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Phase 3a > Paeds 3 - Neuro and Haem > Flashcards

Paeds 3 - Neuro and Haem Flashcards

1
Q

What are some causes of headache?

A 
Tension-type
Cluster
Root pain from herpes zoster
Raised ICP
Sinusitis
Infection
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2
Q

What are the characteristics of migraine in children?

A

Bilateral/unilateral pulsatile pain over temporal/frontal area
Nausea, vomiting, photophobia, phonophobia

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3
Q

What are the types of visual disturbance in migraine?

A

Negative phenomena - hemianopia or scotoma

Positive phenomena - fortification spectra

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4
Q

What is the prodrome in migraine?

A

Tiredness
Difficulty concentrating
Autonomic features

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5
Q

Give three features suggestive of a space occupying lesion

A 
Raised ICP headache - worse on lying down/coughing, morning vomiting
Visual field defects
Cranial nerve abnormalities
Abnormal gait
Torticollis
Growth failure
Papillodema
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6
Q

What is a febrile seizure?

A

A seizure accompanied by a fever in the absence of intracranial infection

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7
Q

What are the risk factors for febrile seizures?

A

Family history

Iron deficiency

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8
Q

What type of seizures are seen in febrile seizures

A

Tonic-clonic

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9
Q

What is the risk of further epilepsy in a child with a febrile seizure?

A

6% - slightly higher than general population (1%)

Increased risk if complicated seizure

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10
Q

When should you admit a child with febrile seizure to hospital?

A 
First febrile seizure
More than one febrile seizure
Seizure lasted longer than 5 minutes
Focal features
Incomplete recovery after 1 hour
Serious cause for fever
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11
Q

What is the management of febrile seizures?

A

Treat the cause if necessary (i.e. treat a non-viral fever)
Only PR diazepam if seizures are refractory
Oral prophylactic AEDs not used

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12
Q

What are the main causes of seizures in children?

A

Epilepsy (idiopathic or secondary to tumours etc)
Febrile seizures
Non-epileptic attack disorder
Head trauma
Meningitis/encephalitis
Low blood glucose, calcium, magnesium, or sodium

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13
Q

What are the features of pyramidal tract disorders?

A

Weakness
Brisk hyperreflexia
Fine finger movements lost

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14
Q

Difficulties initiating movement, dystonia, and dyskinesia, are seen in what group of disorders?

A

Basal ganglia

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15
Q

What are the features of cerebellar disorders?

A 
Difficulties with posture
Dysmetria
Dysdiadochokinesis
Wide based gait
Nystagmus
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16
Q

Give an example of a corticospinal/pyramidal tract disorder, basal ganglia disorder, and cerebellar disorders.

A

Pyramidal - global hypoxia ischaemic
Basal ganglia - Wilson disease, Huntingtons
Cerebellar - Friedrich ataxia

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17
Q

What is the name of the condition where there is an abnormality of movement and posture, attributed to non-progressive disturbances that occurred in the developing foetal or infant brain

A

Cerebral palsy

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18
Q

Cerebral palsy is used as a term for brain injures up to the age of how many years?

A

2 years

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19
Q

What are the causes of cerebral palsy?

A

80% antenatal - cortical migration disorders or maldevelopment
10% - intrapartum - hypoxic-ischaemic injury
10% postnatal - meningitis

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20
Q

What are the three forms of cerebral palsy?

A

Spastic - 90%
Dyskinetic - 6%
Ataxic - 4%

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21
Q

Name three early features of cerebral palsy

A

Abnormal limb/trunk posture/tone
Delayed motor milestones
Feeding difficulties
Persisting primitive reflexes

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22
Q

Damage to what pathway has occurred in spastic CP?

A

UMN (corticospinal) pathway

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23
Q

What are the symptoms of quadriplegic spastic CP?

A 
All 4 limbs affected including trunk
Opisthonus
Poor head control
Seizures, moderate LD
History of HIE
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24
Q

Unilateral involvement of the arm and leg, face sparing, fisting of the affected hand, flexed pronated forearm, occurs in what type of cerebral palsy?

A

Hemiplegic spastic cerebral palsy

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25
Q

Tip toe walk is seen in what type of cerebral palsy?

