Evaluation of mental performance and cognitive functions of children and adolescents diagnosed with radiologically isolated syndrome.

BACKGROUND: Radiologically isolated syndrome (RIS) is a condition characterized by asymptomatic, incidentally detected demyelinating plaques in the CNS in a patient without typical clinical findings of multiple sclerosis (MS). This study aimed to compare the mental status and cognitive functions of child and adolescent RIS cases with healthy controls and to investigate the relationship between psychometric test results and the demyelinating lesion characteristics. METHODS: The mental status and cognitive functions of 12 RIS cases and 12 healthy controls were compared. Semi-structured interviews, behavioral evaluations, depression and anxiety scales, neuropsychological test battery, and an intelligence test were applied for the evaluation of mental state and cognitive functions. These results were compared with the number and localization of demyelinating lesions. RESULTS: Sustained attention, visual-motor coordination, short-term memory skills, and ability to use visual-spatial information were found worse in the RIS group. There was no correlation between mental state and cognitive functions, and the number and localization of demyelinating lesions. CONCLUSION: Our study showed that pediatric RIS cases may have worse cognitive performance than healthy controls, but no correlation was found between the number and location of demyelinating lesions and psychiatric findings. Although it is controversial whether psychiatric disorders and cognitive disabilities have predictive value in terms of MS conversion in pediatric RIS cases, these subjects were not included in the scope of this study.

Cardiac evaluation of patients with juvenile dermatomyositis.

BACKGROUND: The present study aims to evaluate possible cardiac involvement in juvenile dermatomyositis (JDM) patients by conventional methods and cardiac magnetic resonance imaging (MRI) along with a systematic review of the literature on cardiac features in JDM. METHODS: The study group consisted of JDM patients who underwent cardiac MRI. We conducted a systematic review of the published literature involving JDM patients with cardiac involvement. RESULTS: In the present study, although baseline cardiologic evaluations including electrocardiography and echocardiography were within normal limits, we showed late gadolinium enhancement on cardiac MRI in 3 of 11 JDM patients. In the literature review, we identified 25 articles related to cardiac involvement in JDM. However, none of them, except one case report, included cardiac MRI of JDM patients. CONCLUSION: Cardiac abnormalities have been reported among the less frequent findings in patients with JDM. Cardiovascular complications during the long-term disease course are a leading cause of morbidity and mortality in these patients. Early detection of cardiac involvement by cardiac MRI in patients with JDM and aggressive treatment of them may improve the clinical course of these patients. IMPACT: The myocardium in patients with JDM may be involved by inflammation. Myocardial involvement may be evaluated by using contrast-enhanced cardiac MRI. This is the first study evaluating cardiac involvement by cardiac MRI in JDM patients. MRI may show early cardiac involvement in patients whose baseline cardiologic evaluations are within normal limits. Early detection of cardiac involvement by cardiac MRI may improve the long-term prognosis of patients with JDM.

Compound Heterozygous ROBO3 Mutation in Two Siblings Presenting with Horizontal Gaze Palsy without Scoliosis: Case-Based Review.

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessively inherited disorder characterized by a congenital absence of conjugated horizontal eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations of the ROBO3 gene that disrupts the midline crossing of the descending corticospinal and ascending lemniscal sensory tracts in the medulla. We present two siblings, 5-year-old and 2-year-old boys with HGPPS, from non-consanguineous parents. The older brother was brought for the evaluation of moderate psychomotor retardation. He had bilateral horizontal gaze palsy with preserved vertical gaze and convergence. Scoliosis was absent. Cranial MRI showed brainstem abnormalities, and diffusion tensor imaging showed absent decussation of cortico-spinal tracts in the medulla. Clinical diagnosis of HGPPS was confirmed by sequencing of ROBO3 gene, IVS4-1G > A (c.767-1G > A) and c.328_329delinsCCC (p.Asp110Profs*57) compound heterozygous variations were found, and segregated in parents. The younger boy was first reported at 16 months of age and had the same clinical and neuroradiological findings, unlike mild psychomotor retardation. ROBO3 gene analysis showed the same variants in his brother. Our cases show the importance of evaluating eye movements in children with neurodevelopmental abnormalities and looking for brainstem abnormalities in children with bilateral horizontal gaze palsy.

