Level 1 - Endocrine, Neuro Flashcards
Define T1DM?
- Autoimmune disorder caused by T-cell-mediated destruction of pancreatic beta-cells, leading to insulin deficiency and hyperglycaemia
Define MODY?
- Maturity-onset diabetes of the young (MODY)
• Autosomal dominant kind of non-ketotic diabetes
• Impaired insulin secretion
How common is T1DM and when is most common?
- 3rd most common chronic disease in UK children
- 90% type 1 in children
- Peak onset 5-7 years with second peak at or just before puberty
RF for T1DM?
- Family history of type 1 diabetes
* IDDM1 gene represents the HLA-greatest susceptibility
Aetiology of T1DM?
• Destruction of pancreatic Beta-cells in Islet of Langerhans by an autoimmune process (anti-islet cell, anti-insulin, anti-GAD antibodies)
Pathophysiology of T1DM?
• T-Cell activation leads to B-Cell inflammation (insulitis) and cell loss via apoptosis
What can cause DKA in T1DM?
• Can be caused by infection or non-compliance
Symptoms and Signs of T1DM?
- Onset over quick
- Polyuria, polydipsia, weight loss
- Young children may get secondary enuresis
- Skin infections (Candida)
- DKA
Symptoms and Signs of DKA?
- Confusion
- Vomiting
- Abdominal pain
- Dehydration
- Deep and Rapid breathing (Kussmaul)
- Ketotic breaths
- Shock
- Cerebral oedema in 1%
Diagnosis of T1DM?
- Symptoms of hyperglycaemia plus:
• Random blood glucose ≥11.1mmol/L
• Fasting blood glucose ≥7mmol/L - Raised venous blood glucose on 2 or more occasions with no symptoms
What other tests can be done in T1DM?
- Autoantibody to islet-cells, insulin, GluAD, IA2
- Screen for other autoimmune diseases (coeliac, TFTs)
Definition of DKA?
- Hyperglycaemia (≥11.1mmol/L and present in urine)
- Ketone (blood >3mmol/L and present in urine)
- Acidosis (venous pH <7.3 and bicarbonate <15mmol/L)
Where is T1DM managed and what education is given?
- Managed by MDT paediatric diabetes care team
- Intensive Education on disease
• Understanding of disease and insulin devices
• Adjustments in insulin doses for diet, illness
• Finger prick monitoring and recognising hypoglycaemia
• Local voluntary groups ‘Diabetes UK’
Diet and blood glucose monitoring needed in T1DM?
- Diet
• Referral to paediatric dietician
• High complex carbohydrates and relatively low fat content (<30% of total calories)
• High fibre diet - Blood glucose monitoring
• Aim 4-6mmol/L but anywhere from 4-10mmol/L
• Regular glucose monitoring and blood ketone testing when ill
• HbA1c every 4 months, maintain <58mmol/mol
Drug treatment of T1DM?
- Insulin therapy
• 1/3 rapid acting and 2/3 long acting
• May benefit from continuous SC insulin infusion
• Rotation of injection site prevents lipohypertrophy
Screening needed in T1DM?
- Microalbuminuria screening every appointment
- Retinopathy screening annually
Management of DKA in T1DM?
• Get senior help
• Do GCS
• Resuscitate
0.9% saline to correct dehydration (correct gradually over 48 hours)
Consider admission to ITU if BP dropping
• Confirm DKA
History
Finger-prick glucose and ketones
VBG
Urine dip for ketones/glucose
• Investigations
Weight, FBC, U&Es, glucose, Ca, blood gas, ECG (for hyper/hypokalaemia)
Assess dehydration to calculate fluid deficit and maintenance
• IV fluids
0.9% saline with 20mmol KCl/500mL
Add 5% glucose when blood glucose <14mmol/L
After 12 hours, change to 0.45% saline
• IV insulin (after 1 hour of fluids)
Fast acting insulin (0.1 unit/kg/hour), can reduce once pH, normalises
Complications of T1DM?
- Delayed sexual maturity
- Frequent injections and blood tests
- Impaired body image
- Parental overprotection
Define hypoglycaemia? What are the 3 criteria?
- Can be defined as glucose <3mmol/L
- The diagnosis of hypoglycaemia rests on three criteria (Whipple’s triad):
• Plasma hypoglycaemia.
• Symptoms attributable to a low blood sugar level.
• Resolution of symptoms with correction of the hypoglycaemia
Causes of hypoglycaemia?
- Due to excess of insulin or oral hypoglycaemic agents combined with reduced sugar intake and increased activity
- Causes:
• Excess exogenous insulin
• Persistent hypoglycaemic hyperinsulinism of infancy
• Insulinoma
• Drug (sulphonylureas, aspirin, alcohol)
• Hormonal deficiencies (GH, ACTH, Addisons)
Symptoms and signs of hypoglycaemia?
