Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome.

Mucopolysaccharidosis type VI (MPS VI) is a progressive, autosomal, recessive lysosomal disorder. This disorder, due to a deficiency in N-acetylgalactosamine-4-sulfatase (ASB), results in an accumulation of glycosaminoglycan (GAG), causing multiple organ failures. In this study, monochorionic biamniotic twins with the severe form of MPS VI underwent enzyme replacement therapy (ERT) with weekly infusions of recombinant human ASB (galsulfase) at 1 mg/kg. After 9 years of ERT, a comprehensive clinical examination was performed. Several types of biochemical, immunological, and genetic investigations were also conducted. Both twins showed the typical symptoms and signs of MPS VI at baseline, including short stature, progressive dysmorphic facial features, and dysostosis multiplex. Twin 2 presented stronger multisystemic involvement, with marked musculoskeletal, neurological, and odontological components. She also developed an ischemic spinal cord lesion after surgery, which is the first case described in the literature in Maroteaux-Lamy syndrome. However, the extent of disease was found to be equally stabilized in the two sisters, concretely the cardiac and respiratory functions and body length. The early diagnosis and treatment of MPS VI are critical for an optimal clinical outcome, and further evidence for the new treatment strategies is needed.

Resultados de la colocación del estimulador del nervio vago en epilepsia y calidad de vida en un hospital pediátrico / Vagus nerve stimulator implantation for epilepsy in a paediatric hospital: outcomes and effect on quality of life

Introducción: La epilepsia es uno de los trastornos neurológicos más frecuentes de la infancia, presentándose en un 0,5-1%. Aproximadamente un 20-30% de los pacientes son farmacorresistentes. El objetivo de este trabajo es describir en 30 pacientes el impacto sobre las crisis y la calidad de vida del estimulador del nervio vago (ENV). Métodos: Se trata de un estudio descriptivo, retrospectivo, mediante revisión de las historias clínicas de todos los pacientes a quienes se les colocó el ENV entre el 2008 y 2013 en nuestro centro. La calidad de vida fue valorada mediante la escala de calidad de vida en el niño con epilepsia (CAVE), obtenida por medio de una entrevista telefónica. Resultados: Se incluyeron 19 niños (64%) y 11 niñas (36%) con una mediana de comienzo de las crisis de 21 meses (1-144 meses). La edad promedio de colocación del ENV fue de 11,89 años. El tiempo de seguimiento fue de 6-36 meses. A los 6 meses la reducción de las crisis en promedio fue del 38%, a los 12 meses del 43%, a los 24 meses del 42% y a los 36 meses del 54%. De todos los pacientes evaluados al menos un 50% se catalogaron como respondedores. Según la CAVE un 54% de las familias encontró el efecto del ENV como bueno o muy bueno y un 39% como regular. Conclusiones: El ENV es un tratamiento paliativo, generalmente bien tolerado, parcialmente efectivo para el control de la epilepsia refractaria en pediatría y con repercusiones positivas sobre la calidad de vida

Introduction: Epilepsy, which is present in 0.5% to 1% of the paediatric population, is one of the most frequent childhood neurological disorders. Approximately 20% to 30% of these cases will be drug-resistant. The objective of this study is to describe the impact of vagal nerve stimulation (VNS) on seizures and quality of life in a sample of 30 patients. Methods: Descriptive, retrospective study of all patients with a VNS device implanted between 2008 and 2013 in a single paediatric hospital, based on patients’ medical records. Quality of life was assessed using the Spanish scale for quality of life in children with epilepsy, completed by means of a telephone interview. Results: We describe a population of 19 boys (64%) and 11 girls (36%) with a mean age at seizure onset of 21 months (1-144 months). The mean age of VNS implantation was 11.89 years. Follow-up periods ranged from 6 to 36 months. Mean reduction in seizures at 6 months was 38%, with a reduction of 43% at 12 months, 42% at 24 months, and 54% at 36 months. At least half of all patients were classified as responders. According to the quality of life scale, 54% of the families rated the effect of VNS as either very good or good while 39% rated it as fair. Conclusions: VNS is a safe palliative treatment that is generally well tolerated. It is partially effective for controlling drug-resistant epilepsy and exerts a positive effect on quality of life

Vagus nerve stimulator implantation for epilepsy in a paediatric hospital: outcomes and effect on quality of life.