A Novel Fusion of Radiomics and Semantic Features: MRI-Based Machine Learning in Distinguishing Pituitary Cystic Adenomas from Rathke's Cleft Cysts.

Objectives: To evaluate the performances of machine learning using semantic and radiomic features from magnetic resonance imaging data to distinguish cystic pituitary adenomas (CPA) from Rathke's cleft cysts (RCCs). Materials and Methods: The study involved 65 patients diagnosed with either CPA or RCCs. Multiple observers independently assessed the semantic features of the tumors on the magnetic resonance images. Radiomics features were extracted from T2-weighted, T1-weighted, and T1-contrast-enhanced images. Machine learning models, including Support Vector Machines (SVM), Logistic Regression (LR), and Light Gradient Boosting (LGB), were then trained and validated using semantic features only and a combination of semantic and radiomic features. Statistical analyses were carried out to compare the performance of these various models. Results: Machine learning models that combined semantic and radiomic features achieved higher levels of accuracy than models with semantic features only. Models with combined semantic and T2-weighted radiomics features achieved the highest test accuracies (93.8%, 92.3%, and 90.8% for LR, SVM, and LGB, respectively). The SVM model combined semantic features with T2-weighted radiomics features had statistically significantly better performance than semantic features only (p = 0.019). Conclusion: Our study demonstrates the significant potential of machine learning for differentiating CPA from RCCs.

Innovative advances in pediatric radiology: computed tomography reconstruction techniques, photon-counting detector computed tomography, and beyond.

In pediatric radiology, balancing diagnostic accuracy with reduced radiation exposure is paramount due to the heightened vulnerability of younger patients to radiation. Technological advancements in computed tomography (CT) reconstruction techniques, especially model-based iterative reconstruction and deep learning image reconstruction, have enabled significant reductions in radiation doses without compromising image quality. Deep learning image reconstruction, powered by deep learning algorithms, has demonstrated superiority over traditional techniques like filtered back projection, providing enhanced image quality, especially in pediatric head and cardiac CT scans. Photon-counting detector CT has emerged as another groundbreaking technology, allowing for high-resolution images while substantially reducing radiation doses, proving highly beneficial for pediatric patients requiring frequent imaging. Furthermore, cloud-based dose tracking software focuses on monitoring radiation exposure, ensuring adherence to safety standards. However, the deployment of these technologies presents challenges, including the need for large datasets, computational demands, and potential data privacy issues. This article provides a comprehensive exploration of these technological advancements, their clinical implications, and the ongoing efforts to enhance pediatric radiology's safety and effectiveness.

Investigation of Demyelination and Remyelination Processes of the Compressed Optic Chiasm: An Experimental Model.

AIM: To demonstrated demyelination and remyelination of the optic nerve histologically by electron microscopy in an experimental model similar to the compression of pituitary adenomas on the optic chiasm. MATERIAL AND METHODS: The rats were fixed to a stereotaxic device under deep anesthesia, and a balloon catheter was placed under the optic chiasm through a burr hole which was in front of the bregma in accordance with the brain atlas of rats. The animals were divided into five groups (n=8): control, mild compression demyelination, severe compression demyelination, mild compression remyelination, severe compression remyelination. The fine structures of the tissues obtained were evaluated using electron microscopy. RESULTS: We found a significant difference in the severity of degeneration when comparing group 1 with group 5 (p < 0.001); there was no degeneration in group 1 rats and severe degeneration in all of the group 5 rats. Oligodendrocytes were found in all rats in group 1 and none of the rats in no group 2. The nuclei were preserved in the group 1 rats but damaged in all of the group 5 rats. There were no lymphocytes or erythrocytes in group 1 and all positives in group 5. CONCLUSION: This technique, which induced degeneration without causing damage to the optic nerve with toxic or chemical agents, revealed Wallerian degeneration similar to tumoral compression. After compression relief, the optic nerve remyelination process can be better understood, particularly for sellar lesions. In our opinion, this model may guide future experiments to identify protocols to induce and accelerate remyelination.

