Simultaneous Sudden Hearing Loss and Peripheral Facial Paralysis in a Patient With Covid-19.

Although peripheral facial paralysis and sudden sensorineural hearing loss are not as common as anosmia, they are reported neurological manifestations of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We present a 62-year-old, serologically COVID-19 positive woman with seventh and eighth nerve involvement showed electrophysiologically with Auditory Brainstem Response and electroneurography and radiologically with internal acoustic canal magnetic resonance imaging. This single case report suggests a possible association between the SARS-CoV-2 infection with simultaneous sudden sensorineural hearing loss and isolated facial paralysis. However, further studies are needed to determine whether this relationship is coincidental or occasional.

First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature.

Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary familial brain calcification (AR-PFBC). Although adult patients have been reported, no pediatric case has been reported until now. Herein, we review the clinical and radiological features of all AR- PFBC patients with biallelic variants in the MYORG gene who were reported until now, and we report the youngest patient who has a novel homozygous variant. Since the first identification of the MYORG gene in 2018, 74cases of MYORG variants related to AR-PFBC were evaluated. The ages of symptom onset of the patients ranged between 7.5 and 87 years. The most frequent clinical courses were speech impairment, movement disorder and cerebellar signs. All patients showed basal ganglia calcification usually bilaterally with different severities. Conclusion; herein, we reported the first pediatric patient in the literature who had a novel homozygous variant in the MYORG gene with mild clinic findings.

Is fetal magnetic resonance imaging indicated in patients with isolated ventriculomegaly?

OBJECTIVE: Ventriculomegaly is one of the most common anomalies encountered at obstetric ultrasound and it necessitates follow up. Fetal magnetic resonance imaging (MRI) can be used to confirm the ultrasound diagnose or to detect additional anomalies. Aim of this study is to assess follow up and management of fetal ventriculomegaly shown by ultrasound, and to evaluate additional diagnostic contribution of MRI. STUDY DESIGN: This study was conducted retrospectively including 89 patients who had fetal MRI subsequent to ultrasound diagnose of ventriculomegaly in between 2011-2017. Medical records of patients were investigated and accompanying anomalies, congenital infection, chromosomal examination, degree and progression of ventriculomegaly, neonatal imaging and diagnose, and neurodevelopmental findings on follow up were evaluated. Patients were classified in two groups as isolated and nonisolated ventriculomegaly, and subgroups mild, moderate, severe were formed according to their findings. SPSS 23.0 programme was used for statistical analysis. RESULTS: Ultrasound and following MRI was performed in a range of 18-35th gestational weeks, diagnoses were isolated ventriculomegaly for 56 patients and nonisolated ventriculomegaly for 33 patients. Progression and neurodevelopmental delay was higher in severe nonisolated ventriculomegaly group. There was not significant contribution of MRI in the follow up of isolated ventriculomegaly (p < 0.001), and diagnostic imaging findings declined in neonatal period with proceeding normal neurodevelopment in 92.7% of patients followed with diagnosis of isolated ventriculomegaly. CONCLUSION: When isolated ventriculomegaly is detected, ultrasound performed by an experienced team is mostly sufficient. MRI can be used in suspicious cases or when ventriculomegaly progresses.

Complications of Formaldehyde Injection for a Cystic Mass of the Neck.

Formaldehyde is a colorless reactive chemical with suffocating and pungent odor. It is irritant to mucous membranes and can enter the body by either oral ingestion or inhalation. Formaldehyde is toxic to living tissue. In this report, we present the case of a 22-year-old woman who was treated with formaldehyde injection for a cystic mass of the neck with developing complications.

Endovascular Treatment of a Patient with Moyamoya Disease and Seckel Syndrome: A Case Report.

Seckel syndrome and Moyamoya diseases are different entities that rarely associated with each other. Several cases presenting with both these diseases were reported. Intracerebral artery aneurysms and collateral vessels can be seen with Moyamoya. They are commonly treated with medical treatment. We present a 12-years old patient with both Seckel syndrome and Moyamoya disease presented with middle cerebral artery aneurysm which was treated with endovascular modalities.

