Menkes Disease after Copper Histidine Replacement Therapy: Case Report

2001 ◽  
Vol 4 (3) ◽  
pp. 281-288 ◽  
Author(s):  
David H. George ◽  
Robin E. Casey
Keyword(s):  
Connective Tissue ◽  
Copper Metabolism ◽  
Menkes Disease ◽  
Differential Sensitivity ◽  
Multiple Systems ◽  
Bladder Diverticula ◽  
Significant Pathology ◽  
The Central Nervous System ◽  
Tissue Abnormalities ◽  
Pathological Report

Menkes disease (MD) is an X-linked recessive disorder of copper metabolism, characterized in its untreated state by progressive disorders of multiple systems, especially the central nervous system (CNS) and connective tissue, and death by 3 years of age. Recently, therapy with copper-histidine has modified the severity of MD and permitted survival into adolescence. Clinical response has been greater for the neurological abnormalities than for the connective tissue abnormalities. In this report, we describe the postmortem pathology of one individual who had received copper-histidine therapy and died at age 10; we believe this to be the first such pathological report. The postmortem examination demonstrated significant pathology of mesenchymal tissues, including skeletal abnormalities, vascular degeneration, and bladder diverticula. The CNS, by contrast, showed minimal pathology. The phenotype was more consistent with occipital horn syndrome, a milder allelic disorder of copper metabolism, than with classic MD. The differential sensitivity of CNS and mesenchymal tissues to copper-histidine therapy may result from heterogeneity in the response of different copper-dependent enzymes.

Biochemical indicator for evaluation of connective tissue abnormalities in Menkes' disease

2003 ◽  
Vol 142 (6) ◽  
pp. 726-728 ◽  
Author(s):  
Hiroko Kodama ◽  
Emi Sato ◽  
Yukisige Yanagawa ◽  
Hiroshi Ozawa ◽  
Takamitsu Kozuma
Keyword(s):  
Connective Tissue ◽  
Menkes Disease ◽  
Biochemical Indicator ◽  
Tissue Abnormalities

CONGENITAL CUTIS LAXA: A RARE GENODERMATOSIS

2021 ◽  
pp. 20-21
Author(s):  
Vinaya Ajaykumar Singh ◽  
Mazhar Khan ◽  
Poonam Wade ◽  
Navina Desai ◽  
Sushma Malik
Keyword(s):  
Metabolic Disorders ◽  
Skin Diseases ◽  
Febrile Illness ◽  
Menkes Disease ◽  
Female Child ◽  
Severe Form ◽  
Cutis Laxa ◽  
Facial Features ◽  
Elastic Tissue ◽  
Tissue Abnormalities

Cutis Laxa (CL) / generalized elastolysis / dermatomegaly is a heterogeneous group of disorders which are related to elastic tissue abnormalities. Depending on extent of abnormal elastic tissue, it may be mild or severe. Severe form presents with loose, inelastic, wrinkled skin resembling ill tted suit. Infant has characteristic facial features like old man appearance, a hooked nose, a short columella, a long upper lip with long philtrum, and everted lower eyelids. CL is categorised as congenital or acquired and the inheritance can be autosomal dominant or recessive, or X linked. Occasionally a few metabolic disorders like Menkes disease, disorders of glycosylation are associated with Congenital CL. Acquired cutis laxa has developed after a febrile illness and various inammatory skin diseases. Here we present a case of a full-term SGA (small for gestational age) female child born with features of CL.

scholarly journals Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

2018 ◽  
Vol 103 (2) ◽  
pp. 288-295 ◽  
Author(s):  
Eveline Boudin ◽  
Tjeerd R. de Jong ◽  
Tim C.R. Prickett ◽  
Bruno Lapauw ◽  
Kaatje Toye ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Allelic Loss ◽  
Loss Of Function ◽  
Tissue Abnormalities

scholarly journals Autonomous requirements of the Menkes disease protein in the nervous system

2015 ◽  
Vol 309 (10) ◽  
pp. C660-C668 ◽  
Author(s):  
Victoria L. Hodgkinson ◽  
Sha Zhu ◽  
Yanfang Wang ◽  
Erik Ladomersky ◽  
Karen Nickelson ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Copper Deficiency ◽  
Copper Homeostasis ◽  
Signs And Symptoms ◽  
Menkes Disease ◽  
Copper Transporter ◽  
Sensorimotor Deficits ◽  
The Central Nervous System