The Effect of Interleukin-1 Antagonists on Brain Volume and Cognitive Function in Two Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts.

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by early-onset macrocephaly and progressive white matter vacuolation. The MLC1 protein plays a role in astrocyte activation during neuroinflammation and regulates volume decrease following astrocyte osmotic swelling. Loss of MLC1 function activates interleukin (IL)-1ß-induced inflammatory signals. Theoretically, IL-1 antagonists (such as anakinra and canakinumab) can slow the progression of MLC. Herein, we present two boys from different families who had MLC due to biallelic MLC1 gene mutations and were treated with the anti-IL-1 drug anakinra. METHODS: Two boys from different families presented with megalencephaly and psychomotor retardation. Brain magnetic resonance imaging findings in both patients were compatible with the diagnosis of MLC. The diagnosis of MLC was confirmed via Sanger analysis of the MLC1 gene. Anakinra was administered to both patients. Volumetric brain studies and psychometric evaluations were performed before and after anakinra treatment. RESULTS: After anakinra therapy, brain volume in both patients decreased significantly and cognitive functions and social interactions improved. No adverse effects were observed during anakinra therapy. CONCLUSIONS: Anakinra or other IL-1 antagonists can be used to suppress disease activity in patients with MLC; however, the present findings need to be confirmed via additional research.

Success Rate of Repeat Endoscopic Third Ventriculostomy Procedure According to the Ventriculostomy Orifice Closure Patterns: A Single Institutional Series of 74 Patients.

AIM: To analyze the success rates of repeat endoscopic third ventriculostomy (re-ETV) procedure according to ventriculostomy orifice closure types in patients who have undergone a second neuroendoscopic surgery for non-communicating hydrocephalus. MATERIAL AND METHODS: The study included 74 patients who underwent re-ETV procedure due to dysfunctional ventriculostomy orifice. Ventriculostomy closure patterns are classified into three types: Type-1 is defined as the complete closure of the orifice with non-transparent gliosis or scar tissue. Type-2 represents the closure or narrowing of the orifice by newly formed translucent membranes. Type-3 pattern is defined as the blockage of CSF flow due to newly formed reactive membranes in the basal cisterns, with an intact ventriculostomy orifice. RESULTS: The frequency of the ventriculostomy closure patterns was found as follows. Type-1: 17 cases (22.97%); Type-2: 30 cases (40.54%); and Type-3: 27 cases (36.48%). The success rate of the re-ETV procedure according to closure types was 23.52% in Type-1 cases, 46.66% in Type-2 cases, and 37.03% in Type-3 cases. A significantly higher rate of Type-1 closure pattern was observed in the myelomeningocele associated hydrocephalus cases (p < 0.01). CONCLUSION: In cases where ETV failure occurs, an endoscopic exploration with reopening of the ventriculostomy orifice is a preferable treatment option. Therefore, identifying patients who may benefit from the re-ETV procedure is essential. Type-1 closure pattern was observed to have a higher frequency in cases where hydrocephalus was associated with myelomeningocele, and the success rate of re-ETV seems to be lower in those cases.

Differentiation of pure cystic sellar lesions on magnetic resonance imaging.

BACKGROUND AND PURPOSE: Cystic pituitary adenomas and cystic craniopharyngiomas may mimic Rathke cleft cysts when there is no solid enhancing component on magnetic resonance imaging (MRI). This study aims to investigate the efficiency of MRI findings in differentiating Rathke cleft cysts from pure cystic pituitary adenoma and pure cystic craniopharyngioma. MATERIALS AND METHODS: 109 patients were included in this study (56 Rathke cleft cysts, 38 pituitary adenomas, and 15 craniopharyngiomas). Preoperative magnetic resonance images were evaluated using 9 imaging findings. These findings include intralesional fluid-fluid level, intralesional septations, midline /off-midline location, suprasellar extension, an intracystic nodule, a hypointense rim on T2-weighted images, ≥ 2 mm thickness of contrast-enhancing wall, T1 hyperintensity and T2 hypointensity. p < 0.01 was considered statistically significant. RESULTS: There was a statistically significant difference among groups for these 9 findings. Intracystic nodule and T2 hypointensity were the most specific MRI findings in differentiating Rathke cleft cyst from the others (98.1% and 100%, respectively). Intralesional septation and thick contrast-enhancing wall were the most sensitive MRI findings ruling out Rathke cleft cysts with 100% sensitivity. CONCLUSION: Rathke cleft cysts can be distinguished from pure cystic adenoma and craniopharyngioma with the presence of an intracystic nodule, T2 hypointensity, the absence of the thick contrast-enhancing wall, and absence of intralesional septations.

