The isolated condition remains mainly asymptomatic, but SEIZURED may occur. The prognosis in some syndroms - for exp., DANDY - WALKER SYNDROM - is poor when associated w/ absence of Corpus Callosum; otherwise a good prognosis is expected.…
The neurological disorders that I will be discussing this week are Spina Bifida and Down Syndrome. Spina Bifida is a neurological disorder that occur while a baby is still in it’s mother’s womb. The spinal column does not fuse together all the way and the spinal chord and nerves come through the open part of the spine.…
* Chiari Malformation- In chiari malformation, part of the lower brain has slips down into the top part of the spinal canal. This causes some of the nerves to be…
Trudian Walker has worked for Publix Super Markets, Inc. for 17 years, currently holding the position of Customer Service Manager. Patient, understanding, positive attitude; these are just some of the words used to describe the great attributes that Ms. Walker has.…
Approximately 5-10% of children with Edward 's syndrome survive beyond their first year of life, requiring treatments that are appropriate for the various and chronic effects that are associated with the syndrome. Problems related to nervous system abnormalities and muscle tone affect the development of the infant 's motor skills, potentially resulting in scoliosis and crossed eyes. Forms of surgical intervention might be limited due to the child 's cardiac…
Tethered cord syndrome is a stretch-induced functional disorder associated with the fixation (tethering) effect of inelastic tissue on the caudal spinal cord, limiting its movement. This abnormal attachment is associated with progressive stretching and increased tension of the spinal cord as a child ages, potentially resulting in a variety of neurological and other symptoms. Due to the variation of the growth rate of the spinal cord and the spinal column, the progression of neurological signs and symptoms is highly variable. Some individuals present with tethered cord syndrome at birth (so-called congenital), while others develop the symptomatology in infancy or early childhood. Other individuals may not develop any noticeable symptoms until adulthood.…
The cause of agenesis of the corpus callosum is unidentifiable in many cases, but is thought to involve a vascular disruption or inflammatory lesion before 12 weeks. Certain medications such as Valproate, an epilepsy medication or drugs and alcohol are risk factors for this condition. Contracting rubella during pregnancy, chromosomal damage, and abnormalities like trisomy 21, 13, 11, 8 or 18 are also possible causes for ACC. Cysts inside the brain can prevent the development of the corpus callosum. The majority of ACC cases occur in conjunction with other brain abnormalities. The genetic disorders have a larger impact on the brain formation. Examples of these disorders are Arnold-Chiari malformation, Dandy-Walker syndrome, Schizencephaly, Holoprosencephaly, Hydrocephalus, Aicardi syndrome, Andermann syndrome, and…
When Danerro my nephew was born he could not control his body movement. They cannot walk or even control the movements of their hands or their heads. As a result, they remain physically helpless for a…
It is caused by the presence of the homozygous recessive gene on chromosome 15 that codes for the production of hexosaminidase-A (Hex-A). Since the body has no HexA, a fatty substance is allowed build up abnormally in nerve cells, which eventually damages the cells and the brain. When a child is two years old, they will suffer seizures and degrading mental function. Their mental abilities continue to worsen to a point of paralyses and blindness, and death comes around age five.…
Several years ago Pervasive Developmental Disorder (PDD) is a group of conditions that involve delays in the development of many basic skills that vary in severity, communication delay and repetitive behaviors such as: Autistic Disorder, Asperger Disorder, Rett’s Disorder, Childhood Disintegrative Disorder and Pervasive Developmental Disorder-not otherwise Specified. Now more commonly known as Autism Spectrum Disorders (ASD).…
Ashley’s mental and motor abilities were not developing normally which had been noticed by her parents within a month of her uncomplicated birth1. Ashley’s parents consulted neurology, medical genetics, and developmental pediatrics but they failed to uncover a specific cause for her symptoms even after extensive subsequent evaluation1. They diagnosed it as brain impairment with marked developmental deficiencies of unknown…
Angelman syndrome (AS) is a neurodevelopment disorder can be caused by genetics. AS causes cognitive disability, motor dysfunction, speech impairment, hyperactive, short attention span, and frequent seizure. AS is mostly common for children when they are 1-3 years old or even possibly when they are 3-12 months old. Children usually have frequent seizures when they are younger.…
I have always longed to help people. Even as a child, I enjoyed bandaging up my little sisters, playing doctor with my incredibly patient dog and even being there for my friends when they needed someone the most. Knowing what I know now, my passion for helping people would fuel the hardships that would come my way in the distant future.…
DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted, causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth, presence of "cleft" palate (opening in the roof of the mouth), learning disorders, autoimmune diseases (such as rheumatoid arthritis), hypocalcaemia (low presence of calcium in blood), speech disabilities, and sometimes growth disorders. This syndrome is not explicitly fatal, but cardiac disorders caused by the DiGeorge syndrome are its greatest cause of mortality. Diseases contracted from severe immunity deficiency can also lead to death. It has…
J. D. is a 3 yr old boy with West Syndrome, absence of the corpus callosum, and developmentally delayed with controlled spasms since 10/2012 until recently when J.D. presented to Miller Children’s emergency department with several episodes of spasm-like activity and vomiting up his keppra. Mom describes the episodes a 5-10 seconds in duration, with upward and outward jerking of his arms.…