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Short cases Flashcards

1
Q

Short stature

A 
Introduce
Wash hands
General Inspection with adequate exposure
•	Dysmorphic
•	Disproportionate stature
•	Tanner staging
•	Nutritional status
•	Skeletal abnormalities
•	Colour/inc RR/Skin

Measurements and manoeuvres:
A) MEASUREMENTS:
Height
Lower Segment from pubic symphysis
Calculate Upper segment (Ht-LS)
US:LS Birth 1.7, 3yrs 1.3, 8+ yrs 1.0
If high = short lower limbs (skeletal dysplasias, ↓Th)
If low = short trunk (vertebral irradiation, scoliosis) or a short
Neck (Klippel Feil syndrome)
Arm span 0-7 -3cms, 8-12yrs 0, 14yrs +1 in ♀
HC
Weight
Plot on Centile chart
Ask for birth measurements
Ask for parental percentiles and ages at puberty

B) HANDS AND FEET TOGETHER:
Asymmetry (Russell-Silver)
Approximation of shoulders (absent clavicles in cleidocranial dysostosis)

C) ARMS OUT STRAIGHT:
Cubitus valgus in Turner’s and Noonan’s >15˚ in ♀ and >10˚ in ♂

D) THUMBS ON SHOULDERS:
Proximal segment shortening – achondroplasia, hypochondroplasia
Middle segment shortening
Distal segment shortening – acromesomelic dysplasia

E) PALMS UP:
Simian Crease – T21, Seckel’s
Clinodactyly - Russell-Silver, T21, Seckel’s

F) MAKE A FIST:
Short 4th metacarpal – 45XO, FAS, Pseudohypoparathyroidism

G) BACK:
Short neck - Klippel-Feil, Noonan’s
Web neck - 45XO, Noonan’s
Low hairline - 45XO, Noonan’s, Klippel-Feil

H) TOUCH TOES:
Scoliosis - Noonan’s, Klippel-Feil

SYSTEMATIC EXAMINATION:

Investigations:
Blood:
FBC and Film			Ch disease, anaemia
ESR				IBD
U+E’s, Cr			Ch renal disease
Fasting Glc			DM
Ca, PO4, Alk Phos		Ricketts, hypophosphatasia
LFT’s				CLD, nutritional deficiency
TTG Abs			Coeliac
Pancreatic isoamylase		Shwachman’s
TFTs, TSH			Hypothyroidism
Karyotype			45Xo, T21
Somatomedin C	Decreased GH def, coeliac, Crohn’s, malnutrition, DM (poorly controlled)
GH stimulation tests 	GH deficiency
     (insulin, GHRH, exercise, Clonidine)	
LH, FSH, prolactin, 	Hypogonadism
     oestradiol, testosterone
Dex Suppression Test	Cushing’s syndrome

Sweat:
Sweat conductivity CF

Imaging:
Bone age			Maturational delay, precocious puberty, ↓Th, ↓pit
Skeletal survey		Skeletal dysplasias
Skull X/R			Craniopharyngioma
CT/MRI Brain			Intracranial tumour
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2
Q

Bronchiectasis 7 causes

A 
CF
REcurrent infections / aspiration
Severe pneumonia / infection (adenovirus) 
Immune deficiency 
PCD
Foreign body
Congenital anomaly
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3
Q

Steroid side effects

MEDICHOG

A 
Myopathy
Eyes - cataracts
Diabetes
Immune suppression
Cushingoid
Hypertension
Obesity / Osteoporosis
Growth suppression
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4
Q

Ataxia Ddx

A

Cerebellar

  • Malformation (dandywalker)
  • infection
  • tumour
  • cerebrovascular event
  • Degenerative / demyelinating disease

Vestibular - labyrinthitis

Peripheral neuropathy - HSMN ; B12/folate def
Ataxia telangiectasia
Friedreichs ataxia
Guillan barre
Hypothyroid

Examine
Gait, upper and lower limb neuro
Eyes, speech ; ears
Abdo

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5
Q

Cafe au lait Ddx

A 
NF1
Fanconi anaemia
Russel silver
Noonans / LEOPARD
Bloom syndrome
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6
Q

Short stature exam

A

Inspection - dysmorphic, proportional, nutritional, evidence of chronic disease

Growth parameters
US:LS measurement
Arm span

Manoeuvres
Hands together
Hand out - carrying angle
thumbs to shoulder
palms up and palms down
make a fist
hands out
inspect back, touch toes

Mention
Symmetrical / asymmetrical
syndromal or not
pubertal status

Inx
Bone age
Karyotype / microarray
Screen for chronic disease
Endocrine screen - IGF1, GH stim ; TFT ; LH/FSH, prolactin, ACTH, Dex supposed
? skeletal survey
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7
Q

short stature clues to diagnosis

A

IS NICE

Syndromic

  • normal weight: Turners, Noonans, Russel silver, Kallman
  • Fat: PWS, T21, Bardet Biedl, Alstrom

Disproportionate short stature

  • Skeletal dysplasia
  • short limbs: achondroplasia
  • short neck/spine: Klippel feel, OI, scoliosis, RT

Short but thin - think chronic disease
1. Idiopathic: Constitutional or familial short
2. Intrauterine: TORCH, SGA, FASD
3. Nutritional: Deprivation or malabsoprtion
4, Iatrogenic: Radiation
5, Chronic disease: CKD, CF, IBD, malig
6. Psychological: AN

Short and fat
1. Endocrine: Hypothyroid, Hypopit, Cushing, PseudohypoPTH
2, Steroids

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8
Q

Short stature Ddx

IS NICES

A

Idiopathic - familial / constutional
Skeletal - dysplasia, scoloisis
Nutrition
Iatrogenic - steroids, radiation
Chronic disease - CF, coeliac, cardiac, renal, IBD
Endocrine - Hypothyroid, hypo pit, GH def, PseudohypoPTH, cushings ; delayed/precoc puberty
Syndromic - turner, Noonan, PWS, T21, FASD, russel silver

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9
Q

Tall stature Ddx

FES

A

Familial - constitutional or obesity

Endocrine: Hyperthyroid, precocious puberty (central/peripheral), Pituitary gigantism

Syndromic
- Marfans, NF1, Homocytinuria, Sotos, Klinefelters, BWS, Kallmans

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10
Q

Causes of obesity

A
  1. Nutrition
  2. Endocrine - Cushing, hypothalamic, hypothyroid
  3. Syndromic: PWS, Bardet bide, Altrom, Kallman, klinefelter
  4. Steroid induced
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11
Q

Complications of obesity

A 
Low mood / bullying
HTN/Dyslipidemia/T2DM (metabolic)
OSA
SUFE
Fatty liver
Precocious puberty
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12
Q

Causes of a goitre

A
  1. Autoimmune thyroiditis
  2. Graves disease
  3. Simple goitre (normal TFTs and no Abs)
  4. Hyperplasia
  5. Diffuse nodular non toxic goitre
  6. Subacute thyroiditis
  7. Malignancy
  8. Infiltration

Most common worldwide is endemic goitre secondary to iodine deficiency

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13
Q

Short stature investigations

A

Bone age

Screen for chronic disease - FBC, U&E, LFTs, TFTs, HbA1c, coeliac serology ; ESR, CRP
IGF-1 and GH stimulation test
Endo: LH/FSH/testosterone/oestradiol
? ACTH / dex supp test
Urine P:Cr ration
Stool: calprotectin, steatocrit
Sweat test

Genetics: microarray or karyotype

Skeletal survey if ? skeletal dysplasia

MRI brain

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14
Q

Tall stature investigations

A 
Bone age XR (precocious puberty)
Urine methionine (homocystinuria)
Karyotype / gene panel
ECHO
Bloods: TFTs, Renal, LFT, FBC, prolactin/LH/FSH/ACTH
MRI brain

Bone XR ? osseous dysplasia (McCune Albright)

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15
Q

ejection systolic murmur LUSE

A

RVOT - subvalvular/valvular(noonans has dysplastic valve) / supravalvular (Williams ; branch PAS Alagille) - all heard loudest LUSE radiating to back (branch stenosis to axilla)

If to/fro murmur suggestive PR (post TOF repair)

PS - radiates to back ; RVH ECG (RBBB if TOF)
ASD - fixed splitting S2 ; RBBB (RSR) ECG
AVSD - superior axis

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16
Q

ejection systolic murmur RUSE

A

LVOT - subvalvular(HOCM), valvular, supravalvular(williams) ; distal (aortic arch obstruction, radiation to back (inter scapular). Loudest RUSE radiates to neck

AS - radiates carotids
- supravalvular/valvular/subvalvular
- suprasternal thrill
ECG LVH +/- strain

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17
Q

Holosystolic murmur

A

Apex
- MR (congenital, acquired - post RHD, DCM/ALCAPA)
ECG bifid p waves, LVH

LLSE
- VSD (biventricular hypertrophy ; canal VSD assoc w/ AR)
- coarctation
RLSE - TR/ebsteins

