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Growth/endocrine/metabolic/nutrition Flashcards

1
Q

What could secondary nocturnal enuresis be caused by?

A

Young children may present this way at first presentation of IDDM

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2
Q

What two other chronic conditions is type I DM associated with?

A

coeliac’s and hypothyroidism

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3
Q

Recommend an insulin regimen for a young child

A

Twice daily - mixture of short and long-acting (30:70 respectively) - 2/3 before breakfast, 1/3 before dinner

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4
Q

What are the symptoms of DKA?

A 
Polyuria
Vomiting
Abdominal Pain
Tachypnoea
Drowsiness, confusion, coma
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5
Q

What long-term complications should you warn about when diagnosing IDDM?

A

Retinopathy
Nephropathy
Heart disease
Neuropathy

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6
Q

In a symptomatic individual what levels of blood glucose would be diagnostic of DM?

A

Fasting >7mmol/L

Random > 11.1 mmol/L

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7
Q

What pH level indicates severe DKA? How does this affect the management?

A

pH <7.1
It affects the presumed fluid deficit the patient has - in severe it is 10% of the patients bodyweight (in moderate/pH<7.3 it is 5% of the patients bodyweight)

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8
Q

What fluid bolus should be given to a patient in DKA and shock? When should insulin be given?

A

10ml/kg of 0.9%NaCl
Thereafter any fluids should contain KCl as insulin will drive the potassium into the cells

Insulin should be given 1-2 hours post-fluids (0.05-0.1 U/kg/hr)

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9
Q

What should a parent do in the event of hypoglycaemia?

A

If conscious give carb containing snack or dextrose tablet
If unable to eat/drink - rub buccal glucose gel
If unconscious give IM glucagon

Get medical help ASAP

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10
Q

When should a child be hospitalised for FTT?

A

Severe (fall of 3 centiles)
<6mo old
Requiring active refeeding
Serious underlying condition that requires investigation

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11
Q

What investigations should be done in a child presenting with FTT?

A 
Bloods - FBC and ferratin (anaemia from coeliac's)
TFTs - hyperthyroidism
CRP, ESR - IBD
Sweat test - CF
MSU - IDDM
Skeletal survey - dwarfism, abuse
DNA PCR if suspect genetic condition
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12
Q

If a young child is found to be >98th centile in weight what is he classed as?

A

obese

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13
Q

Why is sleep important in managing obesity?

A

Sleep deprivation –> low leptin and high ghrelin –> low fullness/high hunger
Sleep apnoeas - ask about snoring and lethargy/tiredness during day

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14
Q

How might hypothyroidism present in a baby?

A 
poor feeding and FTT
Prolonge jaundice
Constipation
pale, cold, mottled baby
Large tongue
Coarse facies
Umbilical hernia
Goitre (rare)
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15
Q

What is the most common aetiology of congenital hypothyroidism?

A

Maldescent of the thyroid - stays just below the tongue

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16
Q

When is a diagnosis of congenital hypothyroidism (cretinism) normally made?

A

Guthrie/heelprick test

Start thyroxine replacement ASAP

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17
Q

What investigations should be done when a child presents with short stature?

A

Monitor growth - growth chart
Measure parents height and discern mid-height (mean of both parents height +/- 7 (+ for boys, - for girls)
Imaging - x-ray of wrist to see development of carpal bones
Bloods to investigate pathological cause - e.g. CRP/ESR for IBD

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18
Q

What are the two types of phenylketonuria?

A

Inborn error of of phenylalanine hydroxylase (good prognosis)
Inborn error of biopterin metabolism (worse prognosis)

Results in accumulation of phenylalanine in the tissues

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19
Q

Management of phenylketonuria?

A

lifelong diet low in phenylalanine (found in protein containing foods - beef, pork, poultry, eggs, cheese etc.)

Regular monitoring of phenylalanine levels - important in pregnant women as high phenylalanine levels are very detrimental to foetus

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20
Q

What is congenital adrenal hyperplasia?

A

Autosomal recessive disorder - 21-hydroxylase deficiency - converts precursors of cortisol and aldosgterone –> high levels of ACTH –> high levels of testosterone

80% = salt losers - vomiting, weight loss, floppiness (adrenal crisis) - hyponatraemic, hypoglycemic, hyperkalaemia

Presents as ambiguous genetalia

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21
Q

Normal puberty?

A 
Male = 10-14
Female = 8.5-12
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22
Q

What condition would be most likely to delay puberty in a female?

A

Turners - 45,X

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23
Q

How would you treat delayed puberty in a male?

