Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease

Kaler, Stephen G.; Westman, Judith A.; Bernes, Saunder; Elsayed, Al M.; Bowe, Constance M.; Freeman, Katherine L.; Wu, C. Daniel; Wallach, Michael

doi:10.1016/s0022-3476(05)83496-1

Cited by 40 publications

(33 citation statements)

References 2 publications

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“…A solitary polypoid mass was reported in three cases of Menkes disease, all of which were found in the pyloric antrum [2,5]. Polypoid masses may develop anywhere in the gastrointestinal tract and can be revealed by endoscopy, as in our case.…”

supporting

confidence: 53%

Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy

et al. 2004

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We describe a Japanese boy with Menkes disease who developed multiple gastrointestinal polypoid masses on the palate, the posterior wall in the oral part of the pharynx, the gastric body, and pyloric antrum, during copper-histidinate therapy restoring normal serum copper levels.A Japanese boy was born as the first child of an unrelated couple after an uncomplicated pregnancy. He was vaginally delivered at 38 weeks' gestation with a birth weight of 2,520 g, a length of 48.5 cm, and a head circumference of 33.0 cm. At birth, no abnormal physical findings were recorded. He was referred to our service because of hypotonia at 7 months of age. His weight was 6,755 g (3rd percentile), length 66.1 cm (10th-25th percentile), and head circumference 43.3 cm (25th percentile). Physical examination showed bronze and steely hair and moderate hypotonia. Neither head control nor eye contact was complete. The diagnosis of Menkes disease was made based on the following findings: a serum copper level of 13 lg/dl (reference range 80-160 lg/l), coeruloplasmin 5 mg/dl (reference range 21-53 mg/dl), tortuous cerebral vessels on a brain MRI scan and a diverticulum in the bladder on ultrasonography. The

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confidence: 53%

Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy

et al. 2004

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“…9 Connective tissue abnormalities, ascribed to lysyl oxidase deficiency, also develop, including skin and joint laxity, urinary bladder diverticula, pectus excavatum, gastrointestinal polyps, and generalized vascular tortuosity. 9,11 OHS may share the connective tissue abnormalities of classic Menkes disease and features the gradual development of distinctive calcifications within the tendons that attach the sternocleidomastoid and trapezius muscles to the occiput, 4 from which the syndromic name was derived. 12,13 Because the neurologic phenotype in OHS is mild (dysautonomia including syncope, orthostatic hypotension, and chronic diarrhea), affected individuals often escape detection until mid-childhood or later.…”

Section: Menkes Disease (Online Mendelian Inheritance In Manmentioning

confidence: 99%

Functional copper transport explains neurologic sparing in Occipital Horn syndrome

Tang

Robertson

Lem

et al. 2006

Genetics in Medicine

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“…Some other clinical features are associated with deficiencies of specific copper enzymes [5]. For example, connective tissue abnormalities including skin and joint laxity, bladder diverticula, gastric polyps, vascular tortuosity, and brachial artery aneurysms are all ascribed to deficiency of the copper enzyme lysyl oxidase [6][7][8]. Lysyl oxidase normally plays a Summary Pediatric neck masses should trigger a high index of suspicion for certain genetic disorders of connective tissue.…”

Section: Introductionmentioning

confidence: 99%

Internal jugular phlebectasia in Menkes disease

Price¹,

Ravindranath²,

Kaler³

2007

International Journal of Pediatric Otorhinolaryngology

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Pediatric neck masses should trigger a high index of suspicion for certain genetic disorders of connective tissue. To highlight this, we report on three infants with Menkes disease, an inherited disorder of copper transport, who developed large, unilateral neck masses at between 7 and 17 months of age. All were identified in imaging studies as internal jugular phlebectasia. The masses, which enlarged on crying or exertion, have remained clinically benign in these patients for 20, 17, and 2 months, respectively. While arterial tortuosity and aneurysms have been reported often in Menkes disease, venous phlebectasia has rarely been described. We speculate that low activity of the copper-dependent enzyme, lysyl oxidase, leading to reduced tensile strength in the deep cervical fascia comprising the carotid sheath may predispose to internal jugular phlebectasia in these individuals. Improved survival and neurological outcomes in infants with Menkes disease due to advances in early diagnosis and treatment may be associated with recognition of novel clinical stigmata of this condition such as internal jugular phlebectasia.

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Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease

Cited by 40 publications

References 2 publications

Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy

Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy

Functional copper transport explains neurologic sparing in Occipital Horn syndrome

Internal jugular phlebectasia in Menkes disease

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