scholarly journals Menkes Disease Presenting with Epilepsia Partialis Continua

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Tamer Rizk ◽  
Adel Mahmoud ◽  
Tahani Jamali ◽  
Salah Al-Mubarak
Keyword(s):  
Neurodegenerative Disorder ◽  
Menkes Disease ◽  
Epilepsia Partialis Continua ◽  
Case Presentation ◽  
Developmental Regression ◽  
Skeletal Changes ◽  
Gene Coding ◽  
Raising Awareness ◽  
Copper Supplementation ◽  
Prolonged Jaundice

Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua.Case Presentation. Seventeen-months-old Saudi infant was presented with repetitive seizures and was diagnosed to have epilepsia partialis continua.Discussion. Menkes disease (OMIM: 309400) is considered a rare, X-linked recessive neurodegenerative disorder resulting from a mutation in the gene coding for the copper transporting ATPase (ATP7A). Affected individuals usually present with kinky hair, skeletal changes, prolonged jaundice, hypothermia, developmental regression, decreased tone, spasticity, weakness, and therapy resistant seizures.Conclusion. Raising awareness of abnormal presentation of this rare disease may help in the control of seizures through subcutaneous copper supplementation.

scholarly journals Menkes' disease: case report

2007 ◽  
Vol 65 (1) ◽  
pp. 157-160 ◽  
Author(s):  
Fabio Agertt ◽  
Ana C.S. Crippa ◽  
Paulo J. Lorenzoni ◽  
Rosana H. Scola ◽  
Isac Bruck ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Background Activity ◽  
Neurodegenerative Disorder ◽  
Epileptiform Activity ◽  
Menkes Disease ◽  
Serum Levels ◽  
Visual Contact ◽  
Disease Case ◽  
Fiber Atrophy

Menkes’ disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes’ disease are discussed.

scholarly journals Retropharyngeal Abscess in an adult with Pneumonia during COVID-19 Outbreak in China

2020 ◽  
Author(s):  
Tianyu Wang ◽  
Haibin Liu ◽  
Caiquan Liang ◽  
Hang Zhang ◽  
Jianchun Liao ◽  
...  
Keyword(s):  
Foreign Body ◽  
Chest Ct ◽  
Retropharyngeal Abscess ◽  
Surgical Drainage ◽  
Case Presentation ◽  
Raising Awareness ◽  
Cervical Approach ◽  
Anterior Cervical Approach ◽  
Chest Ct Scan

Abstract Background: Retropharyngeal abscesses are rarely reported in adults and occur mostly in patients with immunocompromise or as a foreign body complication. Admittedly, the treatment of retropharyngeal abscesses frequently involves surgical drainage to achieve the best results. However, when retropharyngeal abscesses occurred in a highly suspected patient with COVID-19, the managements and treatments should be caution in order to prevent the spread of the virus. Case presentation: On Feb. 13, a 40-year-old male with retropharyngeal abscesses turned to our department complaining dyspnea and dysphagia. In addition, his chest CT scan shows a suspected COVID-19 infection, thus making out Multiple Disciplinary Team (MDT) determine to perform percutaneous drainage and catheterization through left anterior cervical approach under the guidance of B-ultrasound. Finally, the patient recovered and was discharged from the hospital on Feb. 27 after 14 days of isolation. There was no recurrence after half a year follow-up. Conclusions: By presenting this case, we aim at raising awareness of different surgical drainage methods and summarizing our experience in the management of retropharyngeal abscesses during the outbreak of COVID-19.

scholarly journals Menkes Disease- A Rare Neurodegenerative Disorder

2016 ◽  
Vol 35 (2) ◽  
pp. 177-180
Author(s):  
Richa Choudhary ◽  
Anita Choudhary ◽  
S Sitaraman
Keyword(s):  
White Matter Hyperintensities ◽  
Refractory Epilepsy ◽  
Neurodegenerative Disorder ◽  
Menkes Disease ◽  
Serum Copper ◽  
Progressive Neurodegeneration ◽  
Refractory Seizures ◽  
Sparse Hair ◽  
Pili Torti ◽  
Low Serum

