Paediatrics Flashcards
what are the primitive reflexes?
- moro
- stepping
- rooting
- palmar and plantar grasp
- atonic neck
what is moro?
sudden head drop = arms out stretched
what is rooting?
baby turns head/opens mouth when corner of mouth is touched
what is atonic neck?
fencing position
when do the primitive reflexes disappear?
- MORO (4 months)
- stePPing (2 months)
- ROOTing (4 months)
- GRASP (4/5 months)
what are the limit ages for gross motor milestones?
- head control = 4 months
- sits unsupported = 9 months
- stand with support = 12 months
- walk independently = 18 months
what are the limit ages for vision and fine motor?
- fixes and follows = 3 months
- reaches = 6 months
- transfers = 9 months
- pincer grip = 12 months
what are the limit ages of hearing, speech, language?
- polysyllabic babble = 7 months
- consonant babble = 10 months
- 6 words with meaning = 18 months
- joining words = 2 years
- 3 word sentences = 2.5 years
what are the limit ages for social, emotional and behaviour skills?
- smiles = 8 weeks
- fears strangers = 10 months
- feeds self with spoon = 18 months
- symbolic play = 2-2.5 years
- interactive play = 3-3.5 years
what information is given in the 2 week new baby review?
- safe sleeping
- vaccination
- feeding
- caring
- development
what are the 8 week vaccination?
- 6 in 1
- Men B
- Rotavirus
what are the 12 week vaccines?
- 6 in 1
- pneumococcal
- rotavirus
what are the 16 week vaccines?
- 6 in 1
- Men B
what are the 1 year vaccine?
- MMR
- Boosters (Hib, Men C, Men B, pneumococcus)
what are the 3yrs 4 month vaccine?
- 2nd MMR
- DTP (Diptheria, Tetanus, Polio)
- Pertussis
what are the vaccines at 12-14 yrs?
2 x HPV
what are the vaccines at 14 years?
DTP
Men ACWY
what is included in 6 in 1 vaccine?
Parents Will Immunise Toddlers Because Death Polio Whooping cough Influenzae (Hib) Tetanus B (Hepatitis) Diptheria
how do you manage Green on NICE traffic light system?
manage at home
appropriate care advise
safety netting
how do you manage Amber on NICE traffic light system?
safety net
or refer to paediatric specialist for further assessment
how do you manage red on traffic light system?
refer urgently to paeds
treatment of early onset sepsis
IV cefotaxime + amikacin + ampicillin
treatment of late onset sepsis
IV meropenem + amikacin + ampicillin
what are the pediatric sepsis red flag signs?
- hypotension
- lactate >2mmol/L
- extreme tachycardia/tachypnoea
- SpO2 <90%/grunting/cyanosis/apnoea
- P/U on AVPU
- immunocompromised
- non-blacnhing rash/mottled skin
what is opisthotonos?
hyperextension of neck and back
sign of meningitis
what is Kernig’s sign?
pain on leg straightening
what is Brudzinski’s sign?
supine neck flexion = knee/hip flexion
when should you give dexamethasone in meningitis?
if CSF shows:
- purulent CSF
- WBC > 1000/uL
- Raised CSF WCC
- protein >1g/L
- bacteria gram stain
- > 1 month old and Hib
- not meningococcal
extra management for bacterial meningitis
- Notify HPU
- review pt at 4-6 weeks
- discuss long term complications (hearing loss = audiological assessment, neuro/development problems, renal failure)
- treat contacts with ciprofolaxacin
what further support should you offer to these pt?
www.meningitis.org
when is the apgar score measured and what is normal?
1 min, 5 min and every 5 mins after if condition remains poor
>7 normal
what are the appearance scores?
0: pale/blue
1: body pink, extremities blue
2: pink
what are the scores for pulse?
0: absent
1: <100bpm
2: >100bpm
what is the score for grimace?
0: none
1: grimace
2: cry/cough
what are the scores for activity?
0: flaccid
1: some flexion of limbs
2: well flexed, active
what are the scores for respiration?
