Peadiatrics Flashcards
0
Q
Describe the pathology of asthma
A
Airflow obstruction in asthma is the result of contraction of the airway smooth muscle and swelling of the airway wall due to:
- smooth muscle hypertrophy and hyperplasia
- inflammatory cell infiltration
- oedema
- goblet cell and mucous gland hyperplasia
- mucous hyper secretion
- protein deposition
1
Q
What is asthma?
A
Asthma is a chronic inflammatory disorder of the airways. In susceptible individuals this inflammation causes recurrent episodes of wheezing, breathlessness, chest tightness, coughing (particularly at night or in the early morning).
2
Q
What are the risk factors for asthma?
A
RSV, rhinovirus
Atrophy (eczema, allergic rhinitis, allergies)
Tobacco exposure
Exercise or play
3
Q
What is the six step asthma management plan?
A
- assess severity
- achieve best lung function
- maintain best lung function (triggers)
- maintain best lung function (medications)
- develop an asthma action plan
- educate and review
4
Q
How do you complete an initial assessment of acute asthma?
A
Do they have altered consciousness?
Whatis their oximetry on presentation (>94 mild, <90 severe life threatening)
Do they talk in sentences, phrases, or words?
What is their pulse(<100 mild, >200 severe)
Do they have central cyanosis?
How loud are their wheezes (quiet wheezes can be bad)
What is the PEF?
What is the FEV1?
5
Q
How do you manage an acute attack of asthma?
A
Give oxygen if needed, give medications (bronchodilators and steroids), do investigations,
6
Q
What is croup?
A
Croup, also own as laryngotracheobronchitis, is a common respiratory disease in children. It is characterised by acute onset barking seal like cough, stridor, hoarse voice, and respiratory distress. The symptoms are a result of upper airways obstruction as a result of inflammation due to viral infection (commonly parainfluenzae virus 1and 3)
7
Q
What are the four areas of development?
A
Gross motor, fine motor, language and special senses, and personal social.
8
Q
What are the different causes of obstructive congenital heart disease?
A
Causes of obstructive congenital heart disease include aortic stenosis, pulmonary stenosis, and coarctation of the aorta. They present with pallor, decreased urine output, cool extremities, poor pulses, shock, or sudden collapse.
9
Q
What developmental milestones do you expect at 6 months?
A
Puts weight on hands whilst prone. Ulnar grasp, transfers objects from hand to hand, begins to babble, responds to name
10
Q
What developmental milestones do you expect by nine months?
A
Pulls to stand,ncrawls,mfinger thumb grasp, says momma/dada one word imitations, plays games peek a boo
11
Q
What developmental milestones do you expect by one year of age?
A
Walks with support, pincer grasp, 2words, follows one step commands, drinks with cup, waves bye bye
12
Q
At what point should you be worried that a child is not walking?
A
You should be worried that a child is not walking by 18 months.
13
Q
At what point should you be worried about a child’s speech?
A
You should be worried about a child’s speech if there is less than 3 words at 18 months
14
Q
What is the rooting reflex?
A
Rooting reflex is when the infant pursues tactile stimuli near the mouth
15
Q
What is the Moro reflex?
A
The Moro reflex occurs when the infant is placed semi upright head supported by the examiners hand and there is sudden withdrawal of the supported head with immediate re support. The reflex consists of abduction and extension of the arms, opening of the hands, followed by flexion and adduction of arms. Absence of the Moro reflex suggests a CNS abnormality, asymmetry suggests a focal motor lesion (eg brachial plexus injury)
16
Q
What are the reflexes that you can test in a young infant?
A
Rooting reflex, Moro reflex, gallant reflex, grasp reflex, stepping reflex and babimskis sign
17
Q
What are the ages at which a child is scheduled for vaccinations?
A
Birth (hep B) 2 months (hepB, DTPa, HiB, IPV and rotavirus, and pneumococcal conjugate) 4 months (hepB, DTPa, HiB, IPV and rotavirus, and pneumococcal conjugate) 6 months (hepB, DTPa, HiB, IPV, and rotavirus, and pneumococcal conjugate) 12 months (HiB, meningococcal C, MMR) 18 months (chicken pox) 4 years (MMR, DTPa and IPV)
18
Q
What are the signs of inadequate feeding in newborns?
