Pg 55 Flashcards
definition of anaemia?
Hb <100 g/L in infants (post neonatal)
Hb <110 g/L from 1-12 years old
What are the causes of anaemia in infants and children?
• Decreased RBC production
• Haemolysis (HSC, G6PD, SCD, Thalassemia, autoimmune)
• Bleeding (Meckle’s, vWD)
Combination = anaemia of premiturity
Causes of decreased RBC production
o Ineffective erythropoiesis: (Fe/ B9 deficiency, chronic disease).
o Red cell aplasia: Parvovirus B19, Diamond-blackfan anemia.
diagnostic approach to anaemia?
Reticulocytes => Low
= RBC aplasia (DB, BV) => BV serology and
bone marrow aspirate.
diagnostic approach to anaemia?
Reticulocytes high =>
High bilirubin = Haemolysis => Blood film and Hb
HPLC.
Low bilirubin => Ineffective erythropoiesis (Fe
deficiency) => blood film and serum ferritin.
INHERITED predisposing factors for thrombosis in children?
o Protein C & S deficiency
o Factor V and prothrombin mutations
o Anti-thrombin deficiency
ACQUIRED predisposing factors for thrombosis in children?
o Catheter related o DIC o Hypernatremia o Polycythaemia (CHD) o SLE/ malignancy
How does bone marrow failure syndromes manifest?
o Bleeding
o Anaemia
o Infection
What are the 4 main components of normal haemostasis?
o Platelets
o Clotting factors
o Clotting inhibitors
o Fibrynolytic agents
What is Marfan’s syndrome?
• AD: Abnormal fibrillin
• General inspection: Tall, Thin, altered body proportions
• Hands: Tall slender fingers: Arachnodactyly
• Face: Upward lens dislocation, severe myopia.
• Mouth: High arched palate, crowded teeth.
• Chest: Pectus carinatum (Protruding), Pectus excavatum (Sunken),
Scoliosis.
• Mitral prolapse or aortic regurgitation, Pain on P-GALS, esp lower back
and legs, Generalised hypermobility (Beighton score 4 or above),
positive thumb and wrist sign. Flat feet.
Clunk on neonatal exam:
DDH
Nocturnal MSK pain:
growing or malignancy
Sudden limp in well child:
Perthe’s, or transient synovitis
Sudden limp in sick child:
Septic
Sudden limp in obese child:
SUFE
Stiffness and swelling:
JIA
Red eyes, hands and feet rash, joint swelling:
Kawasaki
Stiff back, tripod sitting:
Vertebral osteomyelitis
common causes and red flags of back pain?
Common:
Mechanical (Posture, heavy school back)
Red flags: Tumour: Night symptoms, weight loss Osteomyelitis: Infection: High Fever QES features Trauma Young age
types of scoliosis?
• Idiopathic (most common) • Congenital (VACTERL) • Secondary: o NM imbalance: CP, MD o Bone: NFM o CTD: Marfan’s, JIA of knee with leg length discrepancy.
Scoliosis exam
o Unequal shoulder height, asymmetrical skin folds
o Bend down; if corrects, it is positional.
o Mild: Cosmetic issue => Bracing
o Severe: CR compromise and pain => Surgery
What are the types of Talipes?
• Positional: Can re-position
• Equinovarus: Fixed (Oligohydroamnios, NMD, SP, DDH). TX: Plaster
casting and bracing to avoid surgery
What are the causes of limp?
Transient synovitis Reactive arthritis SUFE Perthe’s disease DDH Septic arthritis
What are the rules of growing pains?
- Generalised symmetrical leg pain at night
- Never at the start of the day
- 3-12 yo.
- No limp
- Normal PGALS
What is hypermobility syndrome?
• Stretchy joints • Pain after activity • Conservative Mgt. • Beighton score (Thumb to wrist, bend fingers, elbows, touch ground, knees)
definition, classification and Mgt of JIA?
Persistent swelling for more than 6 weeks < 16 yo Oligo < 4 Poly 4 and above Systemic: with fever and rash
JIA Mgt:
o NSAIDS & physio
o Intra-articular steroid injections
o Immunomodulators (MTX, Biologics)
JIA Clinical features:
Swelling, pain, Gelling and stiffness, reduced ROM. Oligo: Uveitis Poly (Rh +): Nodules, symmetrical, RF +, nodules. Enthesitis: Back pain, HLA-27 + Psoriatic: Finger nail changes Systemic: Fever, rash Complications: joint damage osteoporosis anaemia proteinuria
What is the clinical picture of Inborn Errors of Metabolism?
