Neeimann-Pick Disease Case Studies

Cherry red spot” in the eyes Infant with Tay Sachs Disease If two parents are carriers for

We can diagnose through therapy showing evidence of limitation or with lab tests that use direct sequencing on the CHN1 gene to look for mutations. The syndrome can be aided with therapy and surgery although no surgery has been proven to completely eliminate the symptoms of the syndrome but they do help. Boston’s Children Hospital is researching to more understand the genetics behind Duane’s Syndrome that includes radial ray anomalies. They have traced it back to Chromosome 20 and even identified it, they identified it as SALL4(Duane Syndrome Pediatric Research and Clinical Trials). This can help the way we diagnose, treat and maybe even prevent it in the

difficult to work with because each case is different, and the course of this disease is

The treatment depends on their specific symptoms. If an individual’s heart is affected, then they would be treated just like any other individual with a heart condition. If they have growing problems it is most likely due to the fact that they don’t have enough hormones. If that is the case, then the individual would be given growing hormones as a treatment. Early development disabilities are dealt with during therapy when the right equipment is present. If the individual had bleeding problems, then the treatment all depends on their

DiGeorge Syndrome is also known as Velo-Cardio-Facial Syndrome and can affect many parts of the body. This occurs when small pieces of chromosome 22 is missing, resulting in the loss of many important genes. Generally, children with DiGeorge Syndrome have decreased levels of calcium in their bodies, resulting in seizures. These children also typically have underdeveloped, cystic or missing kidneys, compromising the body’s ability to filter waste materials in the blood to make urine. To add, partial immunodeficiency is a common trait of people with DiGeorge Syndrome. This means that these people’s immune systems are not as strong as they should be, making it harder for them to fight infections and disease, resulting in increased illness rates and difficult recoveries from illnesses. As this syndrome affects many parts of the body, heart defects, low platelet counts, difficulty with speech and language, learning difficulties and behavioural disorders are also fairly common in children with DiGeorge disorder. Overall, DiGeorge syndrome has many diverse effects on the human body and is detrimental to the overall wellbeing of those who must live with it.

Ben is an 8 year old boy with a rare disease called canavan disease. Canavan disease is a non well known disease mainly incorporated in AshKenazi Jews. The disease affects the neurons in the brain causing the brain to develop oddly. Common symptoms of the disease are abnormally large skull, unable to develop proper motor skills and weak muscle tone growth. Ben’s parents have had trouble procreating in the past but Ben was a whole new catastrophe. When ben was born in January of 2003 he was not diagnosed with the disease until a whole 8 months of being alive. Ben’s parents immediately knew their son had something wrong with him due to his unable to stay calm without food, uncontrollable crying, and inability to sleep. Ben’s parents had no idea how much pain Ben was in. After countless months of routine checkups, Ben was taken to a new doctor where he was later diagnosed with the rare disease. Ben’s

Tertiary intervention must occur once the individual has been diagnosed with the disease and from this point forward can only fight against the disease as best as they can. At this stage in the disease you will have the disease and you can only help the disease by doing certain things to help you live longer than expected (if the disease causes fatality). For example, when a patient realizes that they have diabetes, that individual will live with that complication for the rest of his/her life. Therefore, in order for diabetic patients to live with their diabetes they must use insulin to regulate their glucose levels in the blood. In the disease of Rickets, children can only prevent Rickets from getting worse in this stage taking Vitamin D, Calcium, or Phosphorus supplements. (4)

Lastly theirs stage 4 which is ridiculously hard to cure . it can not be treated as other stages, over the years it has shown that drugs are more effective than therapy.

This condition is not one of those that are easily diagnosed. Also it is usually not

This genetic disorder goes by many names such as Tay sachs, B variant GM2 gangliosidosis, GM2 gangliosidosis, type 1, HexA deficiency, Hexosaminidase A deficiency, Hexosaminidase alpha-subunit deficiency (variant B). Those are some of the many names for Tay Sachs.

not be detected until later in life. This disease puts restrictions on exercise and the proper

c.ii. This disease develops at a slow pace so most people don’t notice the symptoms.

The patient is a 52-year-old gentleman presented to the ER complaining of generalized weakness, dizziness and difficulty ambulating. The wife stated that she was unable to move him from the bed. Other history is that he was recently diagnosed with shingles and for the past 4 days he's been taking Valtrex prescribed by Dr. Arnuk. There are no other symptoms but states the symptoms have gradually gotten worse until today the day of presentation when he could not get out of bed or walk. His medical history is significant for number memebers neuphropathy, end-stage renal disease on hemodialysis, permanent pacemaker for for trifascicular block, disc disease, neuropathy, corneal injury, anemia of chronic disease and bilateral carpal tunnel surgery.

As a result of improvements in treatment and medical program over recent decades, the current five year survival rate is 89% for children with ALL under 15 years of age (5). In USA, results in advances

Watchful waiting may be advised for certain types.The outcome is dependant on the subtype with some being curable and treatment increases survival in most.