There are no published reports of congenital skull fracture as a presenting sign of Menkes disease. [ncbi.nlm.nih.gov]

Here, we report on a patient affected with both disorders and review the diagnostic and therapeutic difficulties this presented. [onlinelibrary.wiley.com]

• Hypothermia

  Menkes syndrome should be considered in any male infant with unexplained seizures, hypothermia, and mental retardation. [accessanesthesiology.mhmedical.com]

  Cardinal features include hair abnormalities, facial dysmorphism, severe neurological impairment, hypothermia, arterial anomalies, bone abnormalities and a fatal outcome. [ncbi.nlm.nih.gov]

  Affected infants are often born prematurely and may have non-specific symptoms such as hypothermia, hypoglycemia, and prolonged jaundice. [rarediseases.org]

  The parents mentioned that she had constipation and episodes of hypothermia. [hindawi.com]

  Gupta First published July 8, 2013, DOI: https://doi.org/10.1212/WNL.0b013e31829a334c Six-month-old twins, born to a consanguineous couple, presented with hypotonia, hypothermia, seizures, and developmental delay. [n.neurology.org]

• Epilepsy

  Epilepsy is a major clinical feature of this disorder. We describe the clinical presentation, evolution of epilepsy and explore the biological underpinnings of epileptogenesis in Menkes disease. [ncbi.nlm.nih.gov]

  syndromic hair shaft abnormality, eyebrow/eyelashes structural anomaly, epidermal disease, metal transport or utilization disorder with epilepsy Normdatei Q639203 Reasonator Scholia Statistik [commons.wikimedia.org]

• Falling

  Head control may be poor or absent in the floppy infant with the head falling to the side, backward or forward. Causes Menkes disease is caused by a defect in the ATP7A gene. [mountsinai.org]

  Brockley SE4 ; A friend told me recently that the great Pan-Africanist Marcus Garvey (1887-1940) once lived in Borough High Street, which sent me scurrying to the library to find out moreAccording to Colin Grant's biography, 'Negro with a Hat: the rise and fall [ask21241.myiplist.com]

  Falling concrete is going to kill someone. Last edited: Jun 25, 2013 #1,311 I basically have the same position as SP!RE. In general I'm against layering because it tends to create dead streetscapes and block views. [urbantoronto.ca]

  Morphologische und biochemische Untersuchungen über einen Fall von juveniler amaurotischer Idiotie (neuronale Ceroid-Lipofuszinosis). In: H. Bredt u. G. Seifert (ed.): Aktuelle Probleme der Kinderpathologie, S. 427–432. Stuttgart: G. [link.springer.com]

• Short Stature

  stature, and intellectual disabilities) 759.89 Rud's (mental deficiency, epilepsy, and infantilism) 759.89 Russell (-Silver) (congenital hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature [icd9data.com]

  Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. [uniprot.org]

  stature (achondroplasia, Jeune, multiple exostoses, hormonal short stature, other forms) Dysautonomia Dystonia Ectodermal dysplasia Ehlers Danlos syndrome (& cutis laxa) Endocrine Conditions (adrenal, androgen, diabetes, thyroid, ovaries, other) Epidermolysis [kumc.edu]

  stature Decreased body height Small stature [ more ] 0004322 X-linked recessive inheritance 0001419 Showing of 65 | Last updated: 3/1/2020 The early diagnosis is suspected with the signs and symptoms (especially typical hair changes) and reduced levels [rarediseases.info.nih.gov]

• Pediatric Disease

  About Menkes Disease and Related Copper Metabolism Disorders Menkes disease is a rare X-linked pediatric disease caused by gene mutations of copper transporter ATP7A, which affects approximately one in 100,000 newborns per year. [globenewswire.com]

• Failure to Thrive

  Physical findings: • Characteristic brittle, colorless hair that breaks easily; • Poor growth/failure to thrive; • Hypotonia (floppy muscle tone); • Skeletal deformities and weak bones (osteoporosis); and • Global developmental delays. [secure.ssa.gov]

  Then symptoms begin, including floppy muscle tone, seizures, and failure to thrive. Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steel-colored, and breaks easily. [ninds.nih.gov]

  Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early childhood. Here, we report a case of Menkes disease presented by intractable seizures and infantile spasms. [ncbi.nlm.nih.gov]

• Visual Impairment

  impairment / blind Von Hippel-Lindau syndrome Waardenburg syndrome Weaver syndrome Werner syndrome Williams syndrome Wilson disease (hepatolenticular degeneration) Xeroderma pigmentosum Zellweger syndrome Unknown conditions Other information: Adoption [kumc.edu]

• Fracture

  There are no published reports of congenital skull fracture as a presenting sign of Menkes disease. [ncbi.nlm.nih.gov]

• Cutis Laxa

  […] recessive 1B EFEMP2 Del Dup NGS Cutis laxa, autosomal recessive IC LTBP4 Del Dup NGS Cutis laxa, autosomal recessive IIA ATP6V0A2 Del Dup NGS Cutis laxa, autosomal recessive IIIA ALDH18A1 Del Dup NGS Cutis laxa, autosomal recessive, type IIB & type IIIB [ctgt.net]

  There are three distinct clinical phenotypes, the severe classical MD, mild MD and occipital horn syndrome (OHS, also known as X-linked cutis laxa or Ehlers-Danlos type IX). [link.springer.com]

  The relationship between Menkes' syndrome and the other copper-related syndromes (X-linked cutis laxa, occipital horn syndrome, and Ehlers-Danlos syndrome type 1X) is also described. © Williams & Wilkins 1994. All Rights Reserved. [journals.lww.com]

  Yes, Occipital Horn syndrome, which is also known as X-linked cutis laxa or Ehlers-Danlas type 9. 5. What is the prognosis for Menkes disease? Very poor, it is a terminal disease with most babies passing within the first decade of their lives. 6. [themenkesfoundation.org]

  Differential diagnosis Differential diagnosis includes Ehlers-Danlos syndrome, Marfan syndrome, cutis laxa, mitochondrial disorders, osteogenesis imperfecta (see these terms) and child abuse. [orpha.net]

• Alopecia

  Required Differential Diagnosis & Pitfalls Other disorders associated with pili torti : Bjornstad syndrome Crandall syndrome Mitochondrial disorders Netherton syndrome Bazex-Dupré-Christol syndrome Citrullinemia Laron syndrome Child abuse (eg, traumatic alopecia [visualdx.com]

  Win32 Error Code = 87 Aarskog syndrome Achondroplasia Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome Alagille syndrome Albinism (& (hypopigmentation) Alopecia [kumc.edu]

  Diagnosis of Menkes disease was rapidly considered because the child had white fine brittle hair, a partial alopecia, an hypopigmentation and a skin xerosis, an hypothermia and several neurological abnormalities: slow psychomotor development, generalized [esciencecentral.org]

  […] glomerulonephritis, type 3 Holoacardius Holoacardius acephalus Holoacardius acormus Holoacardius amorphus Holt-Oram syndrome Homologous chimera Hyperhidrosis, premature cavities and premolar aplasia Hyperthermia-induced defect Hypogonadism, diabetes mellitus, alopecia [icd9data.com]

• Pudgy Cheeks

  An odd appearance, with pale skin, frontal or occipital bossing, micrognathia and pudgy cheeks may be observed. Patients develop gradual motor dysfunction and seizures. [orpha.net]

  Typical facies consist of frontal or occipital bossing, abnormal or absent eyebrows, pudgy cheeks with sagging jowls, micrognathia, and pallor. [accessanesthesiology.mhmedical.com]

  The face may look a little different and have pale skin, small chin, pudgy cheeks, and a large forehead. [my46.org]

• Psychomotor Retardation

  Kinky-hair syndrome, a progressive neurodegenerative disorder which affects infant males and is characterized by unusual hair, seizures, psychomotor retardation, growth failure, and early death, was first described by Menkes et al. 1 Since the original [jamanetwork.com]

  Patients are normal in the first 2 or 3 months of life but then they develop failure to thrive, hypothermia, hypotonia, seizures, severe psychomotor retardation, and usually die before 2 years of age. [neuropathology-web.org]

