Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.

Neonatal diabetes mellitus (NDM) is defined as the occurrence of severe hyperglycemia in infants under 6 months old and may be permanent (PNDM) or transient (TNDM). When diabetes is diagnosed at 6-12 months of age (early onset diabetes [EOD]), the etiology may be monogenic; however, most cases consist of type 1 diabetes mellitus (T1DM). Molecular diagnosis was determined in a cohort of 35 unrelated Brazilian patients with NDM or EOD based on targeted next-generation sequencing panel and/or chromosome 6q24 abnormalities. The impact of genetic testing on treatment and follow-up was evaluated. Overall, 24 patients had NDM: with 18 (75.0%) having PNDM, 5 TNDM (20.8%) and 1 case in which this information was unknown. Eleven patients had EOD. Genetic testing was positive in 20/24 patients with NDM (83.3%) and in 18.2% of cases of EOD. The commonest causes were ATP-sensitive potassium (KATP) channel genes, and GCK and IPEX mutations (37.1%, 11.4% and 5.7%, respectively). Patients with PNDM due to KCNJ11 and ABCC8 mutations transitioned successfully to sulfonylureas in almost 60% of cases, reinforcing the benefit of performing genetic testing in NDM as early as possible. This report refers to the largest series of cases of NDM (TNDM and PNDM) and EOD in Brazil in which patients were submitted to molecular investigation and in which the clinical impact of genetic diagnosis was also evaluated.

Overt nickel and cobalt hypersensitivity after pipeline embolization device placement: A case report.

Nickel and cobalt are frequently found in metallic alloys used in the manufacture of aneurysm clips and endovascular prostheses, such as the pipeline embolization device (PED). Nickel hypersensitivity can affect up to 15% of the population, however, it is very rarely overt in patients who undergo endovascular stent placement. Here, we present the case of a 35-year-old woman who developed allergic symptoms after PED placement and was later confirmed to be allergic to both nickel and cobalt by patch testing. Fortunately, she responded well to pharmacologic treatment, rendering surgical intervention unnecessary. To the best of our knowledge, this is the first report of symptomatic nickel hypersensitivity, and the second report of symptomatic cobalt allergy caused by the PED. Despite its low prevalence, we believe that surgeons should actively inquire patients in the postoperative period about allergic symptoms, to facilitate early diagnosis and treatment.

Epidural Extramedullary Plasmacytoma Successfully Treated with Surgical Excision and Bortezomib, Cyclophosphamide and Dexamethasone.

Plasma cell neoplasms are common, accounting for more than 1% of all malignancies. Its most common form is multiple myeloma, but others, such as extramedullary plasmacytoma (EMP), exist. Spinal cord compression secondary to these pathologies is not uncommon, however, adjacent bone involvement is usually present. Spinal cord compression caused by isolated epidural EMP is extremely rare, with only one case reported to date. We describe the case of a 75-year-old female patient that presented with paraparesis, due to an isolated epidural EMP associated with light chain amyloidosis. She was treated with surgical decompression and neoadjuvant chemotherapy, and is currently with a 15-month disease-free period.

Cystic Adenoid Carcinoma of Lacrimal Gland.

Adenoid cystic carcinoma (ACC) is an uncommon malignant tumor that accounts for less than 5% of head and neck cancers. ACC is characteristic for its indolent nature and its propensity for late distant metastases. Late diagnosis, tendency to perineural invasion, periosteal infiltration and local recurrence are factors of poor prognosis. Although studies still discuss the ideal treatment, the initial therapy consists of surgical resection, followed by postoperative radiotherapy.

Intracranial hemorrhage and Covid-19: A retrospective analysis of 1675 hospitalized Covid-19 Brazilian patients.

Objective: The present study seeks to overcome the lack of data on Covid-19 associated intracranial hemorrhage (ICH) in Brazil. Methods: This is a retrospective, single-center case series of consecutive patients. It is a subanalysis of a larger study still in progress, which covers all neurological manifestations that occurred in patients admitted between March 1st, 2020 and June 1st, 2022, with active SARS-CoV-2 infection confirmed by polymerase chain reaction test. All patients with non-traumatic ICH were included. Results: A total of 1675 patients were evaluated: 917 (54.75 %) had one or more neurological symptoms and 19 had non-traumatic ICH, comprising an incidence of 1.13 %. All patients had one or more risk factors for ICH. The presence of neurological manifestations before the ICH and ICU admission showed a statistically significant relationship with the occurrence of ICH (X2 = 6.734, p = 0.0095; OR = 4.47; CI = 1.3-15.4; and FET = 9.13; p = <0.001; OR = 9.15; CI = 3.27-25.5 respectively). Conclusion: Our findings were largely congruent with the world literature. We believe that the assessment of risk factors can accurately predict the subgroup of patients at increased risk of ICH, but further studies are needed to confirm these hypotheses.

