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
2
Q
What are the characteristics of migraine in children?
A
Bilateral/unilateral pulsatile pain over temporal/frontal area
Nausea, vomiting, photophobia, phonophobia
3
Q
What are the types of visual disturbance in migraine?
A
Negative phenomena - hemianopia or scotoma
Positive phenomena - fortification spectra
4
Q
What is the prodrome in migraine?
A
Tiredness
Difficulty concentrating
Autonomic features
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
6
Q
What is a febrile seizure?
A
A seizure accompanied by a fever in the absence of intracranial infection
7
Q
What are the risk factors for febrile seizures?
A
Family history
Iron deficiency
8
Q
What type of seizures are seen in febrile seizures
A
Tonic-clonic
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
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
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
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
13
Q
What are the features of pyramidal tract disorders?
A
Weakness
Brisk hyperreflexia
Fine finger movements lost
14
Q
Difficulties initiating movement, dystonia, and dyskinesia, are seen in what group of disorders?
A
Basal ganglia
15
Q
What are the features of cerebellar disorders?
A
Difficulties with posture Dysmetria Dysdiadochokinesis Wide based gait Nystagmus
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
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
18
Q
Cerebral palsy is used as a term for brain injures up to the age of how many years?
A
2 years
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
20
Q
What are the three forms of cerebral palsy?
A
Spastic - 90%
Dyskinetic - 6%
Ataxic - 4%
21
Q
Name three early features of cerebral palsy
A
Abnormal limb/trunk posture/tone
Delayed motor milestones
Feeding difficulties
Persisting primitive reflexes
22
Q
Damage to what pathway has occurred in spastic CP?
A
UMN (corticospinal) pathway
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
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
25
Tip toe walk is seen in what type of cerebral palsy?
Hemiplegic spastic cerebral palsy
26
Which type of cerebral palsy involves all four limbs, but legs more than arms?
Diplegic spastic cerebral palsy
27
What are three types of dyskinesia seen in dyskinetic cerebral palsy?
Chorea
Athetosis
Dystonia
28
What is dyskinesia?
Involuntary, uncontrolled, stereotyped movements
29
Dyskinetic CP arises from damage to what part of the brain?
Basal ganglia or extrapyramidal pathways
30
What are the symptoms of ataxic/hypotonic CP?
Trunk and limb hypotonia
Poor balance
Intention tremor
Ataxic gait
31
Give two disorders of the anterior horn cell
Spinal muscular atrophy
| Poliomyelitis
32
Myasthenia gravis is a disorder of what?
Neuromuscular junction
33
Give three disorders of peripheral nerves
Bell's palsy
Guillain Barre syndrome
Hereditary motor sensory neuropathies
34
What are the symptoms of muscular disorders?
Proximal weakness, wasting, gait disturbance
35
What investigations are important in muscular disorders?
Serum creatinine phosphokinase increases in dystrophies and myopathies
Muscle biopsy
US and MRI
DNA testing
36
Mutation in survival motor neurone gene produces progressive weakness and wasting in skeletal muscles characteristic of what condition?
Spinal muscular atrophy
37
What is spinal muscular atrophy type 1?
Werdnig-Hoffmann disease
38
Hereditary motor sensory neuropathies lead to what sort of muscular wasting?
Symmetrical, slowly progressive, distal > proximal
39
What biopsy finding is found in Charcot Marie Tooth disease (HMSN)?
Onion bulb formation from hypertrophy from demyelination and remyelination
40
What are the symptoms of Charcot Marie Tooth disease?
Onset in 1st decade
Distal atrophy and pes cavus
Legs >arms
41
What is Guillain Barre syndrome?
Acute post-infectious polyneuropathy
42
What precipitates GBS?
2-3 weeks post URTI or campylobacter gastroenteritis
43
What are the symptoms of GBS?
Ascending symmetrical weakness
Loss of reflexes
Autonomic involvement
Bulbar muscle involvement and resp depression
44
What is the management of GBS?
LP - increased CSF protein
| IVIG and plasmaphresis
45
What is Bell's palsy?
Post-infectious isolated paresis of the VIIth nerve
46
What are the symptoms of Bell's palsy?