- Sweating
- Pallor
- Pins and needles in lips and tongue
- Slurring of speech, confusion, change of behaviour
- Irritability, headache, seizures and coma
Investigations in hypoglycaemia?
- Bedside blood glucose test
- Laboratory blood glucose
- Blood and urine for toxicology
- GH, IGF-1, cortisol, insulin, C-peptide, fatty acids, ketones , glycerol
Management of mild/moderate hypoglycaemia?
• Oral glucose (tablets or sugary drink)
Management of severe hypoglycaemia?
- Get IV access
- Intra-oral Gluco-Gel (if no IV access)
- Glucose 5mL/kg of 10% dextrose by IVI (or by rectal tube if no IV access)
- Glucagon 0.5-1mg IM/IV
- If glucose not responding, give IV dexamethasone
Define FTT?
- Poor weight gain in infancy (falling across centile lines)
- Mild FTT being fall across 2 centiles, severe FTT across 3 centiles
How common is FTT?
- 95% due to not enough food offered or taken
- 5% of children will cross two line
- Big cause worldwide is poverty
Causes of FTT - most common?
• Normal child of small stature
Causes of FTT - inadequate intake?
Non-Organic
- Inadequate availability of food
- Psychosocial deprivation
- Neglect/Child Abuse
Organic
- Impaired suck/swallow (CP, cleft palate)
Chronic illness (Crohn’s, chronic renal failure, CF, lung disease)
Causes of FTT - inadequate retention?
Vomiting, GORD
Causes of FTT - malabsorption?
Coeliac, CF, cow’s milk protein intolerance, NEC
Causes of FTT - syndrome that fail to utilise nutrients?
Increased requirements in HIV, malignancy, CF, thyrotoxicosis, CHD
Normal but short infants present as what?
- Normal but short infants usually happy, no symptoms, responsive and development is satisfactory
Difference in acute of chronic FTT?
- Recent onset FTT may retain height but chronic FTT will compromise growth in height too
History for FTT?
Food diary, exact details of feeding patterns
Is the child well with lots of energy, tired, diarrhoea, vomiting, cough?
Was the child premature, IUGR or significant medial problems?
Growth in other family members or illnesses in family?
Child development normal?
Psychosocial problems at home?
Examination findings in FTT?
Signs of dysmorphism
Malabsorption (thin buttocks, distended abdomen)
Respiratory disease (chest wall deformity, clubbing)
Investigations to find cause of FTT?
Bloods
- FBC (anaemia, neutropenia, lymphopenia)
- Creatinine, U&Es, electrolytes and bone profile (Renal failure, metabolic disorders, William syndrome)
- LFTs (Liver disease, malabsorption, metabolic disease), TFTs (hypo/hyperthyroidism)
- CRP
- Ferritin (iron def anaemia)
- IgA TTG (coeliac disease)
Urine and stool M,C, & S
Karyotyping
CXR and sweat test (CF)
Non-Organic management of FTT?
- Home visits by health visitor to assess eating behaviour and provide support
- Dietician may be helpful
- Clinical psychologists, SALT, nursery teachers all useful
Organic management of FTT?
• Treat underlying cause
Prognosis of FTT?
• Non-organic tend to continue to under-eat and there is a lasting deficit but impairment of development is usually only short-term
What is CP?
Cerebral palsy
Define CP?
- Chronic disorders of posture and movement caused by non-progressive CNS lesions sustained before 2 years old
- Results in motor delay, evolving CNS signs, learning disability and epilepsy
Classification of CP?
1) spastic (90%),
2) dyskinetic (6%)
3) ataxic (4%)
Distribution of affected limbs and functional limitation in CP?
Distribution pattern of affected limbs: hemiplegic, quadriplegic, diplegic
- Functional limitations: motor function and manual ability affected
How common is CP?
- Risk increases with more premature infants
- Occurs in 1 in 500 births
Risk factors for CP - antenatally?
Preterm, congenital malformations, multiple births, intrauterine infection, alcohol, smoking
Risk factors for CP - perinatally?
Low birth weight, neonatal encephalopathy, sepsis
Risk factors for CP - postnatally?
Meningitis, intracranial haemorrhage, trauma, hyperbilirubinemia, hypoxia
Aetiology of CP?
• Antenatal (80%) Vascular occlusion, cortical migration disorders, teratogenic, toxins • HIE (10%) • Postnatal (10%) Meningitis, infections, head injury
Early features in CP?
- Abnormal limb tone or posture with delayed motor milestones
- Persistent primitive reflexes
- Feeding difficulties – oromotor incoordination, slow feeding, gagging
- Abnormal gait
- Asymmetrical hand function <12 months
Symptoms of spastic CP?
- Damage to upper motor neurone (pyramidal or corticospinal tract) pathway
- Limb tome increased (spasticity) – dynamic catch hallmark
- Brisk deep tendon reflexes and extensor plantar responses
- Leg valgus/varus, hip flexion, often internal rotation, wrist and elbow flexed
Types of spastic CP?
