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BACKGROUND: Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction. Enzyme replacement therapy with recombinant human acid alpha-glucosidase is the standard of care; however, some patients develop anti-recombinant human acid alpha-glucosidase antibodies, leading to reduced efficacy. This case report presents two infants with early-onset Pompe disease who developed IgG antibodies to enzyme replacement therapy and were subsequently treated with methotrexate, highlighting the importance of monitoring antibody development and exploring alternative therapeutic approaches. CASE PRESENTATION: Patient 1, a 10-month-old female from Bogota, Colombia, presented with generalized hypotonia, macroglossia, hyporeflexia, and mild left ventricular hypertrophy. Diagnostic tests confirmed early-onset Pompe disease, and enzyme replacement therapy was started at 12 months. Due to a lack of improvement and high anti-recombinant human acid alpha-glucosidase IgG antibody titers (1:1800), methotrexate was started at 18 months. After 8 months of combined therapy, antibody titers were negative and significant improvement in motor function was observed using the Gross Motor Function Measure 88. Patient 2, a 7-year-old female from Bogota, Colombia, was diagnosed with early-onset Pompe disease at 12 months and initiated enzyme replacement therapy. At 5 years of age, she experienced frequent falls and grip strength alterations. Functional tests revealed motor development delay, generalized hypotonia, and positive anti-recombinant human acid alpha-glucosidase IgG antibody titers (6400). Methotrexate was initiated, leading to a reduction in falls and antibody titers (3200) after 6 months, with no adverse events or complications. Motor function improvement was assessed using the Motor Function Measurement 32. CONCLUSIONS: The presented cases highlight the importance of monitoring patients for anti-recombinant human acid alpha-glucosidase antibody development during enzyme replacement therapy and the potential benefit of methotrexate as an immunomodulatory agent in early-onset Pompe disease. Early diagnosis and timely initiation of enzyme replacement therapy, combined with prophylactic immune tolerance induction, may improve clinical outcomes and reduce the development of anti-recombinant human acid alpha-glucosidase antibodies. The cases also highlight the importance of objective motor function assessment tools, such as Gross Motor Function Measure 88 and Motor Function Measurement 32, in assessing treatment response. Further research is needed to optimize treatment regimens, monitor long-term effects, and address the current limitations of enzyme replacement therapy in Pompe disease.
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Terapia de Reemplazo Enzimático , Enfermedad del Almacenamiento de Glucógeno Tipo II , Metotrexato , alfa-Glucosidasas , Humanos , Enfermedad del Almacenamiento de Glucógeno Tipo II/tratamiento farmacológico , Femenino , Lactante , alfa-Glucosidasas/uso terapéutico , Metotrexato/uso terapéutico , Niño , Resultado del Tratamiento , Inmunoterapia/métodos , Inmunoglobulina G , Proteínas Recombinantes/uso terapéuticoRESUMEN
The absence of the cranial bones is a rare entity usually incompatible with life. Agenesis of parietal bones has been rarely reported in the literature. A case of a neonate with bilateral parietal agenesis associated hydrocephalus is reported. The cranial defect was managed conservatively. To our knowledge we present the first case of congenital agenesis of the parietal bone associated with hydrocephalus.
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Hidrocefalia/etiología , Cráneo/anomalías , Humanos , Recién Nacido , MasculinoRESUMEN
BACKGROUND: acute otitis media is a frequent disease in the pediatric age. About 2 % of all cases develop intracranial complications such as meningitis. The cerebral infarction originates meningitis and usually occurs in the venous system. The presence of a cerebral artery infarction secondary to acute otitis media is a rare cause described in the literature. CLINICAL CASE: a girl of 12 months who presented a febrile syndrome due to acute otitis media and mental confusion. On physical examination, she appeared sleepy with anisocoria, mydriasis in the right eye and left hemiparesis. The computed tomography examination showed extensive cerebral artery infarction. The patient's parents refused the proposed surgical treatment and the girl died 48 hours later. CONCLUSIONS: regardless of the current technological advances, the clinical prognosis of cerebral infarction associated with acute otitis media is bad. The focused neurological signs and progressive clinical deterioration should raise suspicion that antimicrobial therapy is not effective.
