Publications by authors named "Sanchez-Marco S"
Article Synopsis
- Cerebral palsy (CP), specifically spastic quadriplegia, can be linked to genetic factors, with mutations in the ADD3 gene found to play a role in some cases.
- A 16-year-old male with spastic diplegia underwent extensive testing, including whole exome sequencing (WES), which identified a biallelic variant in the ADD3 gene associated with inherited cerebral palsy.
- Researchers developed a Drosophila model to study the effects of ADD3 mutations, revealing that alterations in this gene lead to reduced lifespan and impaired movement, providing insights for potential treatments for ADD3-related cerebral palsy.
Unlabelled: Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder, caused by a deficiency of the monocarboxylate transporter 8 (MCT8), a specific transporter of thyroid hormones, with functions mainly at the brain level. The syndrome produces an early onset of severe neurological disorder, in which hypotonia predominates.
Objective: To present a rare case with an unexpected diagnosis, highlighting the usefulness of requesting a complete thyroid profile in every hypotonic male infant without a specific cause.
Introduction: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations.
Methods: We reviewed medical histories of patients with NF1 followed up at our hospital's paediatric neurology department from May 1990 to 31 December 2018. We collected data on neurological symptoms.
Introduction: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations.
Methods: We reviewed medical histories of patients with NF1 followed up at our hospital's paediatric neurology department from May 1990 to 31 December 2018. We collected data on neurological symptoms.
Introduction: Patients with neurofibromatosis type 1 (NF1) have a high predisposition to develop attention-deficit disorder. The aim of this study is to determine the prevalence of NF1 patients with attention-deficit/hyperactivity disorder (ADHD) diagnosis attending our Child Neurology Department. We assess patient adherence and medical treatment outcomes.
View Article and Find Full Text PDFIntroduction And Objective: In this article, we present our experience on optic neuritis (ON) and provide a diagnostic/therapeutic protocol, intended to rule out other aetiologies (particularly infection), and a fact sheet for parents.
Material And Methods: We conducted a descriptive, retrospective study of patients with ON over a 27-year period (1990-2017). A review of the available scientific evidence was performed in order to draft the protocol and fact sheet.
Introduction: Acute cerebellitis is a rare inflammatory disease with a highly variable clinical course that ranges from benign self-limiting symptoms to a fulminant presentation associated with a high risk of death due to compression of the posterior fossa, acute hydrocephalus, and intracranial hypertension.
Methods: We reviewed clinical, laboratory, and radiological findings from children diagnosed with acute cerebellitis between May 2007 and November 2016. We analysed treatments and clinical and radiological progression.
Objective: The evaluation of clinical and analytical parameters as predictors of the final growth response in Turner syndrome patients treated with growth hormone.
Material And Methods: A retrospective study was performed on 25 girls with Turner syndrome (17 treated with growth hormone), followed-up until adult height. Auxological, analytical, genetic and pharmacological parameters were collected.