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1.
Indian J Med Microbiol ; 45: 100395, 2023.
Article in English | MEDLINE | ID: mdl-37573041

ABSTRACT

AIMS: • To study the incidence of Streptococcus anginosus group (SAG) in pyogenic or community acquired intra cerebral abscess. • To understand the risk factors for the same. • To analyze the specific radiological features and clinical outcome after surgery and antibiotic therapy. METHODS: This is a retrospective observational study of case series over a period of one year. Patients diagnosed with intracerebral abscess were included in the study. Pus collected from were received in the laboratory and processed according to the standard protocols. Data regarding the clinical findings and demographics were collected from medical records. FINDINGS: A total of 202 samples were studied. 103 were found to be pyogenic. SAG were isolated from 21 samples (20.38%) and all the isolates were sensitive to Penicillin. Age of the patients ranged from 18months to 68years. Male preponderance was noted with male to female ratio of 4:1. Otogenic infections were the most common predisposing factors and focus of infection could not be ascertained in 5 patients. All patients were treated with surgical intervention and antibiotics (Vancomycin, Amikacin and Metronidazole) for 6 weeks and recovery was remarkable. One patient succumbed to the illness. CONCLUSION: SAG can be an aggressive pathogen with propensity for abscess formation. Chronic Suppurative Otitis Media (CSOM) is still a major cause of intracerebral abscess in developing country like India which is a benign and curable disease and should not be neglected. Injudicious use of antibiotics and negligence regarding the dose and duration of therapy from both patients and health care providers is the major cause for common infections to become more difficult to treat and succumbing to complications.


Subject(s)
Abscess , Otitis Media, Suppurative , Humans , Male , Female , Adolescent , Streptococcus anginosus , Otitis Media, Suppurative/complications , Retrospective Studies , Anti-Bacterial Agents/therapeutic use , Drug Resistance, Microbial
2.
Brain Circ ; 7(2): 104-110, 2021.
Article in English | MEDLINE | ID: mdl-34189353

ABSTRACT

BACKGROUND: Cerebral vasospasm can complicate aneurysmal subarachnoid hemorrhage (aSAH), contributing to cerebral ischemia. We explored the role of remote ischemic preconditioning (RIPC) in reducing cerebral vasospasm and ischemia and improving outcomes after aSAH. MATERIALS AND METHODS: Patients with ruptured cerebral aneurysm undergoing surgical clipping and meeting the trial criteria were randomized to true RIPC (n = 13) (inflating upper extremity blood pressure cuff thrice to 30 mmHg above systolic pressure for 5 min) or sham RIPC (n = 12) (inflating blood pressure cuff thrice to 30 mmHg for 5 min) after ethical approval. A blinded observer assessed outcome measures-cerebral vasospasm and biomarkers of cerebral ischemia. We also evaluated the feasibility and safety of RIPC in aSAH and Glasgow Outcome Scale-Extended (GOSE). RESULTS: Angiographic vasospasm was seen in 9/13 (69%) patients; 1/4 patients (25%) in true RIPC group, and 8/9 patients (89%) in sham RIPC group (P = 0.05). Vasospasm on transcranial Doppler study was diagnosed in 5/25 (20%) patients and 1/13 patients (7.7%) in true RIPC and 4/12 patients (33.3%) in sham RIPC group, (P = 0.16). There was no difference in S100B and neuron-specific enolase (NSE) levels over various time-points within groups (P = 0.32 and 0.49 for S100B, P = 0.66 and 0.17 for NSE in true and sham groups, respectively) and between groups (P = 0.56 for S100B and P = 0.31 for NSE). Higher GOSE scores were observed with true RIPC (P = 0.009) unlike sham RIPC (P = 0.847) over 6-month follow-up with significant between group difference (P = 0.003). No side effects were seen with RIPC. CONCLUSIONS: RIPC is feasible and safe in patients with aSAH and results in a lower incidence of vasospasm and better functional outcome.