A

Hemiplegic spastic cerebral palsy

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26
Q

Which type of cerebral palsy involves all four limbs, but legs more than arms?

A

Diplegic spastic cerebral palsy

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27
Q

What are three types of dyskinesia seen in dyskinetic cerebral palsy?

A

Chorea
Athetosis
Dystonia

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28
Q

What is dyskinesia?

A

Involuntary, uncontrolled, stereotyped movements

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29
Q

Dyskinetic CP arises from damage to what part of the brain?

A

Basal ganglia or extrapyramidal pathways

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30
Q

What are the symptoms of ataxic/hypotonic CP?

A

Trunk and limb hypotonia
Poor balance
Intention tremor
Ataxic gait

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31
Q

Give two disorders of the anterior horn cell

A

Spinal muscular atrophy

Poliomyelitis

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32
Q

Myasthenia gravis is a disorder of what?

A

Neuromuscular junction

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33
Q

Give three disorders of peripheral nerves

A

Bell’s palsy
Guillain Barre syndrome
Hereditary motor sensory neuropathies

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34
Q

What are the symptoms of muscular disorders?

A

Proximal weakness, wasting, gait disturbance

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35
Q

What investigations are important in muscular disorders?

A

Serum creatinine phosphokinase increases in dystrophies and myopathies
Muscle biopsy
US and MRI
DNA testing

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36
Q

Mutation in survival motor neurone gene produces progressive weakness and wasting in skeletal muscles characteristic of what condition?

A

Spinal muscular atrophy

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37
Q

What is spinal muscular atrophy type 1?

A

Werdnig-Hoffmann disease

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38
Q

Hereditary motor sensory neuropathies lead to what sort of muscular wasting?

A

Symmetrical, slowly progressive, distal > proximal

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39
Q

What biopsy finding is found in Charcot Marie Tooth disease (HMSN)?

A

Onion bulb formation from hypertrophy from demyelination and remyelination

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40
Q

What are the symptoms of Charcot Marie Tooth disease?

A

Onset in 1st decade
Distal atrophy and pes cavus
Legs >arms

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41
Q

What is Guillain Barre syndrome?

A

Acute post-infectious polyneuropathy

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42
Q

What precipitates GBS?

A

2-3 weeks post URTI or campylobacter gastroenteritis

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43
Q

What are the symptoms of GBS?

A

Ascending symmetrical weakness
Loss of reflexes
Autonomic involvement
Bulbar muscle involvement and resp depression

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44
Q

What is the management of GBS?

A

LP - increased CSF protein

IVIG and plasmaphresis

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45
Q

What is Bell’s palsy?

A

Post-infectious isolated paresis of the VIIth nerve

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46
Q

What are the symptoms of Bell’s palsy?

A

Facial drooping and ipsilateral sensory loss, inability to close eye

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47
Q

What treatment may reduce oedema in the facial canal in the first week of Bell’s Palsy?

A

Corticosteroids

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48
Q

Binding of an antibody to ACh receptors in the post-synaptic membrane occurs with what condition?

A

Juvenile myasthenia

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49
Q

What are the symptoms of juvenile myasthenia?

A

Opthalmoplegia and ptosis
Loss of facial expression and difficulty chewing
Fatiguability and proximal weakness

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50
Q

How is juvenile myasthenia diagnosed?

A

Observe improvement after the administration of IV edrophonium.
Test for ACh receptor antibodies

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51
Q

What is a complication of juvenile myasthenia and how is this treated?

A

Myasthenic crisis - respiratory distress

Plasmaphresis

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52
Q

What is the main treatment of juvenile myasthenia?

A

Antimuscarinics such as neostigmine or pyridostigmine

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53
Q

Deletion of what gene and absence of what protein produces Duchenne Muscular Dystrophy?

A

Xp21 (short arm of X chromosome)

Dystrophin (connects cytoskeleton of a muscle fibre to surrounding matrix)

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54
Q

What is the name of the sign seen in DMD when a patient has to use their arms to walk up their own body when getting up from the floor, due to weakness?

A

Gower’s sign

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55
Q

What are the main symptoms of Duchenne Muscular Dystrophy?

A 
Waddling gait
Language delay
Pseudohypertrophy of calves
Slow and clumsy
LD
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56
Q

What laboratory finding is seen in DMD?

