scholarly journals Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Erin Conboy ◽  
Filippo Vairo ◽  
Darrel Waggoner ◽  
Carole Ober ◽  
Soma Das ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Developmental Delay ◽  
Brain Mri ◽  
Craniofacial Anomalies ◽  
Juvenile Onset ◽  
Caudate Nuclei ◽  
The Third ◽  
Cerebral Anomalies ◽  
The Brain ◽  
Congenital Malformation Syndrome

ACTB encodes the β-actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB.

Wernicke’s encephalopathy-induced hearing loss complicating sleeve gastrectomy

2020 ◽  
Vol 13 (9) ◽  
pp. e233144
Author(s):  
Elaf Abdulnabi Mohammed ◽  
Sulaiman Ali Hajji ◽  
Khaled Aljenaee ◽  
Mohammad Ibrahim Ghanbar
Keyword(s):  
Hearing Loss ◽  
Sleeve Gastrectomy ◽  
Magnetic Resonance ◽  
Brain Mri ◽  
Wernicke’S Encephalopathy ◽  
Wernicke's Encephalopathy ◽  
High Signal ◽  
Inversion Recovery Imaging ◽  
Successful Recovery ◽  
The Brain

A 25-year-old woman brought to the hospital with symptoms of acute confusion, disorientation, diplopia, hearing loss and unsteady gait which started 4 days prior to her presentation with rapid worsening in its course until the day of admission. She had a surgical history of laparoscopic sleeve gastrectomy 2 months earlier which was complicated by persistent vomiting around one to three times per day. She lost 30 kg of her weight over 2 months and was not compliant to vitamin supplementation. CT of the brain was unremarkable. Brain MRI was done which showed high signal intensity lesions involving the bilateral thalamic regions symmetrically with restricted diffusion on fluid-attenuated inversion recovery imaging. Other radiological investigations, such as magnetic resonance venography and magnetic resonance angiography of the brain were unremarkable. An official audiogram confirmed the sensorineural hearing loss. A diagnosis of Wernicke’s encephalopathy due to thiamin deficiency post-sleeve gastrectomy was made based on the constellation of her medical background, clinical presentation and further supported by the distinct MRI findings. Consequently, serum thiamin level was requested and intravenous thiamin 500 mg three times per day for six doses was started empirically, then thiamin 250 mg intravenously once daily given for 5 more days. Marked improvement in cognition, eye movements, strength and ambulation were noticed soon after therapy. She was maintained on a high caloric diet with calcium, magnesium oxide, vitamin D supplements and oral thiamin with successful recovery of the majority of her neurological function with normal cognition, strength, reflexes, ocular movements, but had minimal resolution of her hearing deficit. Serum thiamin level later was 36 nmol/L (67–200).

scholarly journals Rare Occurrence of Internal Auditory Canal Stenosis Accompanied With Congenital Facial Palsy in a 3-Month-Old Infant: A Case Report

2020 ◽  
Vol 44 (3) ◽  
pp. 256-259
Author(s):  
Se-Heum Park ◽  
Woo-Jin Kim ◽  
Yun-Jung Lim ◽  
Cheol-Won On ◽  
Ji-Ho Park ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Developmental Delay ◽  
Facial Palsy ◽  
Internal Auditory Canal ◽  
Magnetic Resonance Imaging Scan ◽  
Developmental Assessment ◽  
Canal Stenosis ◽  
The Brain ◽  
Tomography Scan

Internal auditory canal (IAC) stenosis with hypoplasia of the facial and vestibulocochlear nerves is a rare cause of congenital facial palsy. In this case report, a 3-month-old female infant was referred for a neurological developmental assessment for developmental delay and congenital facial palsy. Upon evaluation of developmental delay, hearing loss was detected. Following a magnetic resonance imaging scan of the brain and a computed tomography scan of the temporal bone, IAC stenosis with hypoplasia of facial and vestibular nerves was diagnosed. This is a rare case of IAC stenosis in an infant with initial presentations of left facial palsy and developmental delay associated with hearing loss in the left ear. We strongly suggest that IAC stenosis be considered a cause of congenital facial palsy in infants, especially in patients with developmental delay. In infants with congenital facial palsy, a thorough physical examination and neurological developmental assessment should be performed.