3.
Clin Neurol Neurosurg ; 200: 106400, 2021 01.
Article in English | MEDLINE | ID: mdl-33341089

ABSTRACT

PURPOSE: Transcranial surgery(TCS) for pituitary adenoma(PA) is mostly reserved for lesions with widespread extensions. We sought to analyse the intraoperative challenges, morbidity and the factors associated with morbidity of transcranial approaches, in a large series from a tertiary neurosurgical institute. METHODS: We retrospectively evaluated 137 patients who underwent TCS for PA in our institute. The details of their clinical features, imaging, operative and peri-operative events and complications were collected and analysed. The factors associated with morbidity were evaluated. RESULTS: The mean age of the cohort was 40.86 ± 13.35 years. 21 (15.3%) patients developed significant post-operative hematoma, out of which 7 patients (5.1%) required re-exploration. Post-operative diabetes insipidus was noted in 45 patients (32.84%), while SIADH was noted in 10 patients (7.35%). Other complications were cranial nerve palsy in 14 patients (10.2%), visual deterioration in 7 patients (5.1%). Neither tumour characteristics nor the choice of approach was associated with occurrence of post op hematoma. SIADH was significantly associated with patients with tumours involving cavernous sinus (p = 0.019) and subfrontal extension (p = 0.031). Patients with post-operative hematoma had significantly higher incidence of post-op DI (57.1% vs 28.7%; p = 0.021), while similar correlation was not noticed with SIADH (4.7 vs 7.8%). CONCLUSION: TCS plays a distinct, albeit a small role in surgical management of pituitary adenoma. Tumour related or approach related factors are not significantly associated with the incidence of hematoma. Post-operative hematoma significantly influences the incidence of DI. A proper and judicious selection of approach and meticulous surgical technique should result in a reduction in associated morbidity and mortality.


Subject(s)
Adenoma/diagnostic imaging , Adenoma/surgery , Craniotomy/methods , Perioperative Care/methods , Pituitary Neoplasms/diagnostic imaging , Pituitary Neoplasms/surgery , Adenoma/epidemiology , Adolescent , Adult , Aged , Craniotomy/adverse effects , Craniotomy/trends , Female , Humans , Male , Middle Aged , Morbidity , Perioperative Care/trends , Pituitary Neoplasms/epidemiology , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Postoperative Complications/prevention & control , Retrospective Studies , Time Factors , Young Adult
4.
IEEE J Transl Eng Health Med ; 9: 2100107, 2021.
Article in English | MEDLINE | ID: mdl-33224639

ABSTRACT

The problem of immobility of legs leading to a potentially life threatening condition including deep venous thrombosis (DVT) is well known. The reduced mobility of leg affects a large number of patients in a wide range of clinical scenarios spanning from swelling of the legs to pulmonary embolism. In normal human beings, an elegant system of venous return, both active and passive is responsible for prevention of deep venous thrombosis. The paper proposes a prophylaxis and exercise device that mimics the natural principles of venous return to promote the blood flow. The device is based on electromechanical actuation, and simultaneous alternating compression mechanism, that is compact and, suitably form fitted in design and additionally requires no specialised training for the usage. The device was tested on a healthy volunteer on two different days and findings support the efficacy of the prophylaxis and exercise device in significantly improving the blood flow rate in the lower limb. The prototype device is considered as a major step towards designing a clinically validated lower limb device.


Subject(s)
Pulmonary Embolism , Venous Thrombosis , Exercise , Humans , Leg , Lower Extremity , Pulmonary Embolism/prevention & control , Venous Thrombosis/prevention & control
5.
Pediatr Neurosurg ; 54(5): 329-340, 2019.
Article in English | MEDLINE | ID: mdl-31480064

