A5021519042- Fetal and Pediatric Neurological Disorders
- Cerebrospinal fluid and hydrocephalus
- Infectious Diseases and Tuberculosis
- Teratomas and Epidermoid Cysts
- Spinal Dysraphism and Malformations
- Head and Neck Surgical Oncology
- Orthopedic Infections and Treatments
- Spinal Fractures and Fixation Techniques
- Vascular Malformations Diagnosis and Treatment
- Bacterial Infections and Vaccines
- Metabolism and Genetic Disorders
- Hemoglobinopathies and Related Disorders
- Cerebrovascular and Carotid Artery Diseases
- Mitochondrial Function and Pathology
- Craniofacial Disorders and Treatments
- Acute Ischemic Stroke Management
- Intracerebral and Subarachnoid Hemorrhage Research
- Neurological and metabolic disorders
- Lysosomal Storage Disorders Research
- Tumors and Oncological Cases
- Cerebral Venous Sinus Thrombosis
- Congenital Heart Disease Studies
- Neonatal and fetal brain pathology
- Infectious Encephalopathies and Encephalitis
- Anatomy and Medical Technology
Hospital de Dona Estefânia
2014-2025
Centro Hospitalar de Lisboa Central
2014-2023
Universidade Nova de Lisboa
2013-2023
Centro Hospitalar do Porto
2022
Hospital Dr. Nélio Mendonça
2020
Hospital Prof. Dr. Fernando Fonseca
2003-2020
University College London
2018
Hospital de São José
2018
University of Aveiro
2018
UK Dementia Research Institute
2018
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, first described in 2020, is associated autosomal recessive inheritance of pathogenic variant the TRAPPC4 gene. Given a relatively high carrier frequency, it crucial to recognize consider this diagnosis. We report 2 sisters homozygous variants (c.454+3A>G) gene, diagnosed after an extensive time-consuming clinical investigation. This reviews phenotypic spectrum TRAPPC4-related neurodevelopmental disorder, particularly...
A midline posterior parietal cystic structure—2×2 cm—was diagnosed in a routine 22-week ultrasonographic scan. It did not appear to have communication through bone or with sutures of the brain compartment. In 24th week, an MRI was performed, which confirmed presence small subcutaneous formation medial line parieto-occipital transition, seem macroscopic continuity cranial All structures were normal, except for vertical embryonic positioning straight sinus, so atretic encephalocoele suspected...
Abstract Background Chronic nonbacterial osteomyelitis (CNO) is a rare non-infectious inflammatory musculoskeletal disease where imaging plays key diagnostic role. Vertebral and mandibular lesions are frequent manifestations, meaning their awareness crucial for the neuroradiologist to avoid delays in diagnosis treatment. Objective Characterize vertebral CNO on assist practicing neuroradiologists better identifying this disease. Materials methods Retrospective review of all patients our...
Neurocysticercosis is a central nervous system infection caused by the pork tapeworm Taenia solium. The disease endemic in Central and South America, Asia Africa. Racemose neurocysticercosis refers to cysts subarachnoid space characterized proliferative lobulated without scolex. We report case of 43-year-old woman with an eight-month history headaches, ataxia loss vision. CT MRI showed intraventricular cyst, causing entrapment Monro foramina hydrocephalus, smaller at temporal lobes, Sylvian...
Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurodegenerative disorders that result from primary retrograde dysfunction the long descending fibers corticospinal tract, causing lower limb spasticity and muscular weakness. This diseases has heterogeneous clinical presentation. An extensive list associated genes, different inheritance patterns, ages at onset have been reported in HSPs.1 Spastic paraplegia type 52 (SPG52) is an autosomal recessive disease caused by AP4S1...
We report a pediatric case of Lyme neuroborreliosis–associated meningomyeloradiculitis with atypical manifestations and negative initial cerebrospinal fluid borrelial antibodies. Transverse myelitis painful radiculoneuritis have rarely been described in neuroborreliosis. Clinical are wide ranging nonspecific, the serologic diagnosis is often delayed acute phase.
Abstract Background Idiopathic intracranial hypertension (IIH) has well-described imaging findings, typically reversible with the adequate treatment. We hereby report a case of IIH peculiar finding, that to our knowledge and by research conducted, never been described before—cerebro-spinal fluid (CSF) transudation across optic nerve sheath. Case presentation A 15-year-old girl 2-week history occipital headache, nausea vomiting, diplopia, blurred vision tinnitus in her right ear, was admitted...
The inherited bone marrow failure syndromes (IBMFS) are a group of clinically heterogeneous disorders in which at least one hematopoietic cell lineage is significantly reduced number.1 Dyskeratosis congenita (DC), an IBMFS caused by germline defects telomere biology, diagnosed the presence classic clinical triad nail dysplasia, lacy skin pigmentation and oral leukoplakia. There variants DC, namely Hoyeraal-Hreidarsson syndrome, Revesz Coats plus syndrome (CpS) or cerebroretinal...
Leigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, severe prognosis. can be more than 75 different gene mutations, of nuclear origin, involving all respiratory chain complexes, less 25% syndrome having DNA mutations. The typical pathologic hallmarks are focal, bilateral, symmetric lesions the basal ganglia, thalamus, cerebellum, cerebral white matter spinal cord gray...
Frequency of pediatric WE is estimated to be similar in adults, although it an underdiagnosed condition. In our reports, the nutritional deficit (caused by persistent vomiting and prolonged partial parenteral feeding) triggered signs symptoms WE. Therefore, should considered as a differential diagnosis all patients at risk for deficiency, increasing clinical suspicion early treatment.
Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by primary disturbance innervation due to deficient, absent, or misguided nerves. Although some CCDDs genes known, several clinical and their aetiologies remain be elucidated. We describe 12-year-old boy with hypotonia, developmental delay, sensorineural hearing loss, keratoconjunctivitis lack corneal reflex. He had long expressionless face, severe oromotor dysfunction,...
Tuberous sclerosis (TS) is a genetic multisystem disorder associated with the development of benign tumors in many organs. Diffuse lipomatosis, which represents overgrowth fatty tissue one part body, very rare finding reported patients tuberous sclerosis. We describe case patient diffuse lipomatosis right scapular, posterior cervical and perivertebral regions, space-occupying lesion adjacent to odontoid process C2 that appeared be pseudotumor, discuss possible relation between these entities.