FOP Flashcards
What feature is mostly suggestive of “Orbial Cellulits”
Restricted Eye Movements:
suggests involvement of the orbital septum indicating deeper involvement.
Tx : IV-antibiotics
Imaging: CT / MRI Head
Refer:
-> Ophthalmology
-> ENT
S/E: Medications in Breast Milk:
1) Tetracycline
2) Isoniazid
3) Chloramphenicol
1) Yellow Teeth, avoid in Breastfeeding, or Age <12
2) Increased Seizure/Convulsion Risk
Peripheral Neuropathies in Newborn
3) Bone Marrow Toxicity in Infants
“Grey Baby Syndrome”
- abdominal distension
- cyanosis
- circulatory collapse (rare)
TRUE OR FALSE:
Examination of the Throat is essential in Children that present with Stridor ?
FALSE:
Throat examination should be avoided in children presenting with Stridor, as this can provoke or worsen upper airway obstruction.
Signs of Foreign-body inhalation ?
a) Clinical
b) CXR
ASYMMETRY
a) Asymmetrical Chest Expansion or Wheeze
b) Asymmetrical Hyper-expansion of Lung Fields
What is Kartagener Syndrome ?
Subset:
Primary Ciliary Dyskinesia
Characteristic Triad:
1) Bronchiectasis
2) Chronic Sinusitis
3) Situs Inversus
What are the Stages of Clubbing ?
1) Fluctuant Nail-bed
SIDS Advice:
1) Temperature 16-20 oC
2) Supine on their Back
3) Same room (reduces SIDS 50%)
4) Avoid Co-sleeping: Bed / Armchair
5) Cot or Moses basket free from Toys
6) Smoke-FREE
Cholera Vaccination Regime [NICE] ?
2-6yrs: 3 doses [1-6 wks apart]
6-17yrs : 2 doses [1-6 wks apart]
What type of Vaccine is the Cholera Vaccine?
Dukoral - inactivated oral vaccine
(rCTB) - recombinant cholera toxin B
4 types of Killed V.Cholerae
1st Line Invx for Hypertension in Kids?
Ambulatory BP-monitoring (ABPM)
What are the characteristic features of Noonan’s Syndrome:
“male-TURNERS / psuedo Female-TURNERS)
Dystrophic Features:
- Hypertelorism
- Downslanting palpebral fissures
- Webbed Neck
- Short Stature
Cardiac Abnormalities (90%)
- Pulmonary Stenosis
- Hypertrophic Cardiomyopathy [HCM]
Skeletal defects
Crytorchidism
Bleeding diathesis (tendencies)
Learning Difficulties
Inheritance of Noonan’s syndrome?
Autosomal-DOMINANT
How does Cystinosis present?
Cystinosis: Autosomal Recessive [AR]
Lysosomal recessive disease
- Nephropathy
- Poor Growth
- Hypophosphataemic Rickets
What is the characteristic triad for hypospadius?
1) Foreshortened Ventral opening
2) Chordee [Ventral Tilt]
3) Hooded foreskin
Neonate with Double Bubble Sign on AXR:
Duodenal Atresia:
- More prevalent in T21 [Down’s Syndrome]
- Bilious Vomiting from 1st feed (< 24hrs)
How does SMA - Type 1 present at brith?
“Werdnig-Hoffman disease” - Most Severe Spinal Muscular Atrophy
- Hypotonia
- Respiratory insufficiency
- Feeding difficulties
- Alert expressionless face,
- Weakness (Proximal > Distal)
- Deep tendon reflexes absent or depressed
- Tongue fasciculations
- Limb deformities caused by intrauterine hypotonia
Day 5 Heel Prick:
1) Glutaric acid Uris type I
2) Isovaleric acidaemia
3) MCADD
4) Phenylketonuria
5) Cystic Fibrosis
6) Congenital Hypothyroidism
What is VACTERAL?