A
<6 wet nappies a day after the first week (1stool per days in age for the first week) Sleepy or lethargic <7 feeds per day Weight loss >10% of birth weight Jaundice
19
Q
What’s the difference between breastmilk jaundice and apbreastfeeding jaundice?
A
Breast feeding jaundice occurs in the first week or two of life due to the lack of milk production and subsequent dehydration, likely to be a mechanical problem. Breast milk jaundice is rare and can persist up to 4-6 months. It’s not fully understood but is thought to be due to substances in breast milk that inhibit conjugation of bilirubin or increased enterohepatic circulation of bilirubin, likely a biochemical problem.
20
Q
What causes of failure to thrive produce a decreased weight, normal height and normal head circumference?
A
Caloric insufficiency, hyper metabolic state, decreased intake, increased losses.
21
Q
What type of failure to thrive causes decreased weight, decreased height, and normal head circumference?
A
Structural dystrophies, endocrine disorder, consitutional growth delay, familial short stature
22
Q
What types of failure to thrive cause decreased weight, decreased height, and decreased head circumference?
A
Inter uterine insult, genetic abnormality
23
Q
What is the definition of failure to thrive?
A
FTT is when weight is <3 centile or less than 80% of expected weight for heir and age. Inadequate caloric intake is the most common factor in poor weight gain.
24
What are the different organic reasons for failure to thrive?
Inability to feed (eg reflux, poor breast milk supply), vomiting/diarrhoea, pancreatic insufficiency, coeliac disease, cystic fibrosis, renal disease (eg renal tubular disease), congenital hypothyroidism, hypopituitarism, diabetes mellitus type 1, diabetes insipidus, cardiac disease, malignancies, chronic infections, SLE, syndromes, GH deficiency, Foetal alcohol syndrome, TORCH infections.
25
What are the non organic causes of failure to thrive?
Malnutrition, inadequate nutrition, errors in formula, neglect, abuse, picky eaters
26
What are the organic causes of childhood obesity?
Cushing's syndrome, prader Willi, carpenter, Turner syndrome, hypothyroidism,
27
What is infantile colic?
Infantile colic occurs in 10% of infants. There are unexplained paroxysms of crying for >3 hours a day for >3 days per weeks in an otherwise healthy well fed baby. It is generally regarded as a lack of the normal peristaltic movement in the GI tract. Peaks at 6-8weeks of age, child cries, pulls up legs, and passes gas soon after feeding
28
What are the characteristics of innocent heart murmurs?
Innocent heart murmurs are asymptomatic, they are generally systolic ejection murmurs, that are less than grade 3 (thrill not palpable), there may be a physiological splitting of S2, there are no extra sounds or clicks, and the murmur varies with a change in position.
29
What are the characteristics of pathological murmurs?
Pathological murmurs are associated with symptoms and signs of cardiac disease (FTT, excercise intolerance). All diastolic, pan systolic, or continuous murmurs (except venous hum) are pathological. They may be greater than a grade 3, may have a fixed split or a single S2, extra sounds or clicks may be present.
30
What are the five different types of innocent heart murmurs?
Peripheral pulmonary stenosis, Still's murmur, venous hum, pulmonary ejection murmur, shura clavicular arterial bruit.
31
What is a stills murmur?
Stills murmur is a benign heart murmur that is heard on the lower left sternly border or apex and has a 'musical' and 'vibratory' quality to it.it is a systolic ejection murmur that occurs in children aged 3-6 years.
32
What is the ductus arteriosus?
The ductus arteriosus shunts blood from the pulmonary artery to the aorta in foetal circulation( and in reverse in adult circulation if still patent). When it closes it becomes the ligamentum arteriosus.
33
Describe the flow of foetal circulation.