Neurodevelopmental Outcome in Patients with Typical Imaging Features of Injury as a Result of Neonatal Hypoglycemia.

Introduction: Previous reports described a pattern of hypoglycemia-induced damage predominantly affecting the parieto-occipital regions. The long-term neurological sequelae of severe neonatal hypoglycemic encephalopathy include developmental delay, poor head growth, learning or behavioral difficulties, visual impairment, and epilepsy. This study reports neurodevelopmental outcome of children with neonatal hypoglycemia-associated parieto-occipital brain injury who were evaluated in our pediatric neurology outpatient clinic for different neurological complaints. Methods: We retrospectively reviewed patients who were followed at Kocaeli University Hospital, Pediatric Neurology Department between 2007 and 2015. Patients (n=42) with predominately parieto-occipital lesions on magnetic resonance imaging (MRI) with the typical pattern of neonatal hypoglycemia were evaluated. Patients with documented hypoglycemia (n=21) were included in this study. Patients (n=9) with recurrent episodes of hypoglycemia longer than 12 hours were evaluated as prolonged hypoglycemia. Results: Eleven patients (52.4%) experienced seizures in the neonatal period. Eighteen patients (85.7%) developed epilepsy during the follow-up. Refractory seizures were observed in 8 patients (38.1%). Nine patients (42.9%) manifested microcephaly, seven patients (33.3%) manifested cerebral palsy. Parieto-occipital involvement and the spasticity rate were statistically high in patients with prolonged hypoglycemia (p<0.01). Two patients had autistic features and four patients (19%) had attention deficit hyperactivity disorder. VEP studies could be performed in 18 of 21 patients. All patients had abnormal VEP results. Conclusion: We are of the opinion that most patients of neonatal hypoglycemia are not always documented. Patients under risk and patients with symptoms of hypoglycemia should be vigorously screened and treated to prevent neurologic impairments including cerebral palsy, epilepsy and visual disturbance.

A single-center experience of magnetic resonance imaging findings of fetal sacrococcygeal teratomas.

BACKGROUND: Sacrococcygeal teratomas (SCT) are known as rare tumors, but they are the most common tumor in fetuses and newborns. This study aims to present fetal magnetic resonance imaging (MRI) findings of SCT diagnosed prenatally and compare them with that of the prenatal Ultrasound (US) findings. METHODS: Eleven patients diagnosed as SCT prenatally by US and further assessed by MRI are included. MRI was performed via a 1.5-T magnet with a body coil. The presence, size, content extension, and compressive effects of each mass were determined and correlated with US findings and with postnatal examinations, including surgery and pathology. As complications, the presence of ascites and skin edema or pleural or pericardial effusion was diagnosed as hydrops. The amniotic fluid index was calculated for the assessment of oligo- or polyhydramnios. RESULTS: US findings are found strongly correlated with MRI findings. An agreement on the extent of each mass was observed in eight patients, disagreement in one fetus was an extension of the tumor within the spinal canal recognized only at MR and assessment of intrapelvic-abdominal extension was superior in MRI. There were n = 6 type I, n = 2 type II, n = 1 type III and, n = 2 type IV tumors. MRI was superior to US for detecting displacement of the colon (n = 3), intrapelvic-intraabdominal extension (n = 1), urinary tract complication (n = 2), and intraspinal extension (n = 1). DISCUSSION: MRI is found to be superior to US especially in the assessment of intrapelvic and intraspinal extension of the tumor, colonic displacement, and complications.

