Clinical signs match Flashcards

(59 cards)

1
Q

Investigations for global developmental delay

A

FBC, U+E
TFTs
Lead, iron studies, B12, Folate
Urine metabolic screen
Chromosomal microarray, Fragile X

Additional metabolic screening on basis of history of developmental regression

MRI if mod-severe GDD, or large or small head, or seizures, regression or focal neurology. Try await until 2 years

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2
Q

Types of developmental screening and assessments

A

Screening: ages and stages
Assessment:
Griffiths 0-6 yrs
Baileys 0-2 yrs

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3
Q

Global developmental delay definition

A

2 or more domains of delayed developement

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4
Q

HEADS assessment stands for

A

Home
Education/Exercise
Activities
Drugs/alcohol
Sexuality/suicide/safety

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5
Q

Hip x-rays for CP- what are you looking for

A

Migration percentage
Subluxation
Leg length discrepancy

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6
Q

IQ scales

A

WISC - 7+ years
WPPSI 3-6 years

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7
Q

Mild ID = approx what age?

A

8-12 yrs

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8
Q

What is RTLB?

A

Resource teacher of learning and behaviour
- Often go into school, make assessment + plan. Not ORS funded, family usually apply

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9
Q

Ideas to help address carer burnout

A
  • Sleep
  • Appts clustered
  • Ideas to increase supports: wider family/friends to support, give permission to reach out to natural supports/community
  • Explore healthy boundaries, having child getting used to having someone else look after them. learning they can be safe with other people
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10
Q

Child disability allowance
Disability allowance
What are these?

A

CDA- anyone can get this, need to be NZ resident, not needs tested

Disability allowance - for glasses, vitamins w restricted eating, transport to appt

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11
Q

Central causes for hypotonia (Strong floppy)

A

Genetic- T21, Prader Willi
Structural - lissencephaly
Neurodegenerative - Tay Sachs, MPS
Neurocutaneous - SWS
Metabolic- aminoacidopathies
Encephalopathy
Infection - TORCH
Endocrine - Hypothyroidism, hypopituitarism

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12
Q

Myotome for Tip toe and heel posture

A

Plantar flexion: S1
Dorsiflexion L5 (CP & DMD can’t do this)

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13
Q

Peripheral causes for hypotonia - weak floopy

A

SMA
Peripheral nerve - Gillian Barre
NMJ- Myasthenia, infantile botulinism
Muscle - congenital muscular dystrophy, myopathies

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14
Q

Causes of goitre

A

TSH (is a growth factor) from hypothyroidism
Activation of TSH receptors (graves)
Thyroiditis
Nodules
Iodine deficiency

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15
Q

What kind of CP is more common in ex-premmies

A

Diplegic CP
Periventricular leukomalacia

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16
Q

Dystonia vs spasticity

A

Dystonia - changes throughout the day, differs with excitement

Spasticity - velocity dependent hypertonia

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16
Q

Possible treatments for dystonia

A

Baclofen
Gabapentin
Botox (less so)

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16
Q

Cautions with baclofen

A

Sedation
Decreases seizure threshold
Can’t suddenly stop

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17
Q

Leg rashes consistent with IBD

A

Erythema nodosum
Pyoderma gangrenosum

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18
Q

Clinically detect jaundice. Then go onto assess….

A
  • Signs of fat soluble fat deficiency (bone health)
  • Hypothyroidism
  • Alagilles (triangular face, peripheral pulmonary stenosis)
  • Hypopituitarism
  • TORCH
  • Haemolysis (inc HC)
  • Wilsons
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19
Q

Indications and side effects of cyclosporin

A

Indications: rheum, transplants, IBD

S/E: Nephrotoxicity, gum hyperplasia, hypertension

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20
Q

Tacrolimus side effects

A

Tremor
Hypomagnesiumia
Allopecia

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21
Q

Usual meds for kidney transplants

A

Induction: IV Methylpred + basiliximab

Maintenance: Cyclosporin/tac + mycophenolate + steroids

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22
Q

Side effects of chronic steroid use

A

Weight gain
Behavioural issues
Thinning skin
Gastritis
Faltering height
Hypertension
Infection
STRESS STEROID PLAN
Myopathy
Osteoporosis