A

Oxandolone in a younger patient

Testosterone if older patients

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24
Q

Describe a typical childhood absence seizure case

A

age 3-12yrs
Absence seizure lasting 5-20 seconds - can be precipitated by hyperventilation and has associated automatisms e.g. lip smacking or eye-lid flickering

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25
Management of childhood absence seizures?
95% remission in adolescence Can give sodium valproate Avoid carbamazepine - exacerbates seizures
26
Describe a typical juvenile myoclonic epilepsy case
Teenage girl - exacerbated by lack of sleep, alcohol and flashing lights Random myoclonic jerks of the upper limb, usually in the morning Generalised tonic-clonic +/- absence seizures Drug of choice = sodium valproate
27
Describe a case of benign Rolandic epilepsy
9 year old (onset 3-12 years) Nocturnal, benign seizures - paraesthesia of face unilateral side and facial motor seizure of ipsilateral side No LOC but unable to speak (aphasia), often with salivation Drugs usually not needed
28
What is an infantile spasm?
Onset usually 4-6 months Violent flexor spasm (trunk and head - 2 secs) followed by arm extension (20-30secs) EEG shows hyperarrythmia with high voltage and slow wave Management - Vigabatrin and corticosteroids
29
What is Lennox-Gastaut Syndrome?
Triad of: Infantile spasm Motor regression Characteristic EEG - asynchronous spikes on chaotic background Leads to developmental delay and persistent seizures 5%mortality Management = Vigabatrin + steroids + ACTH
30
General treatment principles of childhood epilepsy?
Tonic-clonic and partials: First line: sodium valproate +/- carbamazepine Second line: Lamotrigine Ketogenic diet may help children with difficult seizures Withdrawal: done slowly after >2 years without seizures
31
What are breath holding attacks?
In toddlers - upset child --> holds breath --> turns blue +/- LOC --> rapid recovery No drugs required, avoid confrontation
32
What are reflexic anoxic seizures?
Brief episodes of asytole triggered by pain, fear and anxiety --> pale, limp and LOC --> tonic-clonic phase Episodes last 30-60 secs, child will feel tired afterwards Most commonly between 6mo-2yrs
33
What type of migraine do children normally get?
Migraine without aura - pulsatile headache in the termporal/frontal region (usually bilateral) which is often accompanied by N+V+abdo pain and/or photo/phonophobia Relieved by rest
34
What common drug is contraindicated when a patient suffers from migraine with aura?
OCP
35
How can an aura present?
Visual disturbance: Positive phenomena - zig-zags Negative phenomena - lose part of vision Auditory disturbance Awareness headache is imminent (<1hr)
36
Management of migraines?
Lifestyle - avoid triggers and promote healthy lifestyle (e.g. adequate sleep) Analgesia - paracetamol --> codeine +/- antiemetic e.g. metaclopramide, prochlorperazine Seratonin (5HT) antagonist e.g. Sumatriptan (intranasal for >12 yrs Prophylaxis - B-blockers - proanolol
37
Where does the problem lie in communicating hydrocephalus?
The arachnoid villi - failure to reabsorb CSF Caused by SAH or meningitis
38
What are the causes of non-communicating hydrocephalus?
Congenital: Chiari malformation - brain/cerebellum extend into foramen magnum Dandy-walker malformation - blocked 4th ventricle outflow Aqueduct stenosis Posterior fossa neoplasms Vascular malformation Intraventricular haemorrhage (preterm)
39
Signs of hydrocephalus?
Enlarged head circumferecne with frontal bossing, distention of scalp veins +/- 'setting sun' eyes Separation of skull sutures with bulging fontanelle Hyperreflexia Spasticity
40
management of hydrocephalus?
Address the cause Ventriculoperitoneal shunt allows drainage of excess fluid NB. infection risk, can get blocked, low pressure headaches (mostly prevented by valve)
41
How does a SAH present? what is the management?
Acute onset of headache, neck stiffness +/- fever May develop --> seizure and coma Signs = retinal haemorrhage CT - blood in CSF, avoid doing a LP Management - surgery or interventional radiology
42
How does a extradural haemorrhage present? what is the management?
Cause = trauma - associated with skull fracture and bleed from middle meningeal artery Reduced conscious level +/- seizures (may be preceded by period of lucidity) Infants may present with anaemia and shock There may be focal neurological signs = dilated ipsilateral pupil, contralateral limb paresis management = Correct hypovolemia, surgery referral
43