Measurements of Retinal Nerve Fiber Thickness and Ganglion Cell Complex in Neurofibromatosis Type 1, with and Without Optic Pathway Gliomas: A Case Series.

PURPOSE: The aim of this study was to investigate differences in retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) thicknesses in neurofibromatosis 1 (NF1) cases, with and without optic pathway gliomas (OPGs). MATERIALS AND METHODS: In total, 33 eyes of 33 subjects were evaluated in this prospective observational case series. Twenty-one patients with a diagnosis of NF1 were enrolled. Patients with NF1 and OPGs were included in Group 1 (n = 9), and patients with NF1 without OPGs were included in Group 2 (n = 12). The control group (Group 3) was comprised of 12 age- and sex-matched subjects with no history of ophthalmic or systemic diseases. All of the subjects underwent complete ophthalmic examinations, including best-corrected visual acuity (BCVA), slit lamp microscopy, and indirect ophthalmoscopy. Additionally, optical coherence tomography (OCT) measurements were obtained. RESULTS: There were no statistically significant between-group differences in age and sex (p = 0.227 and 0.986, respectively). The average RNFL thickness in Group 1 (NF1 patients with OPGs) was significantly lower than in Groups 2 and 3 (86.6 ± 22.5, 107.4 ± 6.65, and 108.4 ± 5.05 µm, respectively; p = 0.001). Furthermore, the average GCC thickness in Group 1 was significantly lower than in Groups 2 and 3 (78.6 ± 16.3, 94.8 ± 3.55, and 94.9 ± 3.82 µm, respectively; p < 0.001). CONCLUSIONS: Both RNFL and GCC thicknesses were significantly lower in NF1 patients with OPGs. The use of OCT to quantify damage to the visual pathway may enable earlier detection of OPGs in NF1 patients.

Prognostic Impact of Histologic Subtype in Non-Small Cell Lung Cancer Patients Treated with Gamma Knife Radiosurgery: Retrospective Analysis of 104 Patients.

AIM: In this study, factors affecting survival, local failure, distant brain failure, whole brain failure and whole-brain radiation therapy (WBRT) free survival according to histological subtypes were investigated in patients with brain metastases from non-small cell lung cancer (NSCLC). MATERIAL AND METHODS: Patients with positive pathology reports for adenocarcinoma (ACA) and squamous cell carcinoma (SCC) were included in the study. Seventy-eight ACA and 26 SCC patients were included in the study. Patients with previous history of cerebral metastasis surgery and WBRT were excluded from the study. RESULTS: The median survival was calculated as 12.6 months for patients with ACA and 5.9 months for patients with SCC. One-year distant brain failure was calculated as 65.1% in ACA patients and 39.6% in SCC patients. One-year whole brain failure was calculated as 58.1% in ACA patients and 39.6% in SCC patients. The one-year freedom from WBRT rate was calculated as 72.8% in ACA patients and 56.3% in SCC patients. SCC histology was considered as a significant factor in deterioration of overall survival in multivariate analysis. SCC histology, the increase in the number of metastases and RPA class were factors that caused an increase in distant brain failure. Also, SCC histology, the increase in the number of metastases and RPA class were factors that caused an increase in whole brain failure. CONCLUSION: SCC histology may be an important prognostic factor for overall survival. Also, due to high distant brain failure rate in SCC histology, WBRT can be added to treatment early.

Hemodialysis-induced repolarization abnormalities on ECG are influenced by serum calcium levels and ultrafiltration volumes.