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18
Q

Continuous

A

PDA (bounding pulses) - loudest left infraclavicular ; if large can be associated with heart failure.
ECG LVH or wide bifid p waves

BT shunt (look for scar)

Ddx

  • venous hum (turn neck, goes away)
  • Aortopulmonary window
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19
Q

Diastolic murmurs

A

LSE -relative TS in ASD(mid diastolic)

Apex - relative MS in VSD (mid diastolic)

LUSE PR post PS/RVOT surgery
- post tet repair

RUSE - AR ( congenital associated with bicuspid AV, turners, conal CCSD ; Acquired - RHD, post op) ; severity associated with collapsing pulses and wide pulse pressure.

rate out of 4

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20
Q

Cardiac scars

A

Midline sternotomy

  • Cardiac transplant
  • complex cardiac lesion
  • valve replacement

Lateral thoracotomy

  • Shunt surgery or PDA closure
  • PA banding
  • ASD/VSD closure
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21
Q

Dextrocardia ECG

A

q waves in I and AVL
Large R waves V2,V3
R wave regression

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22
Q

Cause of hepatomegaly

SHIRT x 2

A

Structural - biliary atresia, choledochal cyst, Alagilles (bile duct paucity)

Storage : metabolic (Gaucher, nieman pick, GSD) Wilsons, A1AT, CF

Haematoligical - thalassemia, SCD, leukaemia ; NHL
Heart - CCF (R sided F)

Infection - Viral: CMV/EBV, hepatitis ;
Inflamm - IBD, hepatitis
Infiltrative - LCH, sarcoidosis

Rheum - sJIA, SLE

Tumours
Hepatoblastoma, HCC

Trauma - haematoma

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23
Q

SPLENOMEGALY

HIP

A

Haematological - HS(AS); G6PD (XLR)
Infective - SBE, Typhoid
Portal HTN

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24
Q

Heptosplenomegaly Ddx

CHIMPS

A 
Connective tissue - SLE, JIA
Haem: Thalassemia, Sickle cell, leukaemia, lymphoma
Infection - CMV/EBV/Hepatitis
Metabolic - Gaucher, pieman pick
Portal HTN
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25
Q

Enlarged kidney

CHARTS

A 
Cystic (ADPKD, ARPKD)
Hydronephrosis
Adrenal
Renal V thombosis
Tumour - wilms, neuroblastoma, RCC
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26
Q

Clubbing differential

A

Cardiac - cyanotic
Resp: Suppurative lung disease - CF, bronchiectasis
Gastro - CLD, IBD
Thryoid - acropachy (hyperthyroid)

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27
Q

Portal HTN

A

Splenomegaly
Portosystemic shunts - varices, haemorrhoids, caput medusae
Ascites, low albumin

Causes

  • Pre hepatic- portal V thrombosis
  • Heptatic: cirrhosis, A1AT, CF, Biliary atresia, neonatal hepatitis, VOD
  • Post hepatic: Budd chiari (hepatic V obstruction), constrictive pericarditis
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28
Q

Bronchiectasis - 7 causes

A 
CF
Recurrent infections/aspirations
Severe pneumonia (TB, adenovirus)
Immune deficiency
Primary ciliary dyskinesia
Foreign body
Congenital airway anomaly
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29
Q

Cerebellar exam

DANISH

A 
Dysdiadokinesis
Ataxia
Nystagmus
Intention tremor / past pointing
Speech
Hypotonia

Cerebellar signs are ipsilateral to side of lesion

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30
Q

Hemihypertrophy

Ddx and exam

A

simple - unilateral enlargement of one limb
complex- 1/2 body enlarged

  • Beckwith - Wiedman
  • Russel silver (hemihypoplasia)
  • Klippel - trenaunay weber (triad of vascular malformation - venous malformation, abnormal lymphatics, - more localised)
  • NF1
  • Isolated hemiherplasia - assoc wilms
  • Proteus syndrome

Exam
Look for birthmarks, vascular malformation, CALM
Growth (short -RSS, tall - BWS)
Associated tumours - Wilms, hepatoblastoma, gonadal, neuroblastoma (with BWS)
Neuro - hemiatrophy in hemiplegic CP ; Gait

Hands and feet together, touch toes (scoliosis), palms exposed. Check growth, HC, weight, BP

BWS

  • overgrowth, methylation defect 11p15.5
  • macroglossia, hemihypertophy, omphalocoele, hypoglycemia (secondary hypperinsulinism)
  • Naevus flammus forehead, abnormal ear helix and crease. Cardiomegaly
  • Risk tumours (films, hepatoblastoma, GCT, neuroblastoma)
  • US surveillance every 3/12 until 8 in high risk

RSS
- small stature, triangular face, apparent macrocephaly, blue sclera, 5th finger clinodactyly, hemiatrophy
Risk Wilms ; UPD Ch7 in 10%
Cafe au lait macules

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31
Q

Oncology long case

A

Hx diagnosis - initial symptoms, treatment, complications of treatment ; parents attitude to diagnosis

Parental understanding of prognosis
Impact on family, siblings, marriage, finances

Current status

  • how long post treatment ; central line
  • complications - infections, anaemia
  • prophylaxis and compliance ; mouth cares
  • SE from treatment
  • Infections : VZIG within 96hours VZV, IVIG for measles
  • Impact ADL
  • Growth and development
  • School
  • Immunisation status, any immumnosuppresives

Late effects and GVHD

Late effects

  • short stature (RT, hypo pit, hypothyroid)
  • Eyes - cataracts (TBI, steroid)
  • Ears - hearing impairment (RT, cisplat, gentamicin)
  • Steroid SE and metabolic syndrome
  • Psychological - mood, memory, attention, IQ
  • Puberty
  • Fertility - any fertility preserving measures
  • Cardiac (anthracyclines, RT ; use dexrozoxane ; regular ECHO)
  • Bone health
  • Peripheral neuropathy (vincristine)
  • Secondary tumours - RT, alkylating agents, etoposide

Social issues, school issues

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32
Q

Hypopituitary causes

A

Congenital
- midline defect (holoprosencephaly),
-SOD (sept-optic dysplasia) - triad of 1. optic nerve hypoplasia, 2. pituitary hypoplasia, 3. midline brain abnormalities (absent septum pellucid and agenesis corpus callosum).
Mostly sporadic ; Neuro compl, endo comp
wandering nystagmus, visual impoairment
Assoc obesity, temp instability, OSA, ASD
- genetic (CHARGE - CHD7 mutation, PROP1 mutation, Kallman)

Later / acquired
- craniopharyngioma: triad 1. endocrine hypofunction - (growth F, hypothyroid, DI), 2. eyes (bitemporal hemianopia), 3. headache
Rx transphenoidal surgery, RT (become panhypopit post Rx)
- cranial RT, (affects anterior pit)
- trauma (TBI)

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33
Q

Hypopit Hx

A
  • Diagnosis, complications, treatment
  • cognition, development and school
  • growth and puberty
  • learning / behaviour issues
  • Vision
  • Neuro symptoms (SOD, holopros)
    symptom screen for each pituitary hormone
Impact
Education, treatment
Management Hypos
Emergency steroid plan, stress dose
 - IV hydrocortisone, IV fluid bolus + IV dextrose
- increase steroid if taking P450 inducers and during pregnancy
Management DI (DDAVP, monitor Na)
Puberty and growth
 - GH treatment
- Pubertal induction treatment
males testosterone IM monthly
girls - oestrogen
Micropenis treat with testosterone

Rx with glucocorticoids before thyroxine (risk causing adrenal crisis)

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34
Q

T21 long case

A

Prenatal screening (detects cell free fetal DNA/RNA in maternal blood)
non disjunction trisomy 21 in 95% ;
3-4% Ch 14/21 translocation (robertsonian) - recurrence risk 12% if mum carrier, 1% if dad carrier
2% mosaic

Hx
Diagnosis, symptoms at birth, initial issues (Resp, feeding, CVS), any gut/surgical issues
Initial investigations ; genetic counselling; Karyotype
Treatments: Surgical / medical
Hospitalisations / complications
Impact on child - school, ADLs, school funding
Impact family - financial, further kids, guardianship

Cardiac - 30-50% cardiac issues. ECHO birth + 6 weeks
AVSD (45%), VSD (35%), ASD PDA, TOF
Echo ; risk of pulmonary HTN ++ (early surgical repair)
If unrepaired CHD - risk CVA and brain abscess.
Adults may get mitral valve prolapse and AR even if no history CHD

Subtle immune deficiency - recurrent URTI/LRTI
Predisposed to autoimmune conditions
- hypothyroidism (15% DS) ; congenital hypothyroid 1/140
- coeliac disease (5-7%)
- DM, malignancies (leukaemia)
Chronic OME, dental issues

Joint and MSK issues
15% AAI due to excessive mobility of C1 on C2, only 2% symptomatic as result subluxation / cord compression - neck pain, new continence issues, difficulty walking/weakness
Hip instability 1-7%
Foot issues

Hearing - 50-80% hearing loss, CHL, SNHL, mixed
chronic OME ++ common, grommets, T/As
SLT for hearing aids

Eyes/vision
50% ocular impairment - refractive errors, strabismus, nystagmus, cataracts.

