Fenotipo en pacientes con discapacidad intelectual y array-CGH patológico / Phenotype in patients with intellectual disability and pathological results in array CGH

Introducción: El retraso global del desarrollo (RGD) y la discapacidad intelectual (DI) son un motivo de consulta frecuente en la consulta de Neuropediatría. Actualmente, la hibridación genómica comparada constituye una de las principales técnicas aplicadas al diagnóstico de esta patología. Resulta útil determinar qué características fenotípicas se asocian a obtener un resultado etiológico en el test genético. Métodos: Se llevó a cabo un estudio ciego pormenorizado de las características clínicas, antropométricas y morfológicas de 80 individuos afectos de DI no explicada y se analizó cuales estaban asociadas a obtener un resultado etiológico en el array-CGH. Resultados: El resultado del array fue patológico en un 27,5% de los casos. Los factores que se asociaron estadísticamente a tener una prueba de array-CGH patológica fueron los antecedentes familiares de DI/RGD (OR: 12,1), la presencia de malformaciones congénitas (OR: 5,33), más de 3 rasgos dismórficos faciales (OR: 20,9) y la hipotonía periférica (OR: 3,25). Conclusiones: Nuestros hallazgos coinciden con otras series publicadas. Por lo tanto, asumimos que la probabilidad de encontrar variación en el número de copias de significado patológico mediante array-CGH aumenta si alguna de las características anteriores está presentes en individuos afectos de DI/RGD (AU)

Introduction: Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with pathological results in this genetic test. Methods: We conducted a blind study of the epidemiological, clinical, anthropometric, and morphological features of 80 patients with unexplained ID to determine which features were associated with pathological results in array-CGH. Results: Pathological results were found in 27.5% of the patients. Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25). Conclusions: Our findings are consistent with those reported by other published series. We therefore conclude that the probability of having pathological results in array-CGH increases with the presence of any of the features mentioned above in patients with ID/GDD (AU)

Estudio descriptivo de las epilepsias sintomáticas según edad de inicio controladas durante 3 años en una Unidad de Neuropediatría de referencia regional / Descriptive study of symptomatic epilepsy by age of onset in patients with a 3-year follow-up at the Neuropaediatric Department of a reference centre

Objetivo: Estudio descriptivo de epilepsias sintomáticas, según edad de inicio, controladas en una Unidad de Neuropediatría de referencia regional durante 3 años. Pacientes y métodos: Niños con diagnóstico de epilepsia sintomática, controlados del 1 de enero del 2008 hasta el 31 de diciembre del 2010. Resultados: De 4595 niños en el periodo de estudio, recibieron el diagnóstico de epilepsia 605 (13,17%), siendo 277 (45,79%) epilepsias sintomáticas. Entre los pacientes que iniciaron la epilepsia por debajo del año de vida predominan las de etiología sintomática (67,72%). Entre los que la iniciaron entre 1-3 años, fueron sintomáticas el 61,39%. En cuanto a su etiología, ha sido: encefalopatías prenatales (24,46% del total de epilepsias), encefalopatías perinatales (9,26%), encefalopatías posnatales (3,14%), encefalopatías metabólicas y degenerativas (1,98%), esclerosis mesial temporal (1,32%), síndromes neurocutáneos (2,64%), malformaciones vasculares (0,17%), cavernomas (0,17%) y tumores intracraneales (2,48%). Algunas etiologías inician sus manifestaciones epilépticas por debajo del año de vida, como el síndrome de Down, la lisencefalia genética, la infección congénita por citomegalovirus, la encefalopatía hipóxico-isquémica, las encefalopatías metabólicas o la esclerosis tuberosa. Conclusiones: La ausencia de una clasificación universalmente aceptada de los síndromes epilépticos dificulta comparaciones entre series. Sugerimos que todas las epilepsias son sintomáticas puesto que tienen causa, genética o adquirida. La edad de inicio orienta a determinadas etiologías. Una clasificación útil es la etiológica, con 2 grupos: un gran grupo con las etiologías establecidas o síndromes genéticos muy probables y otro de casos sin causa establecida, que con los avances en neuroimagen y genética cada vez será menor (AU)

