Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable / 15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity

Presentamos el caso de un niño con retraso psicomotor y rasgos dismórficos afectado de una microdeleción 15q11.2 de 1.5 Mb de origen paterno diagnosticada mediante array-based comparative genomic hybridization. La deleción está comprendida entre los puntos de rotura BP1-BP2 de la región crítica descrita para los síndromes Prader-Willi/Angelman. Comparamos las características clínicas de nuestro paciente con las halladas en los 10 casos de deleción puraBP1-BP2 descritos hasta la fecha (AU)

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by a CGH. The deletionis located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2deletion published to date (AU)

[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]. / Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable.

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by aCGH. The deletion is located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2 deletion published to date.

[Clinical characteristics and progress of patients with migrainous headaches monitored in the Headache Unit in a paediatric referral hospital]. / Características clínicas y evolución de los pacientescon cefalea migrañosa seguidos en la Unidad deCefaleas de un hospital pediátrico de referencia.

AIM: To analyse the clinical characteristics and course of migraine patients who were attended in the Headache Unit of a paediatric referral hospital. PATIENTS AND METHODS: We conducted a retrospective observational study of children monitored in the Headache Unit of the Neurology Service who satisfied the International Headache Society diagnostic criteria for migraine, with a follow-up lasting more then six months. The following were excluded from the study: patients who failed to comply with the treatment or clinical monitoring, or whose medical data were incomplete. RESULTS: There was a predominance of patients aged between 7 and 12 years, with no differences as regards sex. Bilateral and frontal migraine without aura predominated (74%), with episodes lasting between 3 and 12 hours, and the throbbing type accounted for 45% of cases. The most common accompanying symptoms were photophobia (86%) and phonophobia (88%). Except for the second visit, the tendency of the group without prophylactic treatment was favourable. When prophylactic treatment was indicated, a favourable response was observed (p < 0.05), and no significant differences were found as regards the type of medication employed. A total of 73% of the patients were discharged, and most of them required three visits; 30% of the patients treated reported some kind of side effects. CONCLUSIONS: Migraine at the paediatric age is characterised by short but intense episodes of headache that are mostly located in the frontal area. Progress is satisfactory without pharmacological measures in a high percentage of patients. When prophylactic medication was required (due to the patient's presenting frequent episodes of migraine with high scores on the PedMIDAS rating scale), a favourable response was obtained (p < 0.05), with some side effects.

Características clínicas y evolución de los pacientes con cefalea migrañosa seguidos en la Unidad de Cefaleas de un hospital pediátrico de referencia / Clinical characteristics and progress of patients with migrainous headaches monitored in the headache unit in a paediatric referral hospital

Analizar características clínicas y evolución de niños con migraña, atendidos en la Unidad de Cefaleasde un hospital pediátrico de referencia. Pacientes y métodos. Estudio observacional retrospectivo de niños seguidos en la Unidad de Cefaleas del Servicio de Neurología, que cumplían criterios diagnósticos de migraña según la Sociedad Internacional de Cefaleas, con seguimiento superior a seis meses. Se excluyeron: pacientes con abandono del tratamiento o controles clínicos, datos incompletos en el expediente. Resultados. Se encontró predominio de pacientes con edades entre 7 y 12 años, sin diferencia respecto al sexo. Predominó la migraña sin aura (74%) de localización bilateral y frontal, con duración de los episodios entre 3 y 12 horas, y fue pulsátil en el 45%. Los síntomas acompañantes más comunes fueron fotofobia (86%) y fonofobia (88%). Exceptuando la segunda consulta, la tendencia del grupo sin tratamiento profiláctico fue favorable. Cuando se indicó tratamiento profiláctico, se evidenció una respuesta favorable (p < 0,05), y no se encontraron diferencias significativas respecto al fármaco. Al 73% de los pacientes se les dio de alta, y la mayoría precisaron tres consultas; el 30% de los pacientes tratados comunicó algún tipo de efecto adverso. Conclusiones. La migraña en la edad pediátrica se caracteriza por episodios intensos de cefalea de corta duración y localización frontal en la mayoría de los casos. La evolución es satisfactoria sin medidas farmacológicas en un porcentaje alto de pacientes. Cuando se requirió medicación profiláctica (por presentar episodios frecuentes de migraña con puntuaciones altas en la escala PedMIDAS), la respuesta obtenida fue favorable (p < 0,05), con algunos efectos adversos