ADRENOCORTICAL FUNCTION IN PATIENTS WITH ACUTE SEVERE BRAIN AND PITUITARY LESION

1962 ◽  
Vol 40 (2) ◽  
pp. 254-262 ◽  
Author(s):  
H. H. Bassøe ◽  
R. Emberland ◽  
E. Glück ◽  
K. F. Støa
Keyword(s):  
Pituitary Gland ◽  
Adrenal Cortex ◽  
Artificial Ventilation ◽  
Practical Significance ◽  
Adrenocortical Function ◽  
The Third ◽  
Low Levels ◽  
Pituitary Lesion ◽  
Steroid Excretion ◽  
The Brain

ABSTRACT The steroid excretion and the plasma corticosteroids were investigated in three patients with necrosis of the brain and of the pituitary gland. The patients were kept alive by artificial ventilation. In two of the patients the neutral 17-ketosteroids and the 17-hydrocorticosteroids fell to extremely low levels. At the same time, the number of eosinophil cells showed a tendency to increase. Corticotrophin administered intravenously twice to the third patient had a stimulating effect on the adrenal cortex. The theoretical and practical significance of these findings is discussed.

The Meditations

2017 ◽  
Author(s):  
Walter Ott
Keyword(s):  
Perceptual Experience ◽  
Developmental Reading ◽  
Basic Structure ◽  
Brain Image ◽  
The Real ◽  
The Third ◽  
Real Work ◽  
Sensible Qualities ◽  
The Brain

Despite its difference in aspiration, the Meditations preserves the basic structure of perceptual experience outlined in Descartes’s earliest works. The chapter explores Descartes’s notion of an idea and uses a developmental reading to clear up the mystery surrounding material falsity. In the third Meditation, our protagonist does not yet know enough about extension in order to be able to tell whether her idea of cold is an idea of a real feature of bodies or merely the idea of a sensation. By the time she reaches the end of her reflections, she has learned that sensible qualities are at most sensations. As in his earliest stages, Descartes believes that the real work of perceiving the geometrical qualities of bodies is done by the brain image, which he persists in calling an ‘idea,’ at least when it is the object of mental awareness.

scholarly journals Content-Based Estimation of Brain MRI Tilt in Three Orthogonal Directions

2021 ◽  
Author(s):  
Pooja Prabhu ◽  
A. K. Karunakar ◽  
Sanjib Sinha ◽  
N. Mariyappa ◽  
G. K. Bhargava ◽  
...  
Keyword(s):  
Large Scale ◽  
Brain Mri ◽  
Similarity Measures ◽  
Principal Component ◽  
Brain Anatomy ◽  
Morphological Operations ◽  
Mr Images ◽  
Tilt Correction ◽  
Brain Mr Images ◽  
The Brain

AbstractIn a general scenario, the brain images acquired from magnetic resonance imaging (MRI) may experience tilt, distorting brain MR images. The tilt experienced by the brain MR images may result in misalignment during image registration for medical applications. Manually correcting (or estimating) the tilt on a large scale is time-consuming, expensive, and needs brain anatomy expertise. Thus, there is a need for an automatic way of performing tilt correction in three orthogonal directions (X, Y, Z). The proposed work aims to correct the tilt automatically by measuring the pitch angle, yaw angle, and roll angle in X-axis, Z-axis, and Y-axis, respectively. For correction of the tilt around the Z-axis (pointing to the superior direction), image processing techniques, principal component analysis, and similarity measures are used. Also, for correction of the tilt around the X-axis (pointing to the right direction), morphological operations, and tilt correction around the Y-axis (pointing to the anterior direction), orthogonal regression is used. The proposed approach was applied to adjust the tilt observed in the T1- and T2-weighted MR images. The simulation study with the proposed algorithm yielded an error of 0.40 ± 0.09°, and it outperformed the other existing studies. The tilt angle (in degrees) obtained is ranged from 6.2 ± 3.94, 2.35 ± 2.61, and 5 ± 4.36 in X-, Z-, and Y-directions, respectively, by using the proposed algorithm. The proposed work corrects the tilt more accurately and robustly when compared with existing studies.