Objective: We conducted a descriptive study of symptomatic epilepsy by age at onset in a cohort of patients who were followed up at a neuropaediatric department of a reference hospital over a 3-year period. Patients and methods: We included all children with epilepsy who were followed up from January 1, 2008 to December 31, 2010. Results: Of the 4595 children seen during the study period, 605 (13.17%) were diagnosed with epilepsy; 277 (45.79%) of these had symptomatic epilepsy. Symptomatic epilepsy accounted for 67.72% and 61.39% of all epilepsies starting before one year of age, or between the ages of one and 3, respectively. The aetiologies of symptomatic epilepsy in our sample were: prenatal encephalopathies (24.46% of all epileptic patients), perinatal encephalopathies (9.26%), post-natal encephalopathies (3.14%), metabolic and degenerative encephalopathies (1.98%), mesial temporal sclerosis (1.32%), neurocutaneous syndromes (2.64%), vascular malformations (0.17%), cavernomas (0.17%), and intracranial tumours (2.48%). In some aetiologies, seizures begin before the age of one; these include Down syndrome, genetic lissencephaly, congenital cytomegalovirus infection, hypoxic-ischaemic encephalopathy, metabolic encephalopathies, and tuberous sclerosis. Conclusions: The lack of a universally accepted classification of epileptic syndromes makes it difficult to compare series from different studies. We suggest that all epilepsies are symptomatic because they have a cause, whether genetic or acquired. The age of onset may point to specific aetiologies. Classifying epilepsy by aetiology might be a useful approach. We could establish 2 groups: a large group including epileptic syndromes with known aetiologies or associated with genetic syndromes which are very likely to cause epilepsy, and another group including epileptic syndromes with no known cause. Thanks to the advances in neuroimaging and genetics, the latter group is expected to become increasingly smaller (AU)

Descriptive study of symptomatic epilepsy by age of onset in patients with a 3-year follow-up at the Neuropaediatric Department of a reference centre. / Estudio descriptivo de las epilepsias sintomáticas según edad de inicio controladas durante 3 años en una Unidad de Neuropediatría de referencia regional.

OBJECTIVE: We conducted a descriptive study of symptomatic epilepsy by age at onset in a cohort of patients who were followed up at a neuropaediatric department of a reference hospital over a 3-year period PATIENTS AND METHODS: We included all children with epilepsy who were followed up from January 1, 2008 to December 31, 2010 RESULTS: Of the 4595 children seen during the study period, 605 (13.17%) were diagnosed with epilepsy; 277 (45.79%) of these had symptomatic epilepsy. Symptomatic epilepsy accounted for 67.72% and 61.39% of all epilepsies starting before one year of age, or between the ages of one and 3, respectively. The aetiologies of symptomatic epilepsy in our sample were: prenatal encephalopathies (24.46% of all epileptic patients), perinatal encephalopathies (9.26%), post-natal encephalopathies (3.14%), metabolic and degenerative encephalopathies (1.98%), mesial temporal sclerosis (1.32%), neurocutaneous syndromes (2.64%), vascular malformations (0.17%), cavernomas (0.17%), and intracranial tumours (2.48%). In some aetiologies, seizures begin before the age of one; these include Down syndrome, genetic lissencephaly, congenital cytomegalovirus infection, hypoxic-ischaemic encephalopathy, metabolic encephalopathies, and tuberous sclerosis. CONCLUSIONS: The lack of a universally accepted classification of epileptic syndromes makes it difficult to compare series from different studies. We suggest that all epilepsies are symptomatic because they have a cause, whether genetic or acquired. The age of onset may point to specific aetiologies. Classifying epilepsy by aetiology might be a useful approach. We could establish 2 groups: a large group including epileptic syndromes with known aetiologies or associated with genetic syndromes which are very likely to cause epilepsy, and another group including epileptic syndromes with no known cause. Thanks to the advances in neuroimaging and genetics, the latter group is expected to become increasingly smaller.

Phenotype in patients with intellectual disability and pathological results in array CGH. / Fenotipo en pacientes con discapacidad intelectual y array-CGH patológico.