To analyse the clinical characteristics and course of migraine patients who were attended in the HeadacheUnit of a paediatric referral hospital. Patients and methods. We conducted a retrospective observational study of children monitored in the Headache Unit of the Neurology Service who satisfied the International Headache Society diagnostic criteria for migraine, with a follow-up lasting more then six months. The following were excluded from the study: patients who failed to comply with the treatment or clinical monitoring, or whose medical data were incomplete. Results. There was a predominance of patients aged between 7 and 12 years, with no differences as regards sex. Bilateral and frontal migraine without aura predominated (74%), with episodes lasting between 3 and 12 hours, and the throbbing type accounted for 45% of cases. The most common accompanying symptoms were photophobia (86%) and phonophobia (88%). Except for the second visit, the tendency of the group without prophylactic treatment was favourable. When prophylactic treatment was indicated, a favourable response was observed (p < 0.05), and no significant differences were found as regards the type of medication employed. A total of 73% of the patients were discharged, and most of them required three visits; 30% of the patients treated reported some kind of side effects. Conclusions. Migraine at the paediatric age is characterised by short but intense episodes of headache that are mostly located in the frontal area. Progress is satisfactory without pharmacological measures in a high percentage of patients. When prophylactic medication was required (due to the patient’s presenting frequent episodes of migraine with high scores on the PedMIDAS rating scale), a favourable response was obtained (p < 0.05), with some side effects

[Multiple familial cerebral cavernomatosis]. / Cavernomatosis múltiple cerebral familiar.

INTRODUCTION: Intracraneal vascular malformations are congenital lesions due to alterations in the development of arteriocapillary network. Cavernomas are present in 0.4% of people, and represent 5-13% of all cerebrovascular malformations. They are multilobulated clearly delimited lesions that contain blood at different evolution. Cavernomas can be single or multiple, and sporadic or familial. Inheritance pattern in familial cases is autosomal dominant and three involved genes have been described. CASE REPORTS: We made a retrospective review of clinical histories of two patients diagnosed of multiple familial cavernomatosis. First patient's onset was with partial seizures. Magnetic resonance (MR) showed a frontal cavernoma probable responsible of seizures, and other lesions in frontal and parietal lobes. Second patient consulted for psychomotor delay and behaviour disorder. MR showed multiple cavernomas. In the first patient, one lesion was surgically removed. In second patient, the attitude was expectant. In both cases familial study was done and multiple cavernomas were found in both parents. CONCLUSIONS: Cavernomas are a type of vascular malformations with specific histological features. Usual clinical characteristics are seizures and parenchymatous bleeding. The appearance of MR has permitted the diagnosis of asymptomatic cavernomas and is currently considered to be the technique of choice for this purpose. In familial cases, multiple lesions are found in 84%, often in association with family history of seizures. Surgical treatment must be considered in patients with symptomatic or progressive lesions that are accessible. All cases must be clinically and MR followed.

Cavernomatosis múltiple cerebral familiar / Multiple familial cerebral cavernomatosis

Introducción. Las malformaciones vasculares intracraneales son lesiones congénitas debidas a alteraciones en el desarrollo de la red arteriolocapilar. Los angiomas cavernosos están presentes en el 0,4% de los individuos y constituyen el 5- 13% de las malformaciones vasculares. Son lesiones multilobuladas, bien delimitadas, con sangre en distintos estadios evolutivos. Pueden ser únicos o múltiples, esporádicos o familiares. En los casos familiares, la herencia es autosómica dominante. Se han descrito hasta ahora tres genes implicados. Casos clínicos. Se presentan dos niños diagnosticados de cavernomatosis múltiple familiar. Uno consultó por crisis parciales y se objetivó un angioma cavernoso frontal derecho, probablemente responsable de las crisis, y otros dos en el frontal y el parietal izquierdo. El otro niño consultó por un retraso psicomotor y trastorno de conducta, y se observaron múltiples angiomas cavernosos diseminados. En el primer caso se realizó una exéresis de una de las lesiones, mientras que en el segundo se decidió una actitud conservadora. Se realizó un estudio familiar y se encontraron angiomas cavernosos múltiples en ambos padres. Conclusiones. Los angiomas cavernosos son un tipo de malformación vascular con unas características histológicas determinadas. Los síntomas clínicos habituales son convulsiones y hemorragia parenquimatosa. La aparición de la resonancia magnética ha permitido el diagnóstico de angiomas cavernosos asintomáticos, y actualmente se considera la técnica de elección para el diagnóstico. La forma familiar presenta lesiones múltiples hasta en un 84% y se asocia frecuentemente con una historia familiar de crisis epilépticas. El tratamiento quirúrgico debe plantearse en casos de lesiones de localización accesible que hayan producido síntomas en repetidas ocasiones o de forma progresiva. En todos los casos se realizarán controles clínicos y de resonancia magnética