Placenta (oxygenated blood)-> umbilical artery -> ductus venosus -> IVC -> RA -> foramen ovale -> LA -> LV ->aorta -> body
34
Describe the flow of deoxygenated blood in the foetal circulation.
Deoxygenated blood return via the SVC to the RA -> 1/3 of blood entering the RA does not flow through the foramen ovale and instead flow through foramen ovale -> RV -> pulmonary arteries -> ductus arteriosus -> aorta -> systemic circulation -> systemic circulation -> placenta for reoxygenation.
35
What is the ductus venosus?
The ductus venosus is a blood vessel in foetal circulation that allows oxygenated blood to bypass the liver, travelling from the umbilical vein to the ductus venosus to the IVC. When it closes up it later becomes the ligamentum venosum.
36
What happens to the umbilical vein after birth?
After birth the umbilical vein is no longer used and will close up within a week of the babies birth. It is replaced by a fibrous cord that be ones known as the round ligament of the liver (also called the ligamentum terres hepaticus). It extends from the umbilicus to the transverse fissure where it joins with the falciparum ligament to seperate the right and left lobes of the liver.
37
Describe the changes to foetal circulation at birth.
With the first breath the lungs open up and pulmonary resistance decreases allowing pulmonic flow. The low resistance placenta separates so that the systemic circulation then becomes a high resistance system and the ductus venosus closes. The closure of the foetal shunts and the changes in the pulmonic/systemic resistance mean that normal adult circulation is achieved. The increases in pulmonic flow increase the left atrial pressure leading to foramen ovale closure. Increased oxygen concentration in blood after birth leads to decreased prostaglandins leading to closure of the ductus arteriosus.
38
What does CHARGE syndrome stand for?
Coloboma of the eye, heart defects, atresia of the nasal chloanae, retardation of growth and development, genital and/or urinary abnormalities, ear abnormalities and deafness.
39
You find a boot shaped heart on CXR. What conditions do you expect?
Boot shaped heart or tricuspid atresia.
40
You find an egg shaped heart on CXR. What do you suspect?
Transposition of the great arteries.
41
You see a snowman shaped heart on CXR. What condition do you suspect?
Total anomalous pulmonary venous return.
42
If someone has congenital heart disease and they are cyanotic, which conditions do you expect?
5 Ts and hypoplastic left heart syndrome. The 5 Ts are: tetralogy of fallot, transposition of the great arteries, total anomalous pulmonary venous drainage, tricuspid atresia, or truncus arteriosus. In cyanotic heart disease, think of right to left shunts
43
What are the causes of congenital heart disease that do not present with cyanosis?
These are causes that are either obstructive or that cause a left to right shunt. Obstructive causes are coarctation, aortic stenosis, pulmonic stenosis. L->R shunt is caused by ASD, VSD, PDA, atrioventricular septal defect.
44
If a left to right shunt is not treated, what are some of the pathological changes that are seen in the body?
There is pulmonary hypertension, left ventricular dilatation and dysfunction, increased right ventricular pressures and hypertrophy, and eventual right to left shunts.
45
What are the different types ASD?
There are three types of ASD; ostium primum (common in Down syndrome), ostium secundum (most common type), and sinus venosus (defect located at the entry is the superior vena cava into the right atrium).
46
What is found on history of ASD? What is found on exaltation? What is found on CXR and ECG?
Examination shows a pulmonic outflow murmur (a systolic ejection murmur) with a mid diastolic rumble at the left lower sternly edge, and a widely split and fixed S2.
47
What is the most common congenital heart defect?
The most common congenital heart defect is a VSD
48
What is the typical history and findings for a small VSD?
A small VSD is usually asymptomatic with the child experiencing normal growth and development. Physical exam shows a early systolic to holo systolic murmur that is best heard at the left lower sternal border. Small VSDs will be louder than large VSDs. ECG and CXR are normal, and the small VSD is likely to close spontaneously.
49
What is the history and findings for a moderate to large VSD?
