Síndrome de Crouzon: a propósito de 2 casos. Entidades craneoestenóticas alélicas de los genes FGFR / Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes

Introducción: La craneosinostosis consiste en una fusión patológica precoz de una o varias suturas craneales. El 20% de los casos corresponde a formas sindrómicas con patrones hereditarios mendelianos, mientras que el 80% restante a formas no sindrómicas, pero con transmisión hereditaria en el 10-14% de los casos. A propósito de 2 pacientes con síndrome de Crouzon, se revisan los aspectos clínicos y genéticos. Pacientes y métodos: Paciente 1: niña de 35 días con macrocefalia progresiva, abombamiento de la fontanela, proptosis ocular, hipertelorismo y estrabismo divergente. Rx de cráneo con sinostosis de la sutura sagital. Fue intervenida quirúrgicamente a los 3 y 8 meses por desarrollo de pansinostosis. Paciente 2: niño de 3 años 8 meses con cefaleas de tipo migrañoso de un año de evolución. Presentaba acantosis nigricans. Rx de cráneo y TC craneal con impresiones digitales y fondo de ojo con discreto borramiento papilar. Tras 18 meses apareció edema de papila y en la TC craneal se detectó pansinostosis, requiriendo intervención quirúrgica. Resultados: Hemos presentado un paciente con síndrome de Crouzon clásico (paciente 1) y otro con acantosis nigricans (paciente 2), diagnosticándose por su particular fenotipo clínico. Conclusiones: Dada la amplia diversidad de formas alélicas en los genes FGFR que cursan con craneosinostosis, conociéndose hasta 10 entidades, realizamos una revisión de las mismas. En las formas sindrómicas, como nuestros 2 casos, conviene detallar al máximo los signos clínicos pues pueden orientar el diagnóstico, y el estudio molecular permitirá en ocasiones confirmarlo y ofrecer asesoramiento genético a las familias(AU)

Introduction: Craniosynostosis is an abnormal and premature fusion of any cranial suture. Twenty per cent of them involve any specific syndrome with Mendelian transmission; the other 80% are "non syndromic", although but 10-14% of them are genetically transmitted. Using the experience of two patients with Crouzon syndrome, a clinical and genetic review is performed. Patients and methods: Patient 1: girl of 35 days of age with progressive macrocephaly, protrusion of fontanel, ocular proptosis, hypertelorism and divergent strabismus. Cranial RX with sagittal synostosis. Surgical operation was performed with 3 months and 8 months of age due to development of pansynostosis. Patient 2: boy of 3 years 8 months of age with headaches of migrainous type of one year onset. He had acanthosis nigricans. Cranial RX and cerebral CT with evident digital markings and fundus of eye with undefined papillary limits, but 18 month later oedematous papilla were evident and pansynostosis was detected, so surgery was performed. Results: We present a patient with classical Crouzon syndrome (patient 1) and another with acanthosis nigricans (patient 2), both diagnosed by the description of characteristic clinical features. Conclusions: Ten craniosynostotic clinical forms are currently known as allelic variations of the FGFR genes, and as such have reviewed them. As in our two cases, in syndromic types is very important the accurate study of the phenotype to orientate the diagnosis, although the molecular study will confirm it in many patients and genetic counselling offered(AU)

[Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes]. / Síndrome de Crouzon: a propósito de 2 casos. Entidades craneoestenóticas alélicas de los genes FGFR.

INTRODUCTION: Craniosynostosis is an abnormal and premature fusion of any cranial suture. Twenty per cent of them involve any specific syndrome with Mendelian transmission; the other 80% are "non syndromic", although but 10-14% of them are genetically transmitted. Using the experience of two patients with Crouzon syndrome, a clinical and genetic review is performed. PATIENTS AND METHODS: Patient 1: girl of 35 days of age with progressive macrocephaly, protrusion of fontanel, ocular proptosis, hypertelorism and divergent strabismus. Cranial RX with sagittal synostosis. Surgical operation was performed with 3 months and 8 months of age due to development of pansynostosis. Patient 2: boy of 3 years 8 months of age with headaches of migrainous type of one year onset. He had acanthosis nigricans. Cranial RX and cerebral CT with evident digital markings and fundus of eye with undefined papillary limits, but 18 month later oedematous papilla were evident and pansynostosis was detected, so surgery was performed. RESULTS: We present a patient with classical Crouzon syndrome (patient 1) and another with acanthosis nigricans (patient 2), both diagnosed by the description of characteristic clinical features. CONCLUSIONS: Ten craniosynostotic clinical forms are currently known as allelic variations of the FGFR genes, and as such have reviewed them. As in our two cases, in syndromic types is very important the accurate study of the phenotype to orientate the diagnosis, although the molecular study will confirm it in many patients and genetic counselling offered.