Hemiplegia
- Unilateral involvement of arm and leg (arm>leg)
- Often fisting of affected hand, flexed arm, pronated forearm, asymmetric hand preference
- Tiptoe walk
Quadriplegia
- Most severe form, all four limbs, extensor posturing and poor head control, low central tone
- Associated with microcephaly, intellectual impairment
Diplegia
- Both legs affected worse than arms, child looks normal until picked up
- Walking/gait is abnormal
Symptoms of dyskinetic CP?
- Due to damage to basal ganglia and extrapyramidal
- Associated with kernicterus, HIE
- Involuntary, uncontrolled movements often more evident with active movement or stress
- Muscle tone may be spasticity/hypotonia
Describe features of dyskinetic CP?
Chorea- irregular, sudden and brief non-reparative movements
Athetosis- slow withering movements occurring more distally such as fanning of the fingers
Dystonia- simultaneous contraction of agonist and antagonist muscles of the trunk and proximal muscles twisted appearance
Symptoms of ataxic CP?
- Signs occur on same side of lesion but usually symmetrical
- Early trunk, limb hypotonia
- Poor balance, delayed motor development
- Incoordinate movements, ataxic gait
Diagnosis of CP?
- Clinical Diagnosis determined upon symptoms
- MRI imaging
General management of CP?
- Complex MDT input with carers
• Live a high QoL and ty for full integration into society
Specialist management of CP?
- Physiotherapy • Posture and movement • Improve symmetry, joint movement, muscle power - Communication • SALT and language therapy - Learning support • Tailored education programmes - Orthopaedic Surgeons • Callipers may prevent deformity
Medical management of CP?
• Botulinum toxin benefits many children with spasticity
Complications of CP?
- muscle spasms and contractures
- Feeding difficulties and nutritional problems
- Scoliosis, hip dislocation and other orthopaedic problems
- Epilepsy
Define febrile fit?
- Seizure associated with fever in a young child who is otherwise neurologically normal
- Can occur in infants or small children
Typical fit in febrile fit?
- Most last 1/2mins or few secs. Others last >10mins. No previous indications of neuro disease.
Which children have higher risk of subsequent epilepsy in febrile fits?
lengthy febrile seizures affect only part of the body; recur within 24hrs, or who have neurological abnormalities
Categories of febrile fits?
o Simple febrile seizures (typical): generalised tonic-clonic, lasting <10mins with associated fever.
o Complex febrile seizures (atypical): occur in up to 15% of cases and characterised by focal seizure activity or prolonged seizure longer than 10 min, or multiple seizures in a day. 4-12% of subsequent epilepsy
How common are febrile fits?
- 4% of children between 6 months – 6 years
- Little risk of epilepsy <3%
Risk factors for febrile fits?
- ½ have no risk factors
o A first-degree relative who has had a febrile seizure
o A relative with epilepsy
Cause of febrile fits?
o The mechanisms causing febrile seizures are not known
o Infections
Viral infections, otitis media, and tonsillitis are the most common causes
Other causes include urinary tract infection, gastroenteritis, lower respiratory tract infection, and post-immunization reactions
Symptoms and signs of febrile fits?
- Single generalised tonic-clonic, symmetrical seizure
- <15 minutes
- Fever
DDx of febrile fits?
- Meningo-encephalitis
- Epilepsy
- CNS Lesion
- Trauma
- Low glucose, calcium, magnesium
Diagnosis of febrile fits?
- Can be clinical diagnosis but think about differentials if atypical
Immediate management of febrile fits?
o ABCDE
Protect child from injury, note the time
When seizure stops, put child in recovery position
Management of febrile fits if >5 mins?
• Rectal diazepam repeated once after 5 minutes if the seizure has not stopped or one dose of buccal midazolam
Management if seizure lasts >10 mins?
o If seizure lasts for >10 minutes, treat as status epilepticus
o Measure blood glucose if child cannot be roused
When to arrange immediate paediatric hospital assessment in febrile fits?
o This is the child’s 1st febrile seizure or if it is a subsequent febrile seizure and the child has not previously been assessed by a paediatrician.
o Uncertainty about the cause of the seizure, atypical symptoms
o The child is less than 18 months of age
Education about of febrile fits?
o Inform parents that febrile seizures are not the same as epilepsy. The risk of epilepsy developing later is low but slightly higher than the general population. Not harmful to the child. About 1 in 3 children will have another febrile seizure
Management of febrile fit - next time at home?
Protect and not restrain them or put anything in their mouth.
Place them in the recovery position when the seizure stops.
Seek medical advice if a seizure lasts for less than 5 minutes, or call an ambulance if the seizure continues for more than 5 minutes
How to manage fever in future in febrile fits?
o Advise parents about managing fever, but explain that reducing fever does not prevent recurrence. Paracetamol/ibuprofen and hydration key
