Nonsyndromic craniosynostosis: novel coding variants.

BACKGROUND: Craniosynostosis (CS), the premature fusion of one or more neurocranial sutures, is associated with approximately 200 syndromes; however, about 65-85% of patients present with no additional major birth defects. METHODS: We conducted targeted next-generation sequencing of 60 known syndromic and other candidate genes in patients with sagittal nonsyndromic CS (sNCS, n = 40) and coronal nonsyndromic CS (cNCS, n = 19). RESULTS: We identified 18 previously published and 5 novel pathogenic variants, including three de novo variants. Novel variants included a paternally inherited c.2209C>G:p.(Leu737Val) variant in BBS9 of a patient with cNCS. Common variants in BBS9, a gene required for ciliogenesis during cranial suture development, have been associated with sNCS risk in a previous genome-wide association study. We also identified c.313G>T:p.(Glu105*) variant in EFNB1 and c.435G>C:p.(Lys145Asn) variant in TWIST1, both in patients with cNCS. Mutations in EFNB1 and TWIST1 have been linked to craniofrontonasal and Saethre-Chotzen syndrome, respectively; both present with coronal CS. CONCLUSIONS: We provide additional evidence that variants in genes implicated in syndromic CS play a role in isolated CS, supporting their inclusion in genetic panels for screening patients with NCS. We also identified a novel BBS9 variant that further shows the potential involvement of BBS9 in the pathogenesis of CS.

Tumores de plexo coroideo en la infancia: experiencia en el hospital Sant Joan de Déu / Choroid plexus tumours in childhood: Experience in Sant Joan de Déu hospital

Los tumores de plexo coroideo son tumores raros, con un pico de incidencia en los 2 primeros años de vida. La localización más frecuente en niños es el ventrículo lateral, mientras que en adultos es el IV ventrículo. La manifestación clínica más común son los signos y síntomas de hipertensión intracraneal. Histológicamente se clasifican en papiloma de plexo, papiloma atípico de plexo y carcinoma de plexo. Realizamos una revisión de los tumores de plexo coroideo tratados en el Hospital Sant Joan de Déu entre 1980 y 2014. Se han tratado 18 pacientes. Analizamos datos demográficos, clínicos, histológicos, tratamiento recibido y recidivas. El tratamiento de elección es la resección completa, que se acompaña de tratamiento adyuvante en carcinomas. En papilomas atípicos es controvertido el uso de tratamientos adyuvantes, reservándose la radioterapia para las recidivas. Los papilomas tienen un buen pronóstico, mientras que en papilomas atípicos y carcinomas el pronóstico es peor

Choroid plexus tumours are rare, with a peak incidence in the first two years of life. The most common location is the lateral ventricle in children, while in adults it is the fourth ventricle. The most common clinical manifestation is the signs and symptoms of intracranial hypertension. They are histologically classified as plexus papilloma, atypical plexus papilloma, and plexus carcinoma. A review is presented on choroid plexus tumours treated in the Hospital Sant Joan de Déu between 1980 and 2014. A total of 18 patients have been treated. An analysis was made of the demographic, clinical, histological data, treatment, and recurrences. The treatment of choice is complete resection, accompanied by adjuvant therapy in carcinomas. In atypical papillomas, the use of adjuvant therapies is controversial, reserving radiation therapy for recurrences. Papillomas have a good outcome, whereas atypical papillomas and carcinomas outcome is poor

[Choroid plexus tumours in childhood: Experience in Sant Joan de Déu hospital]. / Tumores de plexo coroideo en la infancia: experiencia en el hospital Sant Joan de Déu.

