We present the clinical history and CT scans of three individuals with Menkes Kinky Hair Syndrome (MKHS). Once a diagnosis was established and confirming evidence of abnormal copper metabolism was gathered, the overall clinical neurological course was comparable. However, there was significant heterogeneity in head development patterns, ranging from early and persistent microcephaly to rapid head growth and increased intracranial pressure. Similar variations in C-T scan results were seen, ranging from widespread cerebral atrophy to cystic encephalomalacia to findings consistent with massive bilateral subdural hematomas. In one example, an angiography and autopsy both reveal dramatic blood vessel anomalies with ancient infarcts and ischemic lesions. These case studies demonstrate the need of considering MKHS in young children with stunted growth, delayed development, and seizures who have additional clinical and radiological data strongly indicating abuse and neglect.
Seizures UID 20693 of MedGen â Concept ID C0036572 of C0036572 of C0036572 of C0036572 of C0036572 of C0036572 of C0036572 of C00 Manifestation or symptom A seizure is a temporary disorder of nervous system physiology defined by the emergence of signs and/or symptoms as a result of abnormally excessive or synchronized neuronal activity in the brain. Conduct a search for this feature. Observe the feature record. Intellectual handicap â Concept ID: C3714756 â MedGen UID: 811461 â Dysfunction of the Mind or Behavior Intellectual functioning that is abnormal throughout the formative stage. Intellectual impairment, formerly known as mental retardation, is defined as an IQ score of less than 70. Conduct a search for this feature. Observe the feature record.
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Menkes syndrome is an X-linked recessive disorder. This disorder is caused by a gene on the X chromosome, one of the two sex chromosomes. One mutated copy of the gene in each cell is sufficient to induce the disease in men (who have only one X chromosome). In females (who have two X chromosomes), a mutation in both copies of the gene would be required to induce the condition. Because it is improbable that females would have two mutated copies of this gene, men are afflicted significantly more often than females by X-linked recessive diseases. Fathers cannot pass on X-linked features to their sons, which is a hallmark of X-linked inheritance. Menkes syndrome is caused in about one-third of cases by novel mutations in the ATP7A gene. Individuals with a novel mutation do not have a family history of the condition.