Facial drooping and ipsilateral sensory loss, inability to close eye
47
What treatment may reduce oedema in the facial canal in the first week of Bell's Palsy?
Corticosteroids
48
Binding of an antibody to ACh receptors in the post-synaptic membrane occurs with what condition?
Juvenile myasthenia
49
What are the symptoms of juvenile myasthenia?
Opthalmoplegia and ptosis
Loss of facial expression and difficulty chewing
Fatiguability and proximal weakness
50
How is juvenile myasthenia diagnosed?
Observe improvement after the administration of IV edrophonium.
Test for ACh receptor antibodies
51
What is a complication of juvenile myasthenia and how is this treated?
Myasthenic crisis - respiratory distress
| Plasmaphresis
52
What is the main treatment of juvenile myasthenia?
Antimuscarinics such as neostigmine or pyridostigmine
53
Deletion of what gene and absence of what protein produces Duchenne Muscular Dystrophy?
Xp21 (short arm of X chromosome)
| Dystrophin (connects cytoskeleton of a muscle fibre to surrounding matrix)
54
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?
Gower's sign
55
What are the main symptoms of Duchenne Muscular Dystrophy?
```
Waddling gait
Language delay
Pseudohypertrophy of calves
Slow and clumsy
LD
```
56
What laboratory finding is seen in DMD?
Elevated serum creatinine phosphokinase (CPK)
57
What is the management of DMD?
Exercise
Stretching
Splints
NPPIV or CPAP for nocturnal hypoxia
58
How does Becker Muscular Dystrophy differ from DMD?
Some functional dystrophin is produced
| Progresses more slowly
59
Violaceous eyelid/knuckle rash and periorbital oedema is seen in what condition?
Dermatomyositis
60
What is the cause of dystrophica myotonica?
Nucleotide triplet repeat expansion
61
How do neonates with dystrophica myotonica present?
Hypontonia, feeding and respiratory difficulties due to weakness
62
Adults with dystrophica myotonica develop what?
Baldness
Testicular atrophy
Cardiomyopathy
63
AR frataxin gene mutation is seen in what disorder?
Friedrich ataxia
64
What are the signs and symptoms of Friedrich Ataxia?
Ataxia
Distal wasting in the legs
Absent lower limb reflexes
Dysarthria
65
In what condition are cerebellar signs, dystonia, and conjunctival/neck/shoulder telangiectasia seen?
Ataxia telangiectasia
66
What malignancy do AT patients have a higher risk of developing?
ALL
67
What are three causes of stroke in children?
Sickle cell disease
CADASIL
Congenital cyanotic heart disease
68
What is the cause of neural tube defects?
Failure of normal fusion of the neural plate to form the neural tube
First 28 days gestation
69
What supplementation reduces the risk of neural tube defects?
Folic acid
70
What is spina bifida occulta?
Failure of fusion of the vertebral arch, mildest form of spina bifida
71
How is spina bifida occulta identified?
X-Ray
| Overlying sacral dimple, tuft of hair, lipoma, birth mark
72
What condition is spina bifida occulta associated with?
Diastomatomyelia - tethering of the cord
73
What is the difference between a meningocele and a myelomeningocele?
Meningocele - herniation of the meninges between vertebrae
| Myelomeningocele - herniation of meninges and spinal cord
74
What are the risk factors for spina bifida?
Family history
Inadequate folate
Valproate/carbamazepine therapy
75
What are the two types of spina bifida?
Occulta - neuro deficit rare
| Cystica - myelomeningocele and meningocele
76
What are the implications of myelomeningocele?
Sensory loss
Neuropathic bowel and bladder
Hydrocephalus from Chiari II malformation
77
What is myeloschisis?
Neural plaque present in some myelomeningocele
78
What are the two types of hydrocephalus?
Non-communicating/obstructive
| Communication
79
What is hydrocephalus?
Build up of CSF leading to ventricular dilatation
80
What are the symptoms of hydrocephalus?
Large head
Separated skull sutures
Bulging anterior fontanelle
Distended scalp veins
81
What is the sun setting sign?
