LESCH NYHAN SYNDROME A report by Precious Yashim Diane 148181 Student of molecular biology and genetics department, Faculty of arts and science, Eastern Mediterranean University Introduction Lesch-Nyhan syndrome also known as HPRT (Hypoxanthine Phosphoribosyltransferase 1) deficiency or Kelley Seegmiller Syndrome is a rare hereditary disease which affects young boys, usually causing early death. It is marked by compulsive self-mutilation of the head and hands, together with learning difficulties and involuntary muscular movements. Lesch Nyhan syndrome corresponds with virtually complete HPRT deficiency and was described by Michael Lesch and William Nyhan in 1964. (1) The disease was first discovered by William Nyhan and Michael Lesch in the …show more content…
Patients are usually normal at birth but one of the earliest signs of the disease may be the observation of orange crystals in the diapers or crystalluria with obstruction of the urinary tracts. Other uncommon forms of presentation include renal failure or acidosis with repeated vomiting. The effect of psychomotor delay starts to become evident within three to six months. A delay in the acquisition of sitting and head support may lead to neurological consultation. Self-mutilation in the form of lip biting or finger chewing, biting of the tongue and biting of the lips can appear as soon as teeth are present. Head banging are usually also associated with the disease. And these mutilations can cause serious injuries or scars to the body. However the compulsive self-injury is seen in about eighty five percent of affected males. Approximately one in every 380,000 live births are affected by lesch Nyhan syndrome and only male children mostly get affected. Although, it is very rare, there have been few cases in which girls who have the disorder have been reported. Women who are carriers of the disease do not have any of the symptoms but sometimes on occasions develop inflammation of the joints (gout) at an advanced age or old age. …show more content…
For lesch Nyhan syndrome, there are two stages or phases related with severity of this disease. These are: I. The classic lesch Nyhan syndrome: this is the most severe or chronic form of this disease, the classic aspect self-mutilation and behavioral problems are observed. II. The variant lesch Nyhan syndrome: this stage does not involve human behavioral problems or self-mutilation. It is the less severe stage of the syndrome. There is no permanent cure for the neurological defects or crippling symptoms. Allopurinol is a drug that is usually prescribed to lower the risk of gout and can be prescribed to patients with lesch Nyhan syndrome because it can also reduce the level of uric acid in the patient. But it is also possible to improve the quality of life considerably for a boy with the disease. The main goal in combatting the disease is the control of the uric acid levels and keeping it within normal range. This control of the uric acids needs two specific components: I. Inhibiting the metabolism of hypoxanthine and xanthine to uric acid with allopurinol. II. Generous hydration at all times. It should be increased during periods of increased fluid
The cause of this condition is not known. RISK FACTORS This condition is more likely to develop in: • Children aged 3–15 years. • Boys.
Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.
Rett’s Syndrome Kelsey Leroux Child Development CYC 101 Lenore Simbulan October 14, 2016 Rett’s Syndrome Rett’s syndrome is defined by the Ontario Rett’s Syndrome Association (ORSA) as “a neurodevelopmental condition characterized by the loss of the spoken language and hand use, coupled with the development of distinctive hand stereotypies… It is usually caused by a mutation of the MECP2 gene on the x chromosome” (2016). Rett’s syndrome is considered by medical experts as a rare genetic neurological and developmental disorder that affects the way the brain develops causing a progressive inability to use muscles for speech, and eye and body movements. Most babies seem to develop normally until about six to eighteen months old. Rett’s
After careful consideration of the information that has been presented for Ellen Waters, I have decided that she meets the criteria for (F34.1) Persistent Depressive Disorder Severe with atypical features: Early onset. I have come to this conclusion after considering the following information. The synopsis states that Ellen has been referred for a medication consultation by her Psychotherapist whom she has been seeing for the last two years. Criteria A states that the depressed mood has to be present for most of the day, for most days and that this depression must be indicated by “subjective account” or observed by others for at least two years.
It began with infection mainly in the blood vessels of the human skin and mouth, and resulted in different kinds of symptoms for turning
Bruising on non- mobile babies. Burns, bites and scars or unusual shaped scars and fractures. Neglect--Undernourished, dirty skin and hair, dirty or soiled clothing, inappropriate clothing for the weather, hunger and stealing food, tiredness, being withdrawn, being left unsupervised and not being given any medical care. Sexual abuse--Recurrent urinary infections, genital and rectal itching and soreness, inappropriate behaviour regarding age and ability, inappropriate level of sexual knowledge, and sexual abusive behaviour toward others, lack of trust, regression, become isolated and
While there is no current medication in the market that cures UC, there are many out there than can help reduce symptoms to induce and maintain remission and improving the quality of life. Depending of the location and severity of UC there are five classed of medications that may be prescribed either orally, in suppository form, IV, enema, and rectal foam. 5-ASA (Aminosalicylates) is
Behavioral problems are common and may include hyperactivity, aggressiveness, and restlessness. Coarse facial features, Diarrhea, Full lips, heavy eyebrows that meet in the middle of the face above the nose. Other symptoms may include incontinence, speech and hearing impairment. 4. Biochemical symptom of Sanfilippo syndrome
Clive Wearing was a prolific British musical conductor and producer for BBC. He was a wildly intelligent and successful person. It came as a surprise to himself and his family when unexpectedly suffered a loss of consciousness. The type of memory loss that Clive Wearing has is retrograde and anterograde amnesia. He is unable to retain new memories; he is also unable to unearth past memories to his consciousness as well.
It made one's ears look puckered up like flower buds. It made one's skin sag and look like melting candle candle wax. It made one look ugly. How do I know so much about this rare disease?
Jasmine Yard SPCH 1500 10/5/14 Topic: Bipolar Disorder General Purpose Statement: To inform. Specific Purposes Statement: To inform my peers of the severity of Bipolar Disorder. Central Idea: To inform my peers of the severity of Bipolar Disorder, including description, the causes and symptoms, the treatments and who is more likely to develop bipolar disorder.
People with this genetic disorder have to suffer through so much pain and agony. Keeping fluids in your body can help soothe the pain and even sometimes at home medicine may help. There are many things you should avoid while having SCD that can make the pain began. Things that can keep SCD crisis from occurring is not drinking alcohol, if you’re a smoker stop smoking immediately, drink at least at the most 12 ounces of (water) a day, treat any infections if there are any or as soon as it occurs, and even trying to be positive and stay positive about yourself!! There are some at home medications that can be used to treat the pain that may be occurring before proceeding to medical care such as Tylenol other name is acetaminophen, Aspirin, ibuprofen such as Advil or Motrin, and even Aleve other name for this drug is naproxen sodium.
The first stage is asymptomatic hyperuricaemia where levels of uric acid
The patient is a 70-year-old gentleman who is referred to the St. Joseph's Hospital from the Ramapo Ridge psychiatric facility where he is presently hospitalized. The history indicates that he was sent in because of abnormal movements of his limbs. He was treated with Haldol at the Ramapo Ridge. His wife noted that 2 days prior to presentation intermittent movements his extremities, as well as increased flushing of the skin. On the day of presentation the patient also started to have some garbled speech.
Therefore, the disease was named after him. Huntington’s disease is one