[Meduloblastoma: infrequent onset in local recurrence]. / Meduloblastoma: una presentación infrecuente en la recurrencia local.

INTRODUCTION. Meduloblastoma is high potential to recur and spread tumour. CASE REPORT. One case posterior fosse meduloblas toma in six years old boy who received 3 surgeries, chemotherapy and radiotherapy, with local recurrence and extracranial extension into neck laterocervical musculature. CONCLUSION. Although meduloblastoma extraneural metastases are not isolated phenomenon, meduloblastoma extracraneal extension is uncommon phenomenon in local recurrence.

Meduloblastoma: una presentación infrecuente en la recurrencia local / Meduloblastoma: infrequent onset in local recurrence

Introducción. El meduloblastoma es un tumor con un elevado potencial de recurrir y de metastatizar.Caso clínico. Presentación de un caso de meduloblastoma de fosa posterior en un niño de 6 años intervenido en 3 ocasiones y tratado con quimioterapia y radioterapia con una recurrencia local que se extendía extracranealmente a nivel de la musculatura laterocervical del cuello.Conclusión. Aunque las metástasis extracraneales del meduloblastoma no es un fenómeno aislado, la extensión extracraneal del meduloblastoma es un fenó-meno poco frecuente en la recurrencia local (AU)

Introduction. Meduloblastoma is high potential to recur and spread tumour.Case report. One case posterior fosse meduloblastoma in six years old boy who received 3 surgeries, chemotherapy and radiotherapy, with local recurrence and extracranial extension into neck laterocervical musculature.Conclusion. Although meduloblastoma extraneural metastases are not isolated phenomenon, meduloblastoma extracraneal extension is uncommon phenomenon in local recurrence (AU)

[Occult anterior sacral meningocele]. / Meningocele sacro anterior oculto.

BACKGROUND: The anterior sacral meningocele is a rare form of spinal dysraphism located in the presacral extraperitoneal space. It is generally asymptomatic and appears as a small pelvic mass. CASE DESCRIPTION: We present a case of a 10 year-old male that develops a bacteria meningitis because of a pararectal abscess that is connected with an anterior sacral meningocele. We successfully treated it using a posterior approach. CONCLUSION: The aim of the surgery is to repair the dural defect and to obliterate the communication between the thecal sac and the herniation defect. The posterior approach is the simplest and most effective surgical technique because the lower risk of neurological injury than the anterior approach.

Meningocele sacro anterior oculto / Occult anterior sacral meningocele

Introducción. El meningocele sacro anterior es una rara forma de disrafismo espinal, localizado en el espacio presacro extraperitoneal. Generalmente es asintomático y suele presentarse como una pequeña masa pélvica. Caso clínico. Presentamos el caso de un niño de 10 años de edad que desarrolla una meningitis bacteriana consecuencia de un absceso pararectal que se comunica con una cavidad meningocélica sacra anterior. Recibe tratamiento quirúrgico realizándose con éxito un abor­daje posterior. Conclusión. La finalidad de la cirugía es reparar el defecto dural y obliterar la comunicación existente entre el saco tecal y el defecto herniario. El abordaje posterior es la técnica quirúrgica más efectiva puesto que tiene menor riesgo de daño neurológico que el abor­daje anterior (AU)

Background. The anterior sacral meningocele is a rare form of spinal dysraphism located in the presacral extraperitoneal space. It is generally asymptomatic and appears as a small pelvic mass. Case description. We present a case of a 10 year-old male that developes a bacteria meningitis because of a pararectal abscess that is connected with an anterior sacral meningocele. We successfully treated it using a posterior approach. Conclusion. The aim of the surgery is to repair the dural defect and to obliterate the communication between the thecal sac and the herniation defect. The posterior approach is the simplest and most effective surgical technique because the lower risk of neurologi­cal injury than the anterior approach (AU)

[Intracranial tuberculoma: a case report and review of the literature]. / Tuberculoma intracraneal: caso clínico y revisión de la bibliografía.

INTRODUCTION: Cerebral tuberculoma constitutes an important neurotuberculosis clinical form with high morbimortality and important diagnoses difficulty. CASE REPORT: Only giant cerebral tuberculoma case in 3 years-old man who present dizziness and surgically treated by diagnostic suspicion of cerebral tumor. CONCLUSION: Cerebral tuberculomas can often be confused with cerebral tumors when they are not included in differential diagnosis.

