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]

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 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]

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]

“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]

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]

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]

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]

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]

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]

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]

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

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]

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

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

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]

This was followed by modified hypsarrhythmia with less polymorphic background activity in spasms and anteriorly dominant diffuse slowing with generalized and multifocal epileptiform discharges in myoclonic or generalized tonic seizures. [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]