A

Elevated serum creatinine phosphokinase (CPK)

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57
Q

What is the management of DMD?

A

Exercise
Stretching
Splints
NPPIV or CPAP for nocturnal hypoxia

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58
Q

How does Becker Muscular Dystrophy differ from DMD?

A

Some functional dystrophin is produced

Progresses more slowly

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59
Q

Violaceous eyelid/knuckle rash and periorbital oedema is seen in what condition?

A

Dermatomyositis

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60
Q

What is the cause of dystrophica myotonica?

A

Nucleotide triplet repeat expansion

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61
Q

How do neonates with dystrophica myotonica present?

A

Hypontonia, feeding and respiratory difficulties due to weakness

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62
Q

Adults with dystrophica myotonica develop what?

A

Baldness
Testicular atrophy
Cardiomyopathy

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63
Q

AR frataxin gene mutation is seen in what disorder?

A

Friedrich ataxia

64
Q

What are the signs and symptoms of Friedrich Ataxia?

A

Ataxia
Distal wasting in the legs
Absent lower limb reflexes
Dysarthria

65
Q

In what condition are cerebellar signs, dystonia, and conjunctival/neck/shoulder telangiectasia seen?

A

Ataxia telangiectasia

66
Q

What malignancy do AT patients have a higher risk of developing?

A

ALL

67
Q

What are three causes of stroke in children?

A

Sickle cell disease
CADASIL
Congenital cyanotic heart disease

68
Q

What is the cause of neural tube defects?

A

Failure of normal fusion of the neural plate to form the neural tube
First 28 days gestation

69
Q

What supplementation reduces the risk of neural tube defects?

A

Folic acid

70
Q

What is spina bifida occulta?

A

Failure of fusion of the vertebral arch, mildest form of spina bifida

71
Q

How is spina bifida occulta identified?

A

X-Ray

Overlying sacral dimple, tuft of hair, lipoma, birth mark

72
Q

What condition is spina bifida occulta associated with?

A

Diastomatomyelia - tethering of the cord

73
Q

What is the difference between a meningocele and a myelomeningocele?

A

Meningocele - herniation of the meninges between vertebrae

Myelomeningocele - herniation of meninges and spinal cord

74
Q

What are the risk factors for spina bifida?

A

Family history
Inadequate folate
Valproate/carbamazepine therapy

75
Q

What are the two types of spina bifida?

A

Occulta - neuro deficit rare

Cystica - myelomeningocele and meningocele

76
Q

What are the implications of myelomeningocele?

A

Sensory loss
Neuropathic bowel and bladder
Hydrocephalus from Chiari II malformation

77
Q

What is myeloschisis?

A

Neural plaque present in some myelomeningocele

78
Q

What are the two types of hydrocephalus?

A

Non-communicating/obstructive

Communication

79
Q

What is hydrocephalus?

A

Build up of CSF leading to ventricular dilatation

80
Q

What are the symptoms of hydrocephalus?

A

Large head
Separated skull sutures
Bulging anterior fontanelle
Distended scalp veins

81
Q

What is the sun setting sign?

A

Fixed downward gaze

Advanced sign of hydrocephalus

82
Q

What is the treatment of hydrocephalus?

A

Ventriculoperitoneal shunt

83
Q

What is neurofibromatosis?

A

Condition where tumours grow in the nervous system

84
Q

What is the gene deletion in neurofibromatosis type 1?

A

Neurofibromin 1 gene microdeletion

17q11.2

85
Q

What are the characteristic symptoms of NFT1?

A 
Café au lait spots
Dermal neurofibromas
Axilliae/inguinal freckling
Lisch nodules on iris
Optic gliomas
Eye protrusion from sphenoid dysplasia
86
Q

What developmental symptoms are seen in NFT1?

A

ADHD

Speech and language delay

87
Q

What can occur to the neurofibromas in NFT1?

A

Sarcomatous change

88
Q

What is the most common feature of NFT2?

A

Bilateral acoustic neuroma

89
Q

What occurs in tuberous sclerosis?

A

Benign tumours grow in brain, liver, heart, kidneys, eyes, lungs, skin.

90
Q

What proteins are absent in tuberous sclerosis?