INTRODUCTION: Epilepsy, which is present in 0.5% to 1% of the paediatric population, is one of the most frequent childhood neurological disorders. Approximately 20% to 30% of these cases will be drug-resistant. The objective of this study is to describe the impact of vagal nerve stimulation (VNS) on seizures and quality of life in a sample of 30 patients. METHODS: Descriptive, retrospective study of all patients with a VNS device implanted between 2008 and 2013 in a single paediatric hospital, based on patients' medical records. Quality of life was assessed using the Spanish scale for quality of life in children with epilepsy, completed by means of a telephone interview. RESULTS: We describe a population of 19 boys (64%) and 11 girls (36%) with a mean age at seizure onset of 21 months (1-144 months). The mean age of VNS implantation was 11.89 years. Follow-up periods ranged from 6 to 36 months. Mean reduction in seizures at 6 months was 38%, with a reduction of 43% at 12 months, 42% at 24 months, and 54% at 36 months. At least half of all patients were classified as responders. According to the quality of life scale, 54% of the families rated the effect of VNS as either very good or good while 39% rated it as fair. CONCLUSIONS: VNS is a safe palliative treatment that is generally well tolerated. It is partially effective for controlling drug-resistant epilepsy and exerts a positive effect on quality of life.

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.

[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)

Utilización de la craniectomía descompresiva en el manejo de la hipertensión intracraneal refractaria en la edad pediátrica / Use of decompressive craniectomy in the management of refractory intracranial hypertension in paediatric patients

Introducción y objetivo: La hipertensión intracraneal (HITC) es la principal causa de mortalidad y secuelas de los pacientes con traumatismo craneoencefálico grave. La craniectomía descompresiva (CD) es una técnica quirúrgica que permite disminuir la presión intracraneal y mejorar la presión de perfusión cerebral (PPC). El objetivo del trabajo es presentar la experiencia con la CD para el tratamiento de la hipertensión intracraneal. Pacientes y métodos: Revisión retrospectiva de los pacientes ingresados entre los años 2005–2008 con lesión cerebral e hipertensión intracraneal incontrolable médicamente a los que se les realizó una CD como terapia. Resultados: Se incluyen 14 pacientes con traumatismo craneoencefálico grave con una mediana de edad de 14,2 años (4–20 años). Las lesiones detectadas más frecuentemente en la TC craneal de los niños con traumatismo fueron las lesiones encefálicas difusas II y III. En todos se practicó una CD por presentar cifras de presión intracraneal elevadas refractarias a la terapéutica instaurada. La evolución fue favorable en todos los pacientes salvo en 2. El 78,8% presenta una buena evolución neurológica (Glasgow Outcome Score 4 y 5) a los 6 meses de la intervención. Conclusión: La CD es una alternativa en el manejo de la hipertensión intracraneal refractaria al tratamiento médico en niños y adolescentes que han sufrido un traumatismo craneoencefálico grave y puede ser usada simultáneamente o como alternativa al coma barbitúrico sobre todo en aquellos pacientes con inestabilidad hemodinámica (AU)