0: absent
1: gasping/irregular
2: regular/ strong cry
what is Patau’s syndrome?
- trisomy 13
- most die in 1st month of life
characteristics of Patau
- cardiac defects: VSD, PDA, dextrocardia
- microcephaly
- microphthalmia
- cleft lip
- polydactyl
- omphalocele/ gastroschisis
what is Edward’s syndrome?
trisomy 18
what are the features of edwards syndrome?
- LBW
- small mouth/chin
- low set ears
- “Rocker-bottom” feet
- overlapping fingers
- intellectual disability
- cardiac, renal, GI abnormalities
- omphalocele/ gastroschisis
what are the features of down’s syndrome?
- hypotonia, short neck
- single palmar crease
- sandal gap
- short stature
- upslanting palpebral fissures
- flat occiput
- AVSD
- omphalocele/gastroschisis
- round face
- flat nasal bridge
- brushfields spots in iris
- 3rd fontanelle
what is the defect of Noonan’s?
mutated RAS/ mitogen activated protein kinase
what are the features of Noonan’s?
- webbed neck
- trident hairline
- pectus excavatum
- short stature
- pulmonary stenosis
cause of prader willi/angelmen’s
deletion of 15q (imprinting)
PW = father
A = mother
Prader willi symptoms
- fat, floppy, flaccid
- hypotonia
- hyperphagia
- almond shaped eyes
- hypogonadism
- obesity
- epicanthal folds
- flat nasal bridge and upturned nose
- learning difficulties
what are the features of Angelman’s?
- cognitive impairment
- ataxia
- epilepsy
- abnormal facial appearance
what causes Turner’s syndrome?
45X
features of Turner’s
- lymphoedema of hands/feet in neonate
- short stature
- spoon shaped nails
- wide carrying angle
- thick or webbed neck
- infertility
- bicuspid aortic valve/coarctation of aorta
- delayed puberty
- hypotyroidism
- pyloric stenosis
- cystic hygroma
management of Turner’s syndrome
GH therapy
oestrogen replacement therapy at puberty
what is the cause of Kleinfelter’s?
47 XXY
symptoms of Kleinfelter’s
infertility
hypogonadism
gynaecomastia
tall stature
what is the cause of fragile X?
CGG Trinucleotide repeat expansion mutation
FMR 1 gene
what are the symptoms of fragile X?
- Mean IQ = 50
- macrocephaly, macroorchidism
- large, low set ears
- long thin face
- autism, joint laxity
- mitral valve prolapse
what are the symptoms of foetal alcohol syndrome?
- microcephaly
- absent philtrum
- cardiac abnormalities
- reduced IQ
- IUGR
- small upper lip
what are the different chromosomal pathogenesis in Down’s syndrome?
94%: Meiotic non-disjunction (Chr fail to separate)
5%: Translocation (Robertsonian translocation)
1%: Mosaicism
what are the birth medical problems people with Down Syndrome have?
- congenital heart defects (40% AVSD)
- duodenal atresia
- Hirschprung’s
- omphalocele (+ umbilical hernia)
what are the later medical problems experienced in Down’s syndrome?
- delayed motor milestones
- learning difficulties
- short stature
- secretory otitis media
- visual impairment
- OSA
- joint laxity
what does down syndrome increase the chance of?
- leukaemia
- epilepsy
- hypothyroidism
- coeliac
- early onset Alzheimer’s
what is the immediate management in Down’s?
- Echo
- genetic counselling
- development delay: Physio, OT, SALT
what is the later management in Down’s?
- annual hearing test, thyroid levels, ophthalmic
- individualized education plan
- Hb level for IDA
- monitor signs of OSA
- monitor growth using Down syndrome growth charts
what support can you recommend in Downs?
- local DS clinic
- access to local parent support group
- Down Syndrome association = help line and info
what is the first newborn hearing exam?