Introducción: la otitis media aguda es una inflamación del oído medio frecuente en la edad pediátrica. Aproximadamente 2 % de todos los casos desarrolla complicaciones intracraneales, más específicamente meningitis; por lo general, los infartos cerebrales originados por esta última son venosos. Rara vez se ha descrito la ocurrencia de un infarto arterial cerebral como complicación directa de la otitis media aguda. Caso clínico: niña de 12 meses de edad quien fue llevada a un servicio de urgencias por síndrome febril secundario a otitis media aguda y alteración del estado de conciencia. A la exploración física se identificó que estaba somnolienta, con anisocoria, midriasis en el ojo derecho y hemiparesia izquierda. Con la tomografía axial computarizada de cerebro se apreció un infarto arterial cerebral extenso. Los padres no autorizaron la craniectomía descompresiva y la paciente falleció a las 48 horas de su ingreso hospitalario. Conclusiones: a pesar de los recursos tecnológicos con los que se dispone actualmente, el infarto cerebral relacionado con la otitis media aguda tiene una evolución tórpida. Los signos neurológicos focalizadores y el deterioro progresivo deben apuntar a la ineficacia del tratamiento antimicrobiano instaurado.
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Infarto de la Arteria Cerebral Media/etiología , Otitis Media/complicaciones , Enfermedad Aguda , Resultado Fatal , Femenino , Humanos , LactanteRESUMEN
A frequent complication after head trauma is cerebrospinal fluid fistulas. They usually resolve spontaneously. Rhinorrhea is a cardinal sign that suggest the presence of such fistula. We review the case of a 47 year-old-female with a five-month history of rhinorrhea after moderate head trauma 20 year before. The patient initially managed with medical therapy needed a lumbar-peritoneal derivation that satisfactorily cured her rhinorrhea
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Lesiones Encefálicas/complicaciones , Rinorrea de Líquido Cefalorraquídeo/etiología , Fístula/etiología , Enfermedades de los Senos Paranasales/etiología , Seno Esfenoidal , Femenino , Humanos , Persona de Mediana Edad , Factores de TiempoRESUMEN
Sickle cell anemia is a common genetic condition that may have ischemic brain infarct and hemorrhagic complications, these being known as major complications. The incidence of stroke in children with sickle cell anemia is similar to that presented by the elderly in the general population. A case of a schoolchild that debuted with synchronous bilateral intracerebral hemorrhage is discussed. To our knowledge this is the first report in the literature of synchronous bilateral gangliobasal bleeding in a schoolchild with sickle cell anemia.
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Anemia de Células Falciformes/complicaciones , Hemorragia Cerebral/etiología , Niño , Femenino , HumanosRESUMEN
HIV/AIDS corresponds to a systemic disease whose pathogenic mechanism by direct cellular infection by the virus followed by high levels of viral replication and a severe state of immunosuppression predisposes to numerous opportunistic infections as well as tumor and autoimmune disease. The association of AIDS and stroke in young patients is rare. We present a case of a 16 year-old-female with a diagnosis of HIV infection and massive infarct of the left cerebral hemisphere and right basal ganglia segment with herniation We conduct a review of the association of HIV infection and cerebrovascular disease in children.
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Síndrome de Inmunodeficiencia Adquirida/complicaciones , Infarto Cerebral/etiología , Adolescente , Femenino , HumanosRESUMEN
Tumors of the orbit are pathology of considerable complexity in management due to the diverse anatomic and muscular, vascular, cartilagenous and neural components present. We review a series of 35 cases managed at the National Institute of Cancer in Bogota, Colombia. We determine variables such as age, sex, symptoms, histology, location and surgical procedure of these tumors. This review suggest that this complex pathology should be managed by a multidisciplinary team with extensive neurosurgical experience to obtain satisfactory results.
