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

Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease

2021 ◽  
pp. 1-4
Author(s):  
Marimar Sáez-de-Ocariz ◽  
Ana Sylvia Aguilar-Sarmiento ◽  
Maria Adelaida Garcés-Abad ◽  
Paulina Vázquez-Arroyo ◽  
Maria Teresa García-Romero ◽  
...  
Keyword(s):  
Light Microscopy ◽  
Neurodegenerative Disorder ◽  
Menkes Disease ◽  
Male Infant ◽  
Hair Shaft ◽  
First Year ◽  
Copper Distribution ◽  
Hispanic Male ◽  
Muscle Hypotonia ◽  
Pili Torti

Menkes disease (MD) is a rare X-linked recessive neurodegenerative disorder caused by mutations in the <i>ATP7A</i> gene, with a high mortality rate within the first 3 years of life. It typically affects males and is characterized by impaired copper distribution and malfunction of several copper-dependent enzymes. Patients develop progressive muscle hypotonia associated with neurological damage and hair shaft dysplasia – particularly pili torti. Pili torti is usually very subtle in the first 3 months of life and gradually increases during the first year. Light microscopy examination in search for pili torti requires the observation of more than 50 hair shafts. In contrast, trichoscopy with a hand-held dermatoscope allows to easily identify the hair shaft defect. We report a case of a Hispanic male infant with MD in whom we show that trichoscopy is superior to hair light microscopy in revealing pili torti.

Seizures following surgery for supratentorial extratemporal low-grade tumors in children: a multicenter retrospective study

2020 ◽  
Vol 26 (1) ◽  
pp. 27-33
Author(s):  
Jonathan Roth ◽  
Or Bercovich ◽  
Ashton Roach ◽  
Francesco T. Mangano ◽  
Arvind C. Mohan ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Brain Tumors ◽  
Seizure Control ◽  
Seizure Activity ◽  
Refractory Epilepsy ◽  
Low Grade ◽  
Refractory Seizures ◽  
Low Rate ◽  
Over Time ◽  
New Onset

OBJECTIVEResection of brain tumors may lead to new-onset seizures but may also reduce seizure rates in patients presenting with seizures. Seizures are seen at presentation in about 24% of patients with brain tumors. For lesional epilepsy in general, early resection is associated with improved seizure control. However, the literature is limited regarding the occurrence of new-onset postoperative seizures, or rates of seizure control in those presenting with seizures, following resections of extratemporal low-grade gliomas (LGGs) in children.METHODSData were collected retrospectively from 4 large tertiary centers for children (< 18 years of age) who underwent resection of a supratentorial extratemporal (STET) LGG. The patients were divided into 4 groups based on preoperative seizure history: no seizures, up to 2 seizures, more than 2 seizures, and uncontrolled or refractory epilepsy. The authors analyzed the postoperative occurrence of seizures and the need for antiepileptic drugs (AEDs) over time for the various subgroups.RESULTSThe study included 98 children. Thirty patients had no preoperative seizures, 18 had up to 2, 16 had more than 2, and 34 had refractory or uncontrolled epilepsy. The risk for future seizures was higher if the patient had seizures within 1 month of surgery. The risk for new-onset seizures among patients with no seizures prior to surgery was low. The rate of seizures decreased over time for children with uncontrolled or refractory seizures. The need for AEDs was higher in the more active preoperative seizure groups; however, it decreased with time.CONCLUSIONSThe resection of STET LGGs in children is associated with a low rate of postoperative new-onset epilepsy. For children with preoperative seizures, even with uncontrolled epilepsy, most have a significant improvement in the seizure activity, and many may be weaned off their AEDs.

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 Infantile Neurodegeneration and Hair Changes: A Rare Case of Menkes Disease

2022 ◽  
pp. 1-4
Author(s):  
Nikhil Vikas Pawar ◽  
Fatima Farid Mir
Keyword(s):  
Seizure Activity ◽  
Multidisciplinary Care ◽  
Menkes Disease ◽  
Symptomatic Treatment ◽  
Serum Copper ◽  
Subcortical White Matter ◽  
Acute Onset ◽  
Hair Shaft ◽  
Recurrent Seizure ◽  
Antiepileptic Medications

A 4-month-old, previously healthy boy presented with acute onset of prolonged, recurrent seizure activity followed by neurodevelopmental deterioration and concurrent hair shaft hypopigmentation with fragility. Initial evaluation revealed significant low serum copper and ceruloplasmin, electrical status epilepticus on electroencephalography, and generalized subcortical white matter changes with diffuse tortuosity of intracranial vessels on MRI brain. In addition, a genetic study with whole-genome sequencing demonstrated a hemizygous pathogenic variant at c.2179G&#x3e;A p(Gly727Arg) on ATP7A, thereby confirming the diagnosis of Menkes disease. Symptomatic treatment with antiepileptic medications was provided along with an urgent referral to an advanced center for multidisciplinary care and copper histidine replacement therapy.

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.

