculoso. En pediatría no existen consensos ni recomendaciones específicas de cómo manejar el DHIFAT. Presentamos el caso de una niña de 3 años diagnosticada de meningitis tuberculosa que sufrió DHIFAT y detallamos cómo se realizó el manejo de la situación, sin detrimento de completar la pauta terapéutica antituberculosa, tal como recomiendan los estándares de tratamiento. Tras una búsqueda y lectura de la literatura científica relacionada, hemos realizado la síntesis de los aspectos prácticos más relevantes para el manejo de estas situaciones inusuales para el pediatra general

Antituberculous drug-induced liver injury (ATDILI) is the most common and potentially serious adverse effect reported. Younger children, patients with extrapulmonary tuberculosis and children who are treated with high dosis of pyrazinamide are on serious risk for hepatotoxicity. There aren’t either consensus or specific recommendations about ATDILI in children. We report a case of tuberculous meningitis in a three year old girl who developed hepatotoxicity and provide some insight into its management. We performed a review of the published literature and made an update about management of ATDILI in paediatric patients

Linfangioma quístico de la pared torácica en pediatría y tratamiento esclerosante / Cystic lymphangioma of the chest wall in Pediatrics and sclerotherapy

La mayoría de los linfangiomas se diagnostican en la edad pediátrica. Se trata de lesiones de carácter benigno, y sólo su crecimiento y expansión local pueden originar problemas al comprimir estructuras vecinas. En los casos accesibles, como el que presentamos, una anamnesis y una exploración física adecuada debe llevarnos a la solicitud de la prueba diagnóstica más eficiente, la ecografía con punción de alguno de los quistes para el estudio directo del líquido intraquístico. El aspecto ecográfico de estas lesiones, junto con unas características típicas del líquido, bastará para efectuar un diagnóstico correcto en la mayoría de las ocasiones. La resección quirúrgica y la escleroterapia son opciones válidas de tratamiento, y entre ellas el OK-432 (Picibanil®) y las tetraciclinas son los agentes esclerosantes de los que se dispone de mayor experiencia, habiendo demostrado ser efectivos y seguros. Presentamos un caso de linfangioma quístico en la pared torácica tratado con el agente esclerosante OK-432, haciendo una revisión no sistemática de los aspectos diagnósticos y terapéuticos más relevantes (AU)

Most lymphangiomas are diagnosed in the three first years of age. They are benign congenital malformations. They can grow and spread to sorrounding organs and tissues. A well performed anamnesis and physical examination must lead us to think that the best diagnostic tool is ultrasound with needle aspiration of the liquid contained in any cyst. Ultrasound characteristics and the aspect of the liquid must be sufficient to reach proper diagnosis. Surgical excision or sclerotherapy are both appropriate procedures. Two sclerosant agents are widly used, OK-432 and tetracyclines (doxycycline), being both safe and effective. We report a case of cystic lymphangioma of the thoracic wall. Sclerotherapy with OK-432 was performed. We review the literature and assess some critical aspects about diagnosis and treatment of lymphangiomas (AU)

Analysis of Sturge-Weber syndrome: A retrospective study of multiple associated variables. / Análisis del síndrome de Sturge-Weber: estudio retrospectivo de múltiples variables asociadas.