ABSTRACT

OBJECTIVE: Medulloblastoma (MB) is a heterogenous tumor, and the prognosis is influenced by various clinical, histological, and molecular factors. The aim of the study is to determine the clinical profile and radiologic characteristics among the histo-molecular subgroups, the predictors of surgical outcome, and the pattern of relapse in pediatric and adult MB. METHOD: An analysis of 118 patients of MB who underwent surgical treatment at National Institute of Mental Health and Neurosciences, India, over a 7-year period (2005-2011) is presented. The clinical profile, radiologic characteristics, surgical nuances, and survival patterns are discussed. The relevant statistical analysis was done using SPSS software, version 22.0. RESULTS: The mean age of the cohort was 12 years (12.3 ± 8.7). The primary manifestation was raised intracranial tension headache in 53 patients (44.9%), which was the predominant symptom in large cell/anaplastic (LCA)- and WNT-activated subgroups. The median preoperative Karnofsky performance score was 60 (60.6 ± 12.9). Vermian and hemispheric location of tumor was most commonly observed in non-WNT/non-SHH (groups 3 and 4; 91.7%) and SHH-activated (42.9%) subgroups, respectively. Ninety-two patients (78%) underwent preoperative ventriculoperitoneal shunts (VPS) for obstructive hydrocephalus (HCP) and 14 patients (11.8%) underwent VPS in the postoperative period. The median overall survival (OS) for the whole group was 82.1 ± 5.7 months and the median recurrence-free survival was 51.0 ± 4.8 months. While radiotherapy had a significant influence on OS, progression-free survival was influenced by radiotherapy as well as chemotherapy in both pediatric and adult cohort. Desmoplastic/nodular subtype and WNT-activated subgroup had the best prognosis; LCA and non-WNT/non-SHH had the worst prognosis. CONCLUSIONS: Majority of the patients were pediatric in the study. Age, hemispheric location of tumor, extent of resection, and adjuvant treatment status were the important clinical prognostic factors for survival. Surgery for MB is formidable, and VPS can be considered in persistent symptomatic and progressive HCP. Our study on pediatric and adult MB validates the prognostic significance of various clinical, radiologic, and histo-molecular parameters of MB.


Subject(s)
Cerebellar Neoplasms/diagnostic imaging , Cerebellar Neoplasms/surgery , Medulloblastoma/diagnostic imaging , Medulloblastoma/surgery , Adolescent , Adult , Cerebellar Neoplasms/mortality , Child , Child, Preschool , Cohort Studies , Female , Humans , India/epidemiology , Magnetic Resonance Imaging/mortality , Magnetic Resonance Imaging/trends , Male , Medulloblastoma/mortality , Retrospective Studies , Survival Rate/trends , Treatment Outcome , Young Adult
6.
Interv Neuroradiol ; 25(5): 570-578, 2019 Oct.
Article in English | MEDLINE | ID: mdl-31060417

ABSTRACT

OBJECTIVE: The aim of this study is to share our experience in per-operative embolization of aggressive vertebral haemangioma and to compare the surgical outcome with existing modalities of management. BACKGROUND: Vertebral haemangioma accounts for 12% of benign lesions of the vertebral column detected incidentally. Rarely they may enlarge, cause pain and neurological deficit because of spinal cord compression, vertebral body or arch expansion, or pathological fracture. Treatment options for symptomatic vertebral haemangioma include pre-operative transarterial embolization, surgical excision, radiotherapy, and percutaneous injection of alcohol or methyl methacrylate. We present our experience of per-operative glue embolization for aggressive (Enneking stage 3) vertebral haemangiomas. MATERIALS AND METHODS: We describe five patients with symptomatic vertebral haemangioma at the dorsal level who underwent per-operative glue embolization. After initial laminectomy, a tumorogram was obtained under fluoroscopic guidance through direct contrast injection via spinal needle inserted through the pedicles of vertebra at the involved level. Varied concentration of glue was injected via the same spinal needle. All patients underwent surgical decompression of the intraspinal epidural component in the same sitting along with posterior spinal stabilization of the adjacent levels in two patients. RESULTS: In all five patients, complete embolization of the tumour was possible per-operatively through the transpedicular approach along with adjunctive surgical decompression, and the blood loss was significantly less. Clinical follow-up of these patients at 12-48 months showed reduction in size of the epidural component, relief of cord compression, and significant improvement in their neurological deficits with no recurrence. CONCLUSION: We conclude that per-operative embolization is a safe and efficacious adjunctive procedure with surgical decompression with or without spinal stabilization for the treatment of symptomatic vertebral haemangiomas.