scholarly journals Innumerable cerebral microbleeds in hepatitis B virus-related decompensated liver cirrhosis: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Chi Hyuk Oh ◽  
Jin San Lee
Keyword(s):  
Liver Cirrhosis ◽  
Hepatic Encephalopathy ◽  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Brain Mri ◽  
Cerebral Microbleeds ◽  
Amyloid Angiopathy ◽  
Decompensated Liver Cirrhosis ◽  
B Virus ◽  
The Brain

Abstract Background Cerebral microbleeds (CMBs) are small, rounded, dark-signal lesions on brain MRI that represent cerebral hemosiderin deposits resulting from prior microhemorrhages and are neuroimaging biomarkers of cerebral amyloid angiopathy (CAA). Here, we report a case of innumerable CMBs in a patient with hepatic encephalopathy underlying decompensated liver cirrhosis. Case presentation An 83-year-old woman diagnosed with hepatitis B virus-related liver cirrhosis 40 years before was referred to our neurology clinic for progressive disorientation of time and place, personality changes, and confusion with somnolence over 2 weeks. Based on the laboratory, neuroimaging, and electrophysiological findings, we diagnosed the patient with hepatic encephalopathy, and her symptoms recovered within 12 h after proper medical management. Brain MRI showed innumerable CMBs in the bilateral frontal, parietal, temporal, and occipital lobes. Since the distribution of CMBs in the patient was mainly corticosubcortical and predominantly in the posterior cortical regions, and the apolipoprotein E genotype was ε4/ε4, we speculated that CAA and hepatic encephalopathy coexisted in this patient. Conclusions We suggest that severe liver dysfunction associated with long-term decompensated liver cirrhosis may be related to an increased number of CMBs in the brain. Our findings indicate that decompensated liver cirrhosis may be a risk factor for the development of CMBs and corroborate a link between the liver and the brain.

scholarly journals Pure Motor Stroke Secondary to Cerebral Infarction of Recurrent Artery of Heubner after Mild Head Trauma: A Case Report

2016 ◽  
Vol 4 (1) ◽  
pp. 139-141
Author(s):  
Ali Yilmaz ◽  
Zahir Kizilay ◽  
Ayca Ozkul ◽  
Bayram Çirak
Keyword(s):  
Ischemic Stroke ◽  
Head Trauma ◽  
Distal Part ◽  
Brain Mri ◽  
Artery Occlusion ◽  
Acute Ischemia ◽  
Post Traumatic ◽  
The Brain ◽  
Perforating Arteries ◽  
Pure Motor

BACKGROUND: The recurrent Heubner's artery is the distal part of the medial striate artery. Occlusion of the recurrent artery of Heubner, classically contralateral hemiparesis with fasciobrachiocrural predominance, is attributed to the occlusion of the recurrent artery of Heubner and is widely known as a stroke syndrome in adults. However, isolated occlusion of the deep perforating arteries following mild head trauma also occurs extremely rarely in childhood.CASE REPORT: Here we report the case of an 11-year-old boy with pure motor stroke. The brain MRI showed an acute ischemia in the recurrent artery of Heubner supply area following mild head trauma. His fasciobrachial hemiparesis and dysarthria were thought to be secondary to the stretching of deep perforating arteries leading to occlusion of the recurrent artery of Heubner.CONCLUSION: Post-traumatic pure motor ischemic stroke can be secondary to stretching of the deep perforating arteries especially in childhood.

The Clinical Value of Periventricular White Matter Hyperintensity on MRI in Sudden Sensorineural Hearing Loss

2021 ◽  
pp. 000348942110189
Author(s):  
Jung Woo Lee ◽  
Deoksu Kim ◽  
Seokhwan Lee ◽  
Sung-Won Choi ◽  
Soo-Keun Kong ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Multivariate Analysis ◽  
White Matter ◽  
Brain Mri ◽  
Sudden Sensorineural Hearing Loss ◽  
White Matter Hyperintensity ◽  
Control Group ◽  
Periventricular White Matter ◽  
Clinical Value ◽  
Hearing Gain

