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>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 Sudden altered mental state in the elderly: nonconvulsive status epilepticus and the role of the Emergency Department

2011 ◽  
Vol 5 (1) ◽  
pp. 15-25
Author(s):  
Rocco Galimi
Keyword(s):  
Status Epilepticus ◽  
Seizure Activity ◽  
The Elderly ◽  
Altered Mental Status ◽  
Nonconvulsive Status Epilepticus ◽  
Recurrent Seizure ◽  
Memory Problems ◽  
Altered Mental State ◽  
New Onset

In the elderly, new onset of epilepsy is often associated with vague complaints such as confusion, altered mental status, or memory problems. The absence of clinically apparent convulsions in association with an electroencephalogram showing continuous or recurrent seizure activity has been called nonconvulsive status epilepticus (NCSE). The purpose of this article is to describe the clinical and electroencephalographic features of NCSE in older adults. NCSE is an important, under-recognised and reversible cause of acute prolonged confusion. Although attempts have been made to define and classify this disorder, there is no universally accepted definition or classification yet that encompasses all subtypes or electroclinical scenarios. A urgent electroencephalogram is considered as the method of choice in the diagnostic evaluation of NCSE. Further researches are needed to better define NCSE.

scholarly journals Hemosiderin, a possible biomarker for sudep?

2021 ◽  
Vol 29 ◽  
Author(s):  
Andressa Sampaio Pereira ◽  
Patrícia de Morais Ferreira Brandão ◽  
Jerónimo A Auzmend ◽  
Alberto Lazarowski
Keyword(s):  
Seizure Activity ◽  
Neurological Diseases ◽  
Fatal Outcome ◽  
Glycoprotein P ◽  
Recurrent Seizure ◽  
Cardiac Action ◽  
P Glycoprotein ◽  
Cellular Excitability ◽  
Fatal Arrhythmia ◽  
Clonic Seizures

Epilepsy is one of the neurological diseases of complex etiology that affects around 50 million people worldwide and is characterized by abnormal electrical activity and recurrent seizures. Uncontrolled generalized repetitive tonic-clonic seizures (GTCS) are the main causes of unexpected sudden death in epilepsy (SUDEP). Hypoxic stress induced by seizure results in neurocardiogenic dysfunctions, including iron overload and cardiomyopathy (IOC) which is related to severe lipid peroxidation caused by the production of reactive oxygen species (ROS). ROS induces recurrent seizure activity, favoring the overexpression of P glycoprotein (P-gp) in the heart. P-gp plays a depolarizing role in cardiomyocyte membranes and potassium (Kir) channels control cellular excitability regarding the repolarization of the cardiac action potential. All these events result in a possible appearance of severe bradycardia and fatal arrhythmia. Several studies have sought evidence for different possible biomarkers for potential prediction of the risk of SUDEP avoiding its fatal outcome.

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.

Disorders of Epidermal Appendages

2012 ◽  
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

Hair – Alopecias – Loose Anagen Hair – Male Pattern Baldness – Marie Unna Syndrome – Hirsutism – Gingival Fibromatosis and Hypertrichosis – Hypertrichosis Lanuginosa Congenita – Leprechaunism – Localized Hypertrichosis – Polycystic Ovarian Disease – Hair Shaft Abnormalities, Isolated – Monilethrix – Pili Annulati – Pili Torti – Pili Trianguli Et Canaliculi – Trichorrhexis Invaginata – Trichorrhexis Nodosa – Woolly Hair – Hair Shaft Abnormalities, Syndromic – Menkes Disease – Trichodentoosseous Syndrome – Trichorhinophalangeal Syndrome – Trichothiodystrophy – Nails – Nail Disorders, Isolated – Congenital Malalignment of the Great Toenails – Familial Dystrophic Shedding of the Nails – Leukonychia – Twenty-Nail Dystrophy – Nail Disorders, Syndromic – Nail-Patella Syndrome – Onychotrichodysplasia and Neutropenia – Pachyonychia Congenita – Sweat Glands – Hidradenitis Suppurativa – Hyperhidrosis – Multiple Syringomas – Sebaceous Glands – Eruptive Vellus Hair Cysts – Familial Dyskeratotic Comedones – Oral-Facial-Digital Syndrome Type I – Steatocystoma Multiplex – Ectodermal Dysplasia Syndromes – AEC Syndrome – Clouston Syndrome – EEC Syndrome – Focal Facial Ectodermal Dysplasia – GAPO Syndrome – Hypohidrotic Ectodermal Dysplasia – Tooth and Nail Syndrome