- Serious unexplained illness.
- Seizures
- Developmental regression
- Hepatosplenomegaly
- Metabolic: Hypoglycaemia, marked lactic acidosis
How are IEM classified?
- Metabolite accumulation
- Energy metabolism
- Complex organelles
Metabolite accumulation IEM eg
o Amino acids: Homocycteinuria
o Organic acids: Isovaleric acidemia
o Urea cycle.
o Carbohydrate: Galactosemia
Energy metabolism IEM eg
o Mitochondrial diseases (MELAS)
o Glycogen storage disorders (GSD1)
o Fatty acid oxidation (Carnitine transport defects)
Complex organelles IEM eg
o Lysosomal storage disorders (Mucopolysacroidosis)
What are the management principles of IEM?
- Meds
- Enzyme replacement
- Diet
DDx child with purpura or easy bruising
non-thrombocytopenic
Henoch-Schonlein purpura
Sepsis
Trauma
DDx child with purpura or easy bruising
thrombocytopenic
ITP
Leukemia
DIC
Henoch-Schonlein purpura features
lesions confined to buttocks, extensor surfaces legs and arms, swollen painful knees and ankles, abdo pain, haematuria
Sepsis features
meningococcal or viral
fever septicemia meningitis
rash positive glass test
give parenteral penicillin
ITP features
2-10 yrs old
widespread petechiae
acute benign self resolving
DDx leukemia, aplastic anaemia
Leukemia features
malaise infection pallor hepatosplenomegaly lymphadenopathy
low Hb blasts on film confined to bone marrow
Hereditary spherocytosis
AD early severe jaundice anaemia splenomegaly aplastic crisis gallstones
Dx blood film
Tx folic acid splenectomy
G6PD deficiency
X linked
neonatal jaundice
acute hemolysis triggered by infection sulpha drugs fava beans naphthalene in mothballs
Sickle cell features
AR
anaemia infection painful crises splenomegaly growth failure gallstones behavior and learning problems
bacterial infection
acute chest syndrome
strokes
priapism
Sickle cell tx
penicillin immunisation folic acid hydration hydroxycarbamide bone marrow transplant
Clinical features of B thalassemia major
pallor jaundice bossing of the skull maxillary overgrowth splenomegaly hepatomegaly need repeat transfusions
Complications of B thalassemia major
iron deposition
antibody formation
infection
venous access
Four Qs to ask when assessing bleeding disorders
age of onset
FHx
Bleeding HX
Pattern of bleeding
Four Qs to ask when assessing bleeding disorders
age of onset
neonate - haemophilias intracranial, after circumcision
toddler - haemophilias walking
adolescent - VW menorrhagia
Four Qs to ask when assessing bleeding disorders
FHx
affected relatives all boys = hemophilia
Four Qs to ask when assessing bleeding disorders
Bleeding HX
previous surgery
systemic disorders
anticoagulants
non-accidental injury
Four Qs to ask when assessing bleeding disorders
Pattern of bleeding
mucus membrane bleeding = platelet, VW
Bleeding into joints = hemophilia
scarring, delayed hemorrhage = Marfans, osteogenesis imperfecta, factor 13 def
Hemophilia A results
INCREASED APTT
DECREASED Factor VIII:C
VW results
DECREASED VWF antigen
DECREASED RiCoF activity
Bleeding disorder screening tests
FBC, blood film PT - factor 2, 5, 8, 10 APTT - factor 2, 5, 8, 9, 10, 11, 12 Thrombin time Quantitative fibrinogen assay D-dimers Biochemical screen U+E, LFT
DDx child with abnormal bleeding
Vit K def Liver disease Thrombocytopenia Hemophilia A or B VW
causes of nystagmus?
Cortical problem
eye problem
idiopathic
criteria for ophthalmology referral in children?
- Parental concern.
- Not smiling by 6 weeks
- Squint after 3 months
- Abnormal eye movements and nystagmus
- Absent red reflex or white reflex (Cataract or retinoblastoma).
Sensorineural hearing loss
Rare, Antenatal cause, problem from cochlea onward,
irreversible, hearing aids => Cochlear implants.