PURPOSE: Hemodialysis (HD) patients are known to have high cardiovascular mortality rate. Sudden cardiac death (SCD) due to arrhythmias causes most of the cardiac deaths. HD per se may lead to ECG abnormalities and ventricular arrhythmias. Monitoring ECG parameters such as corrected QT interval, QT dispersion (QTd), Tpe interval may be useful to stratify the patients with high risk of arrhythmia and SCD. Herein we aimed to investigate the effects of changes in serum electrolyte levels and pH on ECG parameters before and after the HD. METHODS: A total of 50 chronic HD patients (mean age 58 ± 19; male 27) were enrolled. Patients with unmeasurable T waves; atrial fibrillation; bundle branch block; use of class I or class III antiarrhythmic drugs were excluded. Serum potassium, magnesium, calcium, urea, creatinine and pH were measured before and after HD treatment. Standard surface 12-lead ECGs were recorded before and after HD. QTc, QTd, Tpe, JT interval, P-wave-duration, P-wave dispersion were determined. RESULTS: Serum potassium and magnesium decreased, and calcium, pH and bicarbonate levels increased; QRS and Tpe interval were increased after HD. Basal Tpe was correlated with urea (r = 0.31, p = 0.02). Tpe interval was higher in hypocalcemic compared to normocalcemic patients (77 ± 11 vs 70 ± 9 ms, p = 0.02). ∆Tpe was correlated with ∆calcium (r = -0.32, p = 0.02). Basal QTc was correlated with calcium (r = -0.62, p < 0.001). ∆QTc was correlated with basal calcium (r = 0.39, p = 0.005) and ∆calcium (r = -0.46, p < 0.001). Basal JT was correlated with calcium (r = -0.55, p < 0.001). ∆JT was correlated with pH (r = 0.35, p = 0.01), ∆calcium (r = -0.53, p < 0.001) and ∆magnesium (r = -0.30, p = 0.03). Before HD, 12 patients (12%) were hypermagnesemic of whom JT intervals were lower (314 ± 20 vs 332 ± 23 ms, p = 0.02). Ultrafiltration per body weight was associated with ∆QTc (r = -0.40, p = 0.007) and ∆JT (r = -0.36, p = 0.01). CONCLUSION: QRS and Tpe intervals were increased after HD. Tpe interval was longer in hypocalcemic patients. Change in Tpe was negatively associated with the change in calcium. Ultrafiltration was associated with ∆QTc and ∆JT. Calcium and ultrafiltration seem to be the most important determinants of ECG parameters of HD-induced repolarization abnormalities.

Neuromyelitis optica mimics the morphology of spinal cord tumors.

Neuromyelitis optica (NMO) is an autoimmune disorder of the central nervous system, that predominantly affects the spinal cord and the optic nerve. Its key features include transverse myelitis, commonly associated with extensive inflammation spanning three or more consecutive vertebral segments. Longitudinal extensive spinal cord lesions can also occur in systemic autoimmune diseases, infections, vascular and metabolic disorders, subsequent to irradiation, intramedullary tumors and paraneoplastic myelopathies. We present a case study of an 8-year-old girl seropositive for antibodies against the aquaporin 4 who displayed longitudinal extensive spinal cord lesions, that was initially misdiagnosed as an intramedullary tumor.

Tuberous sclerosis complex; single center experience.

AIM: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. MATERIALS AND METHOD: Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. RESULTS: It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain with imaging in 17. No cardiac involvement was observed in the patients. Infantile spasm was observed in 7 of the patients who presented because of seizure (n=17), partial seizure was observed in 7 and multiple seizure types were observed in 3. It was found that sirolimus treatment was given to 9 of 20 patients because of different reasons, 7 of these 9 patients had epileptic seizures and sirolimus treatment had no effect on epileptic seizures. According to 2012 diagnostic criteria, no marked change occured in the diagnoses of our patients. CONCLUSIONS: It was observed that the signs and symptoms of our patients were compatible with the literature. Molecular genetic examination was planned for the patients who were being followed up because of probable tuberous sclerosis complex. It was observed that sirolimus treatment had no marked effect on the seizure frequency of our patients.

Diagnostic value of T2*-weighted gradient-echo MRI for segmental evaluation in cerebral venous sinus thrombosis.