Menkes Disease is a rare neurological disorder of impaired copper transport, characterized by progressive neurodegeneration, refractory epilepsy and characteristic hair abnormalities. Here, we report a 5 month old child with developmental delay, refractory seizures, and hypopigmented short, sparse hair with microscopic pili torti; low serum copper and ceruloplasmin and neuroimaging revealing white matter hyperintensities and tortuous vessels.J Nepal Paediatr Soc 2015;35(2):177-180

scholarly journals Neuronal intranuclear inclusion disease presented with recurrent vestibular migraine-like attack: a case presentation

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Danhua Zhao ◽  
Sha Zhu ◽  
Qinlan Xu ◽  
Jianwen Deng ◽  
Zhaoxia Wang ◽  
...  
Keyword(s):  
Neurodegenerative Disorder ◽  
Brain Magnetic Resonance Imaging ◽  
Vestibular Migraine ◽  
Sweat Glands ◽  
Intranuclear Inclusion ◽  
Case Presentation ◽  
Disturbance Of Consciousness ◽  
Corticomedullary Junction ◽  
Electrophysiological Studies ◽  
Neuronal Intranuclear Inclusion

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder characterized by dementia, tremor, episodic encephalopathy and autonomic nervous dysfunction. To date, vestibular migraine (VM)-like attack has never been reported in cases with NIID. Here, we describe an 86-year-old patient with NIID who presented with recurrent vertigo associated with headache for more than 30 years. Case presentation An 86-year-old Chinese woman with vertigo, headache, weakness of limbs, fever, and disturbance of consciousness was admitted to our hospital. She had suffered from recurrent vertigo associated with headache since her 50 s,followed by essential tremor and dementia. On this admission, brain magnetic resonance imaging revealed high intensity signals along the corticomedullary junction on diffusion weighted imaging (DWI). Peripheral neuropathy of the extremities was detected through electrophysiological studies. We diagnosed NIID after detecting eosinophilic intranuclear inclusions in the ductal epithelial cells of sweat glands and identifying an abnormal expansion of 81 GGC repeats in the 5’UTR of NOTCH2NLC gene. Conclusions VM-like attack may be associated with NIID.

Skeletal Dysplasias

2019 ◽  
pp. 231-234
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Skeletal Dysplasia ◽  
Clinical Case ◽  
Long Bone ◽  
Case Presentation ◽  
Skeletal Dysplasias ◽  
Skeletal Changes ◽  
Testing Approach ◽  
Aid Decision

This chapter discusses a general approach to diagnosing and preparing for the birth of an infant with a skeletal dysplasia. The discussion on the prenatal evaluation includes the importance of the gestational age at which US skeletal changes are apparent, the assessment of body proportions, as well as nd bone density and morphology. The ratio of long bone to chest circumference can guide a determination of viability or lethality. Rapid targeted prenatal exome testing may aid decision making. Formation of a prenatal birth plan is suggested. Recommendations on evaluating an infant with a skeletal dysplasia after birth include how and what to measure, what radiographs to order and how to pick the most relevant genetic testing approach. The importance of genetic follow up is stressed. The clinical case presentation features an infant with hypochondrogenesis.

scholarly journals Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein

2012 ◽  
Vol 303 (11) ◽  
pp. G1236-G1244 ◽  
Author(s):  
Yanfang Wang ◽  
Sha Zhu ◽  
Victoria Hodgkinson ◽  
Joseph R. Prohaska ◽  
Gary A. Weisman ◽  
...  
Keyword(s):  
Neurodegenerative Disorder ◽  
Menkes Disease ◽  
Copper Accumulation ◽  
Loss Of Function ◽  
Gene Encoding ◽  
Dietary Copper ◽  
Postnatal Mortality ◽  
Disease Protein ◽  
Lactating Females ◽  
Specific Deletion