Introduction and objective: Intracranial hypertension (ICH) is the main cause of morbidity and mortality in patients with severe traumatic head injuries. Decompressive craniectomy (DC) is a surgical technique that allows to reduce intracranial pressure (ICP) and to improve cerebral blood flow. Objective: To present our experience on DC for the treatment of ICH. Patients and methods: Retrospective review of patients admitted from January 2005 to December 2008 who had a traumatic brain injury (TBI) and uncontrollable intracranial hypertension despite optimal medical treatment and who needed DC. Results: Fourteen patients with severe TBI were included in this series. Mean age was 14.2 years (4–20 years). The more frequent damages detected in cranial computerized tomography were diffuse brain lesions types II and III. Indication for DC was made if ICP levels were above 25mmHg for more than 30min despite optimal medical treatment. Clinical outcome was favourable in all patients apart from two. Neurological outcome was correct in 78.8% of patients (Glasgow Outcome Score 4 and 5) six months after PICU discharge. Conclusion: DC is an alternative for the management of refractory intracranial hypertension in children and adolescents with severe TBI. It could be used simultaneously with the barbiturate coma or as an alternative, particularly in haemodynamically unstable patients (AU)

[Use of decompressive craniectomy in the management of refractory intracranial hypertension in paediatric patients]. / Utilización de la craniectomía descompresiva en el manejo de la hipertensión intracraneal refractaria en la edad pediátrica.

INTRODUCTION AND OBJECTIVE: Intracranial hypertension (ICH) is the main cause of morbidity and mortality in patients with severe traumatic head injuries. Decompressive craniectomy (DC) is a surgical technique that allows to reduce intracranial pressure (ICP) and to improve cerebral blood flow. OBJECTIVE: To present our experience on DC for the treatment of ICH. PATIENTS AND METHODS: Retrospective review of patients admitted from January 2005 to December 2008 who had a traumatic brain injury (TBI) and uncontrollable intracranial hypertension despite optimal medical treatment and who needed DC. RESULTS: Fourteen patients with severe TBI were included in this series. Mean age was 14.2 years (4-20 years). The more frequent damages detected in cranial computerized tomography were diffuse brain lesions types II and III. Indication for DC was made if ICP levels were above 25 mmHg for more than 30 min despite optimal medical treatment. Clinical outcome was favourable in all patients apart from two. Neurological outcome was correct in 78.8% of patients (Glasgow Outcome Score 4 and 5) six months after PICU discharge. CONCLUSION: DC is an alternative for the management of refractory intracranial hypertension in children and adolescents with severe TBI. It could be used simultaneously with the barbiturate coma or as an alternative, particularly in haemodynamically unstable patients.

[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

Tumor fibroso solitario meníngeo / No disponible

El tumor fibroso solitario es una entidad conocida en pleura y otras localizaciones, pero rara en las meninges. Presentamos el caso de un tumor fibroso solitario en cola de caballo y revisamos los casos publicados en la Literatura (AU)

Solitary fibrous tumor is an entity arising in the pleura and at other locations but is rarely found in the meninges. We present one case of this tumor, located in the spinal canal (cauda equina), and review the literature (AU)

Neuroendoscopic management of pineal region tumours.

The management of pineal tumours remains controversial. During 1994 we treated four consecutive adults (16-44 yrs) harbouring a pineal tumour with a neuroendoscopic procedure. All of them presented with hydrocephalus. Pre-operative workup included cranial computerized tomography (CT), craniospinal magnetic resonance imaging (MRI) and serum levels of biological tumour markers. The endoscopic procedure consisted of a third ventriculostomy followed by biopsy with a flexible, steerable neuroendoscope. Histological diagnosis was achieved in three patients who no longer required a shunt device. Recorded complications were: bleeding during ventriculostomy that prevented us from obtaining a good sample for biopsy, short-term memory loss that cleared over a two-week period, and transient increase of pre-operative hemiparesis. Complications and morbidity are emphasized so as to be avoided with further technical experience. Neuroendoscopy affords a minimally invasive way of reaching three objectives by one-step surgery in the management of pineal region lesions: 1) CSF sample for analysis of tumour markers. 2) Treatment of hydrocephalus by third ventriculostomy. 3) Several biopsy specimens can be obtained identifying tumours which will require further open surgery or adjuvant radiation and/or chemotherapy.