A

Hamartin or tuberin

91
Q

What lesion is characteristic of tuberous sclerosis?

A

Depigmented ash leaf patches
Fluoresce under UV light
Usually lumbar spine

92
Q

What lesion is characteristic of Sturge-Weber syndrome?

A

Port wine stain (haemangiomatoma)

Facial lesion in distribution of trigeminal nerve

93
Q

What is foetal haemoglobin made from?

A

Two alpha and two beta chains

94
Q

Why does HbF have a higher affinity for oxygen than HbA?

A

Foetal environment is relatively hypoxic

95
Q

What is the Hb level in neonates at birth?

A

14-21.5g/dl (high)

96
Q

Give three causes of anaemia in children

A

Red cell aplasia
Glucose-6-phosphate dehydrogenase deficiency
Haemolytic anaemia

97
Q

What signifies decreased production of red cells?

A

Low reticulocytes

98
Q

If reticulocytes are normal or high, what should you look for?

A

Bilirubin
High - haemolysis
Normal - iron deficiency

99
Q

Which foods are high in iron?

A

Red meat, oily fish, liver and kidney

100
Q

What does iron deficiency cause?

A

Ineffective erythropoeisis

101
Q

What type of anaemia is iron deficiency?

A

Microcytic, hypochromic (low MCV and MCH)

102
Q

What are the symptoms of iron deficiency anaemia?

A

Fatigue, slow feeding, pallor, pica

103
Q

What is the treatment of iron deficiency anaemia?

A

Oral iron supplementation

104
Q

Diamond-Blackfan anaemia, transient erythoblastopenia, and Parvovirus B19 infection all cause what?

A

Red cell aplasia (complete lack of production)

105
Q

How is red cell aplasia diagnosed?

A

Low reticulocytes and Hb
Normal bilirubin
-ve direct antiglobulin test
Absent red cell precursors on BM exam

106
Q

What are the two types of red cell destruction in haemolytic anaemia?

A

Intravascular - circulation

Extravascular - liver or spleen

107
Q

What are three causes of haemolytic anaemia?

A

Spherocytosis
G6PD deficiency
Sickle cell disease
Thalassaemia

108
Q

Haemolytic anaemia leads to…

A

Hepatomegaly and splenomegaly
Increased serum unconjugated bilirubin
Excess urinary urobilinogen

109
Q

What is polychromasia and where is it seen?

A

Lilac reticulocytes on blood film

Haemolytic anaemia

110
Q

Mutations in what genes causes spherocytosis?

A

Gene for spectrin or ankyrin

111
Q

What is the pathophysiology behind spherocytosis?

A

RBC loses its membrane as it passes through the spleen

112
Q

What is the gold standard of diagnosis for spherocytosis?

A

Blood film

113
Q

Why might blood disorders such as spherocytosis cause gallstones?

A

Increased bilirubin excretion

114
Q

What is the management of spherocytosis?

A

Oral folic acid if mild
Splenectomy if severe
Blood transfusion if aplastic crisis

115
Q

What is the commonest red cell enzymopathy?

A

Glucose-6-phosphate dehydrogenase deficiency

116
Q

What is the pattern of inheritance in G6PD deficiency?

A

X-linked recessive

117
Q

What are the possible clinical manifestations of G6PD deficiency?

A

PNJ

Acute haemolysis episodes

118
Q

What may precipitate G6PD deficiency symptoms?

A

Infection
Fava beans
Aspirin, ciprofloxacin, anti-malarials

119
Q

What are the risk factors for sickle cell disease?

A

Black/middle Eastern ethnicity

120
Q

What are the types of sickle cell disease?

A

Sickle cell anaemia
Sickle cell trait
Sickle B-thalassaemia
HBSC disease

121
Q

What causes the sickle shape of red cells in SC disease?

A

Polymerisation of HbS within RBC, which deforms the cell

122
Q

How does sickle cell anaemia differ from sickle cell trait?

A

Anaemia - HbS homozygous

Trait - HbS from one parent, normal beta-globulin gene from the other, so 40% of Hb is HbS

123
Q

What are the symptoms of sickle cell anaemia?