What is a classic cause of subdural haematoma?
Non-accidental injury i.e. shaking or direct trauma | Look for retinal haemorrhage
44
How does a subdural haemorrhage present? what is the management?
Increasing headache and confusion Retinal haemorrhage management: CT head Craniotomy and evacuation
45
What is Duchenne's Muscular Dystrophy?
X-linked recessive disorder (1 in 4000 males) characterised by progressive and eventually lethal muscle dysfunction (prognosis = late 20's) Deletion of X chromosome = no dystrophin --> progressive muscular wasting Sub-type = Becker muscular dystrophy - some dystrophin produced so better prognosis (death at 40)
46
Symptoms of Duchenne's?
Clumsy weak child with a waddling gait (+/- language delay) Slow running, difficulty with stairs Eventually --> respiratory failure and cardiomyopathy
47
Signs of Duchenne's?
Gower's sign = stands up with arms on legs (NB. normal in children <3 yrs) Joint contractures and scoliosis pseudo hypertrophy of calves - fat takes place of muscle
48
Investigations into Duchenne's?
Bloods - CPK very high (creatinine phosphokinase) DNA assays Muscle biopsy
49
Aetiology of neural tube defects?
Failure of neural tube closure in first 28 days after conception Incidence greatly reduced in last 30-40 years because of improved nutrition an folic acid supplementation
50
Presentation of spina bifida occulta?
Failure of the vertebral arch to close but spinal cord remains in torso Presents with overlying skin lesion with tuft of hair Bowel/bladder function may be affected - normally incidental finding No management usually required - unless tethering of spinal cord
51
Presentation of meningocele?
Protrusion of meninges outside of body with overlying skin - swelling on back Management = surgical repair
52
Presentation of myelomeningocoele?
Failure of vertebral arch, spinal cord and meninges to close Protrusion of exposed spinal cord +/- imperforate anus ``` Associated with: leg imbalance Sensory loss Bladder/bowel denervation Scoliosis ```
53
Presentation of anencephaly?
Incomplete closure of neural plate ~21 days --> incomplete skull/brain development Exposed brain tissue at birth Babies die within first week
54
Presentation of encephalocoele?
Incomplete closure of neural plate ~25 days --> failure of posterior skull to close --> herniation of brain tissue into sac Skin covered sac on back of neck - requires surgical correction Complication = poor neurological development
55
What is plagiocephaly and what is it caused by?
Flat head syndrome Cause: Excessive lying down supine - higher prevalence amongst 'floppy babies'
56
management of plagiocephaly?
cranial remoulding head bands | Will improve as baby becoems more mobile
57
Causes of malnutrition?
Inadequate intake Inadequate retention - vomiting, eating disorder Malabsorption - IBD, coeliac Increased requirement - chronic illness
58
Assessment of nutrition?
Diet diary Antropometry - height, weight, upper arm circumference, triceps skin fold thickness Bloods - albumin, vitamins/minerals (e.g. Fe), immunodeficiency (reduced WCC) Bloods - glucose, U+E's, LFTs
59
What are wasted and stunted growth patterns?
Wasted = 70% weight/age, 70% weight/height | Stunted 70% weight/age, 85% height/age
60
Presentations of malnutrition?
Marasmus - wasted/wisened appearance, apathetic kwashiokor - oedema, sparse and depigmentated hair, angular stomatitis, diarrhoea, distended abdomen, hepatomegaly
61
management of malnutrition?
Correct hypoglycemia, dehydration and hypothermia Correct electrolytes Correct mineral/vitamin deficiency Parenteral feeds - NG tube (beware of re-feeding syndrome)
62
What is rickets caused by?
Vit D deficiency --> increased bone resorption inadequate dietary intake (breast fed exclusively for >12 months), lack of sun exposure, malabsorption, chronic disease (liver/renal), drugs (anticonvulsants) and hereditary syndromes
63
Presentation of rickets?
``` FTT/short stature Bowed legs Hypoglycaemia (infants) - tetany/seizures Harrisons sulcus Frontal bossing Expansion of metaphyses (esp. wrists) ```
64
Investigations for rickets?
Diet diary/Hx ``` Bloods: Serum calcium and albumin (low or normal) phosphorous PTH (usually elevated) ALP (+++) LFTs and U+Es to exclude pathology ``` X-ray - wrists show widened epiphyses
65
Hirsutism causes?
``` PCOS Cushing's Congenital adrenal hyperplasia Obesity (over conversion of oestrogens to androgens) Adrenal tumour androgen secreting ovarian tumour Phenytoin ```

Paediatrics (14 decks)

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