  These patients can present with failure to thrive, severe psychomotor retardation, seizures and hypopigmented hair, which is characteristic of this condition. A number of neuro-radiological findings have been reported in this condition. [pediatricneurosciences.com]

  At the time of examination, he presented psychomotor retardation, hair changes (scarce, thin, coarse), severe head lag and inability to sit independently. [bmcpediatr.biomedcentral.com]

• Seizure

  Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early childhood. Here, we report a case of Menkes disease presented by intractable seizures and infantile spasms. [ncbi.nlm.nih.gov]

Physicians should use microscopic evaluation of the hair more often when suspicion of Menkes disease is raised, aiming a narrow further diagnostic workup and early positive diagnosis and genetic advice for the affected families. [ncbi.nlm.nih.gov]

(See Etiology, Presentation, and Workup .) Although it is extremely rare in clinical practice, Wilson disease is important because it is often fatal if not recognized and treated when symptomatic. [emedicine.medscape.com]

• Generalized Polyspikes

  EEG showed gross generalized polyspike waves. Opthalmoscopic examination showed pale optic disc. Microscopic examination of hair revealed classical sign of pili torti (Figure 4 ). [casesjournal.biomedcentral.com]

The degree of CuHis treatment efficacy in older, symptomatic Menkes disease patients is less clear. [rarediseases.org]

[…] duration of treatment. [ncbi.nlm.nih.gov]

Treatment[edit] There is no cure for Menkes disease. Early treatment with injections of copper supplements (acetate or glycinate) may be of some slight benefit. [en.wikipedia.org]

The prognosis for babies with Menkes disease is poor. [ninds.nih.gov]

The prognosis for infantile onset MNK is poor, with most children dying by age 3. TREATMENT Treatment of Menkes disease is symptomatic and supportive. Early treatment with copper may improve the prognosis in some affected individuals. [secure.ssa.gov]

The prognosis for babies with Menkes disease is poor. Most children with Menkes disease die within the first decade of life. [childneurologyfoundation.org]

Prognosis Prognosis is poor and patients usually die in early childhood. However, careful medical care, and possibly copper administration, may extend life span. The documents contained in this web site are presented for information purposes only. [orpha.net]

Treatment and prognosis It is lethal and the affected males typically die by the time they are aged 2-3 years. A pneumonia or respiratory infection is the usual cause of death. Treatment is mainly supportive. [radiopaedia.org]

Probable or plausible explanatory etiology 5. [imedpub.com]

Etiology MD is caused by mutations in the ATP7A gene (Xq21.1) encoding a copper-transport protein, Cu2+-transporting ATPase-alpha polypeptide. To date, about 200 different mutations in this gene have been reported. [orpha.net]

Abstract Redox active transition metal ions (e.g., iron and copper) have been implicated in the etiology of many oxidative stress-related diseases including also neurodegenerative disorders. [ncbi.nlm.nih.gov]

Summary Epidemiology Prevalence data are not available. The birth incidence is 1/300,000 in Europe and 1/360,000 in Japan. In Australia, the birth incidence is reported to be much higher (1/50,000-100,000), which may be due to a founder effect. [orpha.net]

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Menkes disease is due to a dysfunction of ATP7A, but the pathophysiology of neurologic manifestation is poorly understood during embryonic development. [ncbi.nlm.nih.gov]

The kidney: Physiology and pathophysiology, New York: Ravan Press, 1491-1525 [ PM ] [ EČ ][ GS ] Kraut, J.A., Madias, N.E. (2010) Metabolic acidosis: pathophysiology, diagnosis and management. Nature reviews. [scindeks.ceon.rs]

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Prevention There is no known way to prevent Menkes syndrome. If you have a family history of the disorder, you can talk to a genetic counselor when deciding whether to have children. [winchesterhospital.org]

Prevention There is no known way to prevent Menkes syndrome. If you have a family history of the disorder, you can talk to a genetic counselor when deciding whether to have children. References ATP7A-Related Copper Transport Disorders. [wkhs.com]

In MD patients, an early copper-histidine treatment may prevent the neurological impairment and prolong survival leading to an OHS phenotype. [ncbi.nlm.nih.gov]

How can Menkes disease be prevented? Menkes disease cannot be prevented. [clinicaladvisor.com]