A 
Anaemia and jaundice
Infection from hyposplenism from chronic sickling
Priapism
Splenomegaly
Delayed puberty
124
Q

What is a painful vaso-occlusive crisis?

A

Occlusion of blood vessel causing ischaemia and pain.

125
Q

What can precipitate a vaso-occlusive crisis?

A

Cold weather, exercise, stress, infection, dehydration

126
Q

What are common sites for vaso-occlusive crisis?

A

Hand and foot
Bones of limbs and spine
Acute chest syndrome

127
Q

What is the treatment of sickle cell anaemia?

A

Antibiotic prophylaxis
Folic acid
BM Tx

128
Q

What is the treatment of an acute painful crisis?

A

IV analgesia and fluids
Oxygen
Exchange transfusion

129
Q

What is beta-thalassaemia?

A

Reduced or absent synthesis of beta-globin chains so decreased production of HbA

130
Q

How is beta-thalassaemia diagnosed?

A

Low Hb

Hypochromic cells on film

131
Q

What is the treatment of beta-thalassaemia?

A

Monthly lifelong transfusions
Desferrioxamine
BM transplant

132
Q

What syndrome is autosomally recessive inherited and is characterised by aplastic anaemia, short stature, and development of leukaemia?

A

Fanconi anaemia

133
Q

What is the pattern of inheritance in haemophilia?

A

X-linked recessive

134
Q

Deficiency of what factors causes haemophilia?

A

A - factor VIII

B - factor IX

135
Q

What is the classic presentation of haemophilia?

A

Spontaneous bleeding into joints and muscles
ICH
Excess bleeding

136
Q

What is the treatment of haemophilia?

A

A - recombinant factor VIII

B - recombinant factor IX

137
Q

What is the function of von Willebrand factor?

A

Facilitates platelet adhesion to damaged endothelium

138
Q

What is the pattern of inheritance in von Willebrand disease?

A

Autosomal dominant

139
Q

What are the symptoms of vWD?

A

Bruising
Excessive prolonged bleeding
Mucosal bleeding - epistaxis and menorrhagia

140
Q

What is the treatment of vWD?

A

Desmopressin

141
Q

Vitamin K helps produce which clotting factors?

A

II, VII, IX, and X

Protein C and S

142
Q

Give three causes of petechiae/purpura

A

Thrombocytopenic - ITP, leukaemia, SLE, DIC

Non-thrombocytopenic - HSP, Meningococcal sepsis

143
Q

What occurs with ITP (immune thrombocytopenic purpura)?

A

Destruction of circulating platelets by antiplatelet IgG antibodies
Compensatory increase in megakaryocytes

144
Q

What is the cause of ITP?

A

Idiopathic, precipitated by viral infection 1-2w

145
Q

What are the symptoms of ITP?

A

Petechiae/purpura
Bruising
Epistaxis

146
Q

How is ITP treated?

A

Usually self-resolving

If excessive bleeding - prednisolone, IVIG, IV anti-D, platelet transfusions

147
Q

What are the causes of DIC in children?

A

Severe sepsis or shock

148
Q

What are the laboratory findings in DIC?

A

Thrombocytopenia
Prolonged PT and APTT
Low fibrinogen
Raised FDP and D-dimers

149
Q

What is the risk of recurrent febrile seizures?

A

30%

150
Q

What are two differentials for seizures in children?

A

Breath holding attack

Reflex anoxic seizure (equivalent to a faint in an older child)

151
Q

What happens in a breath holding attack?

A 
Pain or anger followed by brief crying
Deep breath and then stops breathing
Turns blue and limbs extend
Loss of consciousness with a few convulsive jerks
No post ictal phase
152
Q

What EEG abnormalities indicate absence seizures?

A

3Hz spike and wave abnormality

153
Q

What is West’s syndrome and what is the EEG finding?

A

Onset of spasms in first year of life

Hypsarrhythmia

154
Q

What are the red flags for delayed development?

A 
Not smiling/no visual fixation at 6w
Not babbling at a year
Unable to sit supported at a year
Unable to walk at 18m
Hand preference before 18m
No sentences by 2.5 years
155
Q

What is seen on muscular biopsy in DMD?

A

Absent dystrophin

156
Q

What is the most common cause of headache in children?

A

Migraine

Phase 3a (18 decks)

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