Choroid plexus tumours are rare, with a peak incidence in the first two years of life. The most common location is the lateral ventricle in children, while in adults it is the fourth ventricle. The most common clinical manifestation is the signs and symptoms of intracranial hypertension. They are histologically classified as plexus papilloma, atypical plexus papilloma, and plexus carcinoma. A review is presented on choroid plexus tumours treated in the Hospital Sant Joan de Déu between 1980 and 2014. A total of 18 patients have been treated. An analysis was made of the demographic, clinical, histological data, treatment, and recurrences. The treatment of choice is complete resection, accompanied by adjuvant therapy in carcinomas. In atypical papillomas, the use of adjuvant therapies is controversial, reserving radiation therapy for recurrences. Papillomas have a good outcome, whereas atypical papillomas and carcinomas outcome is poor.

Epidemiología y clasificación de los quistes aracnoideos en niños / Epidemiology and classification of arachnoid cysts in children

La prevalencia de los quistes aracnoideos en niños es del 1-3%. Son más frecuentes en el sexo masculino. Pueden localizarse tanto en el espacio intracraneal como a nivel espinal. Los intracraneales se clasifican en supratentoriales, infratentoriales y supra-infratentoriales. Los supratentoriales se subclasifican en de fosa media, hemisféricos de la convexidad, interhemisféricos, de la región selar e intraventriculares. Los infratentoriales se subdividen a su vez en supracerebelosos, infracerebelosos, hemisféricos, clivales y de ángulo pontocerebeloso. Por último, los espinales se clasifican según su localización extra o intradural y su afectación de raíces nerviosas

The prevalence of arachnoid cysts in children is 1-3%. They are more frequent in boys. They can be located intracranially or in the spine. Intracranial cysts are classified as supratentorial, infratentorial, and supra-infratentorial (tentorial notch). Supratentorial are divided into middle cranial fossa, convexity, inter-hemisferic, sellar region, and intraventricular. Infratentorial are classified into supracerebellar, infracerebellar, hemispheric, clivus, and cerebellopontine angle. Finally spinal arachnoid cysts are classified taking into account whether they are extra- or intradural, and nerve root involvement

Low-grade gliomas in children: single institutional experience in 198 cases.

INTRODUCTION: In pediatric population (0-18 years), low-grade gliomas (PLGG) are the most frequent brain tumors and majority are amenable for surgical removal. PATIENTS AND METHODS: A retrospective review of 198 children diagnosed with PLGG between 1980 and 2010 at HSJD was carried out. Several variables were studied to find prognostic factors related to the outcomes (progression-free survival (PFS) and overall survival (OS)). RESULTS: Median age at onset was 88.8 months (3.1 to 214.5 months, SD 53). Surgery was performed in 175 patients (88.4%), achieving gross total resection (GTR) in 77 (44%), subtotal resection (STR) in 87 (49.7%), and 11 (6.3%) biopsies. Pathological review classified 84 tumors as WHO grade I (48%) and 89 as grade II (50.8%). Adjuvant therapy (AT) was given to 75 patients (37.9%), radiotherapy in 24 (12.1%), chemotherapy in 33 (16.7%), and combined in 18 (9.1%). Sixteen patients (8.1%) died, 89 (43.4%) are alive with no evidence of disease, and 93 (47%) alive with disease, median follow-up 65.2 months. Outcome is significantly correlated with age (p = 0001, worse OS for patients younger than 12 months) and extent of tumor resection (p < 0001). OS for GTR/STR/biopsy was >200, 154.3, and 101.9 months, respectively. Patients treated with AT presented worse OS/PFS (p < 0.001) than those not treated. Histology was non significantly related to outcomes. CONCLUSION: In our series of PLGG, the best prognostic markers are tumor location (cerebellar) and the extent of tumor resection (GTR). Infants and patients who require adjuvant therapy because of tumor progression or recurrence have worse outcome.

[Epidemiology and classification of arachnoid cysts in children]. / Epidemiología y clasificación de los quistes aracnoideos en niños.