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Neoplasias Orbitales/terapia , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
Abstract Introduction: Neuronal ceroid lipofuscinosis (NCLs) is an autosomal recessive neurodegenerative disorders group. We report the first case in Colombia involving a new genetically confirmed variant of a homozygous CLN6 mutation. Case report: 12-year-old male, history of blood parents and average growth until 5 years of age. At this age began focal crises, progressive regression of neurodevelopment, severe cognitive deficit, and swallowing disorder that led to gastrostomy. Clinical exome + CNVs + mitochondrial DNA genetic study identified variant NM_017882.3 (CLN6): c. 22C>T, p. (Gln8*) in homozygous, deleterious. Late-onset infantile neuronal ceroid lipofuscinosis was diagnosed. Discussion: Mutations in the CLN6 gene are associated with late-onset infantile lipofuscinosis of autosomal recessive inheritance. This variant has not been previously described in the medical literature nor is it listed in the population databases, which indicates that it is extremely rare. The treatment focuses on the control of seizures, sleep disturbances, extrapyramidal symptoms, behavioral disorders, anxiety, and psychosis. Conclusion: To date, this variant of the CLN6 gene has not been reported in the world. There are currently no etiological or disease-specific therapeutic approaches. The use of exome/whole genome sequencing can be very useful for etiological diagnosis and differential diagnosis. An early diagnosis opens the door to future care and treatment.
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Las normas internacionales para la clasificación neurológica de las lesiones de la médula espinal (ISNCSCI, por sus siglas en inglés), surgen de la necesidad de establecer un lenguaje común en la evaluación inicial y el seguimiento del paciente con lesión medular espinal (LME). La versión 2019 incorpora nuevos conceptos acerca de las deficiencias no relacionadas con la lesión de la médula espinal y de las zonas de preservación parcial en lesiones medulares incompletas. Esta clasificación permite estandarizar el examen físico, lo cual aumenta la reproducibilidad entre diferentes examinadores y el seguimiento a largo plazo. Además, facilita establecer el tratamiento y el pronóstico
The International Standards for Neurological Classification of Spinal Cord Injury (ISNCSCI) arose from the need to establish a common language in the initial evaluation and follow-up of the patient with spinal cord injury (SCI). The 2019 version incorporates new concepts about non-spinal cord injury-related impairments and areas of partial preservation in incomplete SCI. This classification allows standardization of the physical examination, which increases reproducibility between different examiners and long-term follow-up. It also facilitates the establishment of treatment and prognosis.
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HumanosRESUMEN
RESUMEN INTRODUCCIÓN: La enfermedad de Fabry (EF) es una enfermedad genética, causada por el déficit de la enzima alfa galactosidasa A (α-Gal A), lo que provoca la acumulación de glicoesfingolípidos en los tejidos. Sus manifestaciones clínicas son variables. Estudios en mujeres heterocigotas reportan la existencia de dolor neuropático como manifestación de neuropatía de fibra pequeña. OBJETIVO: Determinar la presencia de neuropatía de fibra pequeña en mujeres heterocigotas para la EF, mediante la prueba cuantitativa sensorial. MATERIALES Y MÉTODOS: Se evaluaron 33 mujeres heterocigotas para EF y 33 mujeres sanas, con características demográficas similares. A todas se les aplicó la prueba cuantitativa sensorial (Quantitative Sensory Testing por medio de la detección de umbrales de frío (Colà Detection Threshold), calor (Warm Detection Threshold), dolor inducido por calor (Heat-pain Detection Thresholds) y vibración (Vibratory Detection Threshold) en los miembros superior e inferior, utilizando un sistema asistido por computador versión IV (CASE IV, WR Medical Electronics Co., Stillwater, MN). Adicionalmente, al grupo de mujeres heterocigotas para EF, se le evaluó la percepción subjetiva de dolor neuropàtico mediante el cuestionario de síntomas sensitivos neuropáticos positivos (Positive Neuropathic Sensory Symptom). Los resultados de la prueba cuantitativa sensorial se compararon entre los grupos. También se estableció la correlación entre la prueba cuantitativa sensorial y los resultados del cuestionario de síntomas sensitivos neuropáticos positivos. RESULTADOS: Se encontró una diferencia estadísticamente significativa en las pruebas de vibración (p = 0,008), calor (p = 0,017) y dolor inducido por calor (p = 0,04) en el miembro inferior en las mujeres heterocigotas para EF, comparado con el grupo control. Se encontró una correlación inversa estadísticamente significativa entre la intensidad del dolor quemante y el dolor inducido por calor en el miembro inferior (p = 0,018, r = -0,48) y entre la intensidad del dolor al ser rozado o tocado y el dolor inducido por calor en el miembro inferior (p = 0,006, r = -0,49). CONCLUSIÓN: En las mujeres heterocigotas para EF, las pruebas objetivas para establecer la presencia de neuropatía de fibra pequeña son anormales en miembros inferiores y se correlacionan con los síntomas sensitivos.
