It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme. Sanfilippo type A: A person does not have a normal working form of the enzyme called heparan N-sulfatase, Sanfilippo type B: Occurs when a person
He had a pituitary tumor removed, an operation on his knee and metal pins placed in his hips. And his jaw was split into fine pieces in order to be expanded because of the acromegaly. Doctors Notes • Swelling of right knee. • Ulcerated sores on lower left leg. • Abnormal hormone levels.
Ridgway, the middle child, whose parents were described as having frequent violent arguments, often wet the bed and fantasized over his mother, in more ways than one. Ridgway was diagnosed
It often occurs in children who have one or both parents who were also slow to develop. SYMPTOMS Children with CGD tend to be a bit short in early childhood, but they grow at a normal rate. They do not have the rapid growth spurt of adolescence when other children their age do. They continue to grow but at a slow rate. They also do not show signs of puberty until later.
“The true white horse does not exist”, almost everyone in the Equine world has heard this at one time or another. The reason that a true white horse does not exist, is because of the Overo Lethal White Syndrome or OLWS for short. Although it can be called many names, this is the most common. This syndrome affects horses of the overo gene pool. An overo is a type of white coat pattern that occurs in several breads of horses.
ACL tears, hip, and elbow dysplasia, those are some other genetic issues. They can also have and issue called Cherry eye. Cherry eye is a mass that goes above the surface of their eyeylid. Plus they have a condition were their eyelid flip inward. Last but not least they can have bone cancer.
Discussion Swenson's operation provides surgeons with a satisfactory method to treat Hirschsprung’s disease, some considered this a technically demanding surgery and the results were not quite as good in other people's hands [9]. Swenson's operation may be associated with injury of deep pelvic nerves, vessels and other structures such as vagina, prostate, vas deferens and seminal vesicles if dissection is not intimately done on the rectal wall [10]. To avoid such complications, many procedures were developed. Duhamel performed a retro rectal trans-anal pull-through to treat Hirschsprung’s disease [2]. This concept was developed to preserve the nerves to the bladder and nerve erigente and left the aganglionic rectum in place.
This condition is more common in boys than it is in girls. It occurs most often in children 3–10 years old. SYMPTOMS Your child may: Complain of pain in the hip, groin, or thigh. Walk with a limp.
Ectrodactyly/Lobster Claw Syndrome – A Congenital Deformity Babies who are born with this rare, hereditary deformity are born without the middle digit and
Alzheimer's was given its name in 1906 by a germen doctor who was the first to put a name to the disease, his name was Alois Alzheimer. Alzheimer's disease is a progressive neurodegenerative condition. It’s a disease that causes dementia, or loss of brain function like thinking and reasoning skills. It affects the parts of the brain that are important for memory and language. A person’s brain with Alzheimer's contains irregular clumps of cellular debris and protein called plaque along with collapsed microtubules.
When sexual abuse occurs children often act or behave in ways that are counterintuitive to what society believes they should behave. In 1983, Dr. Roland Summit developed the Child Sexual Abuse Accommodation Syndrome model to help others understand the many ways in which children react to sexual abuse. The model is broken down into 5 stages, the first two Secrecy and Helplessness are the preconditions to the occurrence of sexual abuse and the remaining three Entrapment and Accommodation, Delayed, Conflicted, and Unconvincing Disclosure, and the finally Retraction, are sequential contingencies which take on increasing variability and complexity (Summit, 1983). Children are more than often sexually abused by someone they know and trust.
The frequency of getting affect by Klinefelter syndrome is 1in 500 to 1,000 newborn males. Klinefelter syndrome isn’t inherited but occurs as random event during the formation of reproductive cells in a parent. SYMPTOMS AT BIRTH AND CHILDHOOD Birth: Small Penis Undescended
Brewerton, T. D., & Anderson, O. (2016). Cannabinoid hyperemesis syndrome masquerading as an eating disorder. International Journal Of Eating Disorders, 49(8), 826-829. In “Cannabinoid hyperemesis syndrome masquerading as an eating disorder”, authors Dr. Timothy D. Brewerton and Dr. Odette Anderson present the clinical case report of a twenty-two-year-old female with Cannabinoid Hyperemesis Syndrome (CHS).
INTRODUCTION Ellis–van Creveld syndrome (EVCS) also known as chondro-ectodermal dysplasia or meso-ectodermal dysplasia was initially coined by Ellis of Edinburgh and Simon van Creveld of Amsterdam in 1940. (1) It is a hereditary disorder caused by alterations in an original gene on chromosome 4p16.(2) It determines autosomal recessive inheritance and there is parentral consanguinity in 30% of the cases.(3) The occurrence of this disease in general population is moderately low. This disease is predominant in the Amish population of Pennsylvania of USA.
Shoulder Dislocation A shoulder dislocation happens when the upper arm bone (humerus) moves out of the shoulder joint. The shoulder joint is the part of the shoulder where the humerus, shoulder blade, and collar bone meet. CAUSES This condition is often caused by: A fall. A hit to the shoulder.