Menkes disease is a fatal neurodegenerative disorder arising from a systemic copper deficiency caused by loss-of-function mutations in a ubiquitously expressed copper transporter, ATP7A. Although this disorder reveals an essential role for copper in the developing human nervous system, the role of ATP7A in the pathogenesis of signs and symptoms in affected patients, including severe mental retardation, ataxia, and excitotoxic seizures, remains unknown. To directly examine the role of ATP7A within the central nervous system, we generated Atp7a Nes mice, in which the Atp7a gene was specifically deleted within neural and glial cell precursors without impairing systemic copper homeostasis, and compared these mice with the mottled brindle ( mo-br) mutant, a murine model of Menkes disease in which Atp7a is defective in all cells. Whereas mo-br mice displayed neurodegeneration, demyelination, and 100% mortality prior to weaning, the Atp7a Nes mice showed none of these phenotypes, exhibiting only mild sensorimotor deficits, increased anxiety, and susceptibility to NMDA-induced seizure. Our results indicate that the pathophysiology of severe neurological signs and symptoms in Menkes disease is the result of copper deficiency within the central nervous system secondary to impaired systemic copper homeostasis and does not arise from an intrinsic lack of ATP7A within the developing brain. Furthermore, the sensorimotor deficits, hypophagia, anxiety, and sensitivity to NMDA-induced seizure in the Atp7a Nes mice reveal unique autonomous requirements for ATP7A in the nervous system. Taken together, these data reveal essential roles for copper acquisition in the central nervous system in early development and suggest novel therapeutic approaches in affected patients.

Excision of massive bladder diverticula in Menkes disease

2010 ◽  
Vol 6 (3) ◽  
pp. 312-314 ◽  
Author(s):  
Balgopal Eradi ◽  
Ashok Rajimwale
Keyword(s):  
Menkes Disease ◽  
Bladder Diverticula

Immune and Infectious Diseases

2018 ◽  
pp. 430-470
Author(s):  
Andrea C. Adams
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Young People ◽  
Connective Tissue ◽  
Infectious Diseases ◽  
Temporal Profile ◽  
Immune Mediated ◽  
The Central Nervous System ◽  
The Common

Many immune-mediated diseases and infections affect the central and peripheral nervous systems. The common feature that characterizes both immune-mediated diseases and infections is a subacute temporal profile. Immune-mediated disease can affect only the nervous system or involve the nervous system as part of a systemic illness, as in vasculitis and connective tissue disease. Multiple sclerosis (MS), the most common disabling neurologic illness of young people, is the prototypical immune-mediated disease of the central nervous system (CNS).

Recurrence of cervical artery dissection

Neurology ◽  
2018 ◽  
Vol 90 (16) ◽  
pp. e1372-e1378 ◽  
Author(s):  
Manja Kloss ◽  
Caspar Grond-Ginsbach ◽  
Peter Ringleb ◽  
Ingrid Hausser ◽  
Werner Hacke ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Recurrent Events ◽  
Clinical Symptoms ◽  
Artery Dissection ◽  
Cervical Artery Dissection ◽  
Consecutive Series ◽  
Initial Event ◽  
Cervical Artery ◽  
Tissue Abnormalities

ObjectiveTo explore the recurrence of cervical artery dissection (CeAD).MethodsA single-center consecutive series of 282 CeAD patients was prospectively recruited during first admission from 1995 to 2012. Patients with a follow-up of at least 1 year (n = 238) were eligible for the current analysis. All patients with clinical symptoms or signs of recurrent CeAD on ultrasound were examined by MRI. Dermal connective tissue morphology was studied in 108 (45.4%) patients.ResultsMedian follow-up was 52 months (range 12–204 months). In all, 221 (92.8%) patients presented with monophasic CeAD, including 188 (79.0%) patients with a single CeAD event, 11 (4.6%) with simultaneous dissections in multiple cervical arteries, and 22 (9.2%) with subsequent events within a single phase of 4 weeks. Seventeen patients (7.1%) had late (>1 month after the initial event) recurrent CeAD events, including 5 (2.1%) with multiple recurrences. Patients with late recurrences were younger (37.5 ± 6.9 years) than those without (43.8 ± 9.9; p = 0.011). Ischemic stroke occurred in 164 (68.9%) patients at first diagnosis, but only 4 of 46 (8.7%) subsequent events caused stroke (p < 0.0001), while 19 (41.3%) were asymptomatic. Connective tissue abnormalities were found in 54 (56.3%) patients with monophasic and 8 (66.7%) with late recurrent dissections (p = 0.494).ConclusionTwenty-two (9.2%) patients had new CeAD events within 1 month and 17 (7.1%) later recurrences. The risk for new events was significantly higher (about 60-fold) during the acute phase than during later follow-up. Connective tissue abnormalities were not more frequent in patients with late recurrent events than in those with monophasic CeAD.

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