SUMMARY INTRODUCTION: Fabry disease is a genetic condition caused by alpha-galactosidase A deficiency triggering glycosphingolipid accumulation in tissues. Clinical manifestations are variable. Studies in heterozigous females report the existence of neuropathic pain as manifestation of small fiber neuropathy. OBJECTIVE: To determine presence of small fiber neuropathy in heterozigous females with Fabry disease through Quantitative Sensory Testing (QST). MATERIALS AND METHODS: 33 heterozigous females with fabry disease and 33 healthy females with similar demographic characteristics were evaluated. QST was performed to every female evaluating Cold detection Threshold (CDT), Warm Detection Threshold (WDT), Heat-pain Detection Threshold (HPDT) and Vibratory Detection Threshold (VDT) in upper and lower limbs through Computer Assisted Sensory Examination software (CASE IV, WR Medical Electronics Co., Stillwater, MN). Subjective perception of neuropathic pain was measured through Positive Neuropathic Sensory Symptom questionnaire (P-NSS) in heterozigous females with Fabry disease. QST results were compared between groups. Correlations between QST and P-NSS were established. RESULTS: Statistically significant differences were observed in VDT (p= 0,008), WDT (p= 0,017) and HPDT (p= 0,04) in lower limbs of heterozigous females with Fabry disease compared with control group. Negative correlation was found among burning pain intensity and HPDT at lower limbs (p= 0,018, r= -0,48) and among pain intensity to light touch and HPDT in lower limbs (p= 0,006, r=-0,49). CONCLUSIONS: Objective tests to establish presence of small fiber neuropathy in heterozigous females with Fabry disease are abnormal at lower limbs and correlate with sensory symptoms.
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Umbral Sensorial , Dimensión del Dolor , Enfermedad de Fabry , Terapia de Reemplazo Enzimático , Neuropatía de Fibras Pequeñas , NeuralgiaRESUMEN
Objetivo. Determinar la utilidad de la prueba electromiográfica conocida como 'límite de disfagia' en una cohorte de individuos con trastorno de deglución. Materiales y métodos. Se evaluaron 32 individuos sanos y 32 individuos con trastorno de deglución detectado mediante el cuestionario autosuministrado EAT-10 (Eating Assessment Tool-10), versión traducida y validada al español para Colombia. A todos los individuos se les aplicó la prueba límite de disfagia como método cuantitativo y no invasivo para evaluar la deglución mediante electromiografía de superficie con electrodos ubicados en el músculo submentalis y en el espacio cricotiroideo, utilizando un equipo de dos canales Cadwell Summit Sierra®. Se suministró agua cuyo volumen aumentó gradualmente: 5, 10, 15, 20 y 25 ml. Todos los sujetos fueron instruidos para deglutir el volumen total suministrado en un solo trago. Se determinó el número de pasos o bursts que requirió el individuo para ingerir todo el volumen de líquido. Los resultados de la prueba límite de disfagia se compararon entre los grupos. Se estableció correlación entre el EAT-10 y la prueba límite de disfagia. Se calculó la exactitud diagnóstica de la prueba límite de disfagia en cuanto sensibilidad, especificidad, valores predictivos, proporción de falsos positivos y fasos negativos. Resultados. Se encontró una buena exactitud diagnóstica de la prueba límite de disfagia para detectar trastorno de deglución. Se constató una correlación significativa entre el puntaje de la escala EAT-10 y el resultado de la prueba electrofisiológica límite de disfagia. Conclusión. Este estudio muestra que la prueba límite de disfagia tiene un buen rendimiento diagnóstico para detectar trastorno de deglución
Objective. To determine the usefulness of the electromyographic test known as the 'dysphagia borderline' in a cohort of individuals with swallowing disorder. Materials and methods. Thirty-two healthy individuals and 32 individuals with swallowing disorder detected by means of the self-supplied questionnaire EAT-10 (Eating Assessment Tool-10), a version translated and validated in Spanish for Colombia, were evaluated. All individuals underwent the dysphagia borderline test as a quantitative and non-invasive method to evaluate swallowing by means of surface electromyography with electrodes located in the submentalis muscle and in the cricothyroid space, using a two-channel Cadwell Summit Sierra® equipment. Water was supplied with gradually increasing volume: 5, 10, 15, 15, 20 and 25 ml. All subjects were instructed to swallow the total volume supplied in one gulp. The number of steps or bursts required by the individual to swallow the entire volume of liquid was determined. The results of the borderline dysphagia test were compared between groups. Correlations were established between the EAT-10 and the borderline dysphagia test. The diagnostic accuracy of the borderline dysphagia test was calculated in terms of sensitivity, specificity, predictive values, false-positive and false-negative rates. Results. A good diagnostic accuracy of the borderline dysphagia test for detecting swallowing disorder was found. A significant correlation was found between the EAT-10 scale score and the result of the electrophysiological borderline dysphagia test. Conclusion. This study shows that the borderline dysphagia test has a good diagnostic performance to detect swallowing disorder.