Subject(s)
Adhesives , Decompression, Surgical/methods , Embolization, Therapeutic/methods , Hemangioma/surgery , Spinal Neoplasms/surgery , Adolescent , Adult , Combined Modality Therapy , Epidural Space/surgery , Female , Fluoroscopy , Hemangioma/diagnostic imaging , Humans , Male , Middle Aged , Nervous System Diseases/etiology , Nervous System Diseases/therapy , Spinal Neoplasms/diagnostic imaging , Surgery, Computer-Assisted , Tomography, X-Ray Computed , Treatment Outcome
7.
Brain Circ ; 5(1): 12-18, 2019.
Article in English | MEDLINE | ID: mdl-31001595

ABSTRACT

INTRODUCTION: Cerebral vasospasm is a dreaded complication of aneurysmal subarachnoid hemorrhage (aSAH) predisposing to delayed cerebral ischemia. We intend to study the cerebroprotective effects of remote ischemic preconditioning (RIPC) in patients with aSAH. MATERIALS AND METHODS: This is a single-center, prospective, parallel group, randomized, pilot trial, approved by the Institutional Ethics Committee. Patients with aSAH admitted to our hospital for surgical clipping; fulfilling the trial inclusion criteria will be randomized to true RIPC (n = 12) (inflating upper extremity blood pressure cuff thrice for 5 min to 30 mmHg above systolic blood pressure) or sham RIPC (n = 12) (inflating blood pressure cuff thrice for 5 min to 30 mmHg) in 1:1 allocation ratio using a computerized random allocation sequence and block randomization. RESULTS: Our primary outcome measure is vasospasm on cerebral angiography and transcranial Doppler study, and concentration of serum S100B and neuron-specific enolase at 24 h after RIPC and on day 7 of ictus. Our secondary outcomes are safety of RIPC, cerebral oxygen saturation, and Glasgow coma score, and extended Glasgow outcome scale scores at discharge and at 1, 3, and 6 months following discharge. Outcome measures will be assessed by an observer blinded to the study intervention. CONCLUSION: If our preliminary results demonstrate a beneficial effect of RIPC, this would serve as a clinically applicable and safe preemptive method of protection against cerebral ischemia.

8.
Arch Womens Ment Health ; 21(4): 465-469, 2018 08.
Article in English | MEDLINE | ID: mdl-29417305

ABSTRACT

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is increasingly being recognised to be associated with protean neuropsychiatric manifestations. Anti-NMDAR encephalitis is considered to be the most common amongst the autoimmune-mediated encephalitic disorders. It is caused by the autoantibodies against GluN1 subunits of N-methyl-D-aspartate (NMDA) receptor and manifests with prominent psychiatric symptoms, especially during the initial phase of illness. Literature anti-NMDAR encephalitis presenting with postpartum psychosis is scant. In this report, we present a 28-year-old lady with postpartum psychosis as presenting manifestation of anti-NMDAR encephalitis and discuss the neuropsychiatric manifestations of this emerging entity.


Subject(s)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis/diagnosis , Brain/diagnostic imaging , Catatonia/etiology , Postpartum Period , Psychotic Disorders/etiology , Seizures/etiology , Adult , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/cerebrospinal fluid , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/drug therapy , Autoantibodies/immunology , Diagnosis, Differential , Female , Humans , Magnetic Resonance Imaging , Pregnancy , Psychotic Disorders/diagnosis , Receptors, N-Methyl-D-Aspartate/immunology , Steroids/therapeutic use
9.
Neurol India ; 65(3): 546-550, 2017.
Article in English | MEDLINE | ID: mdl-28488618

