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

Costa, Larissa Sampaio de Athayde; Pegler, Stephanie Pucci; Lellis, Rute Facchini; Krebs, Vera Lúcia Jornada; Robertson, Stephen P.; Morgan, Tim; Honjo, Rachel Sayuri; Bertola, Débora Romeo; Kim, Chong

doi:10.1590/1806-9282.61.05.407

Cited by 7 publications

(6 citation statements)

References 7 publications

(15 reference statements)

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“…The concentration of ceruloplasmin is reduced <20 mg/dL in most patients with WD because of its impaired biosynthesis and the short half-life of the copper-free molecule apoceruloplasmin. Decreased levels of serum ceruloplasmin are, however, also found in approximately 20% of heterozygous carriers, patients with liver failure, malabsorption, glycosylation disorders, Menkes disease, protein caloric malnutrition, nephrotic syndrome, protein-losing enteropathy, acquired copper deficiency, and hereditary aceruloplasminemia (40)(41)(42)(43)(44). Two main studies aimed at evaluating the diagnostic accuracy of serum ceruloplasmin for the diagnosis of WD (40,44).…”

Section: Ceruloplasminmentioning

confidence: 99%

Wilson's Disease in Children

Socha

Jańczyk

Dhawan

et al. 2018

J. pediatr. gastroenterol. nutr.

189

216

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Questions addressing the diagnosis, treatment, and follow-up of WD in children were formulated by a core group of ESPGHAN members. A systematic literature search on WD using MEDLINE, EMBASE, Cochrane Database from 1990 to 2016 was performed focusing on prospective and retrospective studies in children. Quality of evidence was assessed according to the GRADE system. Expert opinion supported recommendations where the evidence was regarded as weak. The ESPGHAN core group and ESPGHAN Hepatology Committee members voted on each recommendation, using the nominal voting technique.

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Section: Ceruloplasminmentioning

confidence: 99%

Wilson's Disease in Children

Socha

Jańczyk

Dhawan

et al. 2018

J. pediatr. gastroenterol. nutr.

189

216

View full text Add to dashboard Cite

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“…Recent reports have even demonstrated disease phenotype in carrier females (in addition to the rare occasions of sex chromosome aneuploidy or X-autosome translocation) [2]. Classic Menkes disease typically manifests at 6-8 weeks of age with progressive loss of developmental milestones, new onset of seizures, hypotonia, failure to thrive, and the concomitant onset of characteristic hair shaft anomalies (sparse, coarse, brittle, short, twisted hair with a microscopic picture of pili torti, monilethrix, and trichorrhexis nodosa) [8][9][10][11][12][13][14][15][16].…”

Section: Discussionmentioning

confidence: 99%

“…Major confounding factors include timing of replacement therapy (negligible response if treatment delayed beyond) and ease of access to copper histidine therapy (both financially and geographically). Prenatal diagnosis is of utmost importance once a proband is diagnosed, as that would aid in early identification in the following offspring [1,13].…”

Section: Discussionmentioning

confidence: 99%

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

Pawar

Mir

2022

Dubai Med J

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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.

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“…Progression of disease and fatal outcome have been reported even after the initiation of treatment. [15] Although gains of myelination and neurodevelopment have been reported with copper histidine therapy, it was not beneficial for skeletal changes. Copper histidine therapy in our patients was beneficial in improving appendicular tone, socio-cognitive milestones, and hair pigmentation and reducing the susceptibility to infection with appropriate weight gain.…”

Section: Discussionmentioning

confidence: 99%

Menkes disease and response to copper histidine: An Indian case series

Yoganathan

Sudhakar

Arunachal

et al. 2017

Ann Indian Acad Neurol

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Background:Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy. This series also includes a female with X-13 translocation manifesting neurological symptoms.Methods:The clinical profile, laboratory and radiological data, and follow-up of four children with MD were collected from the hospital database and are being presented.Results:All the four children in our series had developmental delay, recurrent respiratory tract infections, hair and skeletal changes, axial hypotonia, tortuous vessels on imaging, low serum copper, ceruloplasmin, and elevated lactate. Fetal hypokinesia and fetal growth retardation were present in two cases. Failure to thrive was present in three children and only one child had epilepsy. Subcutaneous copper histidine was administered to all children. The average time lapse in the initiation of treatment was 20.3 months, and average duration of follow-up was 14.3 months.Conclusion:We conclude that copper histidine therapy is beneficial in reversing the skin and hair changes, improving appendicular tone, socio-cognitive milestones, and improving weight gain, and immunity. Early diagnosis and management of MD are essential to have a better clinical outcome. More research is needed to explore and devise new strategies in the management of patients with MD.

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

Abstract: suMMary Study conducted at Instituto da Criança, Hospital das Clínicas,

Cited by 7 publications

References 7 publications

Wilson's Disease in Children

Wilson's Disease in Children

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

Menkes disease and response to copper histidine: An Indian case series

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