The prevalence of arachnoid cysts in children is 1-3%. They are more frequent in boys. They can be located intracranially or in the spine. Intracranial cysts are classified as supratentorial, infratentorial, and supra-infratentorial (tentorial notch). Supratentorial are divided into middle cranial fossa, convexity, inter-hemisferic, sellar region, and intraventricular. Infratentorial are classified into supracerebellar, infracerebellar, hemispheric, clivus, and cerebellopontine angle. Finally spinal arachnoid cysts are classified taking into account whether they are extra- or intradural, and nerve root involvement.

Clinical Role of Subtraction Ictal SPECT Coregistered to MR Imaging and (18)F-FDG PET in Pediatric Epilepsy.

UNLABELLED: A precise assessment of the drug-resistant epileptic pediatric population for surgical candidacy is often challenging, and to date there are no evidence-based guidelines for presurgical identification of the epileptogenic zone. To evaluate the usefulness of radionuclide imaging techniques for presurgical evaluation of epileptic pediatric patients, we compared the results of video-electroencephalography (EEG), brain MR imaging, interictal SPECT, ictal SPECT, subtraction ictal SPECT coregistered to MR imaging (SISCOM), and interictal PET with (18)F-FDG. METHODS: Fifty-four children with drug-resistant epilepsy who had undergone video-EEG monitoring, brain MR imaging, interictal and ictal brain perfusion SPECT, SISCOM, and (18)F-FDG PET were included in this study. All abnormal findings revealed by these neuroimaging techniques were compared with the presumed location of the epileptogenic zone (PEZ) as determined by video-EEG and clinical data. The proportion of localizing studies for each technique was statistically compared. In the 18 patients who underwent resective brain surgery, neuroimaging results were compared with histopathology results and surgical outcome. RESULTS: SISCOM and (18)F-FDG PET concordance with the PEZ was significantly higher than MR imaging (P < 0.05). MR imaging showed localizing results in 21 of 54 cases (39%), SISCOM in 36 of 54 cases (67%), and (18)F-FDG PET in 31 of 54 cases (57%). If we consider SISCOM and (18)F-FDG PET results together, nuclear medicine imaging techniques showed coinciding video-EEG results in 76% of patients (41/54). In those cases in which MR imaging failed to identify any epileptogenic lesion (61% [33/54]), SISCOM or (18)F-FDG PET findings matched PEZ in 67% (22/33) of cases. CONCLUSION: SISCOM and (18)F-FDG PET provide complementary presurgical information that matched video-EEG results and clinical data in three fourths of our sample. SISCOM was particularly useful in those cases in which MR imaging findings were abnormal but no epileptogenic lesion was identified. Radionuclide imaging techniques are both useful and reliable, extending the possibility of surgical treatment to patients who may have been discouraged without a nuclear medicine approach.

Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.

BACKGROUND: fibroblast growth factor receptor (FGFR) -related craniosynostosis syndromes are caused by many different mutations within FGFR-1, 2, 3, and certain FGFR mutations are associated with more than one clinical syndrome. These syndromes share coronal craniosynostosis and characteristic facial skeletal features, although Apert syndrome (AS) is characterized by a more dysmorphic facial skeleton relative to Crouzon (CS), Muenke (MS), or Pfeiffer syndromes. METHODS: Here we perform a detailed three-dimensional evaluation of facial skeletal shape in a retrospective sample of cases clinically and/or genetically diagnosed as AS, CS, MS, and Pfeiffer syndrome to quantify variation in facial dysmorphology, precisely identify specific facial features pertaining to these four syndromes, and further elucidate what knowledge of the causative FGFR mutation brings to our understanding of these syndromes. RESULTS: Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2(S252W) to Apert FGFR2(P253R) to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF. CONCLUSION: Our quantitative analysis of facial phenotypes demonstrate subtle variation within and among craniosynostosis syndromes that might, with further research, provide information about the impact of the mutation on facial skeletal and nonskeletal development. We suggest that precise studies of the phenotypic consequences of genetic mutations at many levels of analysis should accompany next-generation genetic research and that these approaches should proceed cooperatively.