ABSTRACT

BACKGROUND: Pediatric thoracolumbar (TL) spinal injuries are uncommon entities with an incidence of 5-34% of all pediatric spinal injuries. There is a scarcity of studies done on the pediatric population in the developing countries like India. This study aims to review our experience with TL spine injuries in children over a 12-year period. MATERIALS AND METHODS: We retrospectively reviewed the epidemiology, risk factors, mechanisms, patterns of injury and management of pediatric TL injuries in our population. RESULTS: There were 90 children with TL spine injuries comprising 2% of all the spine injuries treated in our institute. The mean age was 15.9 ± 3.2 years (range: 2-18 years) with a male predominance (3:1). The most common mode of injury was fall from height. 64/90 (71.1%) children sustained injury due to fall from height, 18/90 (20%) children sustained injury following motor vehicle accident and rest of the children sustained injury due to the fall of a heavy object over the neck. Most of the patients (27.8%) sustained Grade A injury. Lumbar spine was the most common spinal level injured (53.3%), and fractures were the most common type of injury (93.3%). Surgical fixation was performed in 18/90 (20%) children. Follow-up was available for 21 children of which 13 (62%) were ambulant at follow-up. CONCLUSION: TL injuries are rare and are most common in children older than 10 years and mainly involve the lumbar region. When indicated, surgical fusion of the involved vertebrae is safe and effective.


Subject(s)
Lumbar Vertebrae/injuries , Neurosurgical Procedures/methods , Pediatrics , Spinal Injuries/etiology , Thoracic Vertebrae/injuries , Adolescent , Child , Child, Preschool , Female , Humans , Lumbar Vertebrae/diagnostic imaging , Lumbar Vertebrae/surgery , Male , Retrospective Studies , Spinal Injuries/diagnostic imaging , Spinal Injuries/epidemiology , Spinal Injuries/therapy , Thoracic Vertebrae/diagnostic imaging , Thoracic Vertebrae/surgery , Tomography Scanners, X-Ray Computed , Treatment Outcome
11.
Clin Neurol Neurosurg ; 148: 17-21, 2016 Sep.
Article in English | MEDLINE | ID: mdl-27359089

ABSTRACT

OBJECTIVES: Reports of audiological manifestations in specific subgroups of mitochondrial disorders are limited. This study aims to describe the audiological findings in patients with MELAS syndrome and m.3243A>G mutation. PATIENTS & METHODS: Audiological evaluation was carried out in eight patients with confirmed MELAS syndrome and m.3243A>G mutation. The evaluation included a complete neurological evaluation, pure tone audiometry (n=8), otoacoustic emissions (n=8) and brainstem evoked response audiometry (n=6), magnetic resonance imaging (n=8) and muscle biospy (n=6). RESULTS: Eight patients (Age range: 5-45 years; M:F-1:3) including six children and two adults underwent formal audiological evaluation. Five patients had hearing loss; of these two had "subclinical hearing loss", one had moderate and two had severe hearing loss. The abnormalities included abnormal audiometry (n=5), otoacoustic emission testing (n=7) and absent brainstem auditory evoked responses (n=1). The findings were suggestive of cochlear involvement in four and retrocochlear in one. CONCLUSIONS: This study shows that hearing loss of both cochlear and retrocochlear origin occurs in patients with MELAS and may be subclinical. Early referrals for audiological evaluation is warranted to recognize the subclinical hearing loss in these patients. The therapeutic implications include early interventions in the form of hearing aids, cochlear implants and cautioning the physicians for avoidance of aminoglycosides.


Subject(s)
Hearing Loss/etiology , MELAS Syndrome/complications , Adolescent , Adult , Child , Child, Preschool , Female , Hearing Loss/diagnosis , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/etiology , Humans , Male , Middle Aged
12.
Childs Nerv Syst ; 31(9): 1607-11, 2015 Sep.
Article in English | MEDLINE | ID: mdl-25939718

ABSTRACT

Systemic complications following liquid glue embolisation of intracranial pial arteriovenous fistulae (AVF) are uncommonly reported. We report a patient who had a pulmonary embolism of a liquid glue during endovascular treatment of a pial AVF. The patient had haemodynamic instability, pulmonary hypertension, increased alveolar dead space and increased brain natriuretic peptide levels. In addition to other supportive measures, her pulmonary hypertension was controlled with sildenafil. Ten months after the event, the patient had a considerable improvement of the clinical and laboratory variables and a significant radiographic resolution of the glue from the pulmonary circulation.