INTRODUCTION: Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with pathological results in this genetic test. METHODS: We conducted a blind study of the epidemiological, clinical, anthropometric, and morphological features of 80 patients with unexplained ID to determine which features were associated with pathological results in array-CGH. RESULTS: Pathological results were found in 27.5% of the patients. Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25). CONCLUSIONS: Our findings are consistent with those reported by other published series. We therefore conclude that the probability of having pathological results in array-CGH increases with the presence of any of the features mentioned above in patients with ID/GDD.

[A descriptive study of non-symptomatic epilepsy according to age at onset at a Neuropediatric Section of regional reference]. / Estudio descriptivo de las epilepsias no sintomaticas segun la edad de inicio en una unidad de neuropediatria de referencia regional.

AIM: A descriptive study of non-symptomatic epilepsy (idiopathic and cryptogenic), according to age at onset, monitored at a Neuropediatric Section of regional reference over a period of three years. PATIENTS AND METHODS: A review of neuropediatric database medical records of children with non-symptomatic epilepsy supervised from Jan 1, 2008 till December 31, 2010. RESULTS: Of the 4595 children attended during the period, 605 were diagnosed with epilepsy (13.17%): 156 (25.79%) idiopathic epilepsies and 172 (28.43%) cryptogenic epilepsies. The average age at onset of the total was 4.78 years: 6.31 years in idiopathic epilepsies and 5.43 years in cryptogenic epilepsies. 26.12% of all the epilepsies began in the first year of life. Idiopathic epilepsy predominates in the startup group of 6-10 years and cryptogenic epilepsy in 3-6 years. Absence epilepsy and benign childhood epilepsy with centro-temporal spikes are the idiopathic epileptic syndromes most prevalent. CONCLUSIONS: Many differences exist among published epidemiological data on childhood epilepsy due to the difficulty of a syndromic diagnosis in children, caused by clinical and electroencephalographic variability. The absence of a universally accepted classification of epileptic syndromes makes it difficult to compare publications. All epilepsies are symptomatic as they have a cause, whether it be genetic or acquired. A useful classification would be etiological, with two groups: one large with established etiology or very likely genetic syndromes and another with no established cause. The age at onset indicates specific etiologies.

TITLE: Estudio descriptivo de las epilepsias no sintomaticas segun la edad de inicio en una unidad de neuropediatria de referencia regional.Objetivo. Estudio descriptivo de las epilepsias no sintomaticas (idiopaticas y criptogenicas), segun la edad de inicio, controladas en una unidad de neuropediatria de referencia regional durante tres años. Pacientes y metodos. Revision de historias de niños con epilepsia no sintomatica de la base de datos de neuropediatria controlados del 1 de enero de 2008 al 31 de diciembre de 2010. Resultados. De 4.595 niños atendidos en el periodo, se diagnosticaron de epilepsia 605 (13,17%), de las cuales 156 (25,79%) fueron idiopaticas, y 172 (28,43%), criptogenicas. La edad media de inicio del total fue de 4,78 años; 6,31 años en las idiopaticas y 5,43 años en las criptogenicas. El 26,12% del total de epilepsias se inicio en el primer año. Las epilepsias idiopaticas predominan en el grupo de inicio de 6-10 años, y las criptogenicas, en el de 3-6 años. La epilepsia de ausencias y la epilepsia benigna de la infancia con paroxismos centrotemporales son los sindromes epilepticos idiopaticos mas prevalentes. Conclusiones. Existen muchas diferencias de datos epidemiologicos publicados sobre epilepsia infantil por la dificultad que entraña un diagnostico sindromico en la edad pediatrica, debido a la variabilidad clinica y electroencefalografica. La ausencia de una clasificacion universalmente aceptada de los sindromes epilepticos dificulta comparaciones entre series. Todas las epilepsias son sintomaticas, puesto que tienen causa, sea genetica o adquirida. Una clasificacion util es la etiologica, con dos grupos: un gran grupo con las etiologias establecidas o sindromes geneticos muy probables y otro de casos sin causa establecida. La edad de inicio orienta a determinadas etiologias.

