El pediatre davant un lactant amb dismorfisme cranial / El pediatra ante un lactante con dismorfia craneal / The pediatrician’s approach to an infant with cranial dysmorphism

Fonament. El dismorfisme cranial és una anomalia detectadasovint des de l’atenció primària. Els darrers anys la sevaincidència ha anat en augment a causa de la implantació dela campanya per evitar la mort sobtada dels lactants, en quèes recomana la posició en decúbit supí per dormir. Sovintaquesta troballa exploratòria és fruit de derivacions a especialistes atesa la dificultat que suposa diferenciar els dismorfismes cranials posturals dels d’origen sinostòtic, secundaris a la fusió prematura de les sutures cranials.Objectiu. Descriure la presentació clínica, l’exploració física, els possibles tractaments i el pronòstic dels diferentsdismorfismes cranials, posant un èmfasi especial en donarclaus per diferenciar els dismorfismes cranials posturalsdels sinostòtics.Mètode. Mitjançant revisió bibliogràfica, emprant les paraules clau «craniosynostosis» i «nonsynostotic plagiocephaly»a les bases de dades UpToDate i PubMed.Resultats. El tractament i el pronòstic dels dismorfismescranials varia en funció de l’etiologia i la gravetat. En lesdeformitats posicionals és primordial conèixer les mesurespreventives per evitar-los. D’altra banda, les craniosinostosis s’han de derivar a neurocirurgia i totes es tracten quirúrgicament. Operades a temps, les craniosinostosis solentenir molt bon pronòstic i se n’eviten les seqüeles.Conclusions. Té una importància vital saber diferenciar lesetiologies dels diferents dismorfismes cranials. Cal empoderar els pares de manera que puguin prevenir dismorfismes posturals i, com a pediatres, hem de ser capaços dereconèixer possibles craniosinostosis i derivar-les a la consulta especialitzada per fer un tractament precoç i millorarel pronòstic d’aquests infants. (AU)

Fundamento. Las dismorfias craneales son una anomalía detectadafrecuentemente desde la atención primaria. En los últimos años suincidencia ha ido en aumento debido a la implantación de la campaña para evitar la muerte súbita de los lactantes, donde se recomienda la posición en decúbito supino para dormir. A menudo este hallazgo exploratorio es fruto de derivaciones a especialistas dadala dificultad que supone diferenciar las dismorfias craneales posturales de las de origen sinostótico, secundarias a la fusión prematura de las suturas craneales.Objetivo. Describir la presentación clínica, la exploración física, losposibles tratamientos y el pronóstico de las diferentes dismorfiascraneales, poniendo especial énfasis en dar claves para diferenciarlas dismorfias craneales posturales de las sinostóticas.Método. Mediante revisión bibliográfica, usando las palabras clave«craniosynostosis» y «nonsynostotic plagiocephaly» en las basesde datos UpToDate y PubMed.Resultados. El tratamiento y pronóstico de las dismorfias cranealesvaría en función de su etiología y gravedad. En las deformidadesposicionales es primordial conocer las medidas preventivas paraevitarlas. Por otro lado, las craneosinostosis deben ser derivadas aneurocirugía y todas se tratan quirúrgicamente. Operadas a tiempo,las craneosinostosis suelen tener muy buen pronóstico y se evitanlas secuelas de esta entidad.Conclusiones. Es de vital importancia saber diferenciar las etiologías de las diferentes dismorfias craneales. Hay que empoderar alos padres de forma que puedan prevenir dismorfias posturales y,como pediatras, debemos ser capaces de reconocer posibles craneosinostosis y derivarlas a la consulta especializada para poderhacer un tratamiento precoz y mejorar el pronóstico de estos niños. (AU)

Background. Cranial dysmorphism is a congenital defect usuallydetected in primary care. Over the last few years, its incidence hasincreased due to the implementation of prone position for infantsduring sleep to avoid sudden death. Often, this finding results inreferrals to specialists given the difficulties in distinguishing between positional dysmorphism from those of syntostotic origin,which are secondary to premature fusion of the cranial sutures.Objective. To describe the clinical presentation, physical examination, possible treatments, and prognosis, of the different cranialdysmorphisms, and highlight the differential diagnosis betweenpositional dysmorphism and craniosynostosis.Method. Literature review of the UpToDate and PubMed databasesusing the key words “craniosynostosis” and “nonsynostotic plagiocephaly”. Results. The treatment and prognosis of cranial dysmorphism varies according to its etiology and severity. In positional deformitiesit is key to understand the possible preventive measures. Childrenwith craniosynostosis should be referred for neurosurgicaltreatment. With timely surgical correction, craniosynostosis have avery good prognosis with minimal sequelae.Conclusions. It is important to differentiate between the differentcauses of cranial dysmorphism. Parents should be educated toprevent positional deformities, and pediatricians should be able torecognize possible cases of craniosynostosis and refer them forearly treatment. (AU)

Hematoma intraparenquimatoso asociado a vasculitis ANCA positiva / Intraparenchymal haematoma associated with an ANCA-positive vasculitis

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Supratentorial neuroenteric cyst in children: a case report and brief literature review.