Low serum copper level and neural tube defect: A case control study

2007 ◽  
Vol 24 (1) ◽  
pp. 68
Author(s):  
Abbas Ali Keshtkar ◽  
Mohammad Jafar Golalipoor ◽  
Azad Reza Mansourian
Keyword(s):  
Neural Tube ◽  
Neural Tube Defect ◽  
Case Control Study ◽  
Case Control ◽  
Serum Copper ◽  
Copper Level ◽  
Serum Copper Level ◽  
Control Study ◽  
Low Serum

scholarly journals A MENKES DISEASE CASE WITH MULTILABEL COMORBIDITIES

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Salha Alhjohani
Keyword(s):  
Tract Infection ◽  
Copper Metabolism ◽  
Menkes Disease ◽  
Upper Respiratory Tract ◽  
Incurable Disease ◽  
Rare Congenital Disorder ◽  
Disease Case ◽  
Progressive Neurodegeneration ◽  
Parental Counseling ◽  
Upper Respiratory

We report our case of a 15 months old male child, a product of nonconsanguineous marriage presented with increased seizure frequency more than 4 times a day with fever and upper respiratory tract infection for 1 month. He diagnosed with Menkes disease and his oldest brother died at age of 5 year due to the same disease. Menkes disease is a rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and connective tissue anomalies. He had almost the typical clinical finding but also, he had other complications which are non commonly found in such cases. As the Menkes disease is incurable disease, early diagnosis and parental counseling is very important for the mother in order to prevent getting a child with same disease.

scholarly journals A retrospective analysis of the efficacy and tolerability of treatment with everolimus in treatment-refractory epilepsy associated with tuberous sclerosis

2020 ◽  
Vol 48 (1) ◽  
pp. 1-6
Author(s):  
A. V. Grigoryeva ◽  
M. Yu. Dorofeeva ◽  
V. S. Perminov ◽  
E. D. Belousova
Keyword(s):  
Tuberous Sclerosis ◽  
Mtor Inhibitor ◽  
Autosomal Dominant ◽  
Refractory Epilepsy ◽  
Subependymal Giant Cell Astrocytoma ◽  
Renal Angiomyolipoma ◽  
Multisystem Disorder ◽  
Epileptic Spasms ◽  
The Russian Federation ◽  
Refractory Seizures

Rationale: Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by multiple multi-organ hamartomas. Medically refractory epilepsy (MRE) occurs in up to 60% of TSC patients. The results of the EXIST-3 study have shown the efficacy of MRE treatment with an mTOR inhibitor everolimus. In the Russian Federation, the drug has been approved since 2017 for the treatment of TSC-associated MRE in patients above 2 years of age. Aim: To assess the efficacy of everolimus for treatment of medically refractory seizures associated with TSC. Materials and methods: We retrospectively analyzed medical files from 89 patients with TSC who had been admitted with MRE to the Department of Psychoneurology and Epileptology, Research and Clinical Institute for Pediatrics (Moscow, Russia) from November 2016 to December 2018. The patients were divided into three groups depending on their indications for everolimus: 1) 17 patients received with MRE; 2) 64 patients with MRE and subependymal giant cell astrocytoma (SEGA) of > 1 cm in diameter; 3) 8 patients with MRE and renal angiomyolipoma (AML) of > 3 cm in diameter. Their median age was 7.9 year (range, from 2 to 34 years). There were 45 (50.6%) male and 44 (49.4%) female patients. Their treatment lasted from 6 months to 5 years; the dose of everolimus was 8 mg/m2 . Focal seizures were more prevalent than epileptic spasms: 60 (67.4%) and 29 (32.6%) patients, respectively. Results: There were 9/17 (52.9%) responders in the MRE group, 16/64 (25%) in the MRE + SEGA group, and 4/8 (50%) in the MRE + AML group. Mild to moderate stomatitis was the most frequent side effect (40.5%). Conclusion: Everolimus is a new important agent for MRE in TSC patients. Treatment with everolimus is safe and well tolerated.

Disorders of Epidermal Appendages

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Ectodermal Dysplasia ◽  
Menkes Disease ◽  
Hair Shaft ◽  
Sweat Glands ◽  
Type I ◽  
Trichorhinophalangeal Syndrome ◽  
Steatocystoma Multiplex ◽  
Pili Trianguli Et Canaliculi ◽  
Nail Patella Syndrome ◽  
Pili Torti

Chapter 3 starts by covering conditions of the hair, including Alopecias (Loose Anagen Hair, Male Pattern Baldness, and Marie Unna Syndrome), Hirsutism (Gingival Fibromatosis and Hypertrichosis, Hypertrichosis Lanuginosa Congenita, Leprechaunism, and Localized Hypertrichosis), and Hair Shaft Abnormalities (including Monilethrix, Pili Annulati, Pili Torti, Pili Trianguli Et Canaliculi, Trichorrhexis Invaginata, Trichorrhexis Nodosa, Woolly Hair, Menkes Disease, Trichodentoosseous Syndrome, Trichorhinophalangeal Syndrome, and Trichothiodystrophy). It then covers conditions of the nails, including Congenital Malalignment of the Great Toenails, Familial Dystrophic Shedding of the Nails, Leukonychia, Twenty-Nail Dystrophy, Nail-Patella Syndrome, Onychotrichodysplasia and Neutropenia, and Pachyonychia Congenita). Conditions of the Sweat Glands (Hidradenitis Suppurativa, Hyperhidrosis, and Multiple Syringomas), Sebaceous Glands (Eruptive Vellus Hair Cysts, Familial Dyskeratotic Comedones, Oral-Facial-Digital Syndrome Type I, and Steatocystoma Multiplex), and Ectodermal Dysplasia Syndromes (AEC Syndrome, Clouston Syndrome, EEC Syndrome, Focal Facial Ectodermal Dysplasia, GAPO Syndrome, Hypohidrotic Ectodermal Dysplasia, and Tooth and Nail Syndrome) are also covered. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

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