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]

• 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]

• Weight Loss

  Weight Loss Surgery Excela Health’s medical professionals understand the many complex reasons that can cause a weight problem. [excelahealth.org]

• 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]

• Hypertension

  Current opinion in nephrology and hypertension, 9(5): 541-6 [ PM ] [ EČ ][ GS ] Sirker, A.A., Rhodes, A., Grounds, R.M., Bennett, E.D. (2002) Acid-base physiology: the 'traditional' and the 'modern' approaches. [scindeks.ceon.rs]

  This surgical technique is contraindicated for bilateral IJV aneurysms because of probable intracranial hypertension related to cerebral oedema [ 33 ]. [esciencecentral.org]

  Complications The major complications in patients with untreated Wilson disease are those associated with acute liver failure, chronic hepatic dysfunction with either portal hypertension or hepatocellular carcinoma, and the sometimes-relentless course [emedicine.medscape.com]

  […] have been experiencing symptoms of the condition but have not received a diagnosis.[6] Liver disease[edit] Liver disease may present itself as tiredness, jaundice,[7] increased bleeding tendency or confusion (due to hepatic encephalopathy) and portal hypertension [en.wikipedia.org]

  Fukai, Hypertension 2008, 52, 945–951. PubMedCentral PubMed Google Scholar 138. Z. Qin, E. S. Konaniah, B. Neltner, R. A. Nemenoff, D. Y. Hui, N. L. Weintraub, J. Lipid Res. 2010, 51, 1471–1477. PubMedCentral PubMed Google Scholar 139. J. R. [doi.org]

• 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]

• Irritability

  Common symptoms of Menkes disease in infants are: Brittle, kinky, steely, sparse, or tangled hair Pudgy, rosy cheeks, sagging facial skin Feeding difficulties Irritability Lack of muscle tone, floppiness Low body temperature Intellectual disability and [medlineplus.gov]

  […] menkes-disease NIH/NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/menkes-syndrome Symptoms Common symptoms of Menkes disease in infants are: Brittle, kinky, steely, sparse, or tangled hair Pudgy, rosy cheeks, sagging facial skin Feeding difficulties Irritability [account.allinahealth.org]

  Symptoms Bone spurs Brittle, kinky hair Feeding difficulties Irritability Lack of muscle tone, floppiness ( hypotonia ) Low body temperature Mental deterioration Pudgy, rosy cheeks Seizures Skeletal changes Exams and Tests There is often a history of [indiatoday.in]

  Figure 1 It shows the phenotypic appearance of the baby – the characteristics steel fuzzy sparse hair, fair complexion, The chubby cheeks, irritable baby. [casesjournal.biomedcentral.com]

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]

Standard Therapies Treatment Early (ideally within 28 days of age of birth, corrected for prematurity) treatment of Menkes disease is essential. [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]

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]