Patient may have secondary pulmonary hypertension, and CHF by two years of age. The patient may have a history of delayed growth and development, decreased excercise tolerance, recurrent URTIs or 'asthma' like episodes, or CHF. On physical exam one will find a holo systolic murmur on the left lower sternal border with a thrill, and a mid diastolic rumble at the apex. The size of the VSD is inversely related to the intensity of the murmur. An ECG may show left ventricular hypertrophy, left atrial hypertrophy, and RVH. A CXR may show increased pulmonary vasculature, CHF, and cardiomegaly. Treat CHF and close surgically.
50
What is different between the prognosis of a PDA in a term infant and a premature infant?
PDA is more common in premature infants. They are likely to close spontaneously in a premature infant and less likely to in a term infant.
51
What is a common history for a child with a PDA?
Pt may be asymptomatic, or may have apnoiec or bradycardic spells, poor feeding, and acessory muscle use.
52
What will be found on physical exam of an infant with PDA?
On physical exam there may be tachycardia, bounding pulses, hyperactive preacordium, wide pulse pressure, continuous 'machinery' murmur best heard at the infra clavicular area
53
How do you treat a PDA?
Treatment can be by giving Indomethacin. Indomethacin is a PGE2 antagonist (PGE2 maintains ductus arteriosus patency) only effective in premature infants if necessary. Catheter or surgical closure if PDA is contributing to respiratory compromise, poor growth or persists beyond the 3 rd month of life.
54
What conditions is coarctation of the aorta associated with?
Coarctation of the aorta is associated with bicuspid aortic valve and Turner syndrome.
55
What is coarctation of the aorta?
Coarctation of the aorta is a narrowing of the aorta that almost always occurs at the level of the ductus arteriosus.
56
What is found on history and examination of a child with aortic coarctation?
Some children have high blood pressure during infancy, decreased pulses in the periphery, radio-femoral delay, absent or systolic murmur with late peak at apex, left axilla, and left back
57
How do you treat coarctation of the aorta?
Give prostaglandins to keep PDA open for stabilisation, and then treat with balloon arterioplasty or surgical correction in symptomatic neonate.
58
What is Ebstein's anomaly?
Ebstein's anomaly is a congenital defect of the tricuspid valve in which the septal and posterior leaflets are malformed and displaced onto the RV leading to variable degrees of right ventricular dysfunction, TS, TR, or functional pulmonary atresia if RV unable to open pulmonic valves
59
What is a truncus arteriosus?
Truncus arteriosus is where the child is born with a single great vessel arising from the heart which gives rise to the aorta, pulmonary, and coronary arteries. The truncal valve overlies a large VSD. Treatment is surgical repair within the first six months of life to prevent development of pulmonary vascularise disease.
60
What is hypoplastic left heart syndrome?
Hypo plastic left heart syndrome is a spectrum of hypo plasma of the left ventricle, atresia mitral valve and/or aortic valves, small ascending aorta, coarctation of the aorta with resultant systemic hypoperfusion. Systemic circulation is dependent on ductus patency, upon closure of the ductus, infant presents with circulatory shock and metabolic acidosis.
61
What are the symptoms of congestive heart failure in an infant?
In an infant, congestive heart failure presents with feeding difficulties, easy fatiguability, exertional dyspnoea, diaphoretic when sleeping or eating, respiratory distress, lethargy, cyanosis, FTT.
62
How does congestive heart failure present in a child?
CHF presents in a child with decreased excercise tolerance, fatigue, decreased appetite, FTT, respiratory distress, frequent URTIs, or 'asthma' episodes.
Orthopnoea, paroxysmal nocturnal dyspnoea are NOT common findings in children.
63
What are your likely physical findings on a Peadiatrics case with congestive heart failure?
Tachycardia, tachypnoea, cardiomegaly, hepatomegaly.FTT
Respiratory distress; gallop rhythm, wheezing, crackles, cyanosis, clubbing
Alterations in peripheral pulses,
Dysmorphic features associated with congenital syndromes.
CXR: cardiomegaly, pulmonary venous congestion.
64
How do you manage congestive heart failure in peads?