The Endoscopic Endonasal Transsphenoidal Approach for Thyrotropin-Secreting Pituitary Adenomas: Single-Center Experience and Clinical Outcomes of 49 Patients.

OBJECTIVE: To analyze surgical outcomes and tumor characteristics of 49 patients with thyrotropin-secreting pituitary adenoma, a rare functional pituitary adenoma subtype with challenging surgery, who underwent endoscopic endonasal transsphenoidal surgery. METHODS: In this single-center study, clinical, radiological, surgical, and endocrinological data of 49 patients diagnosed with thyrotropin-secreting pituitary adenoma were retrospectively reviewed. RESULTS: Mean tumor size was 21.12 mm (6 microadenomas, 41 macroadenomas, 2 giant adenomas). Cavernous sinus invasion was present in 12 (24.48%) patients. Tumor consistency was firm in 23 (46.93%) patients. Plurihormonal secretion characteristics were present in 9 patients (5 growth hormone + thyrotropin and 4 growth hormone + prolactin + thyrotropin). Mean follow-up duration was 51.73 months. Of the cases with firm tumors, 14 patients had a history of antithyroid drug use; there was no statistically significant correlation between the antithyroid medication and the firmness of the tumor. Gross total resection was achieved in 32 (65.30%) cases, near-total resection was achieved in 14 (28.57%) cases, and subtotal resection was achieved in 3 (6.12%) cases. The analysis showed that the negative effect of >2 cm tumor size and cavernous sinus invasion on resection rate was statistically significant (P < 0.001). Although early remission was achieved in 33 (67.34%) patients, 44 (89.79%) patients were in euthyroid state at >3 months' follow-up. Complications were 4 new-onset pituitary deficiencies, 3 cases of permanent diabetes insipidus, 1 thyrotoxic crisis, and 1 cerebrospinal fluid leak. CONCLUSIONS: Endoscopic endonasal transsphenoidal surgery is the first-line treatment in thyrotropin-secreting pituitary adenoma and should be performed in a tertiary center. Gross total resection is the goal, and early diagnosis is essential for surgical success.

Progressive MRI findings of West Nile virus encephalitis in a patient with diabetes mellitus.

A man in his 70s was admitted to our hospital with complaints of fatigue, loss of appetite and fever. His neurological examination was normal. He had a medical history of diabetes mellitus for 25 years. Urine analysis showed many leucocytes. Empirical antibiotic treatment was started for urinary system infection. Three days later, his mental status worsened with confusion and disorientation. MRI of the brain was normal. Two days later, the patient was intubated because of respiratory insufficiency. MRI showed restricted diffusion in bilateral thalamic nuclei. Encephalitis and ischaemia were considered in the differential diagnosis. Cerebrospinal fluid IgM antibody for West Nile virus was positive. Sixteen days later, cranial nerve reflexes were lost. MRI showed restricted diffusion and increased T2 signal intensity in the dorsal medulla and increased T2 signal intensity without diffusion restriction in bilateral substantia nigra and dentate nuclei. He died of cardiac arrest 40 days after hospitalisation.

Evaluation of MR-Tractography Findings in Hemifacial Spasm Patients Injected with Botulinum Neurotoxin.

Background and Introduction: Botulinum neurotoxin (BoNT) is a potent biological toxin extracted from Clostridium Botulinum bacteria. BoNT injection is mainly used for medical purposes; it is frequently used for cosmetic purposes as well. The hypothesis that frequent application of this treatment modality may also affect the central nervous system constitutes the subject of our study. Objective: We aimed to demonstrate the possible central effects of BoNT in hemifacial spasm patients. Methods and Materials: Diffusion tensor imaging was used for this study. Patients were divided into two groups, and the measured values for each determined bilateral neuroanatomic region were compared within the relevant group. Results: Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values were found to be closer to the pathological values in the right motor cortex and in the left internal capsule areas of the patients who were injected with BoNT into the left side, in the left motor cortex area of the patients who were injected with BoNT into the right side. No significant changes were detected in other regions. Conclusion: Botulinum neurotoxin administration in patients with hemifacial spasms may cause some changes in the central nervous system as well as peripheral effects. In the case of similar studies supporting pathological changes, BoNT treatment modalities or appropriate indications may be reviewed, and regulation on excessive cosmetic use may be in question.