EOAE testing
what is positional talipes and management?
feet remain in in-utero position
- -> due to intrauterine compression
management: physio
what is talipes equinovrus?
clubfoot
management: plaster casting and bracing (Ponsetti method)
Surgery
signs of mild HIE
irritable
staring eyes
hyperventilation
hypertonia
signs of moderate HIE
hypotonic
not feeding
seizures
signs of severe HIE
hypo-to-hyper tonic
seizures prolonged and refractory to treatment
multi-organ failure
Signs and symptoms of cerebral palsy
- stiff legs, scissoring of legs
- unable to weight bear/lift head
- fisted hands
- hypotonia and spasticity
- feeding difficulties
- abnormal gait
- hand preference before 1
types of CP
- spastic
- dyskinetic
- ataxic
what is spastic CP?
damage to UMN pathway
increase tone, brisk reflexes, “clasp knife” rigidity
3 main types of spastic CP
- unilateral/hemiplegia
- bilateral/quadriplegia (Hx of HIE)
- dipelgia (legs affected more)
what is diplegia spastic CP associated with?
preterm damage
PVL
what causes dyskinetic CP?
damage to basal ganglia
cause: HIE, kernicterus
sign of dyskinetic
involuntary uncontrolled movements
what causes ataxic CP?
damage to cerebellum
most genetically determined
what is a classic feature of CP?
persistent toe walking
support in CP website
SCOPE disability charity
www.cerebralpalsy.org.uk
what staging system is used for NEC?
Bell’s staging
what are the appearances of NEC on an AXR?
gas cysts in bowel wall
what are the metabolic causes of jaundice?
- Gilbert’s (infection trigger)
- Crigler-Najjar (glucuronyl transferase deficiency = massive uBR)
- Dubin Johnson
what do you need to give after exchange transfusion/phototherapy/IVIG?
folic acid to prevent anaemia
what are the important things to remember in phototherapy?
protect eyes
regular feeding breaks
check bilirubin levels every 4-6 hours
what are the resources you can recommend in neonatal jaundice?
- NHS choices neonatal jaundice fact sheet
- breastfeeding network
what is persistent pulmonary hypertension associated with?
- birth asphyxia
- meconium aspiration
- septicaemia
- RDS
what are the PPH S/S?
cyanosis after birth
absent heart sounds
signs of HF
what are RDS RFs?
male
DM mothers
CS
2nd born of premature twin
what is the appearance of RDS on CXR?
ground glass appearance
what is the meconium ileus management?
gastrograffin enema
surgery
when does a malrotation present?
3-7 days after birth
investigations and management of malrotation volvulus?
USS and GI contrast
Tx: Ladd’s procedure
what to watch out for in cleft-lip before repair?
specialised feeding
watch out for airway probelm
what is bilary atresia?
progressive fibrosis and obliteration of extra and intra hepatic trees
= chronic liver failure in 2 years
what are the 3 types of biliary atresia?
T1: common bile duct atresia
T2: cystic duct atresia
T3: full atresia
Signs and symptoms of biliary atresia
obstructive jaundice
faltering growth
hepatosplenomegaly
NO vomiting
investigations in biliary atresia
USS: triangular cord sign
gold standard: TIBIDA isotope scan, ERCP+/- biopsy
management of complications in biliary atresia?
fat soluble vitamins
ursodeoxycholic acid
prophylactic antibiotics (to prevent cholangitis)
what gene mutation causes CAKUT?
PAX 2
renal causes of CAKUT
- multicystic kidneys
- medullary spongy kidney
- renal agenesis
- horseshoe kidney
what are the non-renal CAKUT?
