Faltering growth - Diagnosis, Cystic fibrosis, Coeliac disease, Cleft lip and palate

Question 1

Weight loss after birth
-what is normal
-when to worry

Answer 1

Up to 10% weight loss - normal
-regained before 3wks

If 10%+ lost or weight not regained by 3wks => referral for feeding advice

Question 2

Faltering growth after 1st days
-when to suspect faltering growth
-investigations
-management

Answer 2

BW U9th centile => fall by 1 weight centile
BW 9-91st centile => fall by 2 weight centiles
BW 91st centile+ => fall by 3 weight centiles

Current weight below 2nd centile regardless of BW

Plot on growth chart
If concerned over height => calculate mid parental height
-if child height below range of predicted (more than 2 centiles below mid-parental centile) => undernutrition or growth disorder

If concerned about growth => determine BMI centile
U2nd centile => undernutrition or small build
U0.4th centile => undernutrition

ROUTINE REFERRAL TO PAEDS

Question 2

Risk factors for weight loss

Answer 2

Feeding problems
-poor latch
-not enough breastmilk
-breast problems (mastitis, pain, thrush)

Medical
-GERD
-cleft palate,lip
-poor neuromotor coordination
-poor appetite

Environmental
-maltreatment
-poor parent/child interaction or feeding skills
-health religious beliefs => restricted diet
-poor access to food

Inadequate nutrient uptake
-Fe anemia
-chronic GI (coeliac, CF, diarrhoea, vomiting, IBD)
-food allergies

Increased caloric demand
-chronic infection
-IBD
-metabolic, endocrine (hyperthyroidism, DM, inborn errors of metabolism)
-malignancy
-renal failure

Question 3

Cystic fibrosis
-what is it
-presentation
-investigations
-management

Answer 3

AR => increased viscosity of secretions
-may be identities of heel prick (high immunoreactive trypsinogen)

Colonised by
-S Aureus
-P Aeruginosa
-Burkholderia cepacia
-Aspergillus

Neonatal - meconium ileus
Recurrent chest infection
Malabsorption, steatorrhea, failure to thrive
Short stature
Delayed puberty infertility
Rectal prolapse, nasal polyp

Sweat test - abnormally high Cl

Can be false positive
-malnutrition
-adrenal insufficiency
-nephrogenic DI
-hypothyroid
-G6PD

Can be false negative
-skin edema

MDT approach
BD chest physio and postural drainage
High calorie, high fat diet
Vitamins, Creon
Lung transplant unless colonised by Bulkholderia
If homozygous for delta F508 => lumacaftor/ivacaftor

Question 3

Coeliac disease
-what is it
-association
-presentation
-investigations
-management
-complications

Answer 3

AI response to eating gluten => villous atrophy => malabsorption
-association with HLA DQ2 and 8

AI thyroiditis
Dermatitis herpetiformis
IBS
T1DM
FHx

Presents from 3, when cereals introduced to diet
-failure to thrive
-diarrhoea
-abdo distention, crampy pain, buttock wasting
-anemia, tired all the time
-sudden unexpected weight loss

Eat gluten for 6wks
-Total IgA and TTG IgA
(assess if there is a total IgA deficiency => false negative result)

Confirm/exclude - jejunal biopsy
-villous atrophy
-crypt hyperplasia
-increase in intraepithelial lymphocytes

Gluten free diet
Dietician referral

Fe, folate, B12 deficiency
Hyposplenism => pnemococcal vaccine 5yearly
Osteoporosis, osteomalacia - from poor uptake of VitD, Ca
Lactose intolerance
T cell lymphoma
Subfertility

Question 4

Cleft lip and palate
-anatomy
-associated medications
-presentation
-management

Answer 4

Cleft lip - failure of maxillary and frontonasal prominence

Cleft palate - failure of nasal septum and palatine process

AEDs
Ondansetron

Feeding difficulties
May have speech difficulties
Increased OM risk

Surgical repair
Cleft lip - 1st week - 3 months
Cleft palate - 6-12months