Vertebral Anomalies
Anorectal malformation
Cardiac defects
Tracheo-oesophageal fistulae
Renal anomalies
Limb deformities
Anorectal - Urethral Fistualae with Anorectal malformation
1) De-functoning colostomy
2) Micturating cyst-urogram
3) Primary anoplasty
Grades of IVH:
Grade - 1 : Subependymal IVH (germinal matrix) - good prognosis + long term outcomes requires monitoring
Grade - 2: IVH -/- ventricular dilation
Grade - 3: IVH + Ventricular dilation -> Hydrocephalus + Contralateral impairment
Grade - 4: Parenchymal -> Hydrocephalus [requiring VP-shunting]
SMA-Type 1:
Autosomal Recessive [AR]
Deletion of SMN-gene Ch 5q
Severe form presents in the neonatal period with:
- Severe Hypotonia
- Feeding difficulties
- Respiratory distress
Ladds Procedure:
Correction of Malrotation - widening of the mesenteric base
What is Choanal Atresia?
Congenital blockage of the Nasal passages, which can occur unilaterally or bi-laterally
- Unilateral: Recurrent Nasal Drainage,
Recurrent Sinus infections
- Bilateral: Resp.Distress + Cyanosis
Congenital Myotonic Dystrophy [DM1]
Genetics: CTG - Trinucleotide repeat in non-coding region DMPK
Antenatal Presentation: Polyhydramnios, reduced Fetal movements -> Failure to Progress
Neonatal Presentation:
Respiratory distress
Profound hypotonia
Facial Diplegia
Minimal Suckle
Athrogyroposis (Talipes)
Haematology Bloods in DIC:
Depletion of Plts + VWF + Clotting Factors:
Affects both Primary + Secondary Haemostasis
(H) Bleeding Time [Thrombin Time] - common pathway
(H) PT [Prothrombin Time] - extrinsic pathway
(H) aPTT [activated partial thrombin time] - intrinsic pathway
Haematology bloods in Haemolytic Newborn Disease [HND]:
Due to Vitamin K deficiency / depletion: - affects VIT.K dependent clotting factors in common + extrinsic + intrinsic pathway: [II, VII, IX + X]
(N) Thrombin Time + Fibrinogen levels
(H) PT - [VII]
(H) aPTT - [IX]
Haematology bloods in Haemophilias ?
Intrinsic pathways are affected -> reduced 2o Haemostasis
1) A - VIII (8)
2) B - IX (9)
3) C - XIII (13)
(N) - Bleeding time
(N) - PT
(H) - aPTT
At what gestation does Surfactant get produced ?
24 - 28 wks
In what conditions can Exopthalmos Present ? [4]
BWS - Beckwith-Wiedemann Syndrome
T21
T18
Pentalogy of Cantrell
Clinical Features: [5]
Beckwith-Wiedemann Syndrome [BWS]
Rare - genetic condition
1) Exomphalos
2) Macroglosia
3) Visceromegaly
4) Pancreatic hyperplasia - > (H) Insulin production ->
recurrent hypoglycaemia
5) Genitourinary abnormalities
What disease is the biggest risk factor for fungal pneumonia?
Chronic granulomatous disease;
X-linked recessive (CYBB gene)
Inability of phagocytes to kill and engulf organisms due to defective enzymes.
What is the most likely Dx?
Teenage boy presents with a Hx of ‘blocked nose, pink/blue mass, unilateral nostril.
Hx of Trauma —> profuse blood loss
Juvenile Angiofibroma
What are the characteristics features of
Tuberous Sclerosis Complex?
[AD] multisystem disease - Hamartomas
- Brain —> Seizures [80%]
Infantile Spasms [50%] - Heart
- Lungs
- Skin
What is Precocious Puberty?
Early pubertal development:
Girls < 8yrs (commonly idiopathic)
Boys < 9yrs (commonly pathological)
What is the average age of Breast development “Thelarche” in girls?
11 years
(Absence by 13yrs is considered delayed)
What are the 2 main causes of Acquired Hypothyroidism?