INTRODUCTION: Sturge-Weber syndrome is a congenital vascular disorder characterised by facial capillary malformation (port-wine stain) associated with venous and capillary malformations in the brain and eye. Neurological symptoms and alterations in other locations may also be observed. OBJECTIVES: This study describes the clinical and epidemiological characteristics and different treatments in a cohort of patients diagnosed with Sturge-Weber syndrome in a tertiary hospital. MATERIAL AND METHODS: This comparative, retrospective and cross-sectional study was conducted by reviewing the medical records of patients diagnosed with Sturge-Weber syndrome between 1998 and 2013. RESULTS: The study included 13 patients (54% male, 46% female) diagnosed with Sturge-Weber syndrome. The mean age at diagnosis was 15 months. Leptomeningeal angiomatosis was present in 100% of cases: right hemisphere (46%), left hemisphere (38%), and bilateral (15%). Facial angioma was present in 61% of the cases: right (23%), left (38%) and bilateral (7%). Other skin disorders were found in 23% of the cases, including 2 with hemilateral involvement on the side where facial and leptomeningeal angiomatosis was present and one case of generalised cutis marmorata. Ocular disease was found in 77% of patients; the most common conditions were glaucoma (46%), strabismus (23%) and choroidal angioma (23%). Epilepsy was present in 100% of the cases, with partial seizures (simple or complex) being the most frequent (62%). Seizure control was highly variable; 31% of the patients had needed to try more than 3 drugs, 15% 3 drugs, and 31% 2 drugs, while 23% experienced good seizure control with monotherapy. One patient required surgery for epilepsy (left hemispherectomy) and has been seizure-free since then. The most frequent observations in electroencephalograms were spikes, polyspikes, and wave spikes in the lobes affected by leptomeningeal angiomatosis (46%). Other neurological symptoms were hemiparesis (39%), recurrent headaches (39%), stroke-like episodes (23%), psychomotor retardation (46%), and mental retardation (46%). Leptomeningeal calcifications could be seen in 85% of patient MRIs, as well as increased calcification in 70%; 54% of the patients had been treated with aspirin. CONCLUSIONS: There are multiple clinical manifestations of Sturge-Weber syndrome. Being familiar with all of them is vitally important for diagnosing and for monitoring and treating the condition correctly, which will improve the quality of life of these patients.

Fístula arteriovenosa vertebral. Diagnóstico por auscultación / A vertebral arteriovenous fistula diagnosed by auscultation

Las fístulas arteriovenosas (FAV) vertebrales son lesiones raras. La etiología de las FAV vertebrales puede ser traumática o espontánea. Suelen cursar de forma asintomática o refiriendo «ruidos», o palpándose una vibración en la región cervical. El diagnóstico definitivo serealiza mediante arteriografía, siendo la embolización de la fístula el tratamiento de elección. Comentamos el caso de un varón de 2 años en el que la madre aprecia«como una lavadora en la cabeza». Al explorarle se palpa una vibración y se ausculta un soplo continuo en la región cervical izquierda, siendo el resto normal. Con la sospecha clínica de malformación vascular en la región vertebral se solicita una angio-RNM y una posterior arteriografía que confirma el diagnóstico. Las FAV son raras en la infancia. Es necesario sospecharlas ante la presencia de ruidos, palpación o vibración continua en la región cervical. El diagnóstico precoz puede evitar complicaciones

Cervical artery fistulas are rare arteriovenous malformations. The etiology of the vertebral arteriovenous fistulas (AVF) can be traumatic or spontaneous. They tend to be asymptomatic or palpation or continuous vibration in the cervical region. An arteriography is necessary for a definitive diagnosis. The treatment is complete embolization of the fistula. We present the case of a two year-old male, where the mother described it «like a washing machine in his head». On palpation during the physical examination, there was a continuous vibration, and a continuous murmur in left cervical region. A vascular malformation in vertebral region was clinically suspected, and confirmed with angio-MRI and arteriography AVF are rare in childhood. They should be suspected in the presence of noises, palpation or continuous vibration in the cervical region. Early diagnosis can prevent severe complications in asymptomatic children

Fístula arteriovenosa vertebral. Diagnóstico por auscultación / A vertebral arteriovenous fistula diagnosed by auscultation

Las fístulas arteriovenosas (FAV) vertebrales son lesiones raras. La etiología de las FAV vertebrales puede ser traumática o espontánea. Suelen cursar de forma asintomática o refiriendo «ruidos», o palpándose una vibración en la región cervical. El diagnóstico definitivo se realiza mediante arteriografía, siendo la embolización de la fístula el tratamiento de elección. Comentamos el caso de un varón de 2 años en el que la madre aprecia «como una lavadora en la cabeza». Al explorarle se palpa una vibración y se ausculta un soplo continuo en la región cervical izquierda, siendo el resto normal. Con la sospecha clínica de malformación vascular en la región vertebral se solicita una angio-RNM y una posterior arteriografía que confirma el diagnóstico. Las FAV son raras en la infancia. Es necesario sospecharlas ante la presencia de ruidos, palpación o vibración continua en la región cervical. El diagnóstico precoz puede evitar complicaciones