Cognition and development
delay gross motor milestones due to hypotonia and joint laxity, average walking 2-4years
Most have mild (IQ50-70) - Mod (35-50) ID (average developmental age 5.5)
Language milestones slower to develop than others

Neurodevelopmental issues
ADHD (6%), Aggressive / oppositional behaviour
ASD dual diagnosis (7%)
seizures (8% - 2 peaks, 1st year life, in 20s)
75% alzheimers by >60yrs
Depression (outrule hypothyroid)

Growth and weight
High risk obesity
Dental
Hypothyroid

Haematological
- Neonates - polycythemia and macrocytosis
- transient myeloprolif in 10% (regress by 2-3months, mutation GATA1, 20% with TAS will develop AML in first 4 years life
-Leukaemia (15-20x increased risk)
AML and ALL (1/300) - better outcome for AML in DS
Chemo sensitive, dose reduce

GI - 7% GI defects ; Hirscsprung, duodenal atresia
Coeliac

Skin - palmoplantar hyperkeratosis 40%
Adolescents 50% keratosis pillars (follicular rash)
fungal skin infections

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35
Q

ECG criteria for LVH and RVH

54321 rule

A

RVH
RV1: >5squares <1mo ; >4squares <1year ; >3squares >1yo
SV6: >3sq <1mo ; >2sq <1yo ; >1sq >1yo

Also RAD, upright T V1 ; qR V1

LVH:
RV6: >3sq <1mo, >4sq <1yo, >5sq>1yo
SV1: >1sq <1mo, >2sq <1yo ; >3sq>1yo

Also LAD, flat/inverted T waves I/AVF

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36
Q

Complications CHD

A

Cyanosis - growth/puberty/acne/exercise
Complications surgery
- shunts: malfunction, protein losing enteropathy (Fontana)
- Stenosis / regurgitation / CHF / heart block
- Operative issues: RLN palsy, Horners, diaphragm issues
CNS complications - stroke (SBE/post op/ polycthemia)
Drug complications: Anticoags

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37
Q

COMPLICATIONS FONTAN

A

Chylothorax and pleural effusions
Protein losing enteropathy
Stroke
Cerebral abscess

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38
Q

Ataxia Ddx

A
  1. Cerebellar
    Congenital:
    - Structural: Dandy walker malformation, chair
    - spinocerebellar degenerative: AT, FA(Freidreichs ataxia)
    - Metabolic ; other degenerate

Acquired

  • Infectious; Acute cerebellar ataxia (post VZV) ; Miller fisher GBS
  • Toxins: Alcohol, phenytoin
  • Tumours: Medulloblastoma, neuroblastoma
  • Stroke / migraine / seizures
  1. Vestibular: acute labyrinthitis (middle ear infection)
  2. Posterior column loss
    - Subacute combined degenerative cord (B12 def ; absent ankle jerk, dorsal column loss)
    - Ataxia telangiectasia
    - DM, hypothyroid
4. Peripheral neuropathy (DAM IT BICH)
Drugs (vincristine) ; Alcohol
Metabolic (DM, CRF)
Infective (GBS), tumour, B12 def ; Idiopathic
CTD (SLE), Hereditary (HSMN)
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39
Q

Gait short exam

A

Observation
Looks at shoes - any wearing, any AFOs

Inspection legs (WANGP)
wasting/fascicultations ; 
abnormal movements ; 
neurocutaneous stigmata, 
growth arrest, 
posturing

Any deformities or scars
Spine for scoliosis and scars

Review gait
walk normal, heel to toe ; turn quickly
walk on toes(S1) ; walk on heel(L5)
FOG test (unmask hemiplegia)
Run
Squat

Romberg - +ve eyes open - cerebellar ;
+ve eyes closed (propricoptive loss)
Check for pronator drift

Squatting, towers, leg length discrepancy

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40
Q

Clubbing Ddx

A

Cardiac - cyanotic cardiac disease
Resp - suppurative lung disease (CF, bronchiectasis, PCD)
GI - CLD, IBD
Thyroid - thyroid acropachy (hyperthyroid)

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41
Q

Complications splenomegaly

A

hypersplenism - thrombocytopenia
function asplenism - susceptible encapsulated organisms
splenic infarction (SCD) - painful
Early satiety / reduced appetite

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42
Q

NF1 diagnosis criteria

CALNOP

A 
Cafe au lait >6 
Axillary/inguinal freckling
Lisch nodules (2+) / Long bone dysplasia
Neurofibromas (2+)
Optic pathway glioma
Plexiform neurofibroma (1+)

Others
First degree relative
Distinctive osseous besoin - sphenoid wing dysplasia

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43
Q

Short case NF1

A

Complications

  • Skin CAL
  • Tumours - optic glioma, plexiform neuro (MPNST)
  • bones - dysplasia , scoliosis
  • Growth - short stature, macrocephaly, precocious puberty
  • Seizures
  • HTN (idiopathic, renal artery stenosis, phaeo)
  • Developmental delay
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Perfectly
44
Q

eye exam short

A

Inspection - front/above/side
- any neurocutaneous stigmata, HC, dysmorphic, ptosis (congenital vs acquired)
Lids/iris / lens - glaucoma/cataract
Squint
- Heterophoria (latent squint - when tired)
- Heterotropia ( permanent squint)
- ESO (convergent), EXO (divergent)
- Paralytic ( related to issue EOM weakness/CN palsy)
- non paralytic
If concern hyperthyroidism - lid lag

Visual acuity - infant toy, preschool E chart, school - snellen
External eye movements
Ptosis
Visual fields
 - bitemporal hemianopia - pituitary / optic chiasm
- homonymous hemianopia - optic tract
- upper quadrant - temporal
- Lower quadrant - parietal
Convergence
Pupils and Pupillary reflex
Fundoscopy / red reflex
45
Q

Gait exam short

A 
Inspection ; 
- spine/scoliosis
- asymmetry /hemihypertropyh / leg length discrep
Gait
 - normal
- heel-toe (from 5 yrs)
- up on toes (S1)
- up on heels (L5)
FOG test (walk outside of feet) - unmask hemiplegia
Run
Rombergs
- eyes open (cerebellar)
- eyes closed (posterior column)
Squat (prox weakness) / Gowers
Neuro exam
46
Q

Internuclear ophthalmoplegia

A

impairment of lateral conjugate gaze ; get failure of adduction in affected eye and contralateral eye abducts with nystagmus

if right eye affected, get diplopia on looking left
Caused by lesion in medial longitudinal fasciculus
Seen in MS, stroke

47
Q

Ptosis Ddx

A

impairment of levator palpebral superioris

Horners (ptosis/meiosis/annhydrosis)
Large pupil - CN3 palsy (tumour, vasc, MS)
bilateral with fatigue - NMJ disorder (MG)

48
Q

Bilateral facial weakness Ddx

A 
Brainstem - vascular, tumour, möbius, demyelination
Posterior fossa - acoustic neuroma
Cranial nerve - GBS, bells, Ramsay hunt
NMJ - MG, botulinism
Muscle - MD, FSHD, myopathy

Moebius - CN 6 and 7 palsy

CN palsy investigations - MRI brain/spine ; LP

49
Q

NF1 diagnostic criteria

CALNOPOF

A

2+ of the below

  1. CAL macules (6 or more) >5mm prepubertal or >15mm post pubertal
  2. Axillary or inguinal freckling (age 5-8)
  3. Lisch nodules (2+, usually appear 5-10years ; all adults)
  4. Neurofibroma (2+) or 1+plexiform neurofibroma
  5. Optic Pathway glioma (15-20% NF1, mostly <7years ; most asymptomatic, Rx chemo Carboplat and vinc)
  6. Plexiform neurofibroma - seen 50%, (risk progression to MPNST)
  7. distinctive Osseous lesion - sphenoid wing dysplasia, long bone bowing with pseudoarthosis
  8. First degree relative with NF1

Genetics - Autosomal dominant ; Ch 17q11.2 ; germline mutation in NF1 suppressor gene, codes for neurofibrin (negative regulator of RAS protoncogene - controls cell growth)
1:3500 people
50% patients have no family history (de novo)
Clinical diagnosis, rarely need genetic diagnosis

