scholarly journals Electroencephalogram and clinical manifestations of Rett syndrome in children

2016 ◽  
Vol 43 (4) ◽  
pp. 121
Author(s):  
E S Herini ◽  
I Mangunatmadja ◽  
Purboyo S ◽  
Hardiono D Pusponegoro ◽  
Sunartini Sunartini
Keyword(s):  
Rett Syndrome ◽  
Clinical Stage ◽  
Clinical Manifestations ◽  
Epileptic Seizures ◽  
Spike Discharge ◽  
History Of ◽  
Cortical Involvement ◽  
Almost All ◽  
Electroencephalogram Eeg ◽  
Epileptic Spike

Background Rett Syndrome (RS) is a severe neurodevelopmentaldisorder. Epileptic seizures occur in 80-90%; grandmal, psychomo-tor (complex partial), and focal motor seizures have been reported.The electroencephalogram(EEG) is almost always abnormal.Objective This study aimed to investigate the EEG and clinicalmanifestations of children with RSResults We investigated EEG on 5 patients with RS aged 30–66month. One patient was in clinical stage II and 4 patients in clini-cal stage III. Four patients had history of seizures, however onlytwo patients suffered from epilepsy. The EEG demonstrated slow-ing background activity in occipital region in two patients. In addi-tion, epileptic form activities were observed in 4 of 5 patients.Conclusion We concluded that epileptic spike discharge with orwithout clinical seizures were found in almost all of our RS pa-tients. These paroxysmal discharges suggested the process andthe sequences of cortical involvement. Compelling clinical, neuro-physiological evidences were very important to decide the stageof Rett disorder

scholarly journals Relationships between oral characteristics and eating/swallowing functions in patients with Rett syndrome of various ages

2015 ◽  
Vol 41 (1) ◽  
pp. 16-22
Author(s):  
Kimiko Hobo ◽  
◽  
Fumiyo Tamura ◽  
Keiichiro Sagawa ◽  
Hisaharu Suzuki ◽  
...  
Keyword(s):  
Nutritional Status ◽  
Rett Syndrome ◽  
Epileptic Seizures ◽  
Food Type ◽  
Swallowing Function ◽  
Gross Motor ◽  
Motor Functions ◽  
Respiratory Status ◽  
Swallowing Dysfunction ◽  
History Of

This study was conducted to clarify the actual status of oral symptoms related to the systemic and eating/swallowing functions, and the effect of ageing for those conditions in patients with Rett syndrome. The subjects were 38 females aged from 4 to 63 years diagnosed with Rett syndrome. The examination items were age, nutritional status, gross motor functions, history of epileptic seizures, antiepileptic drugs use, history of pneumonia, respiratory status (apnea, hyperventilation, and aerophagia), ingested food type, eating/swallowing functions, dysphagia symptom, occlusal condition, eating independence level, palate shape, and bruxism. Using Pearson's correlation coefficient, no significant correlation between age and nutritional status was observed (Rohrer index: p=0.12, BMI: p=0.22). When the other inter-item relationships were evaluated by the x square test and Fisher's exact test, a significant correlation was recognized between gross motor functions and oral functions (p < 0.01 ), between gross motor functions and swallowing function (p < 0.05), and between respiratory status and oral functions (p < 0.05). The investigation of the characteristics of patients with Rett syndrome suggested that decreased gross motor functions, such as gait function, and the appearance of respiratory status might herald the development of eating/swallowing dysfunction.

scholarly journals Towards Central Nervous System Involvement in Adults with Hereditary Myopathies

2020 ◽  
Vol 7 (4) ◽  
pp. 367-393
Author(s):  
Jens Reimann ◽  
Cornelia Kornblum
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neuromuscular Disorders ◽  
Clinical Manifestations ◽  
Specific Treatment ◽  
Central Nervous System Involvement ◽  
Epileptic Seizures ◽  
System Involvement ◽  
History Of ◽  
Neuroimaging Techniques

