Leigh Syndrome—TUFM Gene Mutation as a New Probable Genetic Marker: A Case Report

2020 ◽  
Author(s):  
Nikhil Jain ◽  
Harshit Bhargava ◽  
Deepak Dwivedi
Keyword(s):  
Genetic Marker ◽  
Gene Mutation ◽  
Genetic Study ◽  
Neurodegenerative Disorder ◽  
Tube Feeding ◽  
Pediatric Intensive Care ◽  
Leigh Syndrome ◽  
Clonic Seizure ◽  
Seizure Type ◽  
Chief Complaints

AbstractLeigh's syndrome is a rare neurodegenerative disorder which is of autosomal recessive or mitochondrial inheritance. Global incidence is 1 in 40,000 although very few cases have been reported from India. Respiratory failure is the main cause of death in these children. An 8-year-old female presented to pediatric intensive care unit with chief complaints of seizure (generalized tonic-clonic seizure type), generalized weakness, and swelling, which on MRI and genetic study was diagnosed as Leigh syndrome or Leigh like syndrome. Genetic study revealed a new TUFM gene mutation. Patient improved over the time, oxygen was weaned gradually, and nasogastric tube feeding started, and patient shifted to ward, and discharged on oral antiepileptic therapy. A genetic counseling, early diagnosis, better understanding of disease can result in good seizure control and improved quality of life of these patients. TUFM gene mutation must be considered as a new probable genetic marker.

scholarly journals Bilateral horizontal gaze palsy in an 8-year-old girl; a rare case with NDUFS4 gene mutation: a case report and literature review

2019 ◽  
Author(s):  
Mohammad Vafaee-Shahi ◽  
Saeide Ghasemi ◽  
Mehran Beiraghi Toosi ◽  
Mahmoud Reza Ashrafi ◽  
Reza Shervin Badv ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Gene Mutation ◽  
Genetic Test ◽  
Neurodegenerative Disorder ◽  
Brain Mri ◽  
Clinical Signs ◽  
Leigh Syndrome ◽  
Resonance Spectroscopy ◽  
Horizontal Gaze ◽  
Gaze Palsy

Abstract Background: Leigh syndrome (LS) is a rare and inherited disease which is associated with progressive neurological disorders. The molecular underlying mechanism in LS is defined with some defects in mitochondrial respiratory chain enzymes. Case presentation: Here, an 8-year-old girl is reported with bilateral horizontal gaze palsy, ataxia and drowsiness. She developed unsteady gait, drowsiness, progressive ataxia and intention tremor during her admission period. The laboratory tests were reported within normal values including biochemical, hematological, immunological, infectious and inflammatory markers and blood and cerebrospinal fluid (CSF) lactate. Brain magnetic resonance imaging (MRI) demonstrated dorsal midbrain, bilateral putamen nuclei and cerebellar dentate nucleus involvement. Ocular examination revealed retinal atrophy and pale disk in both sides. These symptoms were in favor of a neurodegenerative disorder. Magnetic resonance spectroscopy (MRS) revealed an elevated lactate peak in involved areas which suggested a mitochondrial disease. Finally, the molecular genetic test reported NDUFS4 gene mutation which confirmed the presence of Leigh syndrome. She responded significantly to mitochondrial treatment cocktail and clinical signs and symptoms improved gradually. NDFUS4 gene encodes a subunit of mitochondrial complex I (NADH: ubiquinone oxidoreductase) that removes electrons from NADH and transfers them to the electron acceptor ubiquinone. Conclusion: Our findings indicated that various symptoms and clinical features can be found in Leigh syndrome which could be probably due to different mutations in mitochondrial genes. Therefore, appropriate clinical and laboratory settings along with brain MRI, MRS and genetic test analysis would be necessary for the early diagnosis.

scholarly journals WT1 gene mutation in exone 7 in boy with disturbance of the sex formation and the bilateral nephroblastoma

2020 ◽  
Vol 64 (6) ◽  
pp. 94-97
Author(s):  
N. R. Akramov ◽  
I. V. Osipova ◽  
A. M. Zakirova ◽  
E. I. Khaertdinov ◽  
E. L. Rashitova
Keyword(s):  
Gene Mutation ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Lower Pole ◽  
Molecular Genetic Study ◽  
Metachronous Tumor ◽  
The Right ◽  
Surgical Operations ◽  
I Gene ◽  
Final Operation

