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]

• Massive Splenomegaly

  In addition, 1 boy developed a previously unreported anomaly, namely, massive splenomegaly and hypersplenism as a consequence of a splenic artery aneurysm. [ncbi.nlm.nih.gov]

• Hypothermia

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

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

  Patients with Menkes disease may also present hair changes (short, sparse, coarse, twisted hair, and colorless or steel-colored), hypothermia, hypoglycemia, hypotonia, and seizures. Onset of Menkes disease typically begins in the neonatal period. [asperbio.com]

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

• 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]

• Soft Tissue Mass

  He developed respiratory problems requiring continuous supplemental oxygen and a progressively enlarging soft tissue mass appeared on the neck. Imaging studies revealed cystic spaces in multiple lobes of the lung consistent with bullous emphysema. [ncbi.nlm.nih.gov]

• Severe Clinical Course

  Three of the 4 had male relatives with a severe clinical course compatible with classical Menkes disease. [ncbi.nlm.nih.gov]

  The clinical signs and symptoms of Menkes syndrome are a direct result of these biochemical abnormalities. Approximately 90–95% of patients with Menkes syndrome have a severe clinical course. This represents classical Menkes syndrome. [encyclopedia.com]

• Failure to Thrive

  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]

  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]

• Retinal Pigmentation

  METHODS: RT/PCR was used to test for the presence of Wilson and Menkes mRNAs in mouse and human retinas and retinal pigment epithelial cell lines. [ncbi.nlm.nih.gov]

• 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]

• Neck Mass

  Pediatric neck masses should trigger a high index of suspicion for certain genetic disorders of connective tissue. [ncbi.nlm.nih.gov]

• Frontal Bossing

  (a) Show frontal bossing, sparse wooly hypopigmented scalp hair. [annalsofian.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]

• Progressive Macrocephaly

  We present a case of Menkes disease complicated by progressive macrocephaly following the development of massive subdural haematomas. [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]

• Focal Epileptiform Discharges

  While focal epileptiform discharges predominated before six months of age modified hypsarrhythmia was characteristically noted thereafter. [ncbi.nlm.nih.gov]

• 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]

• Multifocal Spikes

  The first report of the EEG changes in MD included four patients with multifocal spike-and-wave activity15. Jayawant et al reported a rapidly progressive and unfavorable evolution with drug-resistant seizures and status epilepticus11. [scielo.br]

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

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

The prognosis in Menkes disease is dependent on early copper-histidine therapy. Effective treatment has led to children surviving into adulthood. Diagnosing the syndrome during the neonatal period is difficult. [ncbi.nlm.nih.gov]

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]

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

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]

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]

Paediatrics, Neonatology (144) Internal Medicine (135) Pathology and Forensic Medicine (128) Genetics (112) Medical Chemistry and Biochemistry (76) Infectology (73) Physiology and Pathophysiology (71) Neurology (64) Microbiology (64) Cardiology, Angiology [portal.mefanet.cz]

Pathophysiology of the transient temporal lobe lesion in a patient with Menkes disease. Pediatr Int 2008;50:825-7. [PUBMED] 15. Ekici B, Calışkan M, Tatlı B. Reversible temporal lobe edema: An early MRI finding in Menkes disease. [pediatricneurosciences.com]

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]

MNK, Menkes disease, Copper transport disease, Steely hair disease, Kinky hair disease, Menkes kinky hair syndrome Symptoms - Menkes syndrome Prevention - Menkes syndrome See a genetic counselor if you want to have children and you have a family history [checkorphan.org]