Angioedema-like presentation as the presenting finding of juvenile myositis and juvenile dermatomyositis in 2 patients.

BACKGROUND: Juvenile dermatomyositis (JDM) is the most common subtype of idiopathic inflammatory myopathies in childhood. Gottron's papules, shawl sign, periorbital heliotrope rash, and periungual telengiectasis are characteristic skin findings of the disease. Besides characteristic skin involvement, some other skin findings, such as angioedema, may be seen prior or in the course of the disease. The presence of angioedema in JDM is emphasized in this report. CASE PRESENTATIONS: We present 2 unrelated girls, aged 2 (case 1) and 12 years (case 2), who had developed symmetrical weakness in the proximal muscles, muscle pain, elevated muscle enzymes and angioedema. Both cases had abnormal muscle magnetic resonance imaging findings, suggestive of inflammatory myositis. Muscle biopsy was performed only in case 1, and major histocompatibility complex-1 expression on myofibers was shown consistent with JDM. Cases were diagnosed as probable and definite JDM, respectively. Angioedema was prominent, particularly in the lips and extremities of both cases, without laboratory evidence of C1 inhibitor deficiency or capillary leak syndrome, and absence of family history. Mast cell-mediated, acquired angioedema was the most likely diagnosis. In both cases, skin and muscle findings improved significantly with steroid treatment. CONCLUSION: We suggest that angioedema may be among the characteristic skin findings in JDM, and may be included in subsequent definitions.

Evaluation of optic nerve diameters in individuals with neurofibromatosis and comparison of normative values in different pediatric age groups.

AIM: Our study aimed to report the normative values for optic nerve diameter in different age groups in MR imaging (MRI) in the pediatric population and to find a cut-off value for diagnosis in different age groups to be used for the diagnosis of optic glioma in patients with Neurofibromatosis 1(NF1). MATERIALS-METHODS: Orbital MRI obtained from 2011 to 2021 for children with and without NF1 were reviewed. Patients were divided into three groups: NF1 with glioma (group 1, n = 38), NF1 without glioma (group 2, n = 57), and healthy controls (group 3, n = 295). Two radiologists assessed diameter and tortuosity using validated criteria. The optic nerve measurements were obtained by two radiologists in two plans (axial and coronal sections) at five locations; retroocular, midsegment, and prechiasmatic segment on axial plane and retroocular segment and chiasmatic on coronal plane. RESULTS: Optic nerves were divided into 4 age groups: 0-2 years, 2-6 years, 6-12 years, and 12-18 years. It was observed that optic nerve diameters increased with age in healthy individuals. In subjects in groups 1 and 2, the mean diameter of the optic nerve was significantly greater at all locations compared with control individuals. Tortuosity scores were significantly associated in NF1 subjects with optic glioma than in NF1 subjects without optic glioma. CONCLUSION: We present the normative values obtained by measuring optic nerve diameters in pediatric populations (0-18 years) on MRI of our center. A rapid increase in optic nerve diameter was observed in the first 6 years of life, followed by a slower increase. Quantitative reference values for optic nerve diameter will benefit the development of objective diagnostic criteria for optic nerve gliomas (ONGs) secondary to NF1.

BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy.

Three siblings born to Turkish parents from the same village had normal brain development until acute neurological deterioration between 12 months and 8 years of age. Consequent loss of all acquired motor, social, and language functions following infections was associated with a pontine cyst, calcification, and cerebellar atrophy. Exome sequencing revealed a homozygous c.1297G>A (p.Gly433Ser) alteration in BEND4, which was predicted to be deleterious in in silico analysis tools and segregated in multiple affected individuals in the family. BEND4 has not been associated with any existing disease. Immunofluorescence microscopy analysis of wild-type and mutant BEND4 expressing Vero cells showed nuclear and cytoplasmic localization. Wild-type BEND4 displayed a network-like distribution, whereas mutant BEND4 showed a juxtanuclear distribution pattern. Differential proteome analysis of Vero cells expressing BEND4 revealed that mutant BEND4 expression caused selective increase in reticulocalbin-1 and endoplasmic reticulum resident protein-29. Both proteins are associated with the endoplasmic reticulum and are primarily involved in protein processing and folding pathways. Any defect or stress in protein folding creates stress on cells and may cause chronic damage. This is the first study showing that pathogenic BEND4 variants may lead to an infection-induced acute necrotizing encephalopathy as demonstrated in characteristic neuroimaging findings.