The case of observing a patient with WT1 gene mutation in exone 7 with bilateral Wilms metachronous tumor, disturbance of the sex formation in the form of scrotal hypospadias and bilateral abdominal cryptorchidism, without nephropathy, is presented. The child underwent surgical operations: left-sided nephrectomy, resection of the lower pole of the right kidney, bilateral orchiopexy and two-stage hypospadias correction. 7 years after the start of treatment and 3 years after the final operation, the condition of the child was estimated as satisfactory. The presented case by the results of the molecular genetic study has no previously described analogues and requires further observation.

scholarly journals Obsessive compulsive symptoms in patients with primary generalized and partial onset epilepsy

2018 ◽  
Vol 6 (4) ◽  
pp. 1183
Author(s):  
Sagar Lavania ◽  
Mohd. Aleem Siddiqui ◽  
Shantanu Bharti ◽  
Abhishek Kumar
Keyword(s):  
Clonic Seizure ◽  
Tonic Clonic Seizure ◽  
Seizure Type ◽  
Check List ◽  
Onset Seizure ◽  
Obsessive Compulsive ◽  
Obsessive Compulsive Symptoms ◽  
Partial Onset Seizure ◽  
The Mean ◽  
Patients With Epilepsy

Background: To find out and compare the obsessive-compulsive symptoms / disorder among patients of primary generalized and partial onset epilepsy.Methods: Patients with epilepsy diagnosed clinically at psychiatric out patient’s department were selected for the study and categorized as primary generalized onset tonic clonic seizure type and partial onset seizure. Yale-Brown obsessive-compulsive symptoms check list and scale was applied to find out the obsessive-compulsive symptoms.Results: A total of 110 patients were categorized as primary generalized (GE) 49 and partial onset epilepsy (PE) 61 patients. Obsessive-Compulsive Symptoms (OCS) were found to be 19.9%, and OCD among 3.63%. Mean Y-BOCS scores for obsession were found to be 3.77±1.93 and 4.93±2.03, (t = -3.034, df= 108, p= .003). Whereas the mean Y-BOCS compulsions score was 2.93±1.96 and 4.62±1.87 was (t = -4.590, df= 108, p= .000) for GE and PE group respectively.Conclusions: OCD and OCS among the epilepsy patients were found to be 3.63%, and 19.9% respectively, and significantly higher mean obsessive and compulsive score were found for the group of partial onset epilepsy.

MRI in Leigh syndrome with SURF1 gene mutation

2002 ◽  
Vol 51 (1) ◽  
pp. 138-149 ◽  
Author(s):  
Mario Savoiardo ◽  
Massimo Zeviani ◽  
Graziella Uziel ◽  
Laura Farina
Keyword(s):  
Gene Mutation ◽  
Leigh Syndrome

scholarly journals Absence-to-bilateral-tonic-clonic seizure

Neurology ◽  
2020 ◽  
Vol 95 (14) ◽  
pp. e2009-e2015
Author(s):  
Sándor Beniczky ◽  
Guido Rubboli ◽  
Athanasios Covanis ◽  
Michael R. Sperling
Keyword(s):  
Clonic Seizure ◽  
Tonic Clonic Seizure ◽  
Seizure Type ◽  
Absence Seizures ◽  
High Incidence ◽  
Clinical Background ◽  
Impaired Awareness ◽  
Clonic Seizures ◽  
Clonic Convulsions ◽  
Video Eeg

ObjectiveTo test the hypothesis that absence seizures can evolve to generalized tonic-clonic seizures, we documented electroclinical features of this novel seizure type.MethodsIn 4 large video-EEG databases, we identified recordings of seizures starting with impaired awareness that, without returning to baseline interictal state, evolved to generalized tonic-clonic seizures. We extracted the detailed semiologic and electrographic characteristics of these seizures, and we documented the clinical background, diagnoses, and therapeutic responses in these patients.ResultsWe identified 12 seizures from 12 patients. All seizures started with a period of impaired awareness and bursts of generalized spike or polyspike and slow-wave discharges, the hallmark of absence seizures. Without returning to baseline, the nonmotor (absence) phase was followed by tonic-clonic convulsions. We called this novel generalized seizure type absence-to-bilateral-tonic-clonic seizure. Most patients had idiopathic generalized epilepsies, although with a high incidence of unusual features and poor therapeutic response.ConclusionsAbsence-to-bilateral-tonic-clonic seizures are a novel generalized seizure type. Clinicians should be aware of this seizure for correctly diagnosing patients. This novel seizure type may further elucidate generalized ictogenesis.