Tuberculoma intracraneal: caso clínico y revisión de la bibliografía / Intracranial tuberculoma: A case report and review of the literature

Introducción. El tuberculoma cerebral constituye una forma clínica importante de neurotuberculosis con una elevada morbimortalidad y una notable dificultad diagnóstica. Caso clínico. Único caso de tuberculoma cerebral gigante en un niño de 3 años, que comenzó con crisis epiléptica y se trató quirúrgicamente por sospecha diagnóstica de tumor cerebral. Conclusión. Los tuberculomas cerebrales pueden confundirse muchas veces con tumores cerebrales cuando no se incluyen enel diagnóstico diferencial

Introduction. Cerebral tuberculoma constitutes an important neurotuberculosis clinical form with high morbimortality and important diagnoses difficulty. Case report. Only giant cerebral tuberculoma case in 3 years-old man who present dizziness and surgically treated by diagnostic suspicion of cerebral tumor. Conclusion. Cerebral tuberculomas can often be confused with cerebral tumors when they are not included in differential diagnosis

[Sinus pericranii. A case report]. / Sinus pericranii. A propósito de un caso.

INTRODUCTION: Sinus pericranii is an unusual vascular anomaly characterised by communication between diploic and epicranial veins and a dural sinus. It is therefore an abnormal communication between the intracranial and extracranial circulatory systems. CASE REPORT: We report a case of sinus pericranii in an 8-month-old boy, with typical clinical and radiological manifestations. CONCLUSIONS: Sinus pericranii is a rare condition in paediatric pathology, which is generally asymptomatic and is usually found in the area of the anterior fontanelle. The fundamental diagnostic method is magnetic resonance imaging of the brain with and without contrast; surgery is the preferred treatment, although rare cases of spontaneous thrombosis have been reported.

Sinus pericranii. A propósito de un caso / Sinus pericranii, A case report

Introducción. El sinus pericranii es una anomalía vascular poco frecuente consistente en una comunicación entre un seno dural y las venas diploicas y epicraneales. Es pues una comunicación anómala entre la circulación intra y extracraneal.Caso clínico. Presentamos un caso de sinus pericranii en un niño de 8 meses, con unas típicas manifestaciones clínicas y radiológicas. Conclusiones. El sinus pericranii es una entidad poco frecuente en la patología pediátrica, que cursa generalmente asintomática, cuya localización suele ser en el sector de la fontanela anterior. El método diagnóstico fundamental es la resonancia magnética cerebral con y sin contraste, siendo su tratamiento de elección el quirúrgico, aunque se ha descrito enraros casos su trombosis espontanea

Introduction. Sinus pericranii is an unusual vascular anomaly characterised by communication between diploicand epicranial veins and a dural sinus. It is therefore an abnormal communication between the intracranial and extracranial circulatory systems. Case report. We report a case of sinus pericranii in an 8-month-old boy, with typical clinical and radiological manifestations. Conclusions. Sinus pericranii is a rare condition in paediatric pathology, which is generally asymptomatic and is usually found in the area of the anterior fontanelle. The fundamental diagnostic method is magneticresonance imaging of the brain with and without contrast; surgery is the preferred treatment, although rare cases of spontaneous thrombosis have been reported

[Optic pathway astrocytoma: an unusual cause of failure to thrive in infants]. / Astrocitoma de vías ópticas: una causa infrecuente de retraso ponderal en el lactante.

Failure to thrive is a frequent cause of consultation in pediatric services. The main objective in these patients is the early detection of an organic cause, if present. We report a case of low-grade astrocytoma of the optic pathway in a 2-month-old child whose main symptoms at diagnosis were failure to thrive and anorexia. Unfortunately, despite therapeutic efforts, the tumor showed local and metastatic progression refractory to chemotherapy. The patient died 3 months after diagnosis. We conclude that diencephalic tumors must be considered in the differential diagnosis of failure to thrive during the first year of life, especially when, after initial investigations, a cause is not found.

[Mediastinal lipoblastoma with intramedullary extension]. / Lipoblastoma mediastínico con extensión intramedular.

INTRODUCTION: Lipoblastomatous lesions are mesenchymal tumors of fetal-embryonal fat that are classified into two types: a superficial, well-defined mass (lipoblastoma) or an infiltrative lesion (lipoblastomatosis). CASE REPORT: An unique case of mediastinal lipoblastoma in a 27-month-old boy with spinal epidural extension from C7-D9, clinically manifested as a progressive painful. CONCLUSION: The treatment of choice is the complete excision, with high risk of recurrence, suggesting a periodical clinical evaluation with neuroimaging studies.