Fixed downward gaze
| Advanced sign of hydrocephalus
82
What is the treatment of hydrocephalus?
Ventriculoperitoneal shunt
83
What is neurofibromatosis?
Condition where tumours grow in the nervous system
84
What is the gene deletion in neurofibromatosis type 1?
Neurofibromin 1 gene microdeletion
| 17q11.2
85
What are the characteristic symptoms of NFT1?
```
Café au lait spots
Dermal neurofibromas
Axilliae/inguinal freckling
Lisch nodules on iris
Optic gliomas
Eye protrusion from sphenoid dysplasia
```
86
What developmental symptoms are seen in NFT1?
ADHD
| Speech and language delay
87
What can occur to the neurofibromas in NFT1?
Sarcomatous change
88
What is the most common feature of NFT2?
Bilateral acoustic neuroma
89
What occurs in tuberous sclerosis?
Benign tumours grow in brain, liver, heart, kidneys, eyes, lungs, skin.
90
What proteins are absent in tuberous sclerosis?
Hamartin or tuberin
91
What lesion is characteristic of tuberous sclerosis?
Depigmented ash leaf patches
Fluoresce under UV light
Usually lumbar spine
92
What lesion is characteristic of Sturge-Weber syndrome?
Port wine stain (haemangiomatoma)
| Facial lesion in distribution of trigeminal nerve
93
What is foetal haemoglobin made from?
Two alpha and two beta chains
94
Why does HbF have a higher affinity for oxygen than HbA?
Foetal environment is relatively hypoxic
95
What is the Hb level in neonates at birth?
14-21.5g/dl (high)
96
Give three causes of anaemia in children
Red cell aplasia
Glucose-6-phosphate dehydrogenase deficiency
Haemolytic anaemia
97
What signifies decreased production of red cells?
Low reticulocytes
98
If reticulocytes are normal or high, what should you look for?
Bilirubin
High - haemolysis
Normal - iron deficiency
99
Which foods are high in iron?
Red meat, oily fish, liver and kidney
100
What does iron deficiency cause?
Ineffective erythropoeisis
101
What type of anaemia is iron deficiency?
Microcytic, hypochromic (low MCV and MCH)
102
What are the symptoms of iron deficiency anaemia?
Fatigue, slow feeding, pallor, pica
103
What is the treatment of iron deficiency anaemia?
Oral iron supplementation
104
Diamond-Blackfan anaemia, transient erythoblastopenia, and Parvovirus B19 infection all cause what?
Red cell aplasia (complete lack of production)
105
How is red cell aplasia diagnosed?
Low reticulocytes and Hb
Normal bilirubin
-ve direct antiglobulin test
Absent red cell precursors on BM exam
106
What are the two types of red cell destruction in haemolytic anaemia?
Intravascular - circulation
| Extravascular - liver or spleen
107
What are three causes of haemolytic anaemia?
Spherocytosis
G6PD deficiency
Sickle cell disease
Thalassaemia
108
Haemolytic anaemia leads to...
Hepatomegaly and splenomegaly
Increased serum unconjugated bilirubin
Excess urinary urobilinogen
109
What is polychromasia and where is it seen?
Lilac reticulocytes on blood film
| Haemolytic anaemia
110
Mutations in what genes causes spherocytosis?
Gene for spectrin or ankyrin
111
What is the pathophysiology behind spherocytosis?
RBC loses its membrane as it passes through the spleen
112
What is the gold standard of diagnosis for spherocytosis?
Blood film
113
Why might blood disorders such as spherocytosis cause gallstones?
Increased bilirubin excretion
114
What is the management of spherocytosis?
Oral folic acid if mild
Splenectomy if severe
Blood transfusion if aplastic crisis
115
What is the commonest red cell enzymopathy?
Glucose-6-phosphate dehydrogenase deficiency
116
What is the pattern of inheritance in G6PD deficiency?
X-linked recessive
117
What are the possible clinical manifestations of G6PD deficiency?
PNJ
| Acute haemolysis episodes
118
What may precipitate G6PD deficiency symptoms?
Infection
Fava beans
Aspirin, ciprofloxacin, anti-malarials
119
What are the risk factors for sickle cell disease?