Alaskan Husky encephalopathy - a canine neurodegenerative disorder resembling subacute necrotizing encephalomyelopathy (Leigh syndrome)

2000 ◽  
Vol 100 (1) ◽  
pp. 50-62 ◽  
Author(s):  
O. Brenner ◽  
Joseph J. Wakshlag ◽  
Brian A. Summers ◽  
A. de Lahunta
Keyword(s):  
Neurodegenerative Disorder ◽  
Leigh Syndrome

scholarly journals Toxic epidermal necrosis associated with phenobarbitone: a case report and brief review of the literatures

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Biniyam A. Ayele ◽  
Kemal Ali ◽  
Eliyas Mulatu
Keyword(s):  
Case Report ◽  
Wound Care ◽  
Pediatric Population ◽  
Tube Feeding ◽  
Skin Surface ◽  
Clonic Seizure ◽  
Stevens Johnson Syndrome ◽  
Low Grade ◽  
Patient Reported ◽  
Epidermal Necrosis

Abstract Background Toxic epidermal necrolysis (TEN)/Stevens–Johnson syndrome (SJS) is the spectrum of severe, acute, mucocutaneous, T-cell mediated delayed type IV hypersensitivity reaction and universally related to different drugs. Phenobarbitone is known to cause hypersensitivity reactions with benign pattern; ranging from a mild to moderate rashes but not life-threatening reactions such as TEN/SJS. Case report We report a 14-year-old asthmatic male patient admitted to a local hospital for an acute exacerbation of asthma, after he presented with shortness of breath, cough, and fever. He was treated with bronchodilator and antibiotics. On subsequent days, the patient developed new onset generalized tonic clonic seizure in the hospital for which he was started on phenobarbitone of 100 mg twice daily. Two weeks after initiation of phenobarbitone, the patient developed extensive blistering skin eruptions; which subsequently exfoliated unevenly. Associated with the hypersensitivity skin reaction, the patient reported low grade fever, sore throat, and dysphagia. The exfoliation also involved oral and conjunctival mucosa; with estimated 65% body surface area involvement. The laboratory investigations were relevant for mild leucocytosis, prolonged prothrombin time, and reduced albumin. Phenobarbitone was discontinued and replaced with clonazepam; and the patient was managed with fluids replacement, IV antibiotics, twice daily wound care, analgesics, and naso gastric tube feeding. On subsequent days the patients’ clinical condition started improving; the skin lesion also started to heal and exfoliate in most of the affected skin surface areas, and the patient was discharged improved after ten days of intensive care unit. Conclusion In summary, the present case describes, a 14-years-old young child with history of asthma and seizure disorder; and developed toxic epidermal necrosis following exposure to Phenobarbitone. This case also highlighted the better prognosis observed in pediatric population with TEN.

Characteristics of epilepsy in a population based cohort of adults with learning disability

1999 ◽  
Vol 16 (1) ◽  
pp. 5-9 ◽  
Author(s):  
Shoumitro Deb ◽  
Joseph Joyce
Keyword(s):  
General Population ◽  
Learning Disability ◽  
Social Services ◽  
Learning Disabled ◽  
Population Based ◽  
Clonic Seizure ◽  
Tonic Clonic Seizure ◽  
Seizure Type ◽  
Clonic Seizures ◽  
Disabled Adults

AbstractObjectives: The purpose of the study was to define various aspects of epilepsy in a population based sample of adults with a learning disability.Method: A purpose-designed questionnaire was used to collect information on various aspects of epilepsy on 143 adults with a learning disability and epilepsy. Names of these subjects were collected from a hospital for learning disabled adults, specialist epilepsy clinics and social services department. Data was gathered from case notes and direct patient examination.Results: Generalised tonic clonic seizure was the most common seizure type. Seventy-three per cent sustained a seizure within the previous 12 months of the study. Abnormal EEG findings including excessive slow background activities and epileptiform waves were documented in a high proportion of subjects with a learning disability and epilepsy.Conclusions: Both resistant epilepsy and generalised tonic clonic seizures seem to be more frequent among the learning disabled population compared with the general population.

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