PUJ obstruction
VUR
Bladder outlet obstruction
what is the anatomical cause of VUR?
ureters enter bladder perpendicularly
= shorter intramural course
when do you refer for undescended testes? treatment?
refer at 3m
medical: b-hCG
surgery: orchidopexy
diagnostic criteria of constipation
(2+ of)
- <3 complete stools a week
- hard, large, stool or rabbit droppings
- overflow soiling 1+ year
- distress, pain, bleeding associated with stool
GOR management if formula fed
- review feeding history
- trial smaller more frequent feeds
- trial of thickened formula
- trial of alginate therapy
- pharmacological
if you have persistent colic, what should you think?
cows milk protein allergy
reflux
what is Meckel’s Diverticulum?
ileal remnant of vitello-intestinal duct on anti-mesenteric border
Ix: Technetium scan
sign of Malrotation/volvulus and management
scaphoid abdomen
Mx: Ladd’s procedure
normal maintenance fluid in paeds
5% dextrose and 0.9% NaCl
neonatal fluid resus on day 0, 1 and 2
0: 60ml/kg/day
1: 90ml/kg/day
2. 120ml/kg/day
what is the nutritional management in Chron’s?
replace diet with whole protein molecular diet
excessively liquid for 6-8 weeks
support website for Chron’s/UC
www.chronsandcolitis.org.uk
what are the UC scoring systems?
Paediatric Ulcerative Colitis Activity Index (PUCAI)
Truelove and Witts
what disorder is co-existent with UC?
depression
what are the Hirschprung RFs?
Down’s
MEN 2a
del(Chr 10)
what makes up lactose? what happens in lactose intolerance?
lactose = glucose + galactose
lactose ferments in gut = increase waste gas, pain and bloating
what is the pathophysiology of an indirect inguinal hernia?
- each testicle creates a passage (process vaginalis) as it travels into scrotum
- failure of passage to close = abdo lining and bowel protrude through defect
what is the pathophysiology of an indirect inguinal hernia?
- each testicle creates a passage (process vaginalis) as it travels into scrotum
- failure of passage to close = abdo lining and bowel protrude through defectwhat
what is the pathophysiology of an indirect inguinal hernia?
- each testicle creates a passage (process vaginalis) as it travels into scrotum
- failure of passage to close = abdo lining and bowel protrude through defectwhat
what are the RFs for umbilical hernia?
Afro-Carribean
Down’s
Mucopolysaccharide disease
what are the features of poor prognosis in acute liver failure?
- shrinking liver
- rising bilirubin
- falling transaminases
- worsening coagulopathy
what are the management options of Wilson’s disease?
- zinc (blocks Cu resorption)
- pyrioxidine (vit B6 –> prevent peripheral neuropathy)
what is a long term consequence of polio?
massive respiratory problems
symptoms of typhoid fever
- splenomegaly
- bradycardia (sphygomothermic dissociation)
- rose spots
what are the symptoms of dengue fever?
headache (retro-orbital)
sunburn like rash
high fever
myalgia
what type of virus is mumps?
paramyxovirus
what type of virus is rubella?
togavirus
rubella vs measles
in rubella no koplik spots or conjunctivitis
what is the cause of ataxia telangiectasia?
- defective DNA repair
- inc risk of lymphoma
S/S of ataxic telangiectasia
cerebellar ataxia
developmental delay
telangiectasia in eyes
Wiskott-Aldrich S/S
eczema, recurrent infection, thrombocytopenia (WATER)
what is duncan disease?
inability to generate a normal response to EBV
what is included in the asthma bolus step?
1st line MgSO4 bolus
treatment of acute otitis media with perforation
oral amoxicillin 5 days
review in 6 weeks to ensure healing
treatment of acute otitis externa
topical drops of acetic acid and Abx (neomycin, clioquinol)
aspects of the CENTOR score
CETTA
- exudate/swelling on tonsils
- tender/swollen anterior cervical lymph nodes
- temperature >38
- cough absent
- age 3-14yo
genetics behind CF
CFTR
cAMP dependent chloride channel
chromosome 7
F508
tests for TB
manteaux test, IGRA test
rheumatic cases major criteria (CASES)
Carditis Arthritis Subcutaneous nodules Erythema marginatum Sydenham's Chorea
what are the minor cases in rheumatic cases (FRAPP)>
Fever Raised ESR Arthralgia Prolonged PR interval Previous RF
conservative measures for prevention of UTI
- high fluid intake
- ensure complete bladder emptying
- good perineal hygiene
- regular voiding
- treatment/prevention of constipation
when does phimosis mostly resolved?