Complete gene deletion - poorer prognosis

50
Q

Complications NF1

A
  1. Tumours
  2. Hypertension - renal vascular disease, renal artery stenosis Coarctation, phaeo
  3. Scoliosis - appears 6-10yrs
  4. MPNST - adolesence (PET scan), 10%
  5. Malignancy risk (7xleukaemia risk,
  6. Pulmonary valve stenosis
  7. Vasculopathy - moyamoa
  8. IQ and behaviour - 30% ASD features,
51
Q

NF1 long

A

Hx - cognition and development ; speech/hearing
School Hx ; behaviour
Vision / opthal reviews
Growth and centiles, puberty. Asymmetry (whole gene)
Neurofibromas and Rx ; skin
MSK - bone, scoliosis
HTN - cause and Rx ; vasculopathy / Neuro symptoms
Cardiac - PS, HOCM

Monitoring
Skin
Vision - OPG highest risk <6 ; 15% have OPG
Learning and behaviour, development
Self esteem
Scoliosis and osetoporosis
HTN - renal US and 24hr urine catecholamine
Genetic counselling (AD)
52
Q

Sturge weber

A

Somatic mutation GNAQ, gain function mutation
Triad - PWS V1, leptomeningeal angiomas, glaucoma

Complications
Stroke like episodes / hemiplegia
Epilepsy, developmental delay
Glaucoma (2/3 have congenital glaucoma) - risk lifelong, 
Cognitive impairment in 80% (50% ID)
Behaviour and emotional issues
Migraines / headaches
Body asymmetry  - hemihyperplasia (overlap with KTW)
Endo: central hypothyroid, GH deficiency
Mx
Seizures - AED
PWS - pulsed dye laser
Aspirin to reduce risk stroke 
Glaucoma Rx
53
Q

Tuberous sclerosis aetiology

A

Multisystem disorder, characterised by tumor like growths (hamartomas) in multiple organs
• Incidence: 1 in 5800
• Dominantly transmitted ; High incidence of spontaneous new mutations (up to 75%)
Two genes associated
• TSC1 – 9q34 – hamartin (20%)
• TSC2 – 16p13 – tuberin (60%)
• TSC2 more severe phenotype but considerable overlap

Loss MTOR inhibition - cell growth/proliferation

54
Q

TS surveillance

A

• Genetics: Genetic testing and family counseling

• Brain
– SEGA monitoring
• MRI of brain every 1-3 years in asymptomatic <25y
• Those with large/growing SEGA more freq
• Educate re signs of raised ICP
• Surgical resection for acutely symptomatic SEGA
• Surgical or Medical treatment (mTOR inhbitors) for growing but asymptomatic SEGA

– Screen for TSC associated neuropsychiatric disorders
• Implement evidenced based management for autism/ADHD/anxiety
• Sudden change in behaviour think SEGA/seizure/renal disease

– Epilepsy
• Obtain routine EEG in all with known or suspected seizures. Vigabatrin first-line for spasms
• Established antiepileptics as per epilepsy of any cause for other seizure types
• Epilepsy surgery should be considered for medically refractory epilepsy

• Kidney
– Obtain MRI abdomen to assess for progression of angiomyolipomas and renal cystic disease every 1-3 years
– Assess renal function and BP annually
– Embolisation followed by corticosteroids first line for angiomyolipoma presenting with acute haemorrhage. Avoid nephrectomy.
– Asymptomatic, growing angiomyolipoma >3cm treat with mTOR inhibitor, selective embolisation second line

• Lung
– Clinical screening for LAM (exertional dyspnea)
– Lung function tests and 6 minute walk test for females 18y+, males if symptomatic
– Counsel regarding smoking and estrogen risks
– HRCT every 5-10 years in asymptomatic
– Those with lung cysts – annual pulmonary function and HRCT 2-3 yearly
– mTOR inhibitors for mod-severe lung disease or rapid progression
– Are candidates for lung transplant

• Skin
– Exam annually
– Disfiguring lesions Rx with surgical excision/ laser/topical mTOR inhibitors

• Teeth
– Detailed dental review every six months
– Panoramic radiographs by 7 years
– Symptomatic / deforming lesions treated

• Heart
– ECHO every 1-3 years until regression documented
– ECG every 3-5 years

• Eyes
– Annual eye exam in those with identified lesions or visual symptoms at baseline
– Periodic examination if on Vigabatrin treatment

55
Q

Diagnostic criteria TS

A

Genetic diagnosis
Clinical diagnosis - 2 major or 1 major and 2 minor

Major criteria
4 brain  
- SEGA, 
- SENA, 
- cortical dysplasia
-multiple retinal hamartomas
4 skin - SHAU 
- Shagreen ptaches (50%, first decade)
- hypomelanocytic macule >3 which are >5mm - birth on
- Angiofibromas >3 (age 2-5yrs, >75%)
- Ungal fibroma >2 (adolescence)
3 others - lung/heart/kidney
- LAM - women in 30s, HRCT and 6min walk test
- Renal Angiomyolipoma
- Cardiac rhabdomyomas
Minor
• Confetti skin lesions
• Dental pits (>3)
• Gingival fibromas (≥2)
• Retinal achromic patch
• Multiple renal cysts
• Non-renal hamartomas
56
Q

Hx in TS

A 
Diagnosis, genetics
Seizures
Cognition, learning
Development
Behaviour
Cardiac
Eyes / Lung / Renal
If on Vigabatrin need eye screen
SE Everolimus - elevated cholesterol & TG, transaminitis, leucopenia. Therapeutic monitoring
Interacts with AEDS - P450 inducers (carbamazepine) decrease levels.
57
Q

NF1 annual surveillance

A

Parents must be examined and educated regarding risk to future pregnancies

Age 0–8 years:
• Annual examination for long bone bowing, asymmetry, scoliosis, hypertension
• Developmental, growth and head circumference assessment
• Annual pediatric ophthalmologist examination

Age 8–15 years:
• Examination looking for scoliosis, limb asymmetry, neurofibromas
• Review school performance looking for learning disabilities and
attention deficit and psychosocial evaluation
• Discuss NF and the affect of puberty on NF

Age 16–21 years:
• Examination for neurofibromas. Imaging studies to evaluate any complaints of pain
• Review knowledge of NF, school performance, socialization, and self-esteem
• Discuss inheritance of NF1, and risk for pregnancy
• Discuss the effects of puberty, pregnancy, and birth control pills
on NF

Age >21 years:
• Examination, blood pressure check
• Imaging studies to evaluate any complaint of pain
• Discuss cutaneous neurofibromas, pain, and the risk of cancer
• Discuss socialization, and career/jobs

58
Q

Ataxia telangiectasia

A

AR, mutation ATM gene
AFP raised

  • Ataxia / cerebellar dysfunction (onset usually 1-4yrs)
  • Oculomotor apraxia
  • Telangiectasias: Sclerae & sun-exposed area’s such as ears and nose (age 3-10)
  • Primary Immune Deficiency
    ▪ Sinopulmonary infections
    ▪ Pulmonary Disease: Bronchiectasis and ILD
  • Cancer Predisposition
    ▪ Leukaemia (T-cell ALL and T-PLL) and lymphoma
  • Insulin-resistant diabetes
59
Q

Nystagmus short

A

Unilateral nystagmus - Needs MRI to outrun tumour

INO - failure adduction affected eye with nystagmus of abducting eye. Due to pathology in brainstem affecting medial longitudinal fasciculus

Describe

  • Pendular (same velocity each direction)
  • Jerk (quicker in one direction - slower movement represents the pathology)
  • Horizontal/verticular

Congenital nystagmus
- related to visual conditions, usually bilateral, conjugate and horizontal

Acquired

  • Cerebellar
  • Labryinthine
  • Medications

Peripheral - pointed same direction, resolves with fixation
Central - change direction with change gaze, no change with fixation

Spasmus nutans (infants 4mo-3years) - head nodding, nystagmus, head tilt

60
Q

Floppy infant Ddx

A

Central (Floppy strong) - UMN disorder

  • Hypotonic CP (HIE) ; TORCH
  • Brain malformation
  • Syndrome - T21, PWS
  • Metabolic - smith lemli optik, zellweger

Peripheral (Floppy weak)

  • Anterior horn - SMA
  • NMJ - congenital MG
  • Muscle - congenital myopathy, myotonic dystrophy
61
Q

Hemiplegia aetiology

A

Ischaemic stroke

  • Cerebral arteriopathies (50-70%)
  • Cardiac causes
  • Thrombophilia
  • Sickle cell
  • sepsis

Haemorrhagic
- Vascular abnormalities - AVM, aneurysm

62
Q

Compliance and adherence methods

A

Identify barriers

  • SEs / complications
  • Education
  • Simplify regime, involve child, avoid school meds
  • Reminders
  • Positive reinforcement, negotiate short term goals
  • Increase adolescents autonomy over health
  • written and oral instructions
63
Q

Complications growth hormone treatment

A 
Benign intracranial hypertension
Type 2 DM
OSA
Increased risk malignancy
Worsening scoliosis
SUFE
64
Q