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy.

For most lysosomal storage diseases (LSDs) affecting the CNS, there is currently no cure. The BBB, which limits the bioavailability of drugs administered systemically, and the short half-life of lysosomal enzymes, hamper the development of effective therapies. Mucopolysaccharidosis type IIIA (MPS IIIA) is an autosomic recessive LSD caused by a deficiency in sulfamidase, a sulfatase involved in the stepwise degradation of glycosaminoglycan (GAG) heparan sulfate. Here, we demonstrate that intracerebrospinal fluid (intra-CSF) administration of serotype 9 adenoassociated viral vectors (AAV9s) encoding sulfamidase corrects both CNS and somatic pathology in MPS IIIA mice. Following vector administration, enzymatic activity increased throughout the brain and in serum, leading to whole body correction of GAG accumulation and lysosomal pathology, normalization of behavioral deficits, and prolonged survival. To test this strategy in a larger animal, we treated beagle dogs using intracisternal or intracerebroventricular delivery. Administration of sulfamidase-encoding AAV9 resulted in transgenic expression throughout the CNS and liver and increased sulfamidase activity in CSF. High-titer serum antibodies against AAV9 only partially blocked CSF-mediated gene transfer to the brains of dogs. Consistently, anti-AAV antibody titers were lower in CSF than in serum collected from healthy and MPS IIIA-affected children. These results support the clinical translation of this approach for the treatment of MPS IIIA and other LSDs with CNS involvement.

Pituitary dysfunction after traumatic brain injury in children: is there a need for ongoing endocrine assessment?

BACKGROUND: Hypopituitarism has been widely described in adults after traumatic brain injury (TBI); however, the available data in paediatric populations are scarce. Here, we report the results of a prospective, long-term study in children, adolescents and young adults. STUDY GROUP: Thirty-seven children (age, 2 months to 19·9 years) of 51 eligible patients were followed for 1 year. Clinical and baseline endocrine variables were assessed in all 3 and 12 months after TBI; children ≥ 6 years underwent two stimulation tests (glucagon stimulation and megatest). RESULTS: In the group ≥6 years, 11 of 23 patients (47·8%) had a subnormal GH peak 3 months after TBI that persisted in 8 of 23 patients (34%) after 1 year. The GH response showed no correlation with injury severity (GCS, Marshall classification). Growth velocity was normal in all patients, except for one. Body mass index (BMI) SDS increased significantly in the group with low GH response. A suboptimal cortisol was observed in 10 of 23 subjects, which normalized in all but three, 1 year thereafter. All patients but one showed a pubertal response to GnRH testing. No clinical or hormonal abnormalities were detectable in children <6 years. CONCLUSION: Our results recommend to prospectively follow children after TBI: firstly, because the impairment of pituitary function cannot be predicted, and secondly, to avoid the potential consequences of pituitary dysfunction. Prospective clinical trials are needed before recommending a systematic screening after TBI and/or GH therapy either in postpubertal children or in prepubertal children who grow normally.

Brain stem tumors in children and adolescents: single institutional experience.