4
what are the key features of hypospadias?
- ventral foramen
- hooded foreskin
- ventral curvature
what are the different AKI stages defined by serum creatinine?
- 1.5-1.9x sCr
- 2.0-2.9x sCr
- > 3 sCr
what are the different AKI stages based on Urine Output?
- <0.5ml/kg/hr 6-12 hours
- <0.5ml/kg/hr >12 hours
- <0.3ml/lg/hr >24 hours
what are the 3 types of non-proliferative glomerulonephritis?
- focal segmental (secondary to HIV/ Obesity)
- Membranous (primary, secondary due to SLE/drugs)
- Minimal change
which 2 non-proliferative can turn into proliferative
focal segmental and membranous
what are the 3 proliferative glomerulonephritis?
IgA nephropahty e.g. HSP
Membranoproliferative glomerulonephritis
Rapidly progressive (cresentric)
what are the 2 subtypes of rapidly progressive?
- vasculitic (granulomatosis with polyangiitis, microscopic polyangiitis)
- anti-GBM
what are the complications of nephrotic syndrome?
- risk of thrombosis
- risk of infection
- hypercholesterolaemia
treatment of intrinsic renal failure
high calorie, normal protein feed
decreases catabolism, uraemia and hyperkalaemia
what are the features of focal segmental glomerulonephritis?
- segmental scarring and foot process fusion
- HTN and impaired renal function
- older children
- 50% respond to steroids
what are the features of membranous nephropathy?
- widespread thickening
- granular deposits of Ig and complement
- adult
- Mx: supportive
complications of HSP
- intusseption
- pancreatitis
- ARF
- arthritis of knees
what are the associations of Wilm’s Tumour (Nephroblastoma)?
- Beckwith-Wiedemann syndrome
- WAGR syndrome
- 1/3 WT1 gene mutation on Chr 11
what mutation is associated with pilocystic astrocytoma?
BRAF
what are the focal signs of a supratentorial lesion?
- focal neurological deficits
- seizures
- personality change
what are the focal signs of subtentorial lesions?
- cerebellar ataxia
- long tract signs
- cranial nerve palsies
HL immunophenotyping?
CD30
CD15
diagnostic markers
HL treatment
ABVD +/- radiotherapy
NHL treatment
R-CHOP
Burkitt’s translocation
8;14 (c-myc)
how does osteosarcoma appear on X-ray?
soft tissues calcifications = sunburst appearance
elevated periosteum = “Codman’s triangle”
Ewings translocation
ewings vs osteosarcoma
t(11;22)
PAIN
retinoblastoma chromosome and gene mutation
Chr 13
encodes pRB
what is the blood disorder associated with Turner’s syndrome?
Haemophilia
What is the limit for Chronic ITP? What is the treatment?
after 6 months Tx: - mycophenolate mofetil - rituximab - elthrombag (TPO agonist) 2nd line: splenectomy
what chromosomes are the beta and alpha genes found on?
beta gene: Chr 11
alpha gene: Chr 16
what is the one of the first signs of SCD in children?
hand and foot syndrome (dactylitis)
what would be seen on a blood smear in SCD?
- sickle cells
- Howell-Jowell bodies (hyposplenism)
- nucleated RBCs
what are the options for chronic problems in SCD?
- hydroxycarbamide
- HSCT
what are the different categories of inherited metabolic disorders?
- aminoacidopathies e.g. PKU, G6PDD, homocystinuria
- urea cycle disorders e.g. Citrullaemia type 3
- organic acidaemias e.g. isovoleric acidaemia
- carbohydrate disorders e.g. galactosaemia
what are the different disorders of energy metabolism?
- mitochondrial disorders: Barth (birth), MELAS (5-15yo), Kearns-Sayre (12-30yo)
- fatty acid oxidation disorders e.g. MCADD
- glycogen storage disease (5 types, Von-Gierke’s, McArdle)
what are the disorders of complex organelles?