Indications GH treatment

A 
GH deficiency - proven on 2 bloods
\+ GH stim test abnormal (GH<5 on 2+ tests), 
height velocity <25th centile, 
normal bone age (<14girls, <16 boys)
image pituitary, outule malignancy

Aim: height V >50th centile or increase >2cm per year, bone age<14 girls, <16boys

Short stature without GH def:
height <3sd below mean height age
height velocity <25th centile
no chronic disease, no skeletal dysplasia, no malig

Renal failure (height <2sd below mean, HV <25thcentile)
Turners (monitor and rx hypothyroidism)
Prader willi - outrage OSA, obesity and T2dm, be >2yrs

Other
following pituitary surgery (tumour resection)
- IGF >1sd below mean, GH def, low QOL

65
Q

Ddx Hypopit

CCRASH

A

Craniopharyngioma
- endocrine hypofunction, headache, VFD: bitemporal hemianopia
CHARGE - AD, CHD7 mutation
Radiotherapy

Acquired brain injury (including HIE)
Septo-optic dysplasia- Triad of
1. ON hypoplasia, - blindness (wandering nystagmus)
2. Hypoplasia pituitary, (def GH>TSH>ACTH>GnRH>DI)
3. Midline brain abnormal (absent septum pellucidum, genesis corpus callosum)
Others assoc: OSA, ASD, obesity, temp instability
Holoprosencephaly (malformation forebrain)

Order of hormones affected
GH ; TSH ; ACTH ; GnRH
Replace glucocorticoid before thyroid hormone as risk adrenal crisis

66
Q

Tall stature exam

A 
Inspection
Cognition
US:LS - elevated in Marfans, klinefelters along with wing span
Symmetry ; tanner staging
Scoliosis
Wrist/thumb sign - Marfans
Beighton score if hypermobility 
Mention split lamp for lens dislocation
BP
67
Q

T1DM complications

A

Microvascular

  • Retinopathy (and cataracts) - screen annual from 12yrs)
  • Nephropathy (screen with UACR), monitor BP
  • Neuropathy - foot sensation)

Macrovascular - CAD, peripher Vase disease

Assoc
Coeliac (3-5%)
Autoimmune thyroid (hashimotos ; hypothyroid) 3%pt
Lipid disorders - Screen lipids
Addisons
68
Q

Alagille

A 
Autosomal domimant
JAG1 genemutation (90%), notch 2 gene mutation

Intrahepatic biliary hypoplasia
Cardiac: Peripheral pulmonary stenosis, TOF
Butterfly vertebrae
Eyes - posterior embryotoxin
Facial: Deep set eyes, pointed chin, wide forehead, prominent nose
Renal abnormalities

69
Q

Oedema Ddx

A

Renal - CKD, Nephrotic
Liver - CLD (albumin)
Bowel - PLE (stool A1AT), IBD, CF
Nutritional - protein/calorie malnutrition
Local causes - lymphadenopathy
Drugs - steroids. calcium channel blockers

Non pitting oedema

  • Lymphoedemea
  • Myxoedema
70
Q

Macrocephaly short

A

Dysmorphic
Growth
HC x 3 ; ask for parents HC (average adult 56cm)

Palpate - shunt, fontanelles, sutures
Eyes (LR palsy CN6 increased ICP ; upward gaze palsy - Parinaud)
Spine - ? spina bifida
Skin - neurocutanoeus
<2 - developmental, 
>2 Neuro exam (UL, LL, Cerebellar)
bone, abdomen(HSM)

Ddx

  1. Large bones - achondroplasia, rickets, OI
  2. Large brain
    - SOTOS,
    - Neurocutaneous: NF1, TS, SWS ;
    - Metabolic (MPS)
    - Cerebral tumours
  3. Hydrocephalus
    - Communicating (impaired CSF absorption) - post meningitis, bleed
    - Non communicating / obstructive: aqueduct stenosis, posterior fossa tumours
    - Dandy walker malformation - cystic enlargement of 4th ventricle and posterior fossa
71
Q

Microcephaly Ddx

A

Congenital (Pre-natal)

  1. Brain malformation - lissencephaly
  2. Syndrome/chromosomal
    - Cornelia de lange, angelmans, T21, Fanconi
  3. Hereditary
  4. Metabolic

Acquired (Post natal)

  1. TORCH
  2. FASD
  3. Endo - hypothyroid, hypo pit
  4. malnutrition
  5. HIE, meningitis

Exam

  • inspection
  • HC, other growth ; check if Hx preterm
  • check hearing and vision
72
Q

Friedreichs ataxia

A

AR disorder FXN gene on Ch 9, triplet repeat GAA

Age 5-15 onset
Absent knee jerk but upgoing plantars
Pes cavus
Ataxia, Rombergs positive
Loss vibration/proprioception, distal sensory loss
Cerebellar dysarthria

Optic atrophy
Hyperglycemia, risk T1DM
Cardiac - HOCM

73
Q

Charcot Marie tooth

A

CMT 1A - demyelinating
CMT2 - axonal

CMT1a - PMP22 gene duplication
Distal calf atrophy (champagne bottle leg),
pes cavus, hammer toes
Loss reflexes

74
Q

Spina bifida long

A

NTD (issue first trimester; failure closure D17-28)
Pregnancy Hx: RF NTD - AEDs, nutritional, genetic
Folic acid supplementation, prenatal diagnosis
If mum has child spina bifida, 3x risk in future pregnancy

Diagnosis and early management
Childs function / ADLs and self help skills
Bowel care
Bladder care
Education -? cog impair

Comp
CNS
1. Hydrocephalus - ? shunt
- 90% Arnold chiari 2 (displacement of cerebellar tonsils and vermis through Forman magnum, caudal displacement of medulla and spinal cord, risk compression of brainstem causing cerebellar dysf, CN palsy, hydrocephalus
- Symptoms - swallowing issues, aspiration, dysarthria, OSA, stridor/abnormal cry, spasticity UL
- Issues with shunt
2. Syringomyelia - cavity of central canal spinal cord, assoc with scoliosis, lower limb weakness and deformities.
3. Scoliosis - congenital / acquired due to syrinx / shunt dysfunction / tethered cord. 50% MMC have scoliosis
4. Tethered cord- requires surgical intervention in 1/3, usually during growth spurts such as adolescence
- Gait changes, lower limb pain, change in motor or sensory function, new orthopaedic / foot deformities
Inx MRI, Rx surgery (outrage syrinx/shunt dysfunction)

Cognitive disability - issues maths, attention
- 80% normal IQ but issues maths, executive function
Urinary issues - UTIs, reflux, CKD
Bowel issues
Ortho - feet/hips/spine
6Ss
- spine/skeleton - spine/hip surveillance, talipes (50%) ; if progressive foot deformity Ddx syrinx / tethering
- SDB - seen in 20%, need sleep study if level above t10
- Skin - sensory level, pressure sores, review equipment
- Senses - check vision and hearing
- Size - growth and puberty
- Seizures (15-20% patients)
Issues adolescence
- mood, dependence, self care
- Fertility/relationships
Females with level below L3 have vulval sensation and can have orgasm, normal fertility
Discuss contraception, folate supp if planning pregnancy, risk 1/20 for child spina bifida
Males - 70% get erections, 50% ejac; 20%orgasm ; many infertile males

LATEX allergy - 500x risk due to early exposure

Management points
Motor disability and mobility devices, contractors, skin pressure sores
Bladder management ; worsening bladder control often indication of tethered cord/syrinx/shunt issue
Oxybutinin (antichol) and intermittent catheter
If issues with catheters - ? mitronfanoff ;
? bladder augmentation ; urodynamics once old enough
Rx UTIs, monitor for CKD (regular renal US) - 5-10%pt
CKD mineral bone disease - risk fractures

Bowel issues - Rx constipation, rectal emptying
Consider irrigation system (Peristeen) / MACE

75
Q

Turners long case

A

1/2500 females
Total or partial loss X chromosome
45X (50%), others mosaic ; variable phenotype

Birth - lymphedema hands/feet, short and webbed neck
Dysmorphic features: epicanthal folds, abnormal ears,neck webbing, short stature, low posterior hair line, wide spaced nipples, shield chest, hyper convex nails, wide carrying angle, madelung deformity, shortened 4th metacarpal, multiple nevi

Complications
- CVS: elongated transverse aortic arch ; 16% bicuspid AV, risk AS/AR, 11% have coarctation ; risk PAPVR
Risk aortic root dilation - needs monitor, ++risk with pregnancy. Screen with ECHO/MRI every 5yrs
Monitor for HTN

  • Vision/hearing: Recurrent OME - combo CHL and SNHL
    Risk strabismus, ptosis, cataracts, epicentral folds.
    ? hearing aids or glasses

-Renal: 1/3 kidney issues - horseshoe kidney , duplex collecting system. Risk recurrent UTIs
Screen with US every 5yrs. Monitor for HTN

  • Short stature (SHOX def)
  • GIT: Risk coeliac (5%, screen every 2 years), IBD ; increase LFTs 40%
  • Hypothyroidism 10-30% (Hashimotos), annual TFTs from age 10
  • Puberty (1/3 enter spontaneous puberty), 3% spontaneous periods
    >90% have gonadal failure
    Pubertal induction at 12-14 ; Pelvic US prior
  • growth - plot of TS specific chart; Rx with growth hormome
  • Dental issues - high palate and dental overcrowding
  • Risk obesity and T2DM
  • Bone health (improves with GH and oestrogen ) - scoliosis, hips, arthritis

Psychsocial/Education

  • ? issues cognition ; maths ; social
  • Behavioural issues
  • Bullying
  • Speech issues
  • Fertility discussions

If Y chromosome present - risk gonadoblastoma, prophylactic removal gonads

76
Q

central cord lesion presentation

A

LMN signs in the upper extremities and UMN signs in the legs, bladder dysfunction, and loss of sensation caudal to the lesion.