Astrocitoma de vías ópticas: una causa infrecuente de retraso ponderal en el lactante / Optic pathway astrocytoma: an unusual cause of failure to thrive in infants

El retraso ponderal durante la lactancia es un motivo de consulta frecuente en los servicios de pediatría. El principal objetivo a la hora de abordar estos casos radica en distinguir aquellos casos secundarios a una causa orgánica de forma precoz. Aportamos un caso de astrocitoma de bajo grado de vías ópticas en un lactante de 2 meses de edad cuyos síntomas guía en el momento del diagnóstico fueron retraso ponderal y rechazo del alimento. Desafortunadamente, a pesar de los esfuerzos terapéuticos, el tumor presentó una progresión local y metastásica refractaria al tratamiento quimioterápico. Finalmente la paciente falleció a los 3 meses del diagnóstico. Concluimos que los tumores diencefálicos deben contemplarse en el diagnóstico diferencial del fallo de medro durante el primer año de vida; principalmente en aquellos casos en los cuales, tras un estudio inicial, no se encuentra una causa aparente

Failure to thrive is a frequent cause of consultation in pediatric services. The main objective in these patients is the early detection of an organic cause, if present. We report a case of low-grade astrocytoma of the optic pathway in a 2-month-old child whose main symptoms at diagnosis were failure to thrive and anorexia. Unfortunately, despite therapeutic efforts, the tumor showed local and metastatic progression refractory to chemotherapy. The patient died 3 months after diagnosis. We conclude that diencephalic tumors must be considered in the differential diagnosis of failure to thrive during the first year of life, especially when, after initial investigations, a cause is not found

Lipoblastoma mediastínico con extensión intramedular / Mediastinal lipoblastoma with intramedullary extension

Introducción. Las lesiones lipoblastomatosas son tumores mesenquimales grasos fetoembrionarios que se clasifican en dos tipos, uno superficial como masa bien definida (lipoblastoma) y otro infiltrativo (lipoblastomatosis). Caso clínico. Caso único de lipoblastoma mediastínico en un niño de 27 meses de edad con una extensión epidural intramedular desde C7 a D9, clínicamente manifestado por un dolor progresivo. Conclusión. El tratamiento de elección es el quirúrgico, aunque el porcentaje de recidivas es alto, por lo que se aconseja control seriado con resonancia magnética para el diagnóstico precoz de éstas

Introduction. Lipoblastomatous lesions are mesenchymal tumors of fetal-embryonal fat that are classified into two types: a superficial, well-defined mass (lipoblastoma) or an infiltrative lesion (lipoblastomatosis). Case report. An unique case of mediastinal lipoblastoma in a 27-month-old boy with spinal epidural extension from C7-D9, clinically manifested as a progressive painful. Conclusion. The treatment of choice is the complete excision, with high risk of recurrence, suggesting a periodical clinical evaluation with neuroimaging studies

Traumatismo craneoencefálico grave en el paciente pediátrico. Evaluación de la neuroimagen y monitorización de la presión intracraneal como factores pronóstico / Severe head injury among children: omputerised tomography evaluation and intracranial pressure monitoring as prognostic factors

Objetivo. Evaluación de la neuroimagen (mediante la escala del Traumatic Coma Data Bank) y de la presión intracraneal como factores pronóstico en pacientes pediátricos con traumatismo craneoencefálico grave. Material y método. Revisión de los pacientes ingresados en una unidad de cuidados intensivos pediátricos con traumatismo craneoencefálico grave y monitorización de la presión intracraneal entre enero de 1995 y junio de 1998. Resultados. De los 242 pacientes con traumatismo craneoencefálico ingresados en nuestra unidad, 64 precisaron monitorización de la presión intracraneal. La edad osciló entre 3 y 18 años. El patrón de neuroimagen más frecuente en la primera tomografía axial computarizada (TAC) es la lesión encefálica difusa (LED) II (43,8 por ciento) seguida de LED III (29,7 por ciento), VI (12,5 por ciento) y I (9,4 por ciento). Se ha encontrado la existencia de una asociación lineal entre los patrones de neuroimagen y los valores de presión intracraneal máxima y presión de perfusión cerebral mínima en las primeras 2 horas de monitorización. Estos parámetros se correlacionan con el pronóstico y se demuestra una relación directa entre la primera TAC y la evolución (p < 0,001). La mayoría de los pacientes (73,5 por ciento) tuvo una evolución favorable, sin secuelas (18,8 por ciento) o con trastornos psicológicos o motores menores. La mortalidad fue del 10,9 por ciento y el porcentaje de secuelas incapacitantes, del 15,6 por ciento. Conclusiones. La neuroimagen y monitorización de la presión intracraneal son fuertes predictores pronóstico del traumatismo craneoencefálico grave en el paciente pediátrico. El Traumatic Coma Data Bank permite una precoz identificación de los pacientes con riesgo elevado de hipertensión intracraneal también en edad pediátrica. La ausencia de enfermedad visible en la primera TAC no descarta la aparición de hipertensión endocraneal y está indicado monitorizar la presión intracraneal si la puntuación de Glasgow ha sido inferior o igual a ocho, incluso con una primera TAC normal (AU)