- lysosome storage disorders e.g. mucopolysaccharide, oligosaccharide
- peroxisomal disorders e.g. Zellweger syndrome
what is glutaric aciduria type 1 ?
- def: glutaryl-CoA dehydrogenase
- S/S: encephalopathy, macrocephaly
what is the management of glutaric aciduria type 1?
avoid fasting
low protein diet
L-carnitine supplement
what is a definition of isovaleric acidaemia?
def: isovaleryl-CoA dehydrogenase
S/S: metabolic acidosis, hyperammonaemia, cheesy sweaty smell
what is maple syrup urine disease?
def: alpha-ketoacid dehydrogenase
S/S: encephalopathy 1 week, sweet-smelling urine
management of maple syrup urine disease
low protein diet
what is Gaucher’s disease?
lysosomal storage disorder
def: beta-glucosidase
S/S of gaucher’s disease
hepatosplenomegaly, seizures
what is Tay-Sachs disease?
hexosaminidase A deficiency
S/S of Tay-Sachs disease
deaf blind progressive neurodegeneration
what is Von Gierke’s?
glucose cannot be liberated from glucose-6-phosphate
what is McArdle’s?
muscle cramps/ weakness after first few minutes then “second wind of energy”
S/S of glycogen storage disease
hypoglycaemia
lactic acidosis
neutropaenia
treatment of mild/moderate acne
- topical retinoid +/- BPO
- topical clindamycin +/- Clindamycin
- azelaic acid 20%
what is naevus flammeus and what distribution?
port-wine stain
trigeminal nerve distribution
what syndromes is infantile haemangioma associated with?
Kasabach-Merritt
PHACES syndrome
LUMBAR syndrome
what sign can be seen in congenital haemangioma?
transient thrombocytopaenia
what is erythema toxicum? how common is it?
50% newborns
maculo-paupular pustular lesions
features of 5 alpha reducatse deficiency
XY genotyope
increase testosterone at puberty virilises genitalia
S/S: ambiguous genitalia, internal male organs present
features of androgen sensitivity syndrome?
S/S: feminisation, no internal male or female organs
XY genotype
what is 21-hydroxylase deficiency (CAH)?
S/S: ambigious genitalia, salt losing crisis
XX genotype
what is 17 alpha-hydroxylase deficiency (CAH)?
S/S: feminisation, hypertensive
XY genotype
different DM diagnosis criteria
fasting >7.0mmol/L
random OGTT >11.1 mmol/L
HbA1c > 48 mmol/mol
what are the impaired glucose tolerance values?
- 1-7.0mmol/l fasting
7. 8-11.1 mmol/l OGTT
give examples of long acting insulin
glargine
determir
what can cause bilateral enlargement of GDPP?
GDPP (intracranial lesion)
what can cause unilateral enlargement?
gonadal tumour
what can cause small testes?
tumour or CAH (adrenal cause )
what should you measure if CAH is suspected?
urinary 17-OH progesterone
features of McCune-Albright Syndrome
- polyostotic fibrous dysplasia
- cafe au lait spots
- ovarian cysts
what are the signs and symptoms of hypochondroplasia?
small stature
micromelia (small extremities)
large head
what gene is involved in achondroplasia and hypochondroplasia?
FGFR3 gene
achondroplasia signs and symptoms
- short stature
- depression of nasal bridge
- marked lumbar lordosis
- large head, frontal bossing
- “trident hands”
X-ray findings in achondroplasia
metaphyseal irregularity (cheviron deformity) flaring in long bones
what are the unique features of congenital hypothyroidism?
coarse features
macroglossia
umbilical hernia
what are the different ways rickets can be caused by a phosphate deficiency?
- reduced phosphate intake
- renal tubular phosphate loss = hypophosphatemic rickets
- acquired hypophosphatemic rickets = Fanconi anaemia, RTA, nephrotoxic drugs
what are the features of rickets on X-ray?