Manage with correction of underlying cause, sitting up, giving oxygen, sodium and water restriction, increased caloric intake, give diuretics, digoxin, after load reducers.
65
What are the most common causes of infective endocarditis?
70% is streptococcus, 20%staphlococcus (staph aureus, staph epidermis). Note 10-15% of cases are culture negative.
66
What are the findings for infective endocarditis?
Oskar nodes, janeway lesions and splinter haemorrhages are all late findings for children.
Other symptoms include fever, chills, night sweats, headache, sob, murmur.
67
What prophylaxis should be given to prevent infective endocarditis? Whom should it be given to?
Amoxicillin should be given prophylactically for all patients with cyanotic congenital heart disease, rheumatic valve lesions, prosthetic heart valves, palliative shunts and conduits, previous endocarditis, pacemaker leads.
68
What is the criteria of diagnosis for intellectual disability?
Below average intellectual functioning as defined by an IQ of approximately <70 (2standard deviations below the mean), AND:
- onset before age 18
- deficits in adaptive functioning in at least two of communication, self care, home living, social skills, self direction, academic skills, work, leisure, health, safety
69
What are the differential diagnoses for language delay?
Hearing impairment, cognitive disability, pervasive developmental disorder (including autism), selective mutism, Landau-Kleffner syndrome (acquired epileptic aphasia), mechanical problems (cleft palate, cranial nerve palsy), social deprivation.
70
What is the criteria for diagnosis of foetal alcohol syndrome?
- growth deficiency (low birth weight or growth deceleration over time not due to malnutrition)
- characteristic pattern of facial anomalies (short palpebral fissures, flattened philtrum, thin upper lip, flat mid face)
- CNS dysfunction; microcephaly and /or neurobehavioural dysfunction (hyperactivity, fine motor problems, attention deficits, learning disabilities, cognitive disabilities)
- evidence of maternal drinking during pregnancy
71
What is the classical presentation of type one diabetes mellitus?
Classical presentation of type 1 diabetes mellitus is polydipsia, polyuria, abdominal pain, weight loss, and fatigue. 25% present with diabetic ketoacidosis.
72
What are the hormones that increase during diabetic kero acidosis?
Counter regulatory hormones increase. These include glucagon, cortisol, growth hormone, and epinephrine. This type of hormone imbalance encourages glucogenisis, glycogenolysis, and lipd lysis.
73
What is DKA?
Diabetic ketoacidosis is caused by an absolute or relative deficiency of insulin. It presents with a triad of hyperglycaemia (>13.9), ketonaemia, and acideamia.
74
What are the symptoms of diabetic ketoacidosis?
Symptoms of diabetic ketoacidosis include increased polydipsia and polyuria, nausea and vomiting, general malaise and weakness, anorexia, and abdominal tenderness. Patient may have sweet breath, decreased skin turgor, decreased reflexes, kaussmaul breathing or laboured respirations, decreased consciousness or confusion. On inspection they will have tachypnoea, tachycardia, and hypotension. The DKA may have been triggered by an illness so they may also have signs of infection such as fever.
75
What are the causes of DKA?
Infection or illness, missed insulin dose/poor compliance, first presentation diabetes. Pregnancy, insulin pump malfunction, medications (eg antipsychotics, corticosteroids)
76
Describe the changes to electrolytes during diabetic ketoacidosis.
Hyperglycaemia results in high serum osmolality and high levels or dieresis. This combines with the acideamia to cause a great disturbance and loss of electrolytes. The most prominent loss is total body potassium levels. The loss is not reflected in the serum levels, which may be normal or even high. There is a shift of potassium from being intracellular to being extra cellular in exchange for hydrogen ions from the high serum acidosis. There is then a loss of the extracellular potassium due to diuresis. If someone has hypokaleamia on serum levels the loss of potassium is quite serious.
Due to the hyperosmolality, there is a shift of water to outside of the cells. This causes a dilution all hyponatreamia. Chloride and Sodium is also lost in the urine.
77
How do you treat DKA and what do you have to be carefulof?