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HumanosRESUMEN
The patient with head trauma is a challenge for the emergency physician and for the neurosurgeon. Currently traumatic brain injury constitutes a public health problem. Knowledge of the various supportive therapeutic strategies in the pre-hospital and pre-operative stages is essential for optimal care. The immediate rapid infusion of large volumes of crystalloids to restore blood volume and blood pressure is now the standard treatment of patients with combined traumatic brain injury (TBI) and hemorrhagic shock (HS). The fluid in patients with brain trauma and especially in patients with brain injur y is a critical issue. In this context we present a review of the literature about the history, physiology of current fluid preparations, and a discussion regarding the use of fluid therapy in traumatic brain injury and decompressive craniectomy.
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The sacral percutaneous fixation has many advantages but can be associated with a significant exposure to X-ray radiation. Currently, sacroiliac screw fixation represents the only minimally invasive technique to stabilize the posterior pelvic ring. It is a technique that should be used by experienced surgeons. We present a practical review of important aspects of this technique.
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OBJECTIVE: To determine the effects of glycemic level on outcome patients with traumatic brain injury. METHODS: From September 2010 to December 2012, all medical records of adult patients with TBI admitted to the Emergency Room of Laura Daniela Clinic in Valledupar City, Colombia, South America were enrolled. Both genders between 18 and 85 years who referred during the first 48 hours after trauma, and their glucose level was determined in the first 24 hours of admission were included. Adults older than 85 years, with absence of Glasgow Coma Scale (GCS) score and a brain Computerized Tomography (CT) scans were excluded. The cut-off value was considered 200 mg/dL to define hyperglycemia. Final GCS, hospital admission duration and complications were compared between normoglycemic and hyperglycemic patients. RESULTS: Totally 217 patients were identified with TBI. Considering exclusion criteria, 89 patients remained for analysis. The mean age was 43.0±19.6 years, the mean time of remission was 5.9±9.4 hours, the mean GCS on admission was 10.5±3.6 and the mean blood glucose level in the first 24 hours was 138.1±59.4 mg/dL. Hyperglycemia was present in 13.5% of patients. The most common lesions presented by patients with TBI were fractures (22.5%), hematoma (18.3%), cerebral edema (18.3%) and cerebral contusion (16.2%). Most of patients without a high glucose level at admission were managed only medically, whereas surgical treatment was more frequent in patients with hyperglycemia (p=0.042). Hyperglycemia was associated with higher complication (p=0.019) and mortality rate (p=0.039). GCS was negatively associated with on admission glucose level (r=0.11; p=0.46). CONCLUSION: Hyperglycemia in the first 24-hours of TBI is associated with higher rate of surgical intervention, higher complication and mortality rates. So hyperglycemia handling is critical to the outcome of patients with traumatic brain injury.
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Brain abscess (BA) is defined as a focal infection within the brain parenchyma, which starts as a localized area of cerebritis, which is subsequently converted into a collection of pus within a well-vascularized capsule. BA must be differentiated from parameningeal infections, including epidural abscess and subdural empyema. The BA is a challenge for the neurosurgeon because it is needed good clinical, pharmacological, and surgical skills for providing good clinical outcomes and prognosis to BA patients. Considered an infrequent brain infection, BA could be a devastator entity that easily left the patient into dead. The aim of this work is to review the current concepts regarding epidemiology, pathophysiology, etiology, clinical presentation, diagnosis, and management of BA.