Conductive hearing loss
Common, Glue ear, Problem from external ear to cochlea,
reversible, Grommets +/- adenoidectomy
ADHD Hx
• Hyperactivity (Can not sit still, wait for turn, interrupts and intrude, short
temper and poor friendships)
• Inattention (Distractibility, forgetfulness, disorganisation)
• > 1 setting
• > 6 years
How is learning disability classified and managed?
General:
Specific:
Based on IQ: Mild < 80 Moderate < 70 Severe <50 Profound <35
- Dyspraxia: Co-ordination
- Dyscalculia: Math.
- Dyslexia: Reading
- Dysgraphia: Writing
causes for global delay
o Prenatal: Infection, vascular, Genes and teratogens.
o Perinatal: PREM, HIE
o Post-natal: Infection, vascular, MDT: Metabolic (Inc.
Hyperbilirubinaemia), deficiency (nutritional, anoxia,
hypoglycaemia) and trauma.
causes for Motor delay:
Brain (CP),
spine (SB),
muscles (CM),
syndromes (DS)
causes for SL delay:
Global hearing anatomical (Cleft, oromotor incoordination in CP), environmental normal
when do you correct the age when assessing development?
For premature infants before 2 years
How and when is newborn hearing screening is done?
• By Auto acoustic emissions (OAE): Tests cochlear function; done first.
If abnormal or in baby unit then Auditory brainstem response (ABR) is
done: This tests the whole conduction pathway.
• Done before baby leaves hospital or within few weeks
CP def
permanent disorder of motor function due to non-progressive
insult to the developing brain
CP causes
o 80% Antenatal (TORCH infection, trauma, genetics, placental
insufficiency)
o 10% Perinatal: Prematurity, HIE
o 10% Postnatal: (Brain infection, trauma, seizures Kernicterus,
hypoglycaemia, hypoxia, IVH (3-4), PVL)
3 types of CP
The stiff (Spastic) The Jerky (Dyskinetic) The shaky (Ataxic)
The stiff (Spastic)
90% UMN Three subtypes: • Hemiplegic: • Diplegic • Paraplegic
Hemiplegic:
o Perinatal MCA infarct
o One side: Arm> leg
o Hemianopia, LD, seizures
o GMFCS 1-2 (Can walk)
Diplegic
o PVL
o Legs > arms
o Spares the head
o CMFCS 1-3 (May need crutches, walker)
Paraplegic
o Extensive damage to Peri-ventricular area
and cortex (IVH 3-4)
o Mixed with dystonia+ Subluxation and
scoliosis; GMFCS (4-5): Wheel chair.
Extensively involves the head: LD, seizures,
feeding, vision, hearing, speech=
Completely dependent
The Jerky (Dyskinetic).
6%
Basal ganglia
HIE, Kernicterus
The shaky (Ataxic)
4%
Cerebellum
Genetic
CP Hx
Have they ever done this before, non-progressive
Motor: Mobility, Pattern of distribution, (Stiff, involuntary
movements or shaky and unstable on feet). Stiffness and
pain (Contractures), hip dislocation & scoliosis
Head to toe: • Seizures • Vision & hearing • Feeding and tube& weight& growth • Speech • Bowel and bladder • LBSS (Learning, behaviour, sleep, school). o Meds & devices o Monitoring
CP exam
PGHTR. o Posture o Gait and hand function o Tone: Peripheral hypertonia and Truncal hypotonia o Exaggerated DTR
CP Mgt:
o Powered mobility device, walking aids. Botox, baclofen,
anticholinergic, Physio, Orthopaedics, OT.
o Antiepileptic
o SLT, feeding tube, dietician
o Hearing and vision assessment & aids
o Others (Special school, Psychologist, social worker)
incidence of T21?
1:650 for all ages.
Exponential increases after 35, up to 1:37 at 40
cytogenetic of T21?
- Mostly: Meiotic non-dysjunction
* Rarely: Mosacism, unbalanced Robertsonian translocation
T21 diagnosed?
Antenatal:
Postnatal:
o 1st US: Increased nuchal translucency > 3 mm.
o NIPT (cfDNA)
o Triple and Quadruple screen: AFP, HCG, Estriol+ Inhibin A.
Down High (High HCG and Inhibin).
o Amniocentesis or CVS => Karyotyping
o Blood sample => real time PCR, FISH (1-2 days).
most common neonatal complications?
- Hypotonia.