Cervical artery fistulas are rare arteriovenous malformations. The etiology of the vertebral arteriovenous fistulas (AVF) can be traumatic or spontaneous. They tend to be asymptomatic or palpation or continuous vibration in the cervical region. An arteriography is necessary for a definitive diagnosis. The treatment is complete embolization of the fistula. We present the case of a two year-old male, where the mother described it «like a washing machine in his head». On palpation during the physical examination, there was a continuous vibration, and a continuous murmur in left cervical region. A vascular malformation in vertebral region was clinically suspected, and confirmed with angio-MRI and arteriography. AVF are rare in childhood. They should be suspected in the presence of noises, palpation or continuous vibration in the cervical region. Early diagnosis can prevent severe complications in asymptomatic children

[A vertebral arteriovenous fistula diagnosed by auscultation]. / Fístula arteriovenosa vertebral. Diagnóstico por auscultación.

Cervical artery fistulas are rare arteriovenous malformations. The etiology of the vertebral arteriovenous fistulas (AVF) can be traumatic or spontaneous. They tend to be asymptomatic or palpation or continuous vibration in the cervical region. An arteriography is necessary for a definitive diagnosis. The treatment is complete embolization of the fistula. We present the case of a two year-old male, where the mother described it «like a washing machine in his head¼. On palpation during the physical examination, there was a continuous vibration, and a continuous murmur in left cervical region. A vascular malformation in vertebral region was clinically suspected, and confirmed with angio-MRI and arteriography. AVF are rare in childhood. They should be suspected in the presence of noises, palpation or continuous vibration in the cervical region. Early diagnosis can prevent severe complications in asymptomatic children.

Prevalence of sleep disorders in patients with neurofibromatosis type 1.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is frequently associated with neurological disorders unrelated to neurofibromas, including sleep disorders. OBJECTIVES: This article reviews the prevalence of sleep disorders in patients with NF1, compares rates to data reported in the literature, and analyses the relationship between cognitive disorder and attention deficit hyperactivity disorder (ADHD) in these patients. MATERIAL AND METHODS: Comparative retrospective study reviewing data collected between January 2010 and January 2012 from patients diagnosed with NF1 in a tertiary hospital. RESULTS: We included 95 paediatric patients with NF1 who completed the Bruni Sleep Disturbance Scale in Children. The overall prevalence of sleep disorders was 6.3%, which was lower than in the general paediatric population. Patients with NF1 and ADHD had a higher prevalence of sleep onset and maintenance disorders (18% vs 6.3%), sleep-wake transition disorders (12.5% vs 6.3%), and daytime sleepiness (12.5% vs 7.9%); differences were not statistically significant. A statistically significant difference was found in the subdomain of nocturnal hyperhidrosis (21.9% vs 6.3%, P < 0.05). Patients with NF1 and IQ<85 showed higher prevalence rates of daytime sleepiness (20% vs 6.7%) and of sleep hyperhidrosis (11% vs 0%). CONCLUSIONS: The prevalence of sleep disorders in our cohort of patients with NF1 was no higher than in the general paediatric population, although some of these disorders are more common in cases with cognitive disorders or ADHD.

Manifestaciones neurológicas de la invaginación intestinal / Neurological symptoms in children with intussusception