- thickened and widened epiphysis
- cupping metaphysis
- bowing diaphysis
Ottawa ankle rule
X-ray only indicated if
1. Pain in malleolar zone
+ tenderness at posterior edge or tip of lateral malleolus or medial malleolus
+ inability to weight bear immediately or in A&E
2. Pain in midfoot zone
+ tenderness at base of fifth metatarsal/navicular
+ inability to weight bear immediately or in A&E
cause of OS disease
osteochondritis of patellar tendon insertion at knee
what is chondromalacia patellae
degeneration of articular cartilage on posterior surface of patella
Still’s disease management
- MDT rheumatology
- NSAIDs/ corticosteroids
- DMARDs
- TNFalpha instability
what is SUFE?
displacement of epiphysis of femoral head postero-inferiorly
treat to prevent avascular necrosis
AP and frog leg X-ray needed
S/S of DDH
- abnormal gait
- delayed crawling
- asymmetrical skin folds
- limb length discrepancy (Galeazzi sign)
cause of reflex anoxic seizures
cardiac asystole due to vagal inhibition
definition of a seizure
transient occurrence due to abnormal excessive or synchronous activity in brain
epilepsy definition
international league against epilepsy 2017
3 types of myoclonic seizures
3-12yo: benign rolandic
12-18yo: Juvenile myoclonic epilepsy
progressive myoclonic
features of benign rolandic
face/ upper limb in sleep
associated with hypersalivation
features of juvenile myoclonic epilepsy
upper body after waking
features of progressive myoclonic
myoclonic and tonic clonic
deterioration over time
things to remember about anti-epileptic drugs
only carbamazepine needs monitoring
discontinued after 2 years no seizure
types of generalised seizures and treatment
tonic clonic
absence
myoclonic
treat with valproate
treatment of focal seizures
carbamazepine, lamotrigine
SEs of carbamazepine and lamotrigine
carbamazepine: rash, neutropaenia
lamotrigine: SJS
management of status epilepticus
- lorazepam IV/IO or Midazolam buccal
- lorazepam IV/IO
- Phenytoin
features of infantile spasm (West Syndrome)
sudden rapid contraction of trunk and limb muscles
5-10 seconds
delay (psychomotor and growth)
hypsarrhythmia
grades of intraventricular haemorrhage
- bleeding just into germinal matrix
- intraventricular bleeding (no enlargement)
- intraventricular bleeding with enlarged ventricles
- bleeding extends into brain tissue around ventricles
features of periventricular leukomalacia (PVL)
bilateral multiple cysts
periventricular white matter damage
80-90% risk of spastic diplegia (CP)
aetiology of IVH
changes in perfusion of delicate cellular structures in growing brain
- ECMO
- congenital CMV
Mx of IVH
- fluid resus
- anticonvulsant
- acetazolamide (reduce CSF)
- ventriculo-periotoneal shunt (if hydrocephalus )
what is communicating hydrocephalus?
flow of CSF obstructed after it exits ventricles
(failure to resorb CSF)
e.g. meningitis, SAH
what is non-communicating hydrocephalus?
flow of CSF obstructed within ventricles = aqueduct stenosis
e.g. Chiari, IVH, tumour
treatment of Tic
habit reversal therapy
ERP
Pathophysiology of DMD
deletion of dystrophin gene –> connects cytoskeleton to muscle fibres to ECM
= myofibre necrosis
what is the genetic defect in myotonic dystrophy?
trinucleotide repeat disorder
what muscles does myotonic dystrophy affect?
smaller muscles > larger
what is the mutation in tuberous sclerosis ?
TSC1 or 2
neuro features of tuberous sclerosis
infantile spasm
development delay
epilepsy
intellectual disability
what is hypermetropia?
can see long distance
what is the pathophysiology of retinopathy of prematurity?
vascular proliferation
retinal detachment
fibrosis
blindess
what are the RFs for SIDS
front sleeping baby prematurity LBW male maternal smoking