23
Short stature syndromes
Turners - webbed neck, CoA, shield chest Noonans - pulmonary stenosis Russel-Silver: macocephaly, face asymmetry, cafe au last Fanconi anaemia: microcephaly, thumb + radial abnormalities, bone marrow failure Williams: elfin facies, supravalvular aortic stenosis T21 Achondroplasia
24
Endocrine causes of short stature
Hypothyroidism Hypopituitarism GH deficiency Cushings syndrome Pseudohypoparathyroidism
25
Gross motor milestones for 6w 4m 6m 9m 12m 18m 2y 3y
6w: head raised 45 when prone 4m: head control when upright 6m: Rolls, sits unsupported, no head lag when pulled to sit 9m: crawls 12m: walks 18m: walks well, throw ball 2y: runs well, walks up steps, jump w both feet 3y: catch large ball 4y - hop on one foot
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Fine motor milestones for
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Skin side effects of chronic steroid use
Thin skin Hirsituism Bruising Facial erythema Impaired wound healing Acne Striae
28
Steroid side effects Use Mnemonic
Cataracts/cushingoid face Ulcers Striae Hypertension/hirsuitism Infections/immunosuppression Necrosis (AVN) Growth impairment Obesity/Osteoporosis ICP raised Diabetes Myopathy Adipose tissue hypertrophy/acne Psychosis/mood disturbance
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Different renal imaging methods and purposes
Renal USS: gross structure DMSA: scaring MAG3: function and obstruction
30
Causes of hepatomegaly
Structural/storage Haematological/heart Infection Rheum/reticuloendothelial Tumour/trauma
31
Structural causes of hepatomegaly + common ages/main features
Biliary atresia (usually PC 2-3w of life, ideally Kasai before 2m, all will eventually need transplant) Choledochal cyst Gallstones - can cause extra hepatic obstruction Alagile syndrome - usually PC neonatal period. Peripheral pulmonary stenosis, triangular face Congenital hepatic fibrosis
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Storage/metabolic causes of hepatomegaly & common associations/findings/presentations for each
Gauchers (massive hepatosplenomegaly + anaemia & thrombocytopenia) Neimann Pick (type B = hepatosplenomegaly + normal intelligence. Type C = neuro involvement/GDD, vertical gaze palsy Glycogen storage disease (type 1 = Von Girke, doll like face, thin extremities Mucopolysaccharidoses (coarse facial features, Urea cycle disorders Wilsons disease (PC 5+ yrs) A1AT deficiency CF
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Investigations for Wilsons
Screening test - ceruloplasmin (low in Wilsons) but also acute phase reactant Often have haemolytic anaemia 24 hr urinary copper Stimulation w D-Penicillamine --> +++ urinary copper Liver biopsy - gold standard
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Haematological causes of hepatomegaly
Thalassaemia Sickle cell disease Acute lymphoblastic leukaemia Acute myeloid leukaemia
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Infective causes of hepatomegaly
Hepatitis A/B/C EBV CMV
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Rheumatological/reticuloendothelial causes of hepatomegaly
JIA SLE Lymphoma Histiocytosis Sarcoid
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Tumours causing hepatomegaly
Hemangioma Hepatocellular carcinoma Hepatoblastoma (1.5-2 yrs) Metastases
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Causes of splenomegaly
Cardiac - infective endocarditis Haem - hereditary spherocytosis, G6PD, B thalassaemia Infective: EBV, CMV Malignancy -leukaemia, lymphoma Portal hypertension Storage: gaucher, Neiman pick
38
Causes of acute ataxia:
1. Drug/toxin (alcohol, phenytoin, piperazine neuroleptics, pesticides) 2. Head injury 3. Infection (coxsackie, echo, influenza) 4. Lesion (infarct, tumour, abscess, bleed) 5. Cerebral tumours e.g. brainstem, hydrocephalus, Arnold Chiari malformation Hypoglycemia 6. Labyrinthitis 7. Vitamin E and zinc deficiency
39
Causes of chronic ataxia:
1. Ataxic cerebral palsy (10% of all cerebral palsy) 2. Degnerative - Friedreich ataxia, AT, Wilson, Refsum, Batten, metachromatic leukodystrophy 3. Neoplastic - astrocytoma, medulloblast (opsiclonus myoclonus), Other: hypothyroid, multiple sclerosis (rare in childhood), abetalipoproteinaemia
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Syndromes with hemihypertrophy
Russel-Silver Beckwith-Weidemann McCune-Albright Proteus
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Syndromes with syndactyly
Aperts, Poland, Smith-Lemli Opitz
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Syndromes with Clinodactyly
Down, Russel-Silver, Seckel, Rubinstein-Taybi, Cornelia-De-Lange, Prader-Willi
42
Syndromes with shortened 4th metacarpal
Pseudohypoparathyroidism Turner FAS
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Simian crease - name 2 syndromes a/w this
Down Cornelia-De-Lange,
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Syndromes with epicanthic folds
Noonan, Williams, Turner, Down
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Findings with cranial nerve III lesion
Affected eye will be outward with dilated pupil Ptosis Normal consensual response but no direct pupillary response
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Causes of cranial nerve III abnormality
Congenital Space occupying lesion
47
Cranial nerve IV lesion - what does the eye look like
Eye will be up and out (usually works to pull eye down and in). will have head tilt away from affected eye
48
CrN VI lesion
Eye will be deviated medially
49
Causes of CrN VI lesion
1. Raised intracranial pressure 2. Brainstem nuclei – associated CN7 palsy, intranuclear ophthalmoplegia, long tract signs, cerebellar signs (medulloblastoma) 3. Mobeius syndrome – bilateral +/- absent CN7 4. Nerve problem - Infection/inflammatory/post viral - Petros temporal bone (affects CrN 5,6,7,8) - Cavernous sinus – contains CN 3, 4, 6, 5 (ophthalmic and maxillary) 7. Orbital lesions – proptosis, chemosis
50
Causes of Horners syndrome
1. Disrupted sympathetic nervous system anywhere from hypothalamus to eye 2. Congenital 3. Acquired – brachial plexus, neuroblastoma, tumours/injuries affecting superior cervical chain or carotid artery Commonest - post-cardiac surgery
50
Presentation of Horners - findings clinically
○ Ptosis, meiosis, anhidrosis ○ Long-standing - heterochromia and enopthalmia
51
Classic triad for McCune Albright syndrome
Cafe au lait - coast of maine Polyostiotic fibrous dysplasia Endocrine abnormalities esp precocious puberty
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Endocrine abnormalities to look for in McCune Albright syndrome
FSH/LH - precocious puberty TSH: hyperthyrodism ACTH: Cushing syndrome PTH: hyperparathyroidism & rickets
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