Objectives: To assess the clinical value of periventricular white matter hyperintensity (PWMH) found on brain magnetic resonance imaging (MRI) in patients with sudden sensorineural hearing loss (SSNHL). Methods: In this prospective study, 115 patients who were diagnosed with SSNHL aged between 55 and 75 years were analyzed. All subjects underwent brain MRI and were divided into a PWMH and control groups, depending on the presence of PWMH on MRI. PWMH was subdivided into 3 groups according to severity. Pure-tone average results and hearing gain were compared between the 2 groups before treatment and 2 months after treatment. Hearing improvement was assessed using Sigel’s criteria. Results: A total of 106 patients (43 in the PWMH group and 63 in the control group) finally completed the 2-month follow-up. Average hearing gain in the PWMH group was significantly higher than in the control group (34.8 ± 20.3 and 25.9 ± 20.3, respectively, P = .029). PWMH score 1 showed significantly better hearing levels and hearing gain compared to PWMH score 3 and the control group. Multivariate analysis revealed that younger age, better initial hearing level, and the presence of PVWM score 1 were associated with good recovery. Conclusions: The presence of PWMH score 1 on brain MRI in patients with SSNHL was associated with better treatment response and was a good prognostic factor in a multivariate analysis while the hearing recovery in more severe PWMH (scores 2, 3) was not different from the control group.

scholarly journals Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India

2021 ◽  
Vol 12 (01) ◽  
pp. 133-136
Author(s):  
Vykuntaraju K. Gowda ◽  
Preeti Kulhalli ◽  
Dhananjaya K. Vamyanmane
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Developmental Delay ◽  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Cerebral Atrophy ◽  
Southern India ◽  
Care Hospital ◽  
Neurological Manifestations ◽  
Congenital Cmv

Abstract Background Cytomegalovirus (CMV) is a ubiquitous herpes virus. It is the most common congenital viral infection. Data on congenital CMV in India are lacking and hence the present study was undertaken. Objectives The aim of the study is to evaluate the clinical and radiological profile of neurological manifestations of congenital CMV infections in tertiary care hospital. Methods This is a retrospective chart review of the clinical and laboratory profile of congenital CMV infections presenting from January 2018 to February 2020 to a tertiary care hospital in Southern India. Details of clinical profile, serological and neuroimaging data were obtained and analyzed. Results A total of 42 cases with female preponderance (57%) were reported during the study period. The mean age of presentation was 2.9 years. Clinical features were developmental delay (81%), microcephaly (93%), seizures (33%), intrauterine growth restriction (19%), neonatal encephalopathy (10%), anemia (9%), jaundice (10%), hepato-splenomegaly (7%), and eye abnormalities (14%). Antenatal maternal fever was reported by 12%. Sensorineural hearing loss was present in 57%. Neuroimaging showed periventricular calcification (79%), cerebral atrophy (69%), ventricular dilatation (55%), malformations (26%), dysmyelination (12%), and temporal lobe cysts (5%). CMV-immunoglobulin-M positivity was seen in 14 cases (33%), urinary polymerase chain reaction for CMV was positive in 21 cases (50%), and clinical diagnosis was done in seven cases (16%). Conclusion Common findings in congenital CMV are microcephaly, developmental delay, seizures, anemia, and sensorineural hearing loss. Common neuroimaging findings are periventricular calcification, cerebral atrophy, malformation, white matter signal changes, and cysts. CMV can mimic like cerebral palsy, malformations of the brain, demyelinating disorders, and calcified leukoencephalopathies like Aicardi-Goutières syndrome.

The effect of hypophysectomy on physiological color change in Fundulus heteroclitus

1971 ◽  
Vol 49 (1) ◽  
pp. 129-131 ◽  
Author(s):  
F. S. Abbott ◽  
M. B. Favreau
Keyword(s):  
Histological Examination ◽  
Fundulus Heteroclitus ◽  
Color Change ◽  
The Third ◽  
The Brain

Thirty-eight Fundulus heteroclitus were tested for ability to adapt to white and black backgrounds. They were then hypophysectomized and distributed individually to white and black containers. Their ability to adapt to background was determined for periods up to 2 weeks. Sixteen operated fish retained their preoperative ability to adapt; 8 became dark temporarily; 14 became persistently dark. Histological examination confirmed the result of the operation. In the third group of fish the persistent darkness was not associated with damage to specific areas of the brain although damage was more widespread in this group. It is concluded that hypophysectomy does not interfere with physiological color change in F. heteroclitus. The location of the central relays in the melanophore system could not be determined.

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