Treat DKA by:
- treating dehydration (give fluids eg NaCl)
- treat hypokaleamia if normal or low, as well as treating any other serum abnormalities
- treat hyperglycaemia by giving insulin
- treat acideamia by giving bicarbonate infusion only if very severe
-treat any underlying infection.
Be careful of giving insulin too fast and too quickly. This can cause hypoglycaemia and rebound ketosis, and can also cause life threatening hypokaleamia (already depleted K levels suddenly drop in the blood as they move back into the cells). Make sure that any potassium problems are fixed before giving insulin.
78
What is cystic fibrosis?
Cystic fibrosis is a disease that results from a mutation found in the CFTR gene (cystic fibrosis transmembrane conductance regulator) that is expressed as a Cl channel in the lungs, GI tract/intestines, pancreatic ducts, sweat glands, and reproductive tissues. The most common mutations result in disease with pancreatic dysfunction resulting in calorie malabsorption and lung disease resulting from a cycle of mucous rentention, infection and inflammation.
79
What is diabetes insipidus and what are its different causes?
Diabetes insipidus is the inability to concentrate urine. It can be caused by central reasons such as decreased ADH production from the brain (genetic, trauma, surgery, radiation, neoplasm, meningitis). It presents with polyuria, polydipsia, and enuresis. It may also be caused by nephrogenic reasons such as renal unresponsiveness to ADH (genetic, drug induced), x linked recessive condition that affects makes in early infancy, px with polyuria, FTT, hyperexia, vomiting, hypernatreamic dehydration.
80
What are the causes of SIADH?
Intracranial, malignancy, pulmonary disease, psychiatric disease, drugs
81
What is the presentation of SIADH?
Asymptomatic, oligouria, volume expansion, or hyponatreamia symptoms (nausea, vomiting, seizure, coma).
Labs will show hyponatreamia, urine osmality >plasma osm, urine Na>40 mmol/L. Management: fluid restriction, 3%NaCl for symptomatic hyponatreamia.
82
What is the typical presentation of intersussception?
Occurs between the ages of 3months to 3 years, mostly idiopathic due to enlarged peyers patches. There is a telescoping of a segment of bowel into its distal segment causing ischeamia and necrosis. The lead point of telescoping may be peyers patches, meckel's divertciculum, polyp, malignancy, and henoch-Schlein purpura.
Intersussception presents with a triad of abdominal pain, palpable mass, and red current jelly stools (stools only in 10-15% of patients). The mass is sausage shaped and found in the upper to mid abdomen. Late symptoms include vomiting and rectal bleeding, dehydration and shock.
83
How do you diagnose intersusseption?
Intersusseption can be diagnosed on ultrasound. An air enema can be diagnostic and therapeutic.reduction can take place under hydrostatic pressure. Surgical reduction is rarely needed.
84
What are the causes of vomiting in a newborn?
Tacheooesoohageal fistula, pyloric stenosis, duodenal atresia, or malformation of the intestine
85
What are the viral causes of acute diarrhoea?
Rotavirus, adenovirus, or norwal virus.
86
What are the bacterial causes of diarrhoea?
Salmonella, campylobacter, shigella. Pathogenic E. coli, yersinia, C. difficile
87
What are the parasitic causes of diarrhoea?
Giardiasis lamblia, entamoeba histolytica
88
What are the non infectious causes of acute diarrhoea?
Antibiotic induced, non septic (associated with systemic infection), Hirschsprung's disease, toxin ingestion, primary disaccharide deficiency.
89
What are the clinical features of a viral infects causing acute diarrhoea as opposed to a bacterial infection causing acute diarrhoea?
Viral acute diarrhoea is more common, it is associated with URTIs, resolves in 3-7 days and is associated with slight fever, malaise, vomiting, and vague abdominal pain.
90
Wha are common causes of chronic diarrhoea in a neonate?
GI infection, disaccharide deficiency, cows milk intolerance, cystic fibrosis.
91
What are common causes of chronic diarrhoea in children (age 3 years to 18 years)?
GI infection, coeliac disease, IBD
92
What is the typical Peadiatrics presentation of coeliac disease?