Galactocele: tumor mamario en un varón prepuberal / Galactocele: unilateral breast enlargement in prepubertal male

Introducción: Las enfermedades mamarias en niños y adolescentes de uno y otro sexo son poco frecuentes. Entre los tumores mamarios benignos, el galactocele es de rara aparición en la infancia y se caracteriza por la acumulación de fluido lechoso en una lesión quística mamaria. Caso clínico: Niño de 4 años de edad, previamente sano, que presenta una masa retromamaria izquierda indolora. La ecografía muestra una lesión quística que es extirpada con diagnóstico anatomopatológico de galactocele. Conclusiones: El galactocele debe considerarse una posible causa de tumor mamario benigno en la infancia. El diagnóstico anatomopatológico es clave y su exéresis resulta curativa. Finalmente, se precisan más estudios acerca de su etiología y fisiopatogenia, aún no esclarecidas (AU)

Introduction: Breast diseases in children and adolescents of both sexes are rare. Galactocele is an uncommon benign breast lesion in infants and children and is characterized by the accumulation of milky fluid in a mammary cystic lesion.Clinical case: 4 years previously healthy male presented with left breast enlargement. Ultrasound showed cystic lesion which was excised with the diagnosis of galactocele. Conclusions: Galactocele should be considered as a possible cause of benign breast tumors in infants. The microscopic examination is the key for the diagnosis and excision is curative. Finally, further investigations about its etiology and pathogenesis are necessary (AU)

[Gorlin syndrome in the paediatric age]. / Síndrome de Gorlin en la edad pediátrica.

INTRODUCTION: Gorlin syndrome (GS) is a disorder transmitted by dominant autosomal inheritance associated to mutations in PTCH1, the main characteristic of which is the appearance of basal cell carcinomas, together with skeletal abnormalities, odontogenic keratocysts and intracranial tumours. CASE REPORT: A girl aged 3 years and 10 months, who was admitted due to acute ataxia. Some of the more striking features in the patient's personal history include psychomotor retardation and a family history of suspected GS in the mother as a result of a maxillary cyst. An examination revealed macrocephaly with a prominent forehead and hypertelorism, as well as nevus. A genetic study for GS was requested, in which mutation c.930delC was detected in exon 6 of the PTCH1 gene in heterozygosis. CONCLUSIONS: In GS there is an increase in the likelihood of developing basal cell carcinomas and strict dermatological monitoring is necessary. A clinical neurological follow-up and also magnetic resonance imaging scans are needed for an early diagnosis of intracranial tumours, especially in the case of medulloblastomas. Odontogenic keratocysts, other skin disorders, and cardiac and ovarian fibromas are characteristic, as are skeletal abnormalities, which require regular clinical and neuroimaging controls and treatment if needed, but radiation must be avoided. GS is a rare disorder, but it must be suspected in the presence of characteristic alterations. It requires a multidisciplinary follow-up, and it is also necessary to establish a protocol on how to act so as to allow early diagnosis and treatment of the potentially severe complications deriving from this disease.

TITLE: Sindrome de Gorlin en la edad pediatrica.Introduccion. El sindrome de Gorlin (SG) es un trastorno de herencia autosomica dominante asociado a mutaciones en el gen PTCH1, cuya principal caracteristica es la aparicion de carcinomas basocelulares, unido a anomalias esqueleticas, queratoquistes odontogenicos y tumores intracraneales. Caso clinico. Niña de 3 años y 10 meses, ingresada por ataxia aguda. Destacan como antecedentes personales retraso psicomotor y como antecedentes familiares la sospecha de SG en la madre por quiste maxilar. En la exploracion, se aprecia macrocefalia con frente prominente e hipertelorismo, asi como nevo. Se solicita estudio genetico de SG, en el que se detecta la mutacion c.930delC en el exon 6 del gen PTCH1 en heterocigosis. Conclusiones. En el SG hay un aumento de la susceptibilidad al desarrollo de carcinomas basocelulares y es preciso un estrecho control dermatologico. Es necesario un seguimiento neurologico clinico y de imagen, mediante resonancia magnetica, para el diagnostico precoz de tumores intracraneales, fundamentalmente el meduloblastoma. Tambien son caracteristicos los queratoquistes odontogenicos, otras alteraciones cutaneas, fibromas cardiacos y ovaricos, asi como anomalias esqueleticas, que precisan controles clinicos y de imagen periodicos, y tratamiento en caso de ser necesarios, pero debe evitarse la radiacion. El SG es un trastorno poco frecuente, que se debe sospechar ante la presencia de alteraciones caracteristicas. Es necesario un seguimiento multidisciplinar, asi como establecer un protocolo de actuacion, para un temprano diagnostico y tratamiento de las complicaciones potencialmente graves derivadas de esta enfermedad.