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 A Seizure and Hemiplegia following Contrast Exposure: Understanding Contrast-Induced Encephalopathy

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
Bhargavi Donepudi ◽  
Steven Trottier
Keyword(s):  
Seizure Activity ◽  
Resonance Imaging ◽  
Iodinated Contrast ◽  
Contrast Exposure ◽  
Magnetic Resonance Imaging Mri ◽  
Antiepileptic Medications ◽  
Aneurysm Repair ◽  
Supportive Management ◽  
Aortic Aneurysm Repair ◽  
The Brain

Contrast-induced encephalopathy is a rare, reversible phenomenon known to occur after intravenous or intra-arterial contrast exposure. This report describes a case involving a 73-year-old female admitted for an elective thoracic aortic aneurysm repair. During the procedure, a large volume of nonionic iodinated contrast was necessary for arteriography. Postoperatively, the patient developed seizure activity followed by left-sided hemiplegia. Computed tomography (CT) of the brain without contrast and magnetic resonance imaging (MRI) were negative for acute stroke but did show residual contrast surrounding the brain. Antiepileptic medications were administered with resolution of the seizure activity. The patient was treated with supportive management and improved to baseline over the next seven days. This case demonstrates a rare, nonionic iodinated contrast-induced encephalopathy with seizure activity and transient hemiplegia. The unique imaging findings differentiate it from other neurologic conditions.

scholarly journals Recurrent Seizure: An Uncommon Presentation of Post Thyroidectomy Hypoparathyroidism

2015 ◽  
Vol 16 (1) ◽  
pp. 56-58
Author(s):  
Abdul Wadud Chowdhury ◽  
Sabbiha Nadia Majumder ◽  
Md Gaffar Amin ◽  
Kazi Nazrul Islam ◽  
Mohammed Abaye Deen Saleh ◽  
...  
Keyword(s):  
White Matter ◽  
Basal Ganglia ◽  
Total Thyroidectomy ◽  
Subcortical White Matter ◽  
Recurrent Seizure ◽  
Lentiform Nucleus ◽  
Basal Ganglia Calcification ◽  
Uncommon Presentation ◽  
Chronic Hypoparathyroidism ◽  
Matter Detection

Basal ganglia calcification is associated with chronic hypoparathyroidism. We report a case of 37 year old lady with long standing iatrogenic hypoparathyroidism following total thyroidectomy. The clinical evaluation revealed neurological symptoms but without any neurological deficit. The CT scan of head showed calcification in caudate nucleus and part of lentiform nucleus of basal ganglia and in the cortical and subcortical white matter. Detection of brain calcinosis in patient’s who had total thyroidectomy can guide clinicians to further investigation for possible hypoparathyroidism.DOI: http://dx.doi.org/10.3329/jom.v16i1.22406 J MEDICINE 2015; 16 : 56-58

scholarly journals Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

2015 ◽  
Vol 61 (5) ◽  
pp. 407-410 ◽  
Author(s):  
Larissa Sampaio de Athayde Costa ◽  
Stephanie Pucci Pegler ◽  
Rute Facchini Lellis ◽  
Vera Lúcia Jornada Krebs ◽  
Stephen Robertson ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Neonatal Period ◽  
Correct Diagnosis ◽  
Copper Metabolism ◽  
Menkes Disease ◽  
Serum Copper ◽  
Clinical Findings ◽  
Male Fetus ◽  
Neurological Alterations ◽  
Low Levels