Black/middle Eastern ethnicity
120
What are the types of sickle cell disease?
Sickle cell anaemia
Sickle cell trait
Sickle B-thalassaemia
HBSC disease
121
What causes the sickle shape of red cells in SC disease?
Polymerisation of HbS within RBC, which deforms the cell
122
How does sickle cell anaemia differ from sickle cell trait?
Anaemia - HbS homozygous
| Trait - HbS from one parent, normal beta-globulin gene from the other, so 40% of Hb is HbS
123
What are the symptoms of sickle cell anaemia?
```
Anaemia and jaundice
Infection from hyposplenism from chronic sickling
Priapism
Splenomegaly
Delayed puberty
```
124
What is a painful vaso-occlusive crisis?
Occlusion of blood vessel causing ischaemia and pain.
125
What can precipitate a vaso-occlusive crisis?
Cold weather, exercise, stress, infection, dehydration
126
What are common sites for vaso-occlusive crisis?
Hand and foot
Bones of limbs and spine
Acute chest syndrome
127
What is the treatment of sickle cell anaemia?
Antibiotic prophylaxis
Folic acid
BM Tx
128
What is the treatment of an acute painful crisis?
IV analgesia and fluids
Oxygen
Exchange transfusion
129
What is beta-thalassaemia?
Reduced or absent synthesis of beta-globin chains so decreased production of HbA
130
How is beta-thalassaemia diagnosed?
Low Hb
| Hypochromic cells on film
131
What is the treatment of beta-thalassaemia?
Monthly lifelong transfusions
Desferrioxamine
BM transplant
132
What syndrome is autosomally recessive inherited and is characterised by aplastic anaemia, short stature, and development of leukaemia?
Fanconi anaemia
133
What is the pattern of inheritance in haemophilia?
X-linked recessive
134
Deficiency of what factors causes haemophilia?
A - factor VIII
| B - factor IX
135
What is the classic presentation of haemophilia?
Spontaneous bleeding into joints and muscles
ICH
Excess bleeding
136
What is the treatment of haemophilia?
A - recombinant factor VIII
| B - recombinant factor IX
137
What is the function of von Willebrand factor?
Facilitates platelet adhesion to damaged endothelium
138
What is the pattern of inheritance in von Willebrand disease?
Autosomal dominant
139
What are the symptoms of vWD?
Bruising
Excessive prolonged bleeding
Mucosal bleeding - epistaxis and menorrhagia
140
What is the treatment of vWD?
Desmopressin
141
Vitamin K helps produce which clotting factors?
II, VII, IX, and X
| Protein C and S
142
Give three causes of petechiae/purpura
Thrombocytopenic - ITP, leukaemia, SLE, DIC
| Non-thrombocytopenic - HSP, Meningococcal sepsis
143
What occurs with ITP (immune thrombocytopenic purpura)?
Destruction of circulating platelets by antiplatelet IgG antibodies
Compensatory increase in megakaryocytes
144
What is the cause of ITP?
Idiopathic, precipitated by viral infection 1-2w
145
What are the symptoms of ITP?
Petechiae/purpura
Bruising
Epistaxis
146
How is ITP treated?
Usually self-resolving
| If excessive bleeding - prednisolone, IVIG, IV anti-D, platelet transfusions
147
What are the causes of DIC in children?
Severe sepsis or shock
148
What are the laboratory findings in DIC?
Thrombocytopenia
Prolonged PT and APTT
Low fibrinogen
Raised FDP and D-dimers
149
What is the risk of recurrent febrile seizures?
30%
150
What are two differentials for seizures in children?
Breath holding attack
| Reflex anoxic seizure (equivalent to a faint in an older child)
151
What happens in a breath holding attack?
```
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
What EEG abnormalities indicate absence seizures?
3Hz spike and wave abnormality
153
What is West's syndrome and what is the EEG finding?
Onset of spasms in first year of life
| Hypsarrhythmia
154
What are the red flags for delayed development?
```
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
What is seen on muscular biopsy in DMD?
Absent dystrophin
156
What is the most common cause of headache in children?
Migraine