Introduction. Intracraneal vascular malformations are congenital lesions due to alterations in the development of arteriocapillary network. Cavernomas are present in 0,4% of people, and represent 5-13% of all cerebrovascular malformations. They are multilobulated clearly delimited lesions that contain blood at different evolution. Cavernomas can be single or multiple, and sporadic or familial. Inheritance pattern in familial cases is autosomal dominant and three involved genes have been described. Case reports. We made a retrospective review of clinical histories of two patients diagnosed of multiple familial cavernomatosis. First patient’s onset was with partial seizures. Magnetic resonance (MR) showed a frontal cavernoma probable responsible of seizures, and other lesions in frontal and parietal lobes. Second patient consulted for psychomotor delay and behaviour disorder. MR showed multiple cavernomas. In the first patient, one lesion was surgically removed. In second patient, the attitude was expectant. In both cases familial study was done and multiple cavernomas were found in both parents. Conclusions. Cavernomas are a type of vascular malformations with specific histological features. Usual clinical characteristics are seizures and parenchymatous bleeding. The appearance of MR has permitted the diagnosis of asymptomatic cavernomas and is currently considered to be the technique of choice for this purpose. In familial cases, multiple lesions are found in 84%, often in association with family history of seizures. Surgical treatment must be considered in patients with symptomatic or progressive lesions that are accessible. All cases must be clinically and MR followed

[Cerebrovascular stroke as a sign of atrial myxoma in childhood]. / Accidente cerebrovascular como manifestación de mixoma auricular.

Primary cardiac tumors are uncommon with an estimated incidence of between 0.0017 % and 0.19 %. Most are benign. Whereas myxomas are the most common primary tumor in adults, in children they are exceptionally rare. Cardiac myxomas usually develop in the left atrium, 20 % occur in the right atrium and the remainder develops in the ventricles and rarely in the heart valves. Cerebrovascular strokes secondary to myxoma are rare in childhood. The diagnostic test of choice is transesophageal echocardiogram and early excision is the most effective treatment in preventing serious complications. We report a case of cerebral stroke as the only manifestation of an atrial myxoma in an 11-year-old-girl. The patient presented vertigo, right hemiparesis of the body and dysarthria without loss of consciousness. After diagnostic tests (computerized tomography, magnetic resonance imaging and cerebral angioresonance) she was diagnosed with an ischemic lesion in the left middle cerebral artery. Various investigations were performed to find the cause of the stroke, among them cardiologic study, and a mass in the left atrium suggestive of myxoma was found. The tumor was removed and the diagnosis of myxoma was confirmed by histopathological examination. Outcome was satisfactory. The presence of a cerebral ischemic episode, with or without concomitant heart disease, suggests the need to look for cardiac etiology.

Accidente cerebrovascular como manifestación de mixoma auricular / Cerebrovascular stroke as a sign of atrial myxoma in childhood

Los tumores cardíacos primarios son extremadamente raros, con una incidencia estimada entre el 0,0017 y el 0,19 por ciento. En su mayoría son benignos. Mientras los mixomas son los más frecuentes en adultos, en niños es un proceso infrecuente. Los mixomas se encuentran principalmente en la aurícula izquierda, el 20 por ciento en la aurícula derecha, el resto en los ventrículos y, muy rara vez, en las válvulas auriculoventriculares. Los accidentes cerebrovasculares secundarios a un mixoma son bastante raros, sobre todo en la edad pediátrica. Se considera que el ecocardiograma transesofágico es el estudio diagnóstico de elección y la resección temprana es el tratamiento más adecuado para evitar las complicaciones graves. Se presenta el caso de un mixoma auricular como causa de accidente cerebrovascular en una niña de 11 años, que ingresó tras presentar vértigo, pérdida de fuerza en hemicuerpo derecho y dificultad para el habla, sin pérdida de conocimiento para estudio. Tras la realización de estudios complementarios (tomografía computarizada, resonancia magnética y angiorresonancia cerebral) se diagnosticó infarto de la arteria cerebral media izquierda. Se realizaron diversos estudios para clasificar el origen del accidente cardiovascular, entre ellos, el estudio cardiológico, encontrándose una masa en aurícula izquierda indicativa de mixoma. Se realizó resección del tumor y se confirmó el diagnóstico de mixoma mediante el estudio anatomopatológico. La evolución clínica fue satisfactoria. Ante la presencia de un suceso isquémico en territorio cerebral, con o sin evidencia de enfermedad cardíaca, debe buscarse intencionadamente una causa cardíaca (AU)