There may be considerable recovery, particularly in the lower extremities.

77
Q

Charcot Marie tooth (HSMN)

A

CMT1A most common (demyelinating)
-CMT1a - AD, presents with distal weakness, sensory loss, absent DTR, per caves and hammer toes.
Due to PMP22 duplication
Delayed motor and sensory conduction studies
- CMT2(axonal)

Symptoms/signs
inverse champagne leg appearance due to muscle wasting, foot drop (due to weakness of dorsiflexion)
PES CAVUS and hammer toes
Can involve upper limbs too (less than LL)
May have palpably enlarged nerves (popliteal/tibial)
High stoppage gait
Risk hip dysplasia and scoliosis

Use AFOs

78
Q

Guillan Barre

A

Ascending paralysis (AIDP)
Post infectious polyneuropathy
- Symmetric ascending paralysis (LL>UL) ; weak+flaccid
- Loss reflexes

Risk bulbar involvement in 1/2, respiratory compromise
10-15% require ventilatory support
MFS(ataxia, ophthalmoplegia, Areflexia)
Autonomic signs - HR/BP instability, constipation, urinary retention

LP - elevated CSF protein (1/3 N if done first week)
MFS - IgG Ab to Gq1b

MRI brain and spinal cord - thickening of Cauda Equina

Rx IVIG or PLEX
10% go on to need repeat IVIG
7% go on to develop CIDP (>2 relapses >8weeks apart)

79
Q

Ddx for acute hemiplegia

A

Stroke

Stroke mimics
• Todd’s paralysis
• ADEM (Acute Disseminated EncephaloMyelitis)
• Mass lesions, eg. Neoplasms
• Trauma (NAI)
• HSV encephalitis
• PRES (Post. Reversible Encephalopathy Syndr.)
• Complicated migraine
• Metabolic eg.MELAS (Mitochondrial)
80
Q

Spastic diplegia Ddx

A

CP: Prematurity - PVL
Dopa responsive dystonia - median onset 6yrs, diurnal variation
Tethered cord / spinal cord ischaemia
Vit E deficiency

Ask about bladder bowel
Any upper limb involvement
Birth Hx, prematurity

81
Q

Vitamin E deficiency signs

A

Patients may have cerebellar disease, posterior column dysfunction, and retinal disease.
Loss of deep tendon reflexes is usually the initial finding. Subsequent manifestations include limb ataxia (intention tremor, dysdiadochokinesia), truncal ataxia (wide-based, unsteady gait), dysarthria, ophthalmoplegia (limited upward gaze), nystagmus, decreased proprioception (positive Romberg test), decreased vibratory sensation, and dysarthria.

82
Q

Friedreichs ataxia

A

AR disorder of spinocerebellar tracts (dorsal column)
triplet repeat disorder GAA repeat, Frataxin gene

Ataxia (before age 10) LL>UL
Upgoing plantars, absent ankle
pes cavus, hammer toes, kyphoscoliosis
dysarthria speech
nystagmus
Loss vibration and proprioception, Rombergs+ve

Cardiac: HOCM
Diabetes

83
Q

Noonan Syndrome

A

• AD (often inherited) ; 1:1000-1:2500
PTPN11 mutation in 50%
Rasopathy, Noonans gene panel
Triad: Dysmorphic, short, cardiac

• Short stature

• Facial dysmorphism (can be very subtle)
- Hypertelorism, epicanthal folds, ptosis, diamond shaped eyebrows, down slanting palpebral fissures
-Short webbed neck, low posteriorly rotated ears, low posterior hairline, short broad nose, broad forehead, triangular face
• Chest deformities (wide spaced nipples, pectus excavatum), webbed neck, short/squared off fingers
Wide carrying angle

• Cardiac (50-80%)
 - PS(dysplastic PV) - most common
-  Superior axis
-  Hypertrophic cardiomyopathy, 20%
Others:  VSD, ASD, TOF
  • Lymphatic (chylothorax, increased NT)
  • Self-limited feeding problem (25%)
  • Cryptorchidism (60 – 80%)
  • Global developmental delay, language delay
  • Learning difficulties, reduction in IQ but intellectual disability not typically severe
  • Bleeding diathesis
  • Increased risk childhood malignancy e.g. JMML, neuroblastoma

Ddx - CFC, costello, turner, LEOPARD

Monitor: growth, echo, hearing, development

84
Q

Prader Willi

A

• 1:10 000 – 30 000
• Infancy – hypotonia, feeding difficulties
• Later infancy/childhood – excessive eating/food seeking behaviour
• Gradual development of obesity
• Developmental delay – motor and language
• Cognitive impairment
• Behavioural phenotype (tantrums, stubbornness, manipulative behaviour, OCD characteristics, self-harm)
• Short stature – GH responsive
• Facial features – narrow bifrontal diameter, almond shaped PFs,
thin upper lip, downturned corners of mouth
• Strabismus 60-70%
• Hypogonadism – incomplete pubertal development, infertility
• GH treatment increases lean body mass, reduces fat mass, increases mobility, improves language and cognitive skills

85
Q

Angelmans

A
  • 1:12 000 -24 000
  • Severe developmental delay (6-12 months) and ID
  • Severe speech impairment
  • Gait ataxia/tremulousness of limbs
  • Behavioural phenotype – inappropriate happy demeanour, frequent laughing/smiling, excitability, hand-flapping
  • Microcephaly (postnatal)
  • Seizures 80% (generally before 3y), abnormal EEG, with a characteristic pattern of large- amplitude slow-spike waves
  • Feeding problems common
  • Normal puberty and fertility
86
Q

Klinefelters

A
  • 47,XXY ; 1:600 males
  • 1/3 diagnosed in childhood – language delay, hypotonia/motor delay • Learningdifficulties,IQreducedcomparedtosiblings
  • 1/3 diagnosed in adolescence – puberty delay (hypogonadism)
  • Long legs, gynecomastia (50%)
  • Small, firm testes
  • 1/3 diagnosed in adulthood (usually when investigated for infertility) • Increased risk type 2 diabetes, osteoporosis, CVD
  • Testosterone replacement • ART (testicular biopsy/ICSI)
87
Q

Williams Syndrome

A

Deletion on Ch7 (7q11.2), most de novo, affected individuals have 50% chance of passing on

• Distinctive face
- Broad forehead, bitemporal narrowing, periorbital fullness, stellate/lacy iris pattern, short nose, broad nasal tip, long philtrum, wide mouth
Narrow face and long neck, small widely spaced teeth

• Cardiac abnormalities (elastin arteriopathy)

  • Supravalvar aortic stenosis 75%
  • Peripheral pulmonary stenosis

• Hypertension
• Anaesthetic risk (high risk for cardiac arrest)
• Connective tissue abnormalities
• Herniae, rectal prolapse, soft lax skin
Bowel/bladder issues

  • Hypercalcaemia in infancy
  • Hypothyroidism
  • Feeding difficulties, FTT and short stature
  • Increased risk for type 2 diabetes, obesity in adults

• Variable level intellectual disability ~100%
- visuospatial issues
• Personality - Overfriendliness, empathy, like music
• Psychiatric - Generalized anxiety, specific phobias, attention deficit disorder
Poor sleep
Vision / hearing issues
Dental issues
Neuro: axial hypotonia, peripheral hypertonia

88
Q

Ataxia short

Exam
Ddx
Inx

A

Incoordination of movement and balance due to dysfunction
o Cerebellar
o Sensory or motor pathways (connecting to CB)