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Intracranial hypertension is the largest cause of death in young patients with severe traumatic brain injury. Decompressive craniectomy is part of the second level measures for the management of increased intracranial pressure refractory to medical management as moderate hypothermia and barbiturate coma. The literature lack of concepts is their indications. We present a review on the state of the art.
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ABSTRACT: Traumatic brain injury is a common condition in the emergency services, affecting the pediatric and adult population significantly. Patterns of head injury as well as management principles in children are important differences compared to adults. Traumatic brain injury by bull rush is usually seen in adults but has not been described in children-report a pediatric cranial trauma present bull rush, which to our knowledge is the first report in the literature of this nature.
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In utero head traumas are extremely rare and are usually caused by penetrating injuries in the thoracic or abdominal wall that affect the uterine cavity. Transvaginal fetal head injuries have been reported in exceptional cases. This is a case-report of a fetus affected by penetrating head trauma with skull fracture and intra-ventricular hemorrhage after his mother's self-insertion of a blunt object, violently through the vagina. Trauma disrupted the integrity of intrauterine membranes and precipitated preterm labor. After birth, there was a debridement of the scalp and surgical management of the fracture was performed; nevertheless, the patient died four weeks later, due to neonatal sepsis. Management of these wounds must not only be focused on repairing the primary wound, but on preventing the infectious complications.
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Lesiones Prenatales/etiología , Automutilación/complicaciones , Heridas Penetrantes/complicaciones , Femenino , Humanos , Embarazo , Vagina , Adulto JovenRESUMEN
Los traumatismos encefalocraneanos in útero son extremadamente raros y suelen ser consecuencia de lesiones penetrantes a través de la pared torácica o abdominal, que alcanzan la cavidad uterina. Los originados a través de la vagina se han comunicado excepcionalmente. Se presenta el caso de un feto que padeció traumatismo encefalocraneano penetrante, con fractura de la bóveda craneal y hemorragia intraventricular tras la introducción violenta de un objeto contundente a través de la vagina por parte de su madre. La ruptura traumática de las membranas ovulares desencadenó el trabajo de parto pretérmino. Tras el nacimiento, se realizó tratamiento quirúrgico de la fractura deprimida y desbridamiento de la herida; sin embargo, el paciente falleció cuatro semanas más tarde a causa de sepsis neonatal. El tratamiento de estos casos no solo deber ser dirigido a la corrección de las lesiones traumáticas primarias sino también a la prevención de las complicaciones infecciosas.
In utero head traumas are extremely rare and are usually caused by penetrating injuries in the thoracic or abdominal wall that affect the uterine cavity. Transvaginal fetal head injuries have been reported in exceptional cases. This is a case-report of a fetus affected by penetrating head trauma with skull fracture and intra-ventricular hemorrhage after his mother's self-insertion of a blunt object, violently through the vagina. Trauma disrupted the integrity of intrauterine membranes and precipitated preterm labor. After birth, there was a debridement of the scalp and surgical management of the fracture was performed; nevertheless, the patient died four weeks later, due to neonatal sepsis. Management of these wounds must not only be focused on repairing the primary wound, but on preventing the infectious complications.
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Femenino , Humanos , Embarazo , Adulto Joven , Lesiones Prenatales/etiología , Automutilación/complicaciones , Heridas Penetrantes/complicaciones , VaginaRESUMEN
La mielinolisis osmótica es una patología metabólica que repercute sobre el sistema nervioso central; se considera que ocurre por la rápida corrección de una hiponatremia, lo que conduce a la desmielinización pontina y extrapontina. En este artículo se comentaran brevemente algunos aspectos de esta interesante patología que muchas veces no es diagnosticada y debe ser conocida por el cuerpo médico que maneja paciente críticos...
The central pontine myelinolysis is a metabolic disorder that affects the central nervous system; it is considered that a quick correction of hyponatremia leads to pontine and extra-pontine demyelination. This article briefl y discusses some interesting aspects of this condition which is often diagnosed and should be known by the medical body that manages critical patients...