There is increasing evidence of central nervous system involvement in numerous neuromuscular disorders primarily considered diseases of skeletal muscle. Our knowledge on cerebral affection in myopathies is expanding continuously due to a better understanding of the genetic background and underlying pathophysiological mechanisms. Intriguingly, there is a remarkable overlap of brain pathology in muscular diseases with pathomechanisms involved in neurodegenerative or neurodevelopmental disorders. A rapid progress in advanced neuroimaging techniques results in further detailed insight into structural and functional cerebral abnormalities. The spectrum of clinical manifestations is broad and includes movement disorders, neurovascular complications, paroxysmal neurological symptoms like migraine and epileptic seizures, but also behavioural abnormalities and cognitive dysfunction. Cerebral involvement implies a high socio-economic and personal burden in adult patients sometimes exceeding the everyday challenges associated with muscle weakness. It is especially important to clarify the nature and natural history of brain affection against the background of upcoming specific treatment regimen in hereditary myopathies that should address the brain as a secondary target. This review aims to highlight the character and extent of central nervous system involvement in patients with hereditary myopathies manifesting in adulthood, however also includes some childhood-onset diseases with brain abnormalities that transfer into adult neurological care.

scholarly journals Case Report: Primary Pulmonary Angiosarcoma With Brain Metastasis

2022 ◽  
Vol 9 ◽  
Author(s):  
Xiangjun Tang ◽  
Jing Zhu ◽  
Fangcheng Zhu ◽  
Hanjun Tu ◽  
Aiping Deng ◽  
...  
Keyword(s):  
Brain Metastasis ◽  
Brain Edema ◽  
Mediastinal Lymph Node ◽  
Clinical Manifestations ◽  
Epileptic Seizures ◽  
Vascular Tumor ◽  
Intracranial Lesions ◽  
History Of ◽  
Persistent Headache ◽  
And Control

Primary pulmonary angiosarcoma (PPA) is a rare malignant vascular tumor, of which early diagnosis is challenging due to lack of specific clinical manifestations and a low level of suspicion. Here, we report a case of PPA presented with advanced brain metastasis. A 21-year-old patient with 1 week history of headache and mild cough was hospitalized for a head injury. Head MRI showed multiple intracranial lesions with brain edema. Chest CT displayed bilateral pulmonary infiltrates with mediastinal lymph node enlargement. After 2 months of anti-tuberculosis treatment, the patient was readmitted for persistent headache and cough with occasional hemosputum along with worsening pulmonary and intracranial lesions. Despite seizure prophylaxis and control of intracranial pressure and brain edema, his symptoms progressively aggravated, accompanied by cough with bloody sputum, frequent epileptic seizures, and hypotension. He eventually developed coma and died within 3 months of onset of symptoms. An autopsy confirmed PPA with brain metastasis.

scholarly journals Rett Syndrome without MECP2 Mutation in a Pakistani Girl

2020 ◽  
Vol 1 (2) ◽  
pp. 3
Author(s):  
Rubina Dad ◽  
Humaira Aziz Sawal ◽  
Arsalan Ahmad ◽  
Muhammad Ikram Ullah ◽  
Muhammad Jawad Hassan
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Social Behavior ◽  
Rett Syndrome ◽  
Causative Mutation ◽  
Nucleotide Variation ◽  
Mecp2 Gene ◽  
Pakistani Family ◽  
History Of ◽  
Electroencephalogram Eeg

Rett syndrome is a rare inherited neurodegenerative disease which mostly affects females but has a lethal impact on males. Rett syndrome is mostly caused by mutations of Methyl CpG binding protein-2 (MECP2) gene located on chromosome Xq28. A 7-year girl from a consanguineous Pakistani family presented with history of abnormal social behavior, tonic colonic seizures, limb'sataxia, intellectual disability, growth retardation and speech abnormalities. Physical and neurological examinations established likely clinical features of Rett syndrome with abnormal electroencephalogram (EEG). Genetic testing of MECP2 gene did not identify any functional nucleotide variation indicating the involvement of another gene mutation in this patient.A consanguineous case of Rett syndrome did not carry the mutation of MECP2 gene. Due to heterogeneity of the phenotype, it is proposed that there might be involvement of another locus for this disease. In future, targeted next generation sequence can be helpful to identify the causative mutation in this patient.

scholarly journals 1219 A CASE OF A NIGHT TIME AFFAIR

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A466-A466
Author(s):  
Hamed Ali ◽  
Suzanne Stevens
Keyword(s):  
Clinical Manifestations ◽  
Epileptic Seizures ◽  
Clinical History ◽  
Neurological Deficits ◽  
Acting Out ◽  
Night Time ◽  
Sleep Study ◽  
Interictal Spike ◽  
Obstructive Sleep ◽  
History Of