Subject(s)
Endovascular Procedures/adverse effects , Postoperative Complications/physiopathology , Pulmonary Embolism/etiology , Angiography, Digital Subtraction , Blood Gas Analysis , Blood Pressure , Child , Female , Humans , Tomography, X-Ray
14.
J Neurosci Rural Pract ; 5(1): 32-9, 2014 Jan.
Article in English | MEDLINE | ID: mdl-24741247

ABSTRACT

BACKGROUND: Stereotactic biopsy of brainstem lesions have been performed with varying indications, with most of the literature reporting on children. MATERIALS AND METHODS: The present study retrospectively analyzed all cases that underwent stereotactic biopsy for brainstem lesion in both adult and pediatric population between 1994 and 2009 in a single tertiary neurosurgical center. The clinical and radiological features, technique of the procedure, morbidity, diagnostic accuracy, spectrum of diagnosis, and variations in adult and pediatric population were analyzed. RESULTS: Eighty-two patients were included in the study. Computed tomography (CT) was used as guidance in 73 (38 children and 35 adults) patients and magnetic resonance imaging (MRI) in 9 (3 children and 6 adults). The biopsy was performed in a procedure room under local anesthesia in most adults, while children required sedation. Glioblastoma comprised 29.3% of all pathologies in children, compared with only 4.9% of the pathologies in adult population (P = 0.007). Tuberculosis was the next major diagnosis (9.8%). In 12 patients, initial biopsy was inconclusive. Following a repeat biopsy in 5 of these patients, a diagnosis was possible for 75/82 (91.5%) patients by STB. The location of the target, the choice of entry, the radiological characteristic of the lesion, enhancement pattern, and age group did not significantly correlate with the occurrence of inconclusive biopsy. Permanent complications occurred in two patients (2.4%). There was no mortality in this series. CONCLUSION: Stereotactic biopsy has an important role in brainstem lesions, more significantly in adults, due to wider pathological spectrum. It can be performed safely under local anesthesia through a twist drill craniostomy in most of the adults.

15.
Neurol India ; 62(1): 19-25, 2014.
Article in English | MEDLINE | ID: mdl-24608449

ABSTRACT

BACKGROUND: Epidemiology of primary central nervous system lymphoma (PCNSL) world-wide shows an increase in incidence linked to human immunodeficiency virus (HIV) pandemic. MATERIALS AND METHODS: This retrospective review of case records analyzed the trends of hospital-based incidence of PCNSL over two decades (1991-2010), relation to immune status and effect of steroids on yield of stereotactic biopsy (STB). RESULTS: A total of 76 cases of PCNSL were diagnosed over a period of two decades. Incidence of lymphomas amongst all biopsied lesions showed a gradual increase from 0.18% at the beginning of study period to 0.41% at the end of study period. Only 8.6% (3 of 35 tested) of the PCNSL patients were positive for HIV. The mean age of patients with HIV infection (31.3 ± 3.5 years) was significantly lower compared with those without HIV infection (44.7 ± 10.9 years) (P = 0.033). Diagnosis was obtained by open biopsy in 32 patients (42.1%) and STB in 44 patients (57.9%). Open biopsy yielded a histological confirmation of PCNSL in all cases. Among those who underwent STB, the incidence of negative biopsy with short duration of steroids (≤ 1 week) was 33.3% and increased to 57.1% with increasing duration of steroid treatment (>1 week). CONCLUSIONS: This study documented an increase in hospital based incidence of PCNSL in our institute, independent of HIV association. Steroid intake administration for more than a week prior to biopsy adversely affected the yield of STB in PCNSL.