Summary Menkes disease is a congenital disorder caused by changes in copper metabolism derived from mutations in the ATP7A gene. It is characterized by physical and neurological alterations. In the neonatal period, these alterations can be nonspecific, which makes early diagnosis a challenge. Diagnosis can be suspected when there are low levels of ceruloplasmin and serum copper. Molecular analysis confirms the diagnosis. Treatment is parenteral administration of copper histidine. We report a familial case with molecular confirmation. The proband had clinical and biochemical suspicious. Treatment with copper histidine was indicated, but initiated at the age of 2 months and 27 days only. He did not present improvements and died at 6 months. The mother became pregnant again, a male fetus was identified and copper histidine was manufactured during pregnancy. He was born healthy, biochemical markers were reduced and treatment was indicated. Molecular analysis was performed confirming mutation in both the mother and the proband, while the other son did not have mutation, so treatment was discontinued. We support the clinical relevance of molecular confirmation for the correct diagnosis and genetic counseling, once clinical findings in the neonatal period are nonspecific and early treatment with parenteral copper histidine must be indicated.

A modified bilateral transfrontal sinus approach to the canine frontal lobe and olfactory bulb: surgical technique and five cases

2000 ◽  
Vol 36 (1) ◽  
pp. 43-50 ◽  
Author(s):  
EN Glass ◽  
A Kapatkin ◽  
C Vite ◽  
SA Steinberg
Keyword(s):  
Magnetic Resonance Imaging ◽  
Postoperative Complications ◽  
Surgical Technique ◽  
Seizure Activity ◽  
Clinical Signs ◽  
Frontal Lobes ◽  
Acute Onset ◽  
Histopathological Diagnosis ◽  
Resonance Imaging ◽  
Olfactory Bulbs

Five adult dogs presented for an acute onset of seizure activity. Magnetic resonance imaging revealed lesions in the olfactory bulbs, frontal lobes of the cerebrum, or both. A modified bilateral transfrontal sinus craniotomy was performed on each patient. The goal of removing the lesion was to relieve clinical signs and to provide tissue for histopathological diagnosis. In each instance, excision of the lesion was possible using this approach. No postoperative complications were observed. The modified bilateral transfrontal sinus craniotomy provides excellent access to the canine olfactory bulbs and frontal lobes.

Fulminant subacute sclerosing panencephalitis (SSPE) presented with acute hemiparesis in a 13-year-old girl with perinatally acquired HIV infection

2021 ◽  
Vol 14 (9) ◽  
pp. e241205
Author(s):  
Tushar Ashok Vidhale ◽  
Hemant R Gupta ◽  
Rohan Prafulla Jaya ◽  
Manas Pustake
Keyword(s):  
Hiv Infection ◽  
Subacute Sclerosing Panencephalitis ◽  
Brain Mri ◽  
Subcortical White Matter ◽  
Acute Onset ◽  
Lower Limbs ◽  
Periodic Discharges ◽  
Poor Academic Performance ◽  
The Face ◽  
Perinatally Acquired

A 13-year-old girl with perinatally acquired HIV infection was admitted to us with acute onset, right-sided hemiparesis of 30 days duration and right-sided myoclonic jerks of 2 days duration affecting the face, upper and lower limbs. On examination, she exhibited increased tone and a pyramidal pattern of weakness in her right upper and lower limbs, along with spontaneous multifocal myoclonic jerks in the affected area. IgG levels in the serum and cerebrospinal fluid for measles were significantly elevated. Brain MRI depicted T2-weighted-hyperintensities in the subcortical white matter. The electroencephalogram demonstrated evidence of lateralised long interval periodic discharges. This patient had no past behavioural problems or poor academic performance. This case underlines the fact that, though subacute sclerosing panencephalitis (SSPE) is a chronic disease, a rare fulminant form of SSPE might develop acutely and atypically, with an increased proclivity for HIV-infected patients.

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