- Murmur => AVSD.
- GI (Duodenal atresia, HSP disease).
- Congenital hypothyroidism.
Syndrome Hx
• Diagnosis: Time, method, feelings, parental testing, genetic
counselling.
• P: Complications, gestation
• B: Method, weight, consciousness, Resuc,
• N: NICU, breathing, antibiotic, jaundice, hypoglycaemia, feeding,
vomiting, meconium, floppy, scans and heart, Heel-prick, Hearing and
vision.
• Development. Concerns then “What can they do with…”
• Growth: Chart, problems, diet.
• Active: See medical problems+ Meds and monitoring (home and
professionals) => PMSHX, SHX, and FHX+ Quick review (energy,
appetite, sleep, mood)
Patau:
Trisomy 13:
Abnormal head and eyes, Cleft
Polydactylyl
Renal + cardiac defects.
Edward:
Trisomy 18 Prominent occiput small mouth, chin and sternum overlapping fingers, Rocker-bottom feet, cardiac and renal defects
turner syndrome?
Monosomy X: Short stature, webbed neck, shield chest, Lymphedema,
spoon-shaped nails, pigmented moles, cubits valgus. Streak ovaries,
delayed puberty, hypothyroidism. Renal and cardiac (coarctation)
defects, recurrent OM
TX: GH, oestrogen and egg donation
clinical features of Kleinfelter syndrome?
Tall, acne, Gynychomastia, hypogonadism, infertile, autism, hyperactivity. Normal IQ but psychoeducational problems. TX = testosterone
Quad test
Down and turner are High: High HCG and Inhibin.
Patau: AFPatau: AFP high (also high in NTD and abdominal wall
defects).
Edward is HEllow: Low HCG and Estriol
Knudson two hit hypothesis? Give an example?
AD inherited cancer genes need two abnormal copies, RB
clinical features of Noonan syndrome?
• AD • Phenotype similar to turner but, has characteristic phenotype and affect both genders • Trident hair line and pectus excavatum • Occasional mild learning difficulties • CHD (Pulmonary stenosis and ASD).
clinical features of William syndrome?
• Sporadic mutation.
• Face: Puffy eyelids, full checks, Wide mouth and full lips, widely
spaced crooked teeth.
• Transient neonatal Hypercalcemia
• CHD: Supra-valvular aortic stenosis
• Developmental delay and learning difficulty (esp. visual-spatial tasks),
very good in language and root learning, extremely friendly and
outgoing and takes extreme interests in people, although anxiety and
phobias are common.
• Others (GIT, UT, MSK, short)
clinical features of fragile-X syndrome?
- Second most common genetic cause of ID (Mean IQ= 50).
- Macrocephaly and macroorchidism.
- Prominent ears, long face and coarse facial features
- Mitral valve prolapse
- Scoliosis and joint laxity
- Autism and hyperactivity
PWS is when
the Father gives a bad gene. (Mum already imprinted).
Hypotonia, feeding difficulties, developmental delay, learning difficulty,
hyperphagia and obesity
Angelman is when
mum gives a bad gene (Father already imprinted).
Severe cognitive impairment, ataxia, epilepsy, happy-poppy.
What is uniparental disomy?
When inherit imprintable genes from one parent and silence them both.
o PWS: No paternal copies
o Angleman: No maternal copies
clinical features of Di-George syndrome?
Sub-microscopic deletion of Ch. 22 (22q11)
• Hypocalcaemia (Spasms and seizures)
• T cell deficiency (Recurrent, complicated infections)
• Recurrent OM and CHL (Audiology)
• CHD (VSD and interrupted aortic arch) (Repaired in neonatal period)
• Facial features (Prominent ears, Thin upper lip and short phlithrum)
• Velopharyngeal incompetence => Indistinct speech (plastic surgery)
• Developmental delay
• Educational need assessment and special schooling
• Behaviour (Ritualistic and obsessional):
Malformation =
Primary structural defect e.g. SP
deformation =
was normal: Hypo plastic lung in potter sequence.
Disruption =
Disturbed by teratogenicity: abnormal limbs and thalidomide
Dysplasia =
Abnormal cell migration and function: Bone dysplasia
Karyotyping looks at
Chromosomal number or macro deletions
FISH looks at
Micro deletions
Microarray + NGS looks at
whole genome (Target free).
PCR looks at
Amplify and sequence a target