Neurenteric cysts are rare developmental lesions typically found outside the central nervous system but when they do, we most likely find them in a spinal (cervical or dorsal) intradural extramedular location, often associated with dysraphism. The more unusual intracranial cases have been published because of its rarity, occurring mostly as a posterior fossa extra-axial cyst, in adults. Supratentorial cases are distinctly infrequent, especially in children, resulting in few case reports and even fewer case reviews. We describe a case of a child with a supratentorial neurenteric cyst and present a brief review of the literature about these cysts in children, a noticeable gap in the literature.

Seno dérmico lumbar: consecuencias de un retraso diagnóstico / Lumbar dermal sinus: Consequences of a delayed diagnosis

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Vanishing diffuse leptomeningeal contrast enhancement in an infant with choroid plexus papilloma.

Choroid plexus tumors (CPT) can present in the baseline magnetic resonance imaging (MRI) with lesions compatible with leptomeningeal dissemination. Therapeutic strategy in this condition is controversial. We present a case of an infant with CPP and significant diffuse leptomeningeal contrast enhancement at diagnosis, which spontaneously resolved after removal of the primary tumor. In these challenging cases, several aspects, such as histopathological/molecular diagnosis and close radiological follow-up, should be taken into account to avoid unnecessary treatments.

Tumor dissemination through surgical tracts in diffuse intrinsic pontine glioma.

OBJECTIVEDiffuse intrinsic pontine glioma (DIPG) is a highly aggressive and lethal brainstem tumor in children. In the 1980s, routine biopsy at presentation was abandoned since it was claimed "unnecessary" for diagnosis. In the last decade, however, several groups have reincorporated this procedure as standard of care or in the context of clinical trials. Expert neurosurgical teams report no mortality and acceptable morbidity, and no relevant complications have been previously described. The aim of this study was to review needle tract dissemination as a potential complication in DIPG.METHODSThe authors retrospectively analyzed the incidence of dissemination through surgical tracts in DIPG patients who underwent biopsy procedures at diagnosis in 3 dedicated centers. Clinical records and images as well as radiation dosimetry from diagnosis to relapse were reviewed.RESULTSFour patients (2 boys and 2 girls, age range 6-12 years) had surgical tract dissemination: in 3 cases in the needle tract and in 1 case in the Ommaya catheter tract. The median time from biopsy to identification of dissemination was 5 months (range 4-6 months). The median overall survival was 11 months (range 7-12 months). Disseminated lesions were in the marginal radiotherapy field (n = 2), out of the field (n = 1), and in the radiotherapy field (n = 1).CONCLUSIONSAlthough surgical tract dissemination in DIPG is a rare complication (associated with 2.4% of procedures in this study), it should be mentioned to patients and family when procedures involving a surgical tract are proposed. The inclusion of the needle tract in the radiotherapy field may have only limited benefit. Future studies are warranted to explore the benefit of larger radiotherapy fields in patients with DIPG.

Hidrocefalia por hiperplasia de plexos coroideos en un paciente con mosaicismo de trisomía 9. Un verdadero reto diagnóstico y terapéutico / Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge

Introducción. La trisomía 9 es una cromosomopatía inusual en pacientes nacidos vivos, que frecuentemente se acompaña de anomalías funcionales y estructurales del sistema nervioso central. Entre otras muchas alteraciones, varios trabajos en la bibliografía anglosajona demuestran una asociación entre cromosomopatía 9 y patología de los plexos coroideos. Caso clínico. Varón de 4 meses de vida con mosaicismo de trisomía 9 asociado a hidrocefalia secundaria a hiperplasia de los plexos coroideos, que fue remitido por clínica de hipertensión intracraneal. El procedimiento derivativo de líquido cefalorraquídeo por el que optamos inicialmente provocó una ascitis masiva debida a la producción desmesurada de líquido cefalorraquídeo, y desembocó en una cascada de múltiples intervenciones quirúrgicas, entre las que se incluyeron procedimientos endoscópicos y derivativos. Conclusiones. Se trata de un ejemplo más de asociación entre patología de los plexos coroideos y cromosomopatía 9. Debido a su escasa incidencia, es difícil establecer el diagnóstico de hidrocefalia secundaria a hiperplasia de los plexos y, por tanto, el tratamiento más adecuado. En este tipo de hidrocefalia existe un doble mecanismo fisiopatológico, que implica un aumento de producción de líquido cefalorraquídeo y una disminución de su reabsorción. A pesar de tener en cuenta dicha consideración, el tratamiento de la hidrocefalia secundaria a hiperplasia de los plexos supone un verdadero reto que habitualmente pasa por múltiples procedimientos quirúrgicos, desde la plexectomía o coagulación de los plexos coroideos hasta la implantación de dispositivos de derivación de líquido cefalorraquídeo (AU)