OBJECTIVE: We evaluated the diagnostic value of gradient-echo (GRE) imaging in patients with "cerebral venous and sinus thrombosis" (CVST). MATERIALS AND METHODS: In total, 130 thrombosed venous segment signal intensities in 45 patients with CVST were analyzed retrospectively using magnetic resonance imaging and magnetic resonance venography. RESULTS: The T2* GRE sequence had a diagnostic value for detecting acute and subacute superior sagittal sinus (SSS) thrombosis and thrombosis of the deep veins (DVs), and cortical veins (CVs; P<.05). CONCLUSIONS: The T2* GRE sequence had a high diagnostic value for detecting both acute and subacute SSS, DV, and CV thromboses.

Optic neuritis as a presenting symptom of Mycoplasma pneumoniae infection.

A broad range of neurologic disorders has been described in children infected with Mycoplasma pneumoniae, of which encephalitis is among the most common. In contrast, the association between optic neuritis and Mycoplasma pneumoniae infection has been rarely described in children. We report a case of a 12-year-old girl who was seropositive for antibodies against Mycoplasma pneumoniae and presented with optic neuritis without respiratory symptoms or other neurologic findings.

Acute disseminated encephalomyelitis in children and adolescents: a single center experience.

BACKGROUND: Acute disseminated encephalomyelitis is an immune-mediated disease that produces multiple inflammatory lesions in the brain and spinal cord. METHODS: This study retrospectively evaluated 15 children with acute disseminated encephalomyelitis in children and adolescents from a single institution in Adana, Turkey. RESULTS: The patients presented in a seasonal distribution, with 73.3%: (11/15) presenting in winter or spring. The majority of patients (13/15, 86.7%) had a history of acute febrile illness 2 to 40 days before presentation, and five children had serologic evidence of specific triggers: mycoplasma (2 children), influenza-A (H1N1) (1 child), or Epstein-Barr virus. All children were treated with a standard protocol of 3 to 5 days of intravenous administration of methylprednisolone and intravenous immunoglobulin for patients who continued to deteriorate. Oseltamivir and clarithromycin were administered in patients with influenza-A (H1N1) and mycoplasma according to the serology. In 13 patients, all neurologic signs and symptoms resolved after treatment. Only one patient was left with severe neurologic sequelae and another child had recurrent attacks and was ultimately diagnosed with possible multiple sclerosis. CONCLUSIONS: The present series demonstrates that acute disseminated encephalomyelitis in children occurs predominantly in winter or spring and often follows an upper respiratory tract illness for those along the southern coast of Anatolia (Mediterranean region). Early treatment with immunomodulative agents is recommended and is likely to result in a favorable outcome or full recovery. This study also suggests benefit from antiviral and antibiotic treatment initiated as soon as possible after the onset of illness.

Involvement of the globus pallidus in giant axonal neuropathy.

Giant axonal neuropathy is a rare autosomal recessive disorder commonly characterized by chronic, progressive dysfunction in the peripheral nervous system. Lesions also can occur in the central nervous system, especially in the brainstem and cerebellum. We present cranial magnetic resonance imaging and magnetic resonance spectroscopy findings in a 5-year-old Turkish girl with giant axonal neuropathy. This study is the second to describe involvement of the globus pallidus on T(2)-weighted imaging in giant axonal neuropathy. Magnetic resonance spectroscopy of cerebellar white matter lesions and globus pallidus revealed metabolic changes, including increased choline/creatine ratios, increased lactate, and reduced N-acetyl aspartate/creatine ratios. Thus, magnetic resonance spectroscopy did not produce findings specific to giant axonal neuropathy, but indicated progressive neuronal loss, demyelination, and gliosis in the cerebellar white matter.

Isolated inferior sagittal sinus thrombosis caused by a rare combination of elevated lipoprotein (a) and iron deficiency anemia.