Aetiology
a) Cerebellar

  1. Congenital
    i) Congenital CNS anomalies - Dandy-Walker syndrome, Chiari malformation, encephalocele, agenesis of CB vermis
    ii) Spinocerebellar degenerative - AT, Friedrich ataxia, olivopontocerebellar atrophy, abetalipoproteinemia (also a metabolic disorder)
    iii) Other degenerative - GM2 gangliosidosis, neuronal ceroid lipofuscinosis, Pelizaeus-Merbacher disease
    iv) Metabolic - arginosuccuric aciduria, maple syrup disease, pyruvate decarboxylase deficiency, Hartnup disease, Vitamin E deficiency
  2. Acquired
    i) Infectious
    - Acute cerebellar ataxia (post-viral e.g. varicella, coxsackie, echovirus), cerebellar abscess
    - Miller Fischer variant of GBS (ataxia, ophthalmoplegia, areflexia)
    ii) Toxins
    - ETOH, ethylene glycol, sedatives, hypnotics, thallium (used occasionally as pesticides), lead, mercury, hydrocarbon fumes
    - Anticonvulsants (CBZ and especially phenytoin, when serum level >30mcg/mL = 120umol/L)
    iii) Tumours
    - Cerebellar tumours
    - Frontal lobe tumours - ataxia by destruction of fibres connecting frontal lobe with CB
    - Neuroblastoma – encephalopathy characterised by progressive ataxia, myoclonic jerks, opsoclonus (non-rhythmic horizontal and vertical oscillations of the eyes)
    iv) Trauma – head injury
    v) Other - vascular events, migraine, seizures

b) Vestibular disease
1. Acute labyrinthitis – middle ear infection, intense vertigo, vomiting and abnormal labyrinthine function (esp ice water caloric testing)

c) Posterior column loss (V & P)
1. Subacute combined degeneration of the cord – B12 def (symptoms similar to Friedrich’s ataxia - UMNL of LL with absent ankle reflexes, dorsal column loss, peripheral sensory neuropathy, also optic atrophy & dementia)
2. Tabes dorsalis
3. Diabetes
4. Hypothyoroidism

d) Peripheral neuropathy (DAM IT BICH)
1. D = Drugs - isoniazid, vincristine, phenytoin, nitrofurantoin, cisplatin, heavy metals, amiodarone
2. A = Alcohol
3. M = Metabolic – diabetes, CRF
4. I = Infective – GBS but usually predominantly motor
5. T = Tumour (leukaemia, lymphoma)
6. B = B12 deficiency
7. I = Idiopathic
8. C = CTD – SLE, PAN
9. H = Hereditary – HSMN

History

1.	Onset of ataxia
o	Acute (*most common)
•	Infectious* (acute post-infectious, labryinthitis, Miller Fischer variant GBS)
•	Drug ingestion*
•	Seizure, head injury, vascular event (stroke), brain tumour, hydrocephalus
o	Developing chronic 
•	Tumour 
•	Neurodegenerative
  1. Underlying cause
    o CNS abnormality/degenerative – associated congenital anomalies, FHx
    o Metabolic – FHx
    o Infectious – features of acute infectious, labyrinthitis
    o Tumour – Sx of ICP
    o Exposure to drugs and toxins
    o Recurrent respiratory and sinus infections (ataxia telengiectasia)
  2. Developmental Hx - ? just clumsy or true ataxia

Examination

1.	CNS examination
o	CB function (speech, vision, gait) – abnormality of CB hemispheres
o	Gait veers towards involved side
o	Wide based and unsteady gait
o	Dysmetria of ipsilateral extremity
  1. Lower limb neuro
    o Motor function and reflexes  abnormal gait may arise from muscle weakness and spasticity
    o Sensory function
  2. Fundoscopy (neurodegenerative)
  3. Systemic exam - cutaneous stigmata (ataxia telangiectasia)

Investigations

  1. Bloods
    o FBE, UEC
    o +/- toxicology screen blood (and urine)
    o +/- metabolic screen (amino acids, lactate, pyruvate, ammonia, pH, ketones)
  2. Other
    o CT/MRI needed - if no lesion, detailed metabolic and genetic evaluation
    o +/- LP (after imaging)
    o VMA/HVA urine if think neuroblastoma (need image chest and abdomen as well)
89
Q

Prader willi syndrome

Long

A

Methlylation disorder with absence of paternally expressed genes from the chromosome 15q11- q13 region
Diagnosis methylation testing
-70% paternal deletion, 25% maternal UPD, rest methylation defect

Infancy - central hypotonia, poor feeding and FTT

Older
Dysmorphic - almond eyes, thin upper lip, downturned mouth, straight border to side of legs/ulnar border

Issues
Hypothalamic dysfunction
Poor sleep
Hyperphagia and obesity - risk T2DM, OSA
Developmental and cognitive delay
Short stature and GH insufficiency. Small hands/feet
Behavioral problems - skin picking, tantrums, manipulative behaviour, OCD
Neuroendocrine abnormalities.
- GH deficiency
- Hypogonadism
- Central Hypothyroidism
- T2DM
- Central adrenal insufficiency (Risk of adrenal crisis with GH treatment)
Eye problems - strabismus
Monitor bone health, scoliosis - need Ca and Vit D

Behaviour
Nutrition
Endocrine ; GH treatment
Sleep

90
Q

22q11 deletion syndrome

CATCH 22

A

Cardiac
- Conotruncal defect - 3XTAPS
TOF ; Interrupted aortic arch, VSD ; tricuspid atresia/truncus arteriosus
Abnormal face
- Hypertelorism, abnormal ears, bulbous nasal tip
- Asymm crying face
Thymic hypoplasia / T cell defect
Cleft palate and pharyngeal insufficiency
HypoPTH and Hypocalcemia

Others  - low IQ
Feeding issues
Renal issues - horseshoe kidney, abnormal structure
Seizures
High incidence Psychiatric disorders

FISH for 22q11.2

91
Q

Chorea Ddx and exam

A 
CP
Wilsons
Neurodegn - Lesch Nyan, Huntingtons
Sydenhams chorea
Drugs
SLE
AT

Stick out tongue
Pronator sign (hands above head)
Milk maids grip

92
Q

Cerebellar short

A 
Inspection, HC (? tumour), ? shunt ; telangiectasia, BP
Speech - sizzling sausage
Nystagmus
Truncal ataxia
Gait - ataxia (fall to side of lesion)
Rombergs +ve
Tremor, hypotonia, past pointing
Dysdiadokinesis
Pendular reflexes

Look eyes (KF rings, telangiectasia, papilloedema)

Syndromic assoc
FA (pes cavus, hammer toes, absent knee/ankle reflex) ; T2DM, HOCM
Ataxia telangiectasia
Wilsons
Neuroblastoma
Bardet Biedl (RP, Polydactylyl, obese, hypogonad)

MRI
FBC, UE, LFT, metabolic, toxicology

93
Q

Peripheral Neuropathy causes

A

DAM IT BICH

Drugs - vincristine, isoniazid
Alcohol
Metabolic - CRF, DM
Infective - GBS
Tumour - Leukaemia/lymphoma
B12 def
Idiopathic
CTD - SLE
HSM neuropathy - CMT
94
Q

Hemiplegia EXAM and Ddx

A 
Observation 
Speech (Dysphasia if dominant hemisphere)
Intellect
Skin - Neurocutaneous, bruising
HC, scars, shunt

Gait examination
- Circumduction gait, arm flexed
FOG test
Sensory neglect (pronator drift)

COMPLETE EXAM
Upper limb
Cranial nerves
Cardiac exam

Determine level - cortex, IC, brainstem, spinal cord
Parietal lobe signs (Cortical)
- Dominant lobe (LIRA - left right confusion, ideomotor apraxia (brush teeth), receptive aphasia, agraphia)
- Non dominant - constructional apraxia (draw clock)
Visual fields (lesion at IC or above)
Cranial nerves, esp CN7 (UMN above pons, LMN pons)

CORTEX: Face and arm>leg, cortical signs
IC: dense hemi, homonymous hemianopia
Brainstem: Ipsi CN palsy, contr hemi
Spinal cord - face spared

Ddx
Congenital causes (Antenatal / Perinatal causes)
- Hemiplegic CP
- Vascular
- Structural
- Congenital infections

Acquired

  • Stroke:
  • – Ischaemic - moyoma, CARIAC(thromboembolic): CHD, RHD, SBE, ; sickle cell, thrombophilia ; NF1, homocystinuria
  • –Haemorrhagic - coagulopathy, AVM, tumour, haemophilia
  • Vasculitis (SLE, takayasu)
  • Neoplasm
  • Trauma
  • Infective (HSV encephalitis, meningitis, abscess)
  • Metabolic (MELAS)
  • Autoimmune - ADEM
95
Q

Ddx facial weakness

A

Bilateral weakness with ptosis +/- ophthalmoplegia

  • Moebius (CN 6,7) (facial palsy, CN6palsy, absent pectorals, hypoplastic fingers)
  • MG
  • MD

B/L weakness with no ptosis

  • myopathy
  • CP with bilateral UMN facial palsy
  • GBS

Unilateral facial nerve palsy
- UMN (forehead sparing): check gait, VF
Causes: Tumour, vascular