A typical Peadiatrics presentation of celiac disease occurs between 6-24 months with the introduction of gluten in the diet. It presents with FTT with poor appetite, irritability, and apathy, there may be anorexia, nausea, vomiting, oedema, aneamia, abdominal pain,wasted muscles, distended abdomen, flat buttocks, clubbing of fingers, rickets,and
non GI manifestations: dermatitis herpatiformis, dental enamel hypoplasia, osteopenia/osteoperosis, short stature, delayed puberty.
93
What is milk protein allergy?
Milk protein allergy is an immune mediated injury. There is often a history of atopy. The pt may present with
- enterocolitis: vomiting, diarrhoea, aneamia, heamatochezia
- enteropathy: chronic diarrhoea, hypoalbuminaemia
94
What are the investigations you order for Hirschsprung's disease?
Abdo x -cannot see gas in rectum
Barium enema: proximal dilatation due to functional obstruction, empty rectum. Rectal biopsy is the definitive diagnostic tool and shows absence of ganglion cells.
95
What are the physical characteristics seen in Down's syndrome?
- Up slanting palpebral fissures, inner epicanthic folds, speckled iris (brushfields spots), refractive errors (myopia), acquired cateracts .
- low set ears
- protruding tongue, low flat nasal bridge
- short stature, excess unchallenged skin, hypotonia at birth,
- simian (single tranverse palmar) crease
96
What comorbities are seen in trisomy 21?
Dysplastic hips, vertebral anomalies, cardiac defects (particularly AVSD), duodenal/oesophageal/anal atresia, TE fistula, Hirschsprung's disease, chronic constipation, cryptorchidism, rarely fertile, low IQ, developmental delay, hearing problems, early onset dementia, depression, hypothyroidism, myopia.
97
What is fragile x syndrome?
Fragile x is an x linked genetic anticipation CGG trinuceotide repeat on X chromosome, confers easy breakage of chromosome. It results in mental retardation, elongated face, large protruding ears, macrorchidism, stereotypic movements (hand flapping), and social anxiety.
98
What is klinefelters syndrome?
Klinefelter's occurs in 47XXY, or 48 XXXY, or 49XXXXY. They are phenotypically males. Physical traits generally appear after puberty.
Males have weaker muscles and reduced strength, they are tall,have a less muscular body, less beard growth, less body hair, broader hips, narrower shoulders, female pattern pubic hair, larger breasts, lower energy levels, and weaker bones. They are often infertile or have reduced levels of fertility.
99
What is Turner syndrome?
Turner syndrome is 45X. Girls present with short stature, short webbed neck, low posterior hair line, broad chest, widely spaced nipples, mildly deficient to normal intelligence, infertility, primary amennorrhoea, normal life expectancy. Noonan syndrome is very similar except that it is not x linked and can occur in males.
100
What is DiGeorge syndrome?
DiGeorge syndrome is caused by micro selections of 22q11. CATCH 22
Cyanotic CHD (may account for 5% of all cases of CHD)
Anomalies; craniofacial anomalies typically micrognathia and low set ears
Thymic hypoplasia 'immunodeficiency' recurrent infections
Cognitive impairment
Hypoparathyroidism, hypocalceamia
22q11 microdeletions
101
Describe prader Willi
Prader Willi occurs when there is a lack of paternally imprinted genes on chromosome 15q11 due to deletion of paternal chromosome 15q11 or two maternal chromosome 15s. Can occur in males and females. Pt presents with hypotonia and weakness, hypogonodism, obsessive hyperplasia, obesity, short stature, almond eyes, small hands or feet with tapering of fingers, variable developmental delay and type two diabetes.
102
Describe angelman syndrome.
Angelman syndrome is caused by a lack of maternally imprinted genes on chromosome 15q11. It presents with severe intellectual disability, seizures, tremulousness, hypotonia, midface hypoplasia, fair hair, uncontrollable laughter.
103
What is muscular dystrophy? What are the different types?
