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

• 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]

  In the early neonatal period, patients may present with prolonged jaundice, hypothermia, hypoglycemia and feeding difficulties. Pectus excavatum and umbilical and inguinal hernias have also been reported. [orpha.net]

  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]

• 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]

• Pediatric Disease

  “Menkes disease is a rare and fatal pediatric disease, and patients with classic Menkes disease currently have no approved therapeutic options. [checkrare.com]

  Cyprium, NICHD establish CRADA to advance clinical development of Phase 3 candidate CUTX-101 (Copper Histidinate injection) in Menkes disease, a rare and fatal pediatric disease Cyprium licenses preclinical AAV-ATP7A gene therapy from NICHD to develop [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]

• 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]

• 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]

  The Menkes protein is also in retinal pigment epithelial cells and the neurosensory retina. [1] Hardman et al found that insulin and estrogen increased the level of MNK mRNA and protein levels in the placenta. [2] The MNK protein also became localized [emedicine.com]

• 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]

  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]

  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]

  […] 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]

• 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]

  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]

  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]

  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]

• 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]

• 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]

• Focal Seizure

  Early presentations typically involve focal seizures, with progression to epileptic spasms and a chronic late stage of epilepsy characterized by tonic seizures, myoclonic jerks, and multifocal epileptiform activity on the EEG. [ncbi.nlm.nih.gov]

  For example, epilepsy typically shows a 3-stage course: 1) focal seizures progressing to status epilepticus ( 3 months), 2) epileptic spasms (6–11 months), and 3) multifocal seizures, tonic spasms, and myoclonus (20–25 months).4 The scarce neuropathologic [ajnr.org]

• 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]

• Estrogen Increased

  The Menkes protein is also in retinal pigment epithelial cells and the neurosensory retina. [1] Hardman et al found that insulin and estrogen increased the level of MNK mRNA and protein levels in the placenta. [2] The MNK protein also became localized [emedicine.com]

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

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

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]

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

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]

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]

Pathophysiology Copper is a trace metal in many essential enzyme systems, including cytochrome C oxidase, superoxide dismutase, lysyl oxidase, tyrosinase, ascorbic acid oxidase, ceruloplasmin, and dopamine beta hydroxylase. [emedicine.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]

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]