PURPOSE: Pediatric brain stem tumors (BsT) are a heterogeneous group of diseases. Our aim was to analyze our experience to find out prognostic factors. METHOD: A retrospective study with BsT patients was performed. Imaging characteristics, extension of surgery, pathology, and adjuvant therapy were analyzed and correlated with overall survival (OS) and progression-free survival (PFS) as outcome measures. RESULT: Since 1980 to 2010, we analyzed 65 BsT patients, 41 of them girls (63%), median age of 8 years (range 13.9 months to 17.6 years). Twenty-two patients (33.8%) had diffuse intrinsic pontine gliomas (DIPG) and 43 (66.2%) presented with focal BsT. Histology was available in 42 patients; the most frequent is low-grade glioma in 24/42 patients (57%). DIPG's histology (obtained usually at necropsy) confirmed five high-grade gliomas. After median follow-up of 49.3 months (0.5-175 months), 20/22 DIPG patients have died (90.9%), while 27/43 with focal tumors were alive (62.8%). Variables related to outcome were histology (better for low-grade glioma (LGG) OS p < 0.001), surgery (better if operated OS p < 0.001), and adjuvant therapy (worse if given, PFS p = 0.001, OS p = 0.024). The outcome for DIPG was dismal, median OS/EFS of 14.2/9.4 months, significantly worse than focal BsT (p = 0.000), while OS/EFS was 122.8/87.2 months for focal intrinsic, 88.2/47.1 months for exophytic, and 124.4/54 months for cervico-medullary tumors: no differences were found among them, except the histology (OS p < 0.001 for low-grade vs high-grade tumors). CONCLUSION: BsT in children comprised two different groups: diffuse (DIPG) and focal gliomas. The DIPGs continue having a dismal prognosis, needing new approaches, while focal tumors including LGG have better prognosis.

Plexopapiloma metastásico en la edad pediátrica: caso clínico y revisión de la bibliografía / Metastatic plexus papilloma in the paediatric age: a case report and review of the literature

Introducción. Los tumores del plexo coroideo son tumores poco frecuentes, con un pico de incidencia en los primeros años de vida. Clínicamente suelen producir hipertensión intracraneal. Histológicamente se dividen en papilomas y carcinomas. Es rara la existencia de metástasis en los papilomas. Caso clínico. Niña de 11 años con lesión intracraneal en el IV ventrículo y lesión intradural sacra. Se practica craneotomía suboccipital con resección total de la lesión ventricular, y en un segundo tiempo exéresis parcial de la lesión espinal. El estudio histológico determina el diagnóstico de papiloma típico del plexo coroideo en la lesión intracraneal y de metástasisde papiloma del plexo coroideo en la lesión espinal. Al revisar la bibliografía, se comprueba que en la edad pediátrica es muy raro encontrar papilomas del plexo coroideo con lesiones metastásicas. No existe consenso en el tratamiento de las metástasis de plexopapilomas en la edad pediátrica, adoptándose una conducta expectante en dos casos y tratamiento quirúrgico mediante laminectomía en otro. Conclusiones. Los papilomas del plexo coroideo son lesiones raras, benignas y con buen pronóstico. Es poco frecuente la existencia de metástasis. El tratamiento de elección es la resección total de la lesión. Para el tratamiento de las metástasis no hay evidencias de cuál es la mejor actitud, y se han propuesto distintas alternativas (AU)

Introduction. Tumours of the choroid plexus are uncommon, with a peak incidence in the early years of life. Clinically they usually produce intracranial hypertension. Histologically, they can be divided into papillomas and carcinomas. Metastasis rarely occurs in the case of papillomas. Case report. An 11-year-old female with an intracranial lesion in the 4th ventricle and a sacral intradural lesion. A suboccipital craniotomy with total resection of the ventricular lesion was performed and this was followed later by partial exeresis of the spinal lesion. The histological study provides the diagnosis of typical choroid plexus papilloma in the intracranial lesion and choroid plexus papilloma metastasis in the spinal lesion. A review of the literature showed that choroid plexus papillomas with metastatic lesions are very rarely found at the paediatric age. There is no general agreement on the treatment of plexus papilloma metastasis at the paediatric age, expectant management being adopted in two cases and surgical treatment involving a laminectomy in the other. Conclusions. Choroid plexus papillomas are rare, benign lesions with a good prognosis. Metastasis seldom exists. Preferred treatment is total resection of the lesion. For the treatment of metastases, there is no evidence as to which is the best approach and different alternatives have been suggested (AU)

[Metastatic plexus papilloma in the paediatric age: a case report and review of the literature]. / Plexopapiloma metástasico en la edad pediátrica: caso clínico y revisión de la bibliografía.