Abstract Introduction Sleep associated seizures especially Nocturnal Frontal Lobe Epilepsy (NFLE) represents a spectrum of challenging clinical manifestations presenting as complex nocturnal movements/behaviors, making the diagnosis often difficult. Report of Case A 64 y/o male, with history of ongoing complex movements occurring during his sleep, with no history of strokes or neurological deficits. Had extensive neurologic workup (all negative) including routine electroencephalogram (EEG), prolonged inpatient EEG (12 hours), and MRI of the brain. Home sleep study showing moderate obstructive sleep apnea (OSA) AHI 24/hour successfully treated with CPAP therapy (residual AHI 1.7/hour) with improved nighttime symptoms initially. Wife recalls events as happening only at night while sleep, as patient often confused upon waking up in the morning, at times appear to sit up and smack his lips. No nighttime hallucinations, sleep paralysis, or acting out dreams were reported. Had two episodes associated with tongue biting and loss of bladder control. Another episode happened after a daytime nap, patient went outside and was mowing his lawn, went “completely blank “, appeared confused. No daytime or nighttime seizures were ever noticed. Patient do not recall any of the above events. Repeat EEG was normal. MRI/MRA of the head /neck showed small tiny focus in left frontoparietal lobe, suggesting remote cortical ischemic injury. Polysomnography (PSG) with seizure montage showed Interictal epileptic discharges (IEDs) foci recorded in the frontal/frontopolar leads without accompanying body movements. Interictal spike and wave activity seen during stage N2. Initially treated with carbamazepine (had skin reaction) switched to levetiracetam with complete resolution of his symptoms. Conclusion This case illustrates the importance of reviewing the clinical history, behavior semiology, and diagnostic ancillary testing such as polysomnography with EEG monitoring in distinguishing nocturnal epileptic seizures from other nocturnal complex behavior disorders and parasomnias.

scholarly journals A Case of Rett Syndrome

2018 ◽  
Vol 29 (11-12) ◽  
pp. 241-4
Author(s):  
Samuel Lazuardi ◽  
Najib Advani ◽  
Sofyan Ismael
Keyword(s):  
Physical Examination ◽  
Laboratory Test ◽  
Rett Syndrome ◽  
Clinical Manifestations ◽  
Perinatal Period ◽  
Psychomotor Development ◽  
Hand Movements ◽  
First Case ◽  
History Of ◽  
Normal Head

A case of Rett syndrome in a-3 ½ year-old girl is presented. The patient had normal pre and perinatal period and normal psychomotor development till the age of 14 months, followed by behavioural, social and psychomotor regression. Physical examination revealed a below normal head circumference, loss of eye and psychic contact, stereotypic hand movements and gait disturbance. No laboratory test can confirm the diagnosis of Rett syndrome, therefore the diagnosis was established by virtue of history of illness and clinical manifestations. This is the first case of Rett syndrome found and reported in Indonesia.

Time Interval between First and Last Epileptic Seizures and Electroencephalogram Normalization in Benign Childhood Epilepsy with Centrotemporal Spikes: Influencing Factors

2020 ◽  
Vol 09 (02) ◽  
pp. 031-035
Author(s):  
Carmen Silvia Molleis Galego Miziara ◽  
Maria Laura Jorge Micheletto ◽  
Virginia Aparecida Gelmeti Serrano ◽  
Denise Harumi Nakanishi ◽  
Mário Ivo Serinolli ◽  
...  
Keyword(s):  
Epileptic Seizures ◽  
Time Interval ◽  
Childhood Epilepsy ◽  
Older Children ◽  
Epileptiform Discharges ◽  
History Of ◽  
The Mean ◽  
Factors Of Influence ◽  
Electroencephalogram Eeg ◽  
Mean Time

AbstractThe aim of this study was to evaluate the interval between the first and last seizures, the normalization of the electroencephalogram (EEG), and to identify factors of influence. Medical records of children were analyzed with benign childhood epilepsy with centrotemporal spikes. Variables age at first and last seizure, gender, interval between the first and last seizure, the first seizure and EEG normalization, lateralization of the epileptiform discharges, and last epileptic seizure and EEG normalization. The mean time between the first and last seizure was 3.34 years. Early onset of seizures and unilateral discharges were factors that increased the interval between the first and last seizures (p < 0.001). Interval between the last seizure and EEG normalization was 2.40 years, without influence of age (p = 0.986). Interval was shorter in bilateral discharges (p = 0.035). The antiepileptic medicine did not alter the natural history of disease progression. In younger children, the interval between last seizure and normalization of the EEG is reduced compared to older children.

