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

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.

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

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.

Connective Tissue Abnormalities in Patients with Ruptured Intracranial Aneurysms and No Known Systemic Connective Tissue Disorder

2020 ◽  
Vol 141 ◽  
pp. e829-e835
Author(s):  
Sripartha Krishna Yerramilli ◽  
Praneeth Kokula ◽  
Sunil K. Gupta ◽  
Bishan D. Radotra ◽  
Ashish Aggarwal ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Intracranial Aneurysms ◽  
Connective Tissue Disorder ◽  
Tissue Abnormalities ◽  
Ruptured Intracranial Aneurysms

Fatal Exsanguination Following Rupture of an Iliac Artery Aneurysm in an Infant With Menkes Disease

2019 ◽  
Vol 22 (5) ◽  
pp. 486-491
Author(s):  
Rachel Ng ◽  
Dilharan Eliezer ◽  
Ricardo Vilain ◽  
Benjamin Kamien ◽  
Aniruddh V Deshpande
Keyword(s):  
Genetic Testing ◽  
Child Health ◽  
Connective Tissue ◽  
Iliac Artery ◽  
Artery Aneurysm ◽  
Menkes Disease ◽  
Male Infant ◽  
Neurological Complications ◽  
Iliac Artery Aneurysm ◽  
Nonaccidental Injury

Menkes disease (MD) usually presents in infancy with respiratory and neurological complications. Severe isolated vasculo-connective tissue involvement in infancy is rare, and hence the precise and timely diagnosis is difficult. We report a case of an 8-week-old male infant who succumbed to acute, severe exsanguination, and hemorrhagic shock secondary to a large retroperitoneal hematoma due to rupture of a right iliac artery aneurysm. Perimortem musculoskeletal findings raised suspicion of nonaccidental injury. However, postmortem review of facial traits raised the suspicion of MD. MD was subsequently confirmed on genetic testing. Child health clinicians must remain aware of MD as a rare cause of infant vasculopathy or atypical skeletal abnormalities.

Mendelian Inheritance Of Elevated Tryptase Associated With Atopy and Connective Tissue Abnormalities

2014 ◽  
Vol 133 (2) ◽  
pp. AB165
Author(s):  
Jonathan J. Lyons ◽  
Guangping Sun ◽  
Kelly D. Stone ◽  
Celeste Nelson ◽  
Laura Wisch ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Mendelian Inheritance ◽  
Tissue Abnormalities

Ultrastructural connective tissue abnormalities in patients with spontaneous cervicocerebral artery dissections

1998 ◽  
Vol 44 (2) ◽  
pp. 281-285 ◽  
Author(s):  
Tobias Brandt ◽  
Ingrid Hausser ◽  
Erdem Orberk ◽  
Armin Grau ◽  
Wolfgang Hartschuh ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Tissue Abnormalities

Pathogenesis of cervical artery dissections: Association with connective tissue abnormalities

Neurology ◽  
2001 ◽  
Vol 57 (1) ◽  
pp. 24-30 ◽  
Author(s):  
T. Brandt ◽  
E. Orberk ◽  
R. Weber ◽  
I. Werner ◽  
O. Busse ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Cervical Artery ◽  
Tissue Abnormalities
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