- Autoimmune (Hashimoto’s) Thyroiditis
- Post-Total-Body-Irradiation (TBI)
- e.g. post bone-marrow biopsy
Klinefelter Syndrome, disease associations?
Pulmonary Disease
Varicose Veins
Breast Cancer
Leukaemias
Mediastinal germ-cell tumours
What is the Prevalence of Delayed Puberty ?
More common in boys, usually idiopathic
What are the affected organs in multiple endocrine neoplasia [MEN1]
Pancreatic Insulinoma
Pituitary Tumour
Parathyroid Hyperplasia —> Parathyroidism
- (H) Ca2+ increased bone mobilisation
- (L) PO4- increased renal excretion
FHx: Maternal Prolactinoma
What structure is most likely to be affected by suprasellar extension of a Pituitary Adenoma?
Optic Nerve (Optic Chiasm) —> Bitemporal Hemianopia
What is McCune-Albright Syndrome?
Mutations in GNAS gene Ch20 13.3
Fibrous Dysplasia
Cafe Au Lait macules
Autonomic endocrine hyper-function:
- Gonadotropin-independent precocious
puberty
- Hyperthyroidism
- Hypercorticolism
- Acromegaly
What is the most common cause of Cardiac defects in Children?
VSD
- Alchohol increases risk of septal defects *
CXR sign “egg on string”, with Cyanosis with reduced pre+post ductal sats?
TGA
Able to roll, babbling, reaching for objects, sit with support?
6 months
Able to roll, not reach for objects
4 months
Sit-unsupported
9 months
2 word sentences
Use a fork
Stack x6 blocks
2 yrs-old
3 word sentences
Know own name
‘Tri’-cycle
3 yrs
Balance on 1 foot
Brush his teeth independently
Write his name
No nappies (dry day & night)
5 yrs-old
Use scissors & buttons
Not dry @ night
Not be able to spell name
4 years
Lyme disease treatment
Amoxicillin
< 3months old Bacterial meningitis management?
IV-Cefotaxime
(Ceftriaxone can exacerbate hypebilirubinaemia in <3 months —> Kernicterus)
Sepsis management?
Cefotaxime/Ceftriaxone(hyperbilirubinaemia risk)
Amoxicillin / Ampicillin < 28 days
Gentamicin [Severe]
± Aciclovir
What are the features of congenital Parvovirus (B19) ?
Non-immune Hydrops Fetalis
Miscarriage (9-20wks)
Severe Anaemia
Cardiac Failure (Viral Myocarditis)
Non-blanching rash
Extramedullary Haematopoesis
Signs of Congenital CMV? [5]
IUGR
Microcephaly
Petichial/purpuric rash
Hepatosplenomegaly
Peri-ventricular calcification
Cranial - ventriculomegaly
Chorioretinitis / Cataracts
Sensorineural Deafness
Signs of Congenital HSV [3]?
Microcephaly
Cutaneous Scars
Vesicles
Signs of Congenital Rubella? [6]
Cataracts
Cardiac Defects:
- PDA
- Pulmonary Artery Stenosis
B/L SNHL
Hepatosplenomegaly
Microcephaly
Petechiae
Signs of Congenital Syphilis? (8)
Coryzal
Hepatosplenomegaly
Maculopapular rash - palms + soles
Hydrops
Vesicles
Condylomata Lata
Bone Abnormalities
Pseudoparalysis
Signs of Congenital Toxoplasmosis? [4]
IUGR
Hydrocephalus
Intercerebral calcification
Chorioretinitis
Signs of Congenital Zika Virus? [5]
- Microcephaly
- Intracranial calcification
- Ocular abnormalities
- Hypertonia
- Joint Contractures [Arthrogyposis]
Sign’s Cow’s milk protein allergy ?
Non-IgE mediated: Symptoms can occur 2-72 hours after ingestion.
IgE-mediated: immediately - 2hrs following ingestion.