Introduction. Trisomy 9 is an unusual chromosome abnormality in live-born patients, which is frequently accompanied by functional and structural anomalies of the central nervous system. Among many other alterations, several studies have been published in the English-speaking literature that show an association between chromosome 9 abnormality and pathologies affecting the choroid plexuses. Case report. We report the case of a 4-month-old male with trisomy 9 mosaicism associated to hydrocephalus secondary to choroid plexus hyperplasia, who was referred due to a clinical picture of intracranial hypertension. The cerebrospinal fluid (CSF) drainage procedure that was initially chosen caused massive ascites due to an excessive production of CSF, and led to a cascade of multiple surgical interventions, which included endoscopic and drainage procedures. Conclusions. This is another example of an association between choroid plexus pathologies and chromosome 9 abnormality. Due to its scarce incidence, diagnosis of hydrocephalus secondary to plexus hyperplasia is difficult, as is selecting its most suitable treatment. In this type of hydrocephalus there is a double pathophysiological mechanism, which involves an increase in CSF production and a decrease in its reabsorption. Despite taking these considerations into account, the treatment of hydrocephalus secondary to plexus hyperplasia is a real challenge that usually leads to multiple surgical interventions ranging from plexectomy or coagulation of the choroid plexuses to the implantation of CSF drainage devices (AU)

Second re-irradiation for DIPG progression, re-considering "old strategies" with new approaches.

Diffuse intrinsic pontine glioma (DIPG) is an aggressive infiltrative glioma for which no curative therapy is available. Radiation therapy (RT) is the only potentially effective intervention in delaying tumor progression, but only transiently. At progression, re-irradiation is gaining popularity as an effective palliative therapy. However, at second progression, exclusive symptomatic treatment is usually offered. Here we report two patients with DIPG at second progression who were treated with a second re-irradiation course with good response. Importantly, treatment was well tolerated with no irradiation associated acute toxicity identified.

Fibrosarcoma epitelioide esclerosante a nivel paraespinal. Caso clínico y revisión de la literatura / Sclerosing epithelioid fibrosarcoma of the paravertebral column. Case report and literature review

El fibrosarcoma epitelioide esclerosante (SEF) es una variante poco frecuente de fibrosarcoma de bajo grado con características histológicas e inmunohistoquímicas bien definidas, caracterizado por su mal pronóstico. Presentamos un caso de SEF a nivel paraespinal en un paciente varón de 49 años con un tumor que se extiende hacia el foramen L4-L5 e invade la raíz L5. La histología de la pieza quirúrgica y el estudio inmunohistoquímico fueron compatibles con SEF. Este caso es particularmente inusual por su origen a nivel paraespinal e ilustra, a pesar de su bajo grado, el potencial de malignidad del SEF (AU)

Sclerosing epithelioid fibrosarcoma (SEF) is a rare variant of low-grade fibrosarcoma, with specific histological and immunohistochemical features and a poor prognosis. We report a case of SEF of the paravertebral column in a 49-year old male who presented a paraspinal mass with extension into the L4-L5 neural foramen and invasion of the L5 nerve root. Histology of the tumourectomy specimen and its immunohistochemical study led to the diagnosis of SEF. This case was particularly unusual due to its paravertebral column location and, despite its low grade, illustrates the malignant potential of SEF (AU)

[Sclerosing epithelioid fibrosarcoma of the paravertebral column. Case report and literature review]. / Fibrosarcoma epitelioide esclerosante a nivel paraespinal. Caso clínico y revisión de la literatura.

Sclerosing epithelioid fibrosarcoma (SEF) is a rare variant of low-grade fibrosarcoma, with specific histological and immunohistochemical features and a poor prognosis. We report a case of SEF of the paravertebral column in a 49-year old male who presented a paraspinal mass with extension into the L4-L5 neural foramen and invasion of the L5 nerve root. Histology of the tumourectomy specimen and its immunohistochemical study led to the diagnosis of SEF. This case was particularly unusual due to its paravertebral column location and, despite its low grade, illustrates the malignant potential of SEF.