Spontaneous subdural effusion in a hospitalized Covid-19 patient: Case report.

Subdural effusions (SE) have already been associated with several viruses, but there are few associations with Covid-19 reported to date, and all of them had one thing in common: the presence of superimposed bacterial rhinosinusitis. Here we describe the case of a 76-year-old male patient that was transferred to our center due to severe SARS-CoV-2 infection and developed a SE during hospital stay. He presented sensory level impairment during hospitalization, but an initial Head CT scan showed no alterations. A new CT scan performed six days later evidentiated a bilateral SE. The patient had a cardiorespiratory arrest during the night of the same day, resulting in death. Covid-19 as a direct cause of subdural effusion (positive Covid-19 PCR in subdural fluid) has never before been reported in the literature, and, unfortunately, it was not possible to rule out or confirm this phenomenon in our case due to the rapid evolution of the clinical picture. However, our case clearly differs from the literature as the patient did not show any signs of sinus disease or intracranial hypotension, and the possible causes of the effusion boil down to spontaneity and the direct action of Covid-19 in the CNS and subdural space.

Hydrocephalus Resolution with Third Ventriculostomy with Floor Stenting: Technical Note and Literature Review.

INTRODUCTION: The management of refractory obstructive hydrocephalus is a paramount neurosurgical challenge. The endoscopic third ventriculostomy (ETV) has been accepted as the procedure of choice for obstructive hydrocephalus, depending on the presence of certain risk factors, such as intracranial infections, young age, previous shunt failure and distorted anatomy of the ventricular floor, that predispose occlusion or obstruction of the CSF outflow through the stoma. CASE REPORT: A 20-year-old man with obstructive hydrocephalus due to primary aqueductal stenosis performed several neurosurgical procedures, including two previous ETV, without long term resolution. We performed another ETV, with stent placement at the stoma to prevent occlusion. After 25 months of asymptomatic follow-up, the patient presented with an enlarged fourth ventricle, and a new neuroendoscopic procedure showed a patent stoma and a well-placed stent. DISCUSSION: Stent placement on the third ventricular floor was already reported 19 times in the literature. Its success rate is about 94,7%, and complications happened in 2 cases, with functional impaired in only one of them. CONCLUSION: Third ventriculostomy with floor stenting proved to be an effective procedure in our case of complex hydrocephalus. It is a viable option in cases where there is a greater chance of stoma occlusion.

Intraparenchymal Hemorrhage after Cranioplasty in a Patient with Sinking Flap Syndrome.

Decompressive craniectomy has been increasingly used in recent decades for the treatment of uncontrollable intracranial hypertension caused by trauma, malignant strokes, cerebral venous thrombosis, among others. Sinking flap syndrome (SFS) is a rare complication characterized by neurological deterioration after craniectomy. Here, we report the case of a 73-year-old female patient who presented with disorientation, lip rhyme deviation to the right and left hemiparesis after cardiac catheterization. In view of the presence of a malignant stroke, as well as the willingness of the family members to make a total investment to save the patient's life, decompressive hemicraniectomy was indicated. Subsequently, due to occasional headache attacks, nausea and vomiting, in addition to progressive depression of the subcutaneous flap, the possibility of SFS was suggested and cranioplasty was indicated, which occurred without perioperative intercurrences. Although the patient maintained a stable neurological status, a post-surgical computed tomography (CT) scan of the head showed a right intraparenchymal hemorrhagic lesion, associated with parenchymal expansion and midline deviation. To the best of our knowledge, intraparenchymal hemorrhages are not common complications after performing cranioplasty, and additional studies are needed to understand the reasons why this occurs. The mechanisms responsible for this type of injury are not well understood, but involve reperfusion damage and loss of brain compliance. Despite representing an uncommon complication, post-cranioplasty hemorrhage can cause severe morbidity to the patient, and early diagnosis and intervention are of great importance in these cases.

Casper stent in the treatment of pulsatile tinnitus in fibromuscular dysplasia: Therapeutic review and case report.

Fibromuscular dysplasia (FMD) is a known cause of pulsatile tinnitus that can, on rare occasion, evolve into an incapacitating condition. It is a noninflammatory and nonatherosclerotic arteriopathy of unknown cause that affects medium-sized vessels, such as the carotid and renal arteries, occurring mainly in women. We describe a 72-year-old woman suffering from pulsatile tinnitus refractory to medical treatment who was successfully treated with Casper stent in the carotid artery. The different treatment strategies published in the literature were reviewed.