  • LMN (forehead involved):
    Idiopathic / Bells, Ramsay Hunt, check ears for OM, parotid gland
96
Q

Tacrolimus
SE
Medications that affect levels

A 
HTN, Hyperkalemia, GI upset
Neuro: Peripheral neuropathy and Tremor
Renal impairment
Hyperglycemia
Hypomagnesemia

Things that increase Tac level
Antibiotics: Macrolides ; cipro
Omeprazole ; NSAIDs, Fluconazole

Things that decrease Tac levels
AEDS - CBZ, Phenytoin ; Rifampicin

97
Q

Liver transplant

A

Graft survival - 90% 1 year, 80%5years
Done when liver decompensated
- Hepatorenal, encephalopathy, refractory ascites

Indications

  • impaired synthetic function (albumin low, high INR)
  • intractable malnutrition / FTT
  • Varices from portal HTN
  • poor QOL (intractable pruritius, lethargy, anorexia)

Diseases

  • EHBA (biliary atresia) - most common >50% LTx
  • Metabolic condition - CF, AAT def, GSD, tyrosinemia
  • Acute hepatic necrosis
  • Primary biliary cirrhosis / cholestatic liver Dx
  • Malignancy

Donor must be ABO matched

Immune suppression
- Tac, MMF, steroids(weaned over 12mo)

Complications
- Acute rejection (most common first 3/12 post transplant, no effect graft function )
- Late rejection - due to SE immune supp - infection/PTLD
Fever, deranged LFTs, jaundice, pain
Rx pulse steroids, increase TAC

  • Infections: Bacterial, Viral (EBV/CMV), fungal
  • Biliary comp (20%) - cholangitis
  • PTLD.- EBV driven, occurs 3-12mo post LTx
    Rx by decreasing Tac ; consider rituximab
  • SE immune supp - renal impair, HTN, T2DM
  • Recurrence primary liver disease - autoimmune, hepatoblastoma (monitor AFP)
  • Thrombosis of anastomosed vessel (risk highest first 3/12, Rx Anticoag)
NB compliance
AVOID LIVE vaccines
Need VZIG/IVIG if measles or VZV exposed
PCP prophylaxis until 1 year post
CMV prophylaxis x 3/12 with valgan
Back to school 3/12 post transplant
Good hygiene, no swimming
Nutrition
Skin surveillance
Psychological support - parents and child
98
Q

Renal Transplant short

A

Appears, growth ; Vitals - BP
evidence PD / HD

Hands - nails, wrists, pulse, BP
JVP for overload
Eyes - cataracts SE, fundo to check for RP
Hearing aids (Alports)

Medication SE - BP, Hirsutism, weight, gum hypertrophy
Heart/lungs
Abdo
 - scars, PD site, transplant
- ballot ; bruit
- Check liver (ARPKD)
lymphadenopathy (PTLD)
Rash on legs, peripheral oedema, sensation
Hx Renal transplant
- Diagnosis, Inx, complications, treatment
Bladder / bowels
Growth, BP
Bones
Skin
Fluid intake
Meds
EPO for anaemia
Immune suppression and SEs
Special feed / restrictions
? GH for growth
ACE for BP
UTI prophylaxis
CMV prophylaxis (for 3/12, valgan)
Cotrimoxazole (PCP prophylaxis for 6/12 post)
IMMS status

Check regular bloods, viral serology
Biopsy at 3/12 and 12/12 - check for CNI toxicity, allograft nephropathy, subclinical rejection
Monitor BP, lipids
Bone bloods, Vit D
US at 1,5,10years post transplant
No live IMMS, may need VZIG/IVIG if exposed

Impact
Complicance
Sick plan
School / mood / finances

99
Q

Ddx graft dysfunction renal

A 
Infection - UTI, EBV/CMV, BKV
Obstruction 
Medication-tac/ciclosporin
Perfusion
Dehydration
Rejection
100
Q

Horners syndrome

A

Ptosis, miosis, anhidrosis
Lesion along sympathetic pathway

Ddx

  • Congenital (iris heterochromia)
  • Post cardiac surgery
  • Neuroblastoma
  • Brachial plexus lesion (Klumpkes)
  • Mediastinal / apical lung tumour
  • MS / stroke / spinal cord lesions

Lateral medullary syndrome (brainstem)
vertigo and ataxia,Horner syndrome.
- abnormal eye movements, ipsilateral limb ataxia, and a dissociated sensory loss (loss of pain and temperature sensation on the ipsilateral face and contralateral trunk)

101
Q

JDM

A

Peak 4-6, 12-13

Skin
Gottrons papules 
Heliotrope rash
Sun exposed rash
Calcinosis

Symmetrical proximal muscle weakness
Elevated CK, LDH, AST

Dilated nail fold capillaries
Cardioresp comp - DCM, conduction abnorm
GI/renal; swallow weak
CNS/ophthal

25-30% full recovery , no relapse
50-60% relapsing course
Small percentage chronic

CMAS to assess severity
SLT
LUNG FUNCTION

Steroids, taper over 2 years
MTX

102
Q

VACTERL

A 
Vertebral anomalies
Anal atresia +/- fistula
Cardiac (VSD0
TE - tracheo-esophageal fistula
Renal anomalies 
Limb anomalies (Polydactyly, humeral/radial hypoplasia,)
103
Q

Fanconi Anaemia

A

Inherited BM failure syndrome

Short stature
Radial ray and thumb abnormalities
Skin: CAL
HEAD: bird like face, microcephaly, epicanthal folds, low set ears, CHL, strabismus
Renal: ectopic/horseshoe/absent kidney
Hypospadias / abnormal genitalia
Cardiac: PDA, VSD
Endo: Hypothyroid, DM
Malignancy risk

Diagnosis; Chromosomal breakage analysis

Rx: HSCT

104
Q

Haemophilia long case

A

Age diagnosis, presentation ;
TYPE A (factor 8 def) ; B (factor 9 def). BOTH XLR
2/3 family Hx, 1/3 spontaneous mutation
APTT prolonged–> genetics

Complications - joint/brain/skin/airway
Treatment and prophylaxis ; analgesia
Inhibitors (20-30% with A)
 - Low responders - higher dose
- High responders - may need recomb Factor7
- Immune tolerance, Rituximab 
Frequency of infusions
Activity limitation
Acute emergency plan
Prophylaxis
Imms
Dental care, surgery
? CVAD
genetics

Factor replacement in emergency
Joints - RICE
Avoid NSAIDS for pain

105
Q

Sickle cell long

A 
Age Dx, Symptoms
Complications
- Crises
- acute chest
- Stroke
- Splenic sequestration
- Renal
- Eyes: Retinopathy, SE hydroxyurea

Acute Mx plan
Avoid precipitants
Splenic function - ? need extended imms
- Risk infection encapsulated organisms - pneumococcal, salmonella (OM)

Treatment: Hydroxyurea
? HSCT

6/12 review, emergency plan
SE Hydroxurea - BM supp, teratogenic
Adherence, transition

106
Q

Thalassemia

A

BETA THAL

Anaemia
Extramedullary haematop - frontal bossing
Iron overload
- Endocrine: growth F, hypothyroid, DM
- Cardiomyopathy (annual ECHO)
- Liver: cirrhosis and portal HTN (Liver US, LFTS)
- Brain
Pigement bile stones
Hypersplenism (thrombocytopenia)
Short stature, pubertal delay
Transfusions
chelation timing and SE (cataracts, SNHL, annual eye and hearing review )
IMMS
Genetic testing (25% risk recurrence)
HSCT
107
Q

Retts

A

XLD, mutation MECP2 gene, 99% sporadic
Occurs only females

Normal initial development followed by regression from 6-18months with loss of speech and purposeful hand movements and development of stereotypic hand movements and abnormal dyspraxia gait.

Features
Hand stereotypes - wringing, clapping
Ataxic/apraxic gait
Abnormal respiration - hyper vent and aponea ; bruxism
Deceleration of head growth
Prolonged QTc
Eye pointing
Abnormal sleep
ASD behaviour, loss speech, poor eye contact
Scoliosis
Epilepsy and seizures in 80-90%
 - Rx AEDs, ketogenic diet
Autonomic dysfunction 
Feeding issues - PEG fed, GORD, abdominal bloating, constipation
Decreased sensitivity to pain
Bone health

4 stages

  1. Delay ; (6-18mo)
  2. Regression (1-4yo)
  3. Unapparent slow deterioration (2-10)
  4. Motor deterioration - become wheelchair dependent by adults
108
Q

Kabuki syndrome

A

AD, KTM2D gene

high arched eyebrows, eversion lateral 1/3 eyebrows, long palpebral fissures
Cleft lip/palate ; abnormal ears
ID ; short stature
Spine abnormalities
Cardiac: CoA, VSD
Renal/GI issues

Paeds (25 decks)

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