[Complications of cerebrospinal fluid shunt]. / Complicaciones de las válvulas de derivación de líquido cefalorraquídeo.

OBJECTIVE: The objective of this study was to know the incidence, mode of presentation, clinical and microbiological aspects, as well as the management of ventriculo-peritoneal shunt malfunction. PATIENTS AND METHODS: A retrospective study was carried out where thirty-seven children with malfunctioning shunts were studied. The mechanical causes of shunt malfunction included disconnection, fracture and obstruction, while infection was considered as either a clinical or analytical change (blood and/or CSF). RESULTS: The mean age of the patients was 5.5 years. The most common indication for the insertion of the ventriculoperitoneal shunt was congenital hydrocephalus. The average stay in the ICU was 8.2 days. Mechanical dysfunction was detected in 25 patients (68%) and infectious etiology in 12. The most common clinical manifestations were vomiting, fever and headache. CSF biochemical alteration was found in 8 of the infected group. Staphylococcus was isolated in six of the 8 cases. The ventriculoperitoneal shunt was changed during the first 24 hours in 17 of 25 patients (68%) with mechanical malfunction, while 11 cases with an infective cause (92%) were managed with an external shunt. The interval between the insertion of the ventriculoperitoneal shunt and the malfunction was over 6 months in 20 cases (54%). CONCLUSIONS: Ventriculoperitoneal shunts are the main method for treating hydrocephaly, although they are not without complications which may require surgical procedures. Appropriate surgical technique, asepsis, as well as prophylactic antibiotics are essential to decrease the incidence of complications.

[Epidural hematoma in children. Prognostic factors. Analysis of 70 cases]. / Hematoma epidural en niños. Factores pronósticos. Análisis de setenta casos.

OBJECTIVE: The aim of this study was to analyze the causes of epidural hematoma in order to know its incidence in craneoencephalic trauma and establish prognostic criteria. PATIENTS AND METHODS: A retrospective study of 70 children with the diagnosis of epidural hematoma between 1990 and 1995 were studied. Clinical, radiological, chronologic variables and evolution were analyzed. RESULTS: The diagnosis was made during the first 4 years in 63% of the cases. Neurologic impairment was present at admission in only 33% of the patients. Ages ranged between 7 days and 17 years (mean age: 8 years). Of these patients, 82% were admitted to the PICU, 53% were ventilated and 19% needed ICP monitorization. Radiological findings on the first CT were skull fracture (68%) and temporoparietal epidural hematoma (66%), right-sided (63%). Other kinds of lesions were also recorded in the first and subsequent CTs. Three patients died, 63% recovered fully, 10% had serious sequelae and 23% had some degree of neurodisability. CONCLUSIONS: The following data correlated with death or neurological impairment: Multiple cerebral contusion (p = 0.002), brain edema (p = 0.05), GCS less than 8 on admission (p = 0.002), and shock (p = 0.003). On the other hand, neither surgical drainage volume, age, location of the hematoma, nor ICP values correlated with a poor prognosis.

Traumatic extradural hematomas of the posterior fossa in children.

The most favorable type of traumatic intracranial bleeding in childhood is the extradural hemorrage (EDH). The posterior fossa location is less frequent than the supratentorial site. In the period from January 1989 to January 1994 we treated 2,372 patients with craniocerebral trauma; 31 had extradural hematomas (1.3%); 3 of them were located in the posterior fossa (9.7%): 1 boy and 2 girls aged from 6 to 16 years. The traumatic mechanism was an occipital fall in all cases. Diagnosis was made by computed tomography scan (CT). Two of them had a rapidly deteriorating course. The three patients were operated on without mortality and there was no morbidity. The role of CT in the early detection of lesions and prompt surgical evacuation may reduce the mortality and morbidity from this lesion. The interaction between these factors is discussed.