Muscular dystrophy is a group of inherited diseases characterised by progressive skeletal and cardiac muscle degeneration. Different types include duchennes muscular dystrophy and backers muscular dystrophy, congenital, distal, fascioscapulohumeral, emery Dreifuss, limb girdle, myotonic, occulooharyngeal muscular dystrophy.
104
What is Duchennes muscular dystrophy?
Duchennes muscular dystrophy generally occurs in males. 1/3 are spontaneous mutations, 2/3s are x-linked recessive. It is caused by the missing structural protein dystophin, that causes muscle fibre fragility, causing fibre breakdown, resulting in necrosis and regeneration. Clinical feature include proximal weakness, positive gowers sign, waddling gait, toe walking hypertrophy of calf muscles and wasting of thigh muscles. Cardiomyopathy, moderate intellectual compromise. Will have increased CK and lactate dehydrogenase. Confirm with muscle biopsy and EMG. Patient usually wheelchair bound by 12. Death due to respiratory failure/pneumonia or CHF in 2nd to 3rd decade.
105
What is backers muscular dystrophy?
Backers muscular dystrophy is x linked recessive, due to ,Italian in the dystrophin gene with some protein production. Symptoms are similar to duchennes but onset is later in childhood and progression is slower. Death occurs due to respiratory failure in the 4th decade.
106
What is vacterl association?
Vacterl should be suspected when a child has a tracheo oesophageal fistula.
Vertebral dysgenesis
Anal atresia (imperforate anus) plus fistula
Cardiac anomalies (VSD)
TE tracheo oesophageal fistula
Renal anomalies
Limb anomalies (radial dysplasia, pre axial polydactyl, syndactyly
May also present with FTT, or single umbilical artery. May have normal health and mental development with aggressive treat,ENT of abnormalities.
107
What are the typical clinical manifestations of metabolic diseases?
```
Vomiting and acidosis after feeding initiation (amino acid or carbohydrate metabolic disorder), hepatosplenomegaly (due to metabolises accumulating in the liver),
Neurologic syndrome: acute and chronic encephalopathy, intellectual disability, megalencephaly
Severe acidosis (aminoaciduria), growth retardation, seizures, coma, hypoglycaemia, autonomic manifestations (pallor, sweating, tremor).
Odour (burnt sugar, sweaty feet, musty, ammonia like), hypo/hyperpigmentation,
```
108
What is PKU?
Phenylketonuria is a deficiency of phenylalanine hydroxyl are that prevents the conversion of phenylalanine to tyrosine leading to a build up of toxic metabolites. Baby is normal at birth and the. Develops a musty odour, eczema, hypertonic, tremors, and mental retardation. There is often hypopigmentation (fair hair, blue eyes). Treat with dietary restriction of phenylalanine.
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What are the risk factors for iron deficiency aneamia?
- Age >6 months receiving less than 2 servings of iron fortified cereal, red meat, or legumes
- age >12 months use of low iron formula (<10 mg/L), cow, goats, or soy milk, to fulfil milk based diet
- age 1-5 years >600mL per day of milk
- blood loss
- cows milk protein induced allergic colitis.
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What investigations do you do and what do you find in a case of iron deficiency aneamia?
FBC: low Hg, MCV, and MCH, reticulocyte count normal or high, normal WBC
Mentzer index (MCV/RBC) ratio >13 suggests iron deficiency, <13 suggests thalessemia
Blood smear: hypochromic, microcytic RBCs, pencil shaped cells, poikilocytosis
Iron studies showing low ferritin, low iron, high TIBC
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What are the symptoms of iron deficiency aneamia and what ages do you most commonly find it in?
Found in ages 1-3 and 11-17 year olds. Can cause irreversible effects on development if untreated (behavioural and intellectual difficulties) in infancy.
Px with pallor, fatigue, pica, tachycardia, and systolic murmur. Complications include angular chelitis, glossitis, koilonychia.
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What is a full septic work up?
Blood culture and sensitivities, FBC and differential, urinalysis, LP, CXR if respiratory symptoms present, stool C&S if GI symptoms