Recurrent Blistering Skin Lesions and Reversible Monocular Abducens Paralysis in a Patient with CD59 Deficiency.

Congenital CD59 deficiency is an autosomal recessive disease characterized by mild-to-moderate chronic intravascular hemolysis, relapsing demyelinating peripheral neuropathies, and recurrent ischemic central nervous system strokes. We report a 2-year-old Turkish girl with a history of two episodes of Guillain-Barré syndrome-like acute weakness, reversible monocular abducens paralysis, and recurrent blistering skin lesions during periods of upper respiratory tract infections. Reversible monocular abducens palsy and recurrent blistering skin lesions have not been reported previously in cases of congenital CD59 deficiency.

Endoscopic approach for giant pituitary adenoma: clinical outcomes of 205 patients and comparison of two proposed classification systems for preoperative prediction of extent of resection.

OBJECTIVE: Giant pituitary adenoma is considered a challenging pathology for surgery owing to its complications and low resection rate. In this study, the authors present their experience of using the endoscopic endonasal approach to treat patients with giant pituitary adenoma, and they aimed to develop a classification system for prediction of extent of resection. METHODS: The institutional medical records of patients diagnosed with giant pituitary adenoma who underwent endoscopic endonasal transsphenoidal surgery between August 1997 and December 2019 were retrospectively reviewed. Surgical and clinical outcomes were evaluated in detail. The effects of tumor characteristics on extent of resection were analyzed. The findings were used to develop two classification systems that could preoperatively predict extent of resection. Morphological score was based on tumor characteristics, and landmark-based classification was defined according to surgical zones based on neurovascular landmarks. The effects of change in surgical strategy, which aimed to maximize tumor resection and capsule dissection, on rates of resection and complications were evaluated before and after 2017. RESULTS: This study included 205 patients, with a mean patient age of 46.95 years and mean preoperative tumor diameter of 46.56 mm. Gross-total resection (GTR) was achieved in 35.12% of patients, near-total resection (NTR) in 39.51%, and subtotal resection (STR) in 25.36%. Extent of resection differed significantly between the grades and zones of the classification systems (p < 0.001 for both). Among patients with grade 3 tumor, 75.75% of patients achieved STR, 21.21% achieved NTR, and 3.03% achieved GTR. Among patients with zone 3 tumor, 65.75% achieved STR, 32.87% achieved NTR, and 1.36% achieved GTR. Both grade 3 and zone 3 indicated limited extent of resection. The mean (range) follow-up duration was 50.16 (9-247) months. Postoperative recovery of at least one hormone axis was seen in 15.24% of patients with pituitary deficiency, and development of new hormonal deficiency was observed in 22.43% of patients. Complications included permanent diabetes insipidus (7.80%), cerebrospinal fluid leakage (3.90%), postoperative apoplexy (3.90%), meningitis (3.41%), and epistaxis (3.41%). The surgical mortality rate was 1.46%. Among 85 patients treated before 2017, 27.05% of patients achieved GTR, 37.64% achieved NTR, and 35.29% achieved STR; among 120 patients treated after 2017, 40.83% achieved GTR, 40.83% achieved NTR, and 18.33% achieved STR. Seven patients in the pre-2017 cohort had postoperative apoplexy versus only 1 patient in the post-2017 cohort. There were no statistically significant differences between the two periods in terms of the incidence rates of other complications. CONCLUSIONS: Capsule dissection and GTR are valuable for preventing serious complications and reducing recurrence of giant adenoma. Treatment of giant pituitary adenoma may be better managed with the help of a classification system that provides information about extent of resection that can be achieved with an endoscopic approach.