Cuando una neumonía atípica es "muy atípica" / When atypical pneumonia is "very atypical"

Se presenta el caso de un chico de 14 años que acude a un Servicio de Urgencias hospitalario por presentar dolor mesotorácico y dificultad para respirar. En la radiografía de tórax se aprecia una condensación en el lóbulo superior derecho y serología IgM positiva para Mycoplasma pneumoniae. Inicialmente se diagnosticó de neumonía atípica y se trató con amoxicilina más claritromicina. Cuarenta y ocho horas después acude al centro de Atención Primaria (AP). En la historia clínica de AP figura el antecedente paterno de haber padecido una tuberculosis pleuropulmonar cinco años antes. El niño presentó en ese momento un Mantoux positivo con radiografía de tórax normal y fue tratado de forma profiláctica con isoniacida. Estos antecedentes llevan a plantear el diagnóstico de tuberculosis, repitiéndose el Mantoux y poniendo en marcha la petición de baciloscopias y cultivo para Mycobacterium tuberculosis, siendo ambos positivos. El tratamiento inicial fue sustituido por un tratamiento con cuatro fármacos antituberculosos. La valoración de la renovación de recetas por parte de la enfermera de AP cuestionó el correcto cumplimiento del tratamiento. Todo ello llevó a una mueva intervención del equipo de AP para informar, reforzar y responsabilizar a la familia acerca del correcto cumplimiento del tratamiento (AU)

The authors present the case of a 14 years old boy attended in a hospital emergency room for thoracic pain and difficult breathing. The Rx shows a condensation in LSD and IgM serology positive for mycoplasma pneumoniae. Initially it was diagnosed with atypical pneumonia and was treated with amoxicillin and clarythromicin. Forty-eight hours later he attends the Health Primary Care Center. Primary care medical history contains the paternal antecedent of having suffered a pleuropulmonar tuberculosis five years earlier. The child presented a positive Mantoux with normal Rx at that time and he was treated with prophylactic isoniazid. These records raise the question of the potential diagnosis of tuberculosis, performing the mantoux test again and a smear and culture for mycobacterium tuberculosis, resulting both positive. The initial treatment was replaced by a treatment with four antituberculous drugs. The evaluation of the renewal of prescriptions by the primary care nurse questioned the correct treatment compliance. This led to an intervention of the primary care team to inform, strengthen and force the responsibility of the family about the correct treatment compliance (AU)

Consentimiento informado: algo más que una firma / Informed consent: more than just a signature

El consentimiento informado (CI) es la explicación que el médico o profesional sanitario da al paciente de la naturaleza de su enfermedad y del balance entre los efectos y los riesgos de las intervenciones diagnósticas y terapéuticas. Esta información debe estar adaptada al nivel de comprensión y a las características individuales del paciente. En el caso de los menores de edad, su opinión debe tenerse en cuenta y su madurez debe ser valorada por el médico. El CI debe considerarse un proceso de asistencia en la toma de decisiones y no la mera firma de un formulario. Se presenta el caso de una niña de 12 años con escoliosis idiopática en la que se indica una intervención quirúrgica que fue inicialmente rechazada tanto por la madre como por la niña. La intervención del equipo del centro de salud fue decisiva en este caso para una correcta toma de decisiones por parte de la familia (AU)

The informed consent (IC) is the explanation that the doctor or health professional gives to the patient on the nature of his disease and on the balance between the benefits and risks of the diagnostic and therapeutic interventions. This information must be adapted to the level of understanding and to the patient’s individual characteristics. In the case of the minors, his opinion must be taken into account and his maturity valued by the doctor. The IC must be considered as a process of assistance in the making of decisions and not as the mere signature of a form. The case report of a 12-year-old girl with severe idiopathic scoliosis is presented. The orthopedic team indicated a surgical intervention that was initially rejected both by the mother and the girl. The intervention of the Primary care staff was decisive in this case for a correct decisions making by the family (AU)