Some uncommon Paediatrics medical diagnoses and treatments
Some of the uncommon Paediatric diagnoses are Haemophilia,Thalassemia,Sickle Cell anemia,autoimmune diseases,lysosomal storage disorders such as pompe disease,Gaucher’s disease,cystic fibrosis.
Some genetic disorders include:
Down Syndrome
It’s a genetic chromosome 21 disorder causing developmental and intellectual delay’s which is due to abnormal cell division.It may be associated with thyroid or heart disease.The only treatment is to give your child physical and mental support and speech therapy.
Huntington Disease
An inherited condition in which nerve cells in the brain breakdown over time.Symptoms include neuropsychological problems that affect their senses,muscle strength and balance and their mental state.Some physical therapies and speech therapy is recommended.Drugs like antidepressants are also prescribed.
Duchenne Muscular Dystrophy
An inherited disorder of progressive muscular weakness typically seen in boys.Symptoms include frequent falls,trouble getting up,running and learning disabilities.Treatment can help but unfortunately can’t be cured.Medications like corticosteroids can help control the symptoms and improve the quality of life.
Sickle Cell Anemia
A group of disorders that cause RBC to become misshapen and breakdown.Symptoms include infections,pain and fatigue.Medications are vitamins and blood transfusions,chemotherapy and sometimes a bone marrow transplant are the only cure.
Haemophilia
A disorder in which blood doesn’t clot normally.Excessive bleeding occurs after any injury or damage.Symptoms include joint pain and swelling,blood in urine or stool.Treatments are injections like clotting promoter for clots or plasma into the veins.
Thalassemia
A blood disorder involving lower than normal amounts of an oxygen carrying protein.It’s caused when body doesn’t make enough of a protein called hemoglobin.Symptoms are fatigue,weakness,paleness,slow growth,shortness of breath,yellow skin and eyes.Some treatments are stem cell therapy or bone marrow transplants.
Fragile X Syndrome
A genetic condition causing intellectual disability like delays in talking,anxiety and hyperactivity behaviours.Sometimes seizure symptoms are triggered.Physical symptoms are large ears,long face,prominent jaw and forehead and flat feet.Medications like muscle relaxers,antipsychotics drug and vitamins can help.They also need physical and mental support and counselling.
Cystic Fibrosis
An inherited life threatening disorder that affects the lungs and digestive systems.It affects the cells that produce mucus,sweat and digestive juices.It causes these fluid to become thick and sticky.Symptoms are cough,lung infections,weight loss and fatty stools.In newborns screening helps with early diagnosis.Dietary supplements can help,antibiotics penicillin,cough medication to clear the mucus in lungs are recommended.Also there’s airway clearing techniques done several times a day.
Some other diseases are
Pompe Disease
An inherited disease caused by the buildup of a complex sugar called glycogen in the body cells.The glycogen in certain organs and tissues especially muscle impairs their ability to function properly.It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA)which the body uses to breakdown glucose used for energy.If the condition starts in childhood patients may survive upto 30 years,if it develops in adulthood they can live upto 50 years.Unfortunately no cure exists.
Cleft lip and cleft palate
It’s the opening or split in the roof of the mouth and lip.The symptoms are difficulty speaking and feeding,nasal speaking voice,chronic ear infections.It occurs when baby’s face and mouth doesn’t fuse properly.Surgery restores normal functioning with minimal scarring.It includes palatoplasty,orthognathic surgery,bone grafting and flap surgery.
Some risk factors are associated with family history,exposure to certain substances during pregnancy like alcohol and smoking, or due to some medications,having diabetes before pregnancy or being obese during pregnancy.
Hunter Syndrome
It’s a genetic lysosomal storage disorder due to deficiency of iduronate 2-sulfatase enzyme.It occurs predominantly in males.IDS is responsible for the breakdown of large sugar molecules called glycosaminoglycans.Symptoms include stiffness in joints,thickness in facial features including nostrils,lips and tongue.Delayed appearance of teeth, or wide spaces between teeth.Patient may also experience hear loss,thickness in heart valve that can cause decline in cardiac function.Enlargement in liver and spleen.Treatment is enzymes replacements therapy.An infusion of the enzyme introduced into the body through an IV,it is given weekly and continued for the rest of your child’s life.
