Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.

Background: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant disease with high clinical variability, influenced by both genotype and the geographic origins of carriers. There is a limited understanding of the Val142Ile and Ser43Asn recognised mutations in Ecuador and Colombia. Therefore, the objective of this study is to describe the neurological and functional characteristics of patients with hATTR associated with the Val142Ile and Ser43Asn mutations, as well as to identify possible differentiating factors between the two mutations.

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report.

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.

Sacroiliac screw fixation: A mini review of surgical technique.

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.

Traumatic brain injury due to bull assault in a girl: a case report.

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.

Effects of Glycemic Level on Outcome of Patients with Traumatic Brain Injury: A Retrospective Cohort Study.

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.

Intravenous Fluid Therapy in Traumatic Brain Injury and Decompressive Craniectomy.

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.

Cerebral sinus venous thrombosis.

Cerebral sinus venous thrombosis (CSVT) is a rare phenomenon that can be seen with some frequency in young patients. CSVT is a multifactorial condition with gender-related specific causes, with a wide clinical presentation, the leading causes differ between developed and developing countries, converting CSVT in a condition characterized by a highly variable clinical spectra, difficult diagnosis, variable etiologies and prognosis that requires fine medical skills and a high suspicious index. Patients who presents with CSVT should underwent to CT-scan venography (CVT) and to the proper inquiry of the generating cause.

Brain abscess: Current management.

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.

[Cerebral artery infarction presented as an unusual complication of acute middle otitis].

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.

[Congenital agenesis of cranial bones associated with hydrocephalus: a case report].

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.

[Late onset of cerebrospinal fluid post-traumatic fistula: a case report].

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.

[Cerebral infarction in an adolescent with AIDS: a case report].

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.

Decompressive Craniectomy and Traumatic Brain Injury: A Review.

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.

[Orbital tumors: experience with 35 cases].

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.

[Transvaginal penetrating fetal head injury].

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.

[Synchronous bilateral gangliobasal hemorrhage in a student with sickle cell anemia: a case report].

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.