INTRODUCTION: Tumours of the choroid plexus are uncommon, with a peak incidence in the early years of life. Clinically they usually produce intracranial hypertension. Histologically, they can be divided into papillomas and carcinomas. Metastasis rarely occurs in the case of papillomas. CASE REPORT: An 11-year-old female with an intracranial lesion in the 4th ventricle and a sacral intradural lesion. A sub-occipital craniotomy with total resection of the ventricular lesion was performed and this was followed later by partial exeresis of the spinal lesion. The histological study provides the diagnosis of typical choroid plexus papilloma in the intracranial lesion and choroid plexus papilloma metastasis in the spinal lesion. A review of the literature showed that choroid plexus papillomas with metastatic lesions are very rarely found at the paediatric age. There is no general agreement on the treatment of plexus papilloma metastasis at the paediatric age, expectant management being adopted in two cases and surgical treatment involving a laminectomy in the other. CONCLUSIONS: Choroid plexus papillomas are rare, benign lesions with a good prognosis. Metastasis seldom exists. Preferred treatment is total resection of the lesion. For the treatment of metastases, there is no evidence as to which is the best approach and different alternatives have been suggested.

[Five years' experience in a paediatric epilepsy unit]. / Experiencia de cinco años en una unidad de epilepsia pediátrica.

INTRODUCTION AND AIMS: The epilepsy monitoring unit is a space inside a hospital, which objective is to reproduce epileptic seizures in order to better study of an epileptic patient. We have analysed data from all the patients admitted to our pediatric epilepsy unit in the last 5 years. PATIENTS AND METHODS: 191 patients have been admitted in our unit, and we have obtained seizures in 186 admissions (monitoring efficacy, 85.9%). In this report we summarize characteristics of these children, type of seizures and treatment. RESULTS: The most frequent cause of epilepsy in our series is cortical development malformation. Patients are often late in their admission, with a median time of 3 to 4 years from epileptic onset to admission in the epilepsy unit. After the study, 22 patients underwent functional epilepsy surgery, all of them with excellent results, 9 patients underwent vagal nerve stimulator implantation and in 66 patients their previous pharmacological treatment was modified. CONCLUSIONS: The efficacy of our monitoring unit is similar to previously published, 85.9%. After the admission, we have changed diagnose in 57% of the patients and pharmacological treatment in 29%. We recommend the study in a monitoring epilepsy unit of every patient with refractory epilepsy, meaning an epilepsy that does not respond to 2-3 different appropriate treatments.

Experiencia de cinco años en una unidad de epilepsia pediátrica / Five years’ experience in a paediatric epilepsy unit

Introducción y objetivos. La unidad de monitorización continua videoelectroencefalográfica (video-EEG) es una zona dentro del ámbito hospitalario cuyo objetivo es intentar reproducir el mayor número de crisis en un paciente para su estudio. Hemos realizado un análisis de los datos de los pacientes ingresados en los últimos cinco años en nuestra unidad de epilepsia pediátrica. Pacientes y métodos. En total han ingresado 191 pacientes, obteniéndose crisis en 186 (eficacia de la monitorización del 85,9%). En este estudio se resumen las características de estos niños, del tipo de crisis que presentaron y de su tratamiento. Resultados. La causa más frecuente de epilepsia en nuestros niños han sido las malformaciones del desarrollo cortical. Los pacientes tardaron un promedio de 3-4 años desde el inicio de la epilepsia hasta el ingreso en la unidad. Tras el ingreso, 22 pacientes fueron sometidos a cirugía funcional de la epilepsia, con resultados excelentes, a nueve niños se les implantó un estimulador del nervio vago y a 66 se les modificó el tratamiento médico previo, con mejoría significativa de su clínica y su calidad de vida. Conclusiones. La eficacia de la monitorización en nuestra unidad es similar a estudios previos publicados, del 85,9%. Tras el ingreso, hemos modificado el diagnóstico en un 57% y el tratamiento médico en un 29%. Aún tardamos mucho tiempo en ingresar a un paciente en la unidad de monitorización. Recomendamos el estudio en una unidad de monitorización continua video-EEG a todo paciente con epilepsia farmacorresistente, considerada como aquélla que no responde tras dos o tres tratamientos antiepilépticos adecuados (AU)