INTRODUCCIÓN: La invaginación intestinal es una enfermedad obstructiva potencialmente grave que se produce cuando un segmento del intestino se introduce en el interior de otro segmento intestinal distal vecino. La tríada clásica de vómitos, dolor abdominal y hematoquecia aparece en menos de un 25% de los casos. Existen formas de presentación atípica, con clínica sistémica y/o neurológica predominante. La alteración brusca de la consciencia puede ser el único signo clínico en lactantes. OBJETIVOS: Conocer la frecuencia y la naturaleza de las manifestaciones neurológicas de la invaginación intestinal y describir las características específicas de este subgrupo de pacientes. PACIENTES Y MÉTODOS: Revisión retrospectiva de las historias clínicas de 351 niños diagnosticados de invaginación intestinal entre los años 2000 y 2012. En todos los pacientes analizamos: datos epidemiológicos generales, sintomatología digestiva y neurológica, duración del cuadro clínico y eficacia del tratamiento. RESULTADOS: En 15 de los 351 pacientes totales (4,27%) se recogieron distintos síntomas y signos neurológicos, destacando la letargia (66,66%), seguida por los episodios paroxísticos, hipotonía global, debilidad aguda y fluctuación del nivel de consciencia. Un 60% de estos pacientes tenían solo clínica neurológica y un 73,3% de ellos necesitaron cirugía. CONCLUSIONES: Se debe considerar la invaginación intestinal en el diagnóstico diferencial de los lactantes y niños pequeños que acuden al Servicio de Urgencias con cuadros de letargia, hipotonía, debilidad aguda, alteración brusca del nivel de conciencia y/o episodios paroxísticos, aunque no exista ninguno de los signos clásicos de presentación de la enfermedad. Un diagnóstico precoz en estos casos puede evitar el desarrollo de complicaciones vasculares intestinales irreversibles

INTRODUCTION: Intussusception is a potentially severe obstructive disease that occurs when amore proximal portion of bowel invaginates into a more distal part of the bowel. Patients with intussusception often present with a wide range of non-specific systemic symptoms, with less than one quarter presenting with the classic triad of vomiting, abdominal pain, and bloody stools. An acute change in level of consciousness could be the only clinical symptom of this disorder. OBJECTIVES: To ascertain the frequency and nature of the neurological symptoms in children with intussusception, and to describe the characteristics of the patients presenting in this atypical way. PATIENTS AND METHODS: We retrospectively reviewed the records of 351 children presenting with intussusception from 2000 to 2012. General epidemiological data, abdominal and neurological signs and symptoms, duration of symptoms and effectiveness of treatment, were analysed in all patients. RESULTS: Of the 351 patients studied, 15 (4.27%) had one or more neurological symptoms recorded at presentation, with lethargy being the most frequent (66.66%), followed by hypotonia, generalized weakness, paroxysmal events, and fluctuating consciousness. Sixty per cent of these fifteen patients showed isolated neurological symptomatology, and eleven of them (73.3%) needed a laparotomy to reduce the intussusception. CONCLUSIONS: Intussusception should be considered in the differential diagnosis in infants and young children presenting as a pediatric emergency with lethargy, hypotonia, generalized weakness, paroxysmal events and/or sudden changes in consciousness, even in the absence of the classical symptoms of intussusception. An early recognition of intussusception may improve the global prognosis and avoid ischaemic intestinal sequelae

[Neurological symptoms in children with intussusception]. / Manifestaciones neurológicas de la invaginación intestinal.

INTRODUCTION: Intussusception is a potentially severe obstructive disease that occurs when a more proximal portion of bowel invaginates into a more distal part of the bowel. Patients with intussusception often present with a wide range of non-specific systemic symptoms, with less than one quarter presenting with the classic triad of vomiting, abdominal pain, and bloody stools. An acute change in level of consciousness could be the only clinical symptom of this disorder. OBJECTIVES: To ascertain the frequency and nature of the neurological symptoms in children with intussusception, and to describe the characteristics of the patients presenting in this atypical way. PATIENTS AND METHODS: We retrospectively reviewed the records of 351 children presenting with intussusception from 2000 to 2012. General epidemiological data, abdominal and neurological signs and symptoms, duration of symptoms and effectiveness of treatment, were analysed in all patients. RESULTS: Of the 351 patients studied, 15 (4.27%) had one or more neurological symptoms recorded at presentation, with lethargy being the most frequent (66.66%), followed by hypotonia, generalized weakness, paroxysmal events, and fluctuating consciousness. Sixty per cent of these fifteen patients showed isolated neurological symptomatology, and eleven of them (73.3%) needed a laparotomy to reduce the intussusception. CONCLUSIONS: Intussusception should be considered in the differential diagnosis in infants and young children presenting as a pediatric emergency with lethargy, hypotonia, generalized weakness, paroxysmal events and/or sudden changes in consciousness, even in the absence of the classical symptoms of intussusception. An early recognition of intussusception may improve the global prognosis and avoid ischaemic intestinal sequelae.