The essential requirement for copper in early development is dramatically illustrated by Menkes disease, a fatal neurodegenerative disorder of early childhood caused by loss-of-function mutations in the gene encoding the copper transporting ATPase ATP7A. In this study, we generated mice with enterocyte-specific knockout of the murine ATP7A gene ( Atp7a) to test its importance in dietary copper acquisition. Although mice lacking Atp7a protein within intestinal enterocytes appeared normal at birth, they exhibited profound growth impairment and neurological deterioration as a consequence of copper deficiency, resulting in excessive mortality prior to weaning. Copper supplementation of lactating females or parenteral copper injection of the affected offspring markedly attenuated this rapid demise. Enterocyte-specific deletion of Atp7a in rescued pregnant females did not restrict embryogenesis; however, copper accumulation in the late-term fetus was severely reduced, resulting in early postnatal mortality. Taken together, these data demonstrate unique and specific requirements for enterocyte Atp7a in neonatal and maternofetal copper acquisition that are dependent on dietary copper availability, thus providing new insights into the mechanisms of gene-nutrient interaction essential for early human development.

Experience in Diagnosing Neuronal Ceroid Lipofuscinosis Type-2

2021 ◽  
Vol 71 (5) ◽  
pp. 234-240
Author(s):  
Lanny Christine Gultom ◽  
Valensia Vivian The
Keyword(s):  
Neurodegenerative Disorder ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Early Stage ◽  
Diagnostic Delay ◽  
Compound Heterozygous ◽  
Recurrent Seizure ◽  
Enzyme Replacement ◽  
Ceroid Lipofuscinosis ◽  
Developmental Regression

Introduction: Developmental regression is always an alarming symptom in children as it is an early sign of some genetic disorders, one of which is neuronal ceroid lipofuscinosis (NCL). NCL is a group of rare neurodegenerative disorder caused by accumulation of intracellular ceroid lipofuscin. Since 2017 an enzyme replacement therapy (ERT) has been approved by Food and Drug Administration (FDA) for this disease. The symptoms of NCL could be managed by ERT if detected early, and the child could live normally.Case: We present a case of a 6-year-and-5-month-old boy with developmental regression, speech delay, recurrent seizure, and visual impairment, who was diagnosed with NCL type 2 after genetic testing. Compound heterozygous mutations in tripeptidyl-peptidase 1 (TPP1) gene was revealed, consistent with very low level of TPP1 enzyme in this patient.Discussion: NCL is a fatal disease which is often misdiagnosed in early stage. Diagnostic delay of NCL often occurs due to lack of awareness which often leads to premature death.Conclusion: Knowledge regarding the disease is important for early detection and to slow down the disease progression.  

scholarly journals NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease

2020 ◽  
Vol 79 (10) ◽  
pp. 1065-1071
Author(s):  
Ivana Jedlickova ◽  
Anna Pristoupilova ◽  
Helena Hulkova ◽  
Alena Vrbacka ◽  
Viktor Stranecky ◽  
...  
Keyword(s):  
Skin Biopsy ◽  
Neurodegenerative Disorder ◽  
Brain Mri ◽  
Cerebellar Atrophy ◽  
Intranuclear Inclusion ◽  
Negative Results ◽  
Developmental Regression ◽  
Cgg Repeats ◽  
Long Read ◽  
Neuronal Intranuclear Inclusion

Abstract Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder categorized into 3 phenotypic variants: infantile, juvenile, and adult. Four recent reports have linked NIID to CGG expansions in the NOTCH2NLC gene in adult NIID (aNIID) and several juvenile patients. Infantile NIID (iNIID) is an extremely rare neuropediatric condition. We present a 7-year-old male patient with severe progressive neurodegenerative disease that included cerebellar symptoms with cerebellar atrophy on brain MRI, psychomotor developmental regression, pseudobulbar syndrome, and polyneuropathy. The diagnosis of iNIID was established through a postmortem neuropathology work-up. We performed long-read sequencing of the critical NOTCH2NLC repeat motif and found no expansion in the patient. We also re-evaluated an antemortem skin biopsy that was collected when the patient was 2 years and 8 months old and did not identify the intranuclear inclusions. In our report, we highlight that the 2 methods (skin biopsy and CGG expansion testing in NOTCH2NLC) used to identify aNIID patients may provide negative results in iNIID patients.

Sign in / Sign up

Export Citation Format

Share Document