scholarly journals NORWEGIAN SCABIES IN AIDS PATIENT: A CASE REPORT

2016 ◽  
Vol 6 (2) ◽  
pp. 49
Author(s):  
Indropo Agusni
Keyword(s):  
Skin Infection ◽  
Clinical Manifestations ◽  
Sarcoptes Scabiei ◽  
Clinical Findings ◽  
Chief Complaint ◽  
History Of ◽  
Previously Treated ◽  
Almost All ◽  
Histopathology Examination ◽  
Thick Crust

Scabies is a skin infection caused by Sarcoptes scabiei var. hominis. This disease may present severe clinical manifestations in immune-compromised patient, well-known as Norwegian scabies or crusted scabies.A 36-year old man with AIDS had chief complaint thick crust almost all over his body in this case. History of household member infected by scabies before was present. Clinical findings show hyperpigmented macules unsharply marginated, covered with thick scales and accompanied by papules, fissures, and erotion. T cell CD4 level was 12 cell/ µL. Scraping examination showed scabies infection and so did the histopathology examination. This patient was treated by topical Permethrin 5% combined with 2-4 ointment application in between permethrin usage. Before topical scabicide was given, thick crust was previously treated by topical urea 10% and wet dressing by normal saline. On day 14 after the patient first came there was lesion improvement.

From the Tower of London to the Thomas More Society of Buenos Aires: “Give me thy grace, good Lord, to set the world at nought”

Moreana ◽  
2005 ◽  
Vol 42 (Number 164) (4) ◽  
pp. 187-206
Author(s):  
Clare M. Murphy
Keyword(s):  
Buenos Aires ◽  
Short History ◽  
Thomas More ◽  
Tower Of London ◽  
Hebrew Poetry ◽  
Prayer Book ◽  
The World ◽  
History Of ◽  
Book Of Hours ◽  
Almost All

The Thomas More Society of Buenos Aires begins or ends almost all its events by reciting in both English and Spanish a prayer written by More in the margins of his Book of Hours probably while he was a prisoner in the Tower of London. After a short history of what is called Thomas More’s Prayer Book, the author studies the prayer as a poem written in the form of a psalm according to the structure of Hebrew poetry, and looks at the poem’s content as a psalm of lament.

STEREOTACTIC HYPO-FRACTIONAL RADIOTHERAPY OF PATIENTS WITH LUNG CANCER I-IIA CLINICAL STAGE: THE ROLE OF SUVMAX ASSESSMENT IN 18F-FDG PET/CT FOR MONITORING TREATMENT OUTCOMES

2017 ◽  
Vol 63 (4) ◽  
pp. 632-638
Author(s):  
Tatyana Borisova ◽  
Arif Allakhverdiev ◽  
Yuriy Gerasimov ◽  
Nadezhda Meshcheryakova ◽  
Mikhail Dolgushin ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Treatment Effectiveness ◽  
Clinical Stage ◽  
First Year ◽  
Pet Ct ◽  
History Of ◽  
Single Factor Analysis ◽  
Fdg Pet Ct ◽  
Second Tumor ◽  
Monitoring Treatment

Material and methods: Since 2014, 33 patients with lung cancer of clinical stage I-IIa (cT1N0M0 - 12 patients, with T2N0M0 - 21 patients) have undergone SRT. Verification of tumor process was obtained in 30 patients. A third of patients (n = 10) had a history of metachronic primary-multiple tumors and 31 patients had peripheral lung cancer. The used variants of SRT fractionation were as followed: 10Gr x 5 fractions (n = 22) and 7Gr x 8 fractions (n = 11) - BED 100Gy. Results: With a median follow-up of 21 months (range 3-37 months), 4 patients (12 %) within the first year had a loco-regional and distant progression, of which two died. During the year one patient died from complications of treatment, one - from the progression of the second tumor. One- and two-year local control was 94 %. Overall and disease-free 2-year survival was 84 % (95 % CI, 70 - 99) and 83.2 % (95 % CI, 70.5 - 99), respectively. Single-factor analysis revealed a significant effect on the overall survival of the fractionation regimen (p = 0.04). The effect of the baseline SUVmax tended to be reliable (p = 0.07). Conclusions: In order to implement the principles of risk-adaptive radiation therapy it is necessary to consider the initial SUVmax of tumor as one of potential predictive and predicative markers of treatment effectiveness.

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