Symptoms:
- Erythematous Rash
- Vomiting
- Diarrhoea ± Constipation
- Blood in Stool
- Mucus in Stool
- Faltering growth
Clinical Presentation of Galactosaemia?
In-born error of Carbohydrate-metabolism:
GALT - gene mutation
1st few weeks of Life: E.Coli Sepsis
- Vomiting
- Jaundice (conjugated)
- Lethargy
- Hypotonia
- Coagulopathy
- Ascites
Beutler Test: galactose-1-phosphate uridyl transferase.
Clinical presentation of MCADD?
Disorder mitochondrial fatty acid B-oxidation, due to Medium Chain Acyl Co-A dehydrogenase deficiency. [AR]
Hypoketotic
Hypoglycaemia
Ammonia - elevated
Hypotonia
Vomiting
Jitteriness
Lethargy
Siezures - neuroglycopenia —> Brain Atrophy.
Hepatomegaly Metabolic Crisis
Treatment of congenital CMV
GANCICLOVIR FOR 6 months
High risk neutropenia
Small Pale Nodules Septic Neonate?
Listeria monocytogenes
Chickenpox with Neurological symptoms
Ataxia + Nystagmus + Headache altered mental state?
Acute Cerebelitis
Child < 3months
Fever > 38?
Perform Full Septic Screen
BMI for Obese?
> 98th Centile
Initial management steps in Nocturnal Enuresis ?
- Restricted Fluid + Reward System
- Alarm system (discontinue dry >2weeks)
- Desmopressin (up to 3months)
What medication can be used in children with daytime bedwetting?
Oxybutynin
What is the inheritance of G6PD?
X-linked recessive:
Presents with: Prolonged Jaundice or Juvenile -onset
Jaundice
- Pruritis
- Dark Urine
Anaemia
- Pale Skin
- Lethargy
What are the clinical features of Kawasaki?
5 days Fever
Cervicle Lymphadenopathy > 1.5cm
Maculopapular Morbilliform Rash
Desquamation fingers + toes (> 2wk post fever)
Conjunctivitis B/L non-purulent
Strawberry Tongue + Red Lips
Describe the Clinical features of Measles?
High Fever
Morbilliform rash - starts behind the ears
Koplik Spots
Conjunctivitis
PHE - notification < 24hrs
What is Mobius Syndrome?
Facial Nerve Palsy:
B/L Fixed Convergent Squint
No Facial Expressions
‘Drooling’
Cleft Palate
Underdevelopment pectoral muscles
What is Brown Syndrome?
Vertical Strabismus: Limited elevation of the in adduction.
Restriction of Superior Oblique muscle-tendon-trochlea complex. [IV]
Duane Syndrome?
Congenital Strabismus - VI Nerve palsy
Limited:
- adduction
-abduction - retracted eyeball on adduction
Eczema Creams?
Very Mild - 0.5% Hydrocortisone
Mild - 1% Hydrocortisone
Moderate - Clobetasone (Eumovate)
Severe - Betametasone (Betnovate)
Very Severe - Clobetasol (Dermovate) Specialist
Combination of Carbamazepine of Clarithromycin leads to?
Increased concentration of Carbamazepine
Clarithromycin - CYP450 inducer
Cushing’s Physiological Triad ?
Bradycardia
HTN
Respiratory Suppression
[Indicates Raised ICP + impending brain herniation]
Treatment: Immediate Anaesthetic support to secure airway
What is the distribution of Epidermolysis Bullosa ?
Skin + Mucosal Blistering: Friction points
- Hands
- Feet’s
- Knees
What is the distribution of Benign Familial Pemphigus?
Symmetrical crusted lesions in flexor surfaces - exacerbated by friction.
Management of Hydrocele
Spontaneous resolution 18-24 months
- Surgery is considered > 2yrs
What is Leber’s hereditary optic neuropathy?
Mitochondrial hereditary disorder
- Dysfunction of Electron Transport Chain —> Degraded Retinal Cells
Paediatric Anti-malarial’s ?
Kids > 5kg
Atovaquone
Proguanil