Subject(s)
Central Nervous System Neoplasms/epidemiology , Lymphoma/epidemiology , Steroids/therapeutic use , Adolescent , Adult , Aged , Central Nervous System Neoplasms/drug therapy , Central Nervous System Neoplasms/pathology , Comorbidity , Female , HIV Infections/epidemiology , Humans , Incidence , India/epidemiology , Lymphoma/drug therapy , Lymphoma/pathology , Male , Middle Aged , Retrospective Studies , Stereotaxic Techniques , Time Factors , Young Adult
16.
Br J Radiol ; 87(1034): 20130478, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24470583

ABSTRACT

OBJECTIVE: Bilateral hypertrophic olivary degeneration on brain MRI has been reported in a few metabolic, genetic and neurodegenerative disorders, including mitochondrial disorders. In this report, we sought to analyse whether bilateral symmetrical inferior olivary nucleus hypertrophy is specifically associated with mitochondrial disorders in children. METHODS: This retrospective study included 125 children (mean age, 7.6 ± 5 years; male:female, 2.6:1) diagnosed with various metabolic and genetic disorders during 2005-2012. The routine MRI sequences (T1 weighted, T2 weighted and fluid-attenuated inversion-recovery sequences) were analysed for the presence of bilateral symmetrical olivary hypertrophy and central tegmental tract or dentate nuclei signal changes. The other imaging findings and the final diagnoses were noted. RESULTS: The cohort included patients with Leigh and Leigh-like syndrome (n = 25), other mitochondrial diseases (n = 25), Wilson disease (n = 40), Type 1 glutaric aciduria (n = 14), maple syrup urine disease (n = 13), giant axonal neuropathy (n = 5) and L-2 hydroxy glutaric aciduria (n = 3). Bilateral inferior olivary nucleus hypertrophy was noted in 10 patients, all of whom belonged to the Leigh and Leigh-like syndrome group. CONCLUSION: Bilateral hypertrophic olivary degeneration on MRI is relatively often, but not routinely, seen in children with Leigh and Leigh-like syndrome. Early detection of this finding by radiologists and physicians may facilitate targeted metabolic testing in these children. ADVANCES IN KNOWLEDGE: This article highlights the occurrence of bilateral hypertrophic olivary nucleus degeneration on MRI in children with Leigh and Leigh-like syndrome, compared with other metabolic disorders.


Subject(s)
Leigh Disease/pathology , Olivary Nucleus/pathology , Child , Cohort Studies , Diagnosis, Differential , Early Diagnosis , Female , Giant Axonal Neuropathy/pathology , Glutarates/urine , Hepatolenticular Degeneration/pathology , Humans , Hypertrophy/pathology , Magnetic Resonance Imaging , Male , Maple Syrup Urine Disease/pathology , Mitochondrial Diseases/pathology , Retrospective Studies , Syndrome
17.
Brain Dev ; 36(9): 807-12, 2014 Oct.
Article in English | MEDLINE | ID: mdl-24262866

ABSTRACT

BACKGROUND: Mutation in the SURF1 is one of the most common nuclear mutations associated with Leigh syndrome and cytochrome c oxidase deficiency. This study aims to describe the phenotypic and imaging features in four patients with Leigh syndrome and novel SURF1 mutation. METHODS: The study included four patients with Leigh syndrome and SURF1 mutations identified from a cohort of 25 children with Leigh syndrome seen over a period of six years (2006-2012). All the patients underwent a detailed neurological assessment, muscle biopsy, and sequencing of the complete mitochondrial genome and SURF1. RESULTS: Three patients had classical presentation of Leigh syndrome. The fourth patient had a later age of onset with ataxia as the presenting manifestation and a stable course. Hypertrichosis, facial dysmorphism and hypopigmentation were the additional phenotypic features noted. On magnetic resonance imaging all patients had brainstem and cerebellar involvement and two had basal ganglia involvement in addition. The bilateral symmetrical hypertrophic olivary degeneration in these patients was striking. The SURF1 analysis identified previously unreported mutations in all the patients. On follow-up three patients expired and one had a stable course. CONCLUSIONS: Patients with Leigh syndrome and SURF1 mutation often have skin and hair abnormalities. Bilateral symmetrical hypertrophic olivary degeneration was a consistent finding on magnetic resonance imaging in these patients.