Introduction and aims. The epilepsy monitoring unit is a space inside a hospital, which objective is to reproduce epileptic seizures in order to better study of an epileptic patient. We have analysed data from all the patients admitted to our pediatric epilepsy unit in the last 5 years. Patients and methods. 191 patients have been admitted in our unit, and we have obtained seizures in 186 admissions (monitoring efficacy, 85.9%). In this report we summarize characteristics of these children, type of seizures and treatment. Results. The most frequent cause of epilepsy in our series is cortical development malformation. Patients are often late in their admission, with a median time of 3 to 4 years from epileptic onset to admission in the epilepsy unit. After the study,22 patients underwent functional epilepsy surgery, all of them with excellent results, 9 patients underwent vagal nerve stimulator implantation and in 66 patients their previous pharmacological treatment was modified. Conclusions. The efficacy of our monitoring unit is similar to previously published, 85.9%. After the admission, we have changed diagnose in 57% of the patients and pharmacological treatment in 29%. We recommend the study in a monitoring epilepsy unit of every patient with refractory epilepsy, meaning an epilepsy that does not respond to 2-3 different appropriate treatment (AU)

Macrocefalia progresiva / Pregressive macrocephaly

Presentamos el caso de un niño de once meses remitido a nuestroServicio de Urgencias por irritabilidad y cambio de carácter, coincidiendocon aumento progresivo del perímetro craneal (PC).En urgencias se constata macrocefalia y se objetiva una fontanelaanterior amplia y a tensión. Se orienta clínicamente como síndromede hipertensión endocraneal y se realiza una tomografíacomputarizada (TC) craneal de urgencia. Es diagnosticado de hematomasubdural crónico e ingresa para tratamiento neuroquirúrgicourgente colocándosele un drenaje subdural externo con loque presenta mejoría clínica.La macrocefalia progresiva es el signo más característico de hipertensiónendocraneal durante el primer año de vida. Una causade hipertensión endocraneal y macrocefalia secundaria es elefecto masa que puede ocasionar una colección subdural, comoMacrocefàlia progressivaRosa Gil Aparicio, Victòria Trenchs Sainz de la Maza, Fernando D. Panzino Occhiuzzo, JosepBlanch Giménez 1, Gemma Garcia Fructuoso 2, Carles Luaces Cubells, Jordi Pou FernándezSecció d'Urgències. Servei de Pediatria. 1 Servei de Radiologia.2 Servei de Neurocirurgia. Hospital Universitari Sant Joan de Déu.Barcelona.en nuestro caso. Ésta es una entidad muy poco frecuente en la infancia,y, sin enfermedades predisponentes, siempre hemos deconsiderar el maltrato como posible causa y valorar medidasdesde urgencias(AU)

We present the case of an eleven month-old infant who presentedto our emergency department with irritability, behavioral changes,and a progressive increase in cranial circumference. On physicalexamination, macrocephaly was documented, and the anteriorfontanel was noted to be wide and tense. With the clinicaldiagnosis of intracranial hypertension and emergency computedtomography was performed, which revealed a chronic subduralhematoma. The patient was admitted for urgent neurosurgical intervention;an external subdural drain was placed, with immediateclinical improvement.A progressive macrocephaly is the most characteristic sign of intracranialhypertension during the first year of life. A cause of intracranialhypertension and secondary macrocephaly is the masseffect originated by a subdural fluid collection, as in the case underdiscussion. This entity is very rare during infancy and, in theabsence of predisposing conditions, child abuse should be alwaysconsidered, and the appropriate steps for diagnosis and treatmentshould be started in the emergency department(AU)