A 21-year-old woman was admitted with right hemiparesis, bilateral papilledema, negative myoclonus of right upper extremity, and bilateral pyramidal findings. An MRI showed no venous flow in the inferior sagittal sinus. Lipoprotein a (Lp [a]) level was high and iron deficiency anemia (IDA) was found. The coexistence of IDA and Lp (a) in patients with cerebral venous thrombosis is a very rare condition in adult patients. These risk factors should be investigated in patients with cerebral venous thrombosis.

Comparison of E-selectin and the other inflammatory markers in lumbar disc herniation: a new promising therapeutical window for radicular pain.

STUDY DESIGN: Histopathologic and immunohistochemical analysis of the herniated disc specimens obtained from 50 patients who had unilateral persistent radicular pain or unilateral radicular motor paresis. OBJECTIVE: The aim of this study was to investigate the prevalence of inflammatory cells in lumbar disc herniations (LDH) and compare the prevalence of leukocyte adhesion protein "E-selectin" with other inflammatory cells such as T cells, B cells, and macrophages. SUMMARY OF BACKGROUND: Studies on inflammatory cells and biochemical mediators of inflammation have suggested that these factors may play an important role in pathophysiology of radicular pain, and the medical therapy was formed against to block these cells and inflammatory cytokines. METHODS: The herniated disc specimens obtained from 50 patients who had unilateral persistent radicular pain or unilateral radicular motor paresis were microscopically examined after staining with monoclonal antibodies of CD20, CD45, CD68, and E-selectin. Relative risk assessment of the straight-leg raising (SLR) test positivity or negativity with CD20, CD45, CD68, and E-selectin staining was investigated. RESULTS: Our data emphasize that, the cases with positive SLR test had higher rates of immunostaining with E-selectin and CD45. There were no statistically significant relationship between SLR positivity and CD20 and CD68. CONCLUSIONS: We suggest that E-selectin is as valuable as the other well-known inflammatory markers in the pathogenesis of LDH. In our opinion, beside the well-known nonsteroidal anti-inflammatory drugs, antagonists targeting E-selectin can be potentially effective therapeutics for controlling inflammation in LDH.

Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging.

Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by intellectual disability, hypotonia, ataxia, tachypnea/apnea, and abnormal eye movements. A pathognomonic midbrain-hindbrain malformation seen on cranial magnetic resonance imaging (MRI), which consists of hypoplasia of the midline cerebellar vermis that resembles the cross-section through a molar tooth, has been described previously. The molar tooth sign is defined by a peculiar appearance resembling a molar tooth secondary to an abnormally deep interpeduncular fossa and enlarged superior cerebellar peduncles on axial images at the pontomesencephalic level. The term Joubert Syndrome and Related Disorders (JSRD) has recently been adopted to describe all disorders presenting the "molar tooth sign" (MTS) on brain imaging. JSRD is characterized by lack of decussation of the superior cerebellar peduncles, central pontine tracts and corticospinal tracts suggesting defective axon guidance. Prenatal sonographic findings in fetuses with JSRD are relatively nonspecific and include increased nuchal translucency, enlarged cisterna magna, cerebellar vermian agenesis, occipital encephalocele, ventriculomegaly and polydactyly. We report a case of JSRD detected prenatally at 23 weeks of gestation. The fetus in the present case had a normal karyotype. Sonographic features of the fetus included polydactyly, partial vermian hypoplasia, dilated 4(th) ventricle and mild ventriculomegaly which were also confirmed by prenatal MRI. MTS was demonstrated in a postnatal MRI after pregnancy termination.

Multidetector computed tomography diagnosis of ileal and antropyloric gallstone ileus.

Gallstone-induced ileus is a rare complication of cholelithiasis, and gastric outlet obstruction is even rarer. We describe the multidetector computed tomographic diagnosis of small bowel obstruction resulting from a gallstone impacted in the distal ileum and of gastric outlet obstruction from a gallstone impacted in the pyloric antrum (Bouveret syndrome).