Subject(s)
Brain/pathology , Leigh Disease/epidemiology , Leigh Disease/pathology , Membrane Proteins/genetics , Mitochondrial Proteins/genetics , Age of Onset , Child , Child, Preschool , Cohort Studies , Fatal Outcome , Follow-Up Studies , Hair/abnormalities , Humans , Infant , Leigh Disease/diagnosis , Leigh Disease/genetics , Magnetic Resonance Imaging , Muscle, Skeletal/pathology , Mutation , Phenotype , Skin Abnormalities/diagnosis , Skin Abnormalities/epidemiology , Skin Abnormalities/genetics , Skin Abnormalities/pathology
18.
J Neurol Surg A Cent Eur Neurosurg ; 74 Suppl 1: e261-5, 2013 Dec.
Article in English | MEDLINE | ID: mdl-23907856

ABSTRACT

BACKGROUND: Complications after gamma knife radiosurgery (GKRS) have been attributed most commonly to radiation-induced damage to the brain. Early occlusion of the draining veins has been postulated as one of the rare causes of complications after GKRS, which often occurs at or beyond 6 months after GKRS. CLINICAL PRESENTATION: We present a very rare incidence of acute onset of hemiparesis caused by a draining vein occlusion within 24 hours after GKRS for arteriovenous malformation. The patient developed hemiparesis within one day after GKRS, which partially improved with steroids. Radiologic investigations revealed an early occlusion of a draining vein, resulting in occlusive hyperemia and neurologic deficit. CONCLUSION: Early draining vein occlusion is an important cause of postradiosurgery complications, and it can rarely occur within days.


Subject(s)
Intracranial Arteriovenous Malformations/surgery , Intracranial Thrombosis/etiology , Intracranial Thrombosis/therapy , Paresis/etiology , Postoperative Complications/therapy , Radiosurgery/adverse effects , Adult , Angiography, Digital Subtraction , Drainage , Female , Humans , Intracranial Arteriovenous Malformations/complications , Intracranial Hemorrhages/etiology , Magnetic Resonance Imaging , Tomography, X-Ray Computed
20.
Clin Genet ; 80(6): 532-40, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21496009

ABSTRACT

Primary microcephaly is an autosomal recessive disorder characterized by smaller than normal brain size and mental retardation. It is genetically heterogeneous with seven loci: MCPH1-MCPH7. We have previously reported genetic analysis of 35 families, including the identification of the MCPH7 gene STIL. Of the 35 families, three families showed linkage to the MCPH2 locus. Recent whole-exome sequencing studies have shown that the WDR62 gene, located in the MCPH2 candidate region, is mutated in patients with severe brain malformations. We therefore sequenced the WDR62 gene in our MCPH2 families and identified two novel homozygous protein truncating mutations in two families. Affected individuals in the two families had pachygyria, microlissencephaly, band heterotopias, gyral thickening, and dysplastic cortex. Using immunofluorescence study, we showed that, as with other MCPH proteins, WDR62 localizes to centrosomes in A549, HepG2, and HaCaT cells. In addition, WDR62 was also localized to nucleoli. Bioinformatics analysis predicted two overlapping nuclear localization signals and multiple WD-40 repeats in WDR62. Two other groups have also recently identified WDR62 mutations in MCPH2 families. Our results therefore add further evidence that WDR62 is the MCPH2 gene. The present findings will be helpful in genetic diagnosis of patients linked to the MCPH2 locus.


Subject(s)
Centrosome/metabolism , Microcephaly/pathology , Nerve Tissue Proteins/genetics , Biomarkers , Brain/metabolism , Brain/pathology , Cell Cycle Proteins , Cell Line, Tumor , Cell Nucleus/genetics , Cell Nucleus/metabolism , Child , Child, Preschool , Computational Biology , DNA Mutational Analysis , Exome , Female , Fluorescent Antibody Technique , Genetic Linkage , Genotype , Hep G2 Cells , Humans , India/epidemiology , Lissencephaly/diagnosis , Lissencephaly/genetics , Lissencephaly/pathology , Magnetic Resonance Imaging , Male , Microcephaly/epidemiology , Microcephaly/genetics , Mutation, Missense , Nerve Tissue Proteins/metabolism , Pedigree
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