1 / 13

MICROCEPHALY

MICROCEPHALY. By: Jack Szymanski. What is it?. Microcephaly is a neurodevelopment disorder where an infant’s head does not develop normally and remains abnormally small when compared to the heads of others the same age and sex. Confusion?.

aric
Télécharger la présentation

MICROCEPHALY

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. MICROCEPHALY By: Jack Szymanski

  2. What is it? • Microcephaly is a neurodevelopment disorder where an infant’s head does not develop normally and remains abnormally small when compared to the heads of others the same age and sex.

  3. Confusion? • Microcephaly means “small head.” It is very similar to and should not be confused with the word microencephaly, which means “small brain.” The skull size (and thus head size) is determined by brain size, therefore a person with microcephaly is guaranteed to have microencephaly as well.

  4. A little history • Microcephaly was first noticed in children of pregnant Japanese women who survived the atomic bombings of Hiroshima and Nagasaki. The radiation mutated the children. • Currently there is a heavy presence of microcephalic children in Amish country in Philadelphia.

  5. Causes • Microcephaly is the result of a mutation on one of the six microcephalin genes. The most common being the MCPH1gene. • Each gene corresponds to one of the three common types of microcephaly: • Autosomal Dominant • Autosomal Recessive (most common) • X-Linked N terminal of BRCT of MCPH1

  6. Causes • There are two forms of microcephaly. They are determined by when the mutation occurs. If it is in the womb it is congenital onset microcephaly. If it occurs after birth it is postnatal onset microcephaly. • Microcephaly can either be inherited from parents that carry the mutated gene or can occur randomly due to a plethora of disorders and environmental conditions.

  7. Causal Conditions- Congenital Onset • Down syndrome • Edward Syndrome • Patau Syndrome • 4p deletion (Wolf–Hirschhorn syndrome) • 5p deletion (Cri-du-chat) • 7q11.23 deletion (Williams syndrome) • 22q11 deletion (DiGeorge syndrome) • Smith–Lemli–Opitz syndrome • Seckel syndrome • Cornelia de Lange syndrome • Holoprosencephaly • Ischemic stroke • Hemorrhagic stroke • Death of a monozygotic twin • Congenital cytomegalovirus infection • Toxoplasmosis • Congenital rubella syndrome • Fetal hydantoin syndrome • Fetal alcohol syndrome • Radiation exposure to mother • Maternal Malnutrition • Maternal Phenylketonuria • Poorly controlled Gestational diabetes • Hyperthermia • Maternal Hypothyroidism • Placental insufficiency

  8. Causal Conditions- Postnatal Onset • Congenital disorder of glycosylation • Mitochondrial disorders • Peroxisomal disorder • Glucose transporter defect • Menkes disease • Amino acidopathies • Organic acidemia • 17p13.3 deletion (Miller–Dieker syndrome) • Rett syndrome • Nijmegen breakage syndrome • X-linked lissencephaly with abnormal genitalia • Aicardi–Goutières syndrome • Ataxia telangiectasia • Cohen syndrome • Cockayne syndrome • Traumatic brain injury • Hypoxic-ischemic encephalopathy • Ischemic stroke • Hemorrhagic stroke • Congenital HIV encephalopathy • Meningitis • Encephalitis • Lead poisoning • Chronic renal failure • Hypothyroidism • Anemia • Congenital heart disease • Malnutrition

  9. Symptoms • Microcephaly results in an abnormally small head size. With this comes multiple symptoms: • Dwarfism • Delayed motor and speech functions • Mental retardation • Facial distortions • Seizures • Hyperactivity • Balance and coordination problems • Shortened life span • Limited mental capacity • Some people with microcephaly have grow up to have normal intelligence.

  10. Cure • There is no cure for microcephaly. It is impossible without the technology to stimulate nerve cell growth, which has yet to be developed. • Current treatment focuses on mitigating the effects of the symptoms of microcephaly. • If caught early on, speech therapy and physical therapy may be able to mitigate the effects of motor and speech dysfunction that is sure to ensue. • Medicine to treat hyperactivity has been developed. • Scientists have recently discovered that amino acid therapy can significantly reduce the occurrence of seizures.

  11. Bibliography • http://www.ninds.nih.gov/disorders/microcephaly/microcephaly.htm • http://www.mayoclinic.com/health/microcephaly/DS01169 • http://www.medicinenet.com/microcephaly/page3.htm • http://en.wikipedia.org/wiki/Microcephalin • http://en.wikipedia.org/wiki/Microcephaly • http://www.nlm.nih.gov/medlineplus/ency/article/003272.htm

More Related