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HJ S2RR > Paeds > Flashcards

Paeds Flashcards

1
Q

Nontender abdominal mass associated with high vanillylmandelic acid (VMA) & homovanillic acid (HVA)

A

Neuroblastoma

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2
Q

Most common type of trachoesophageal fistula (TEF)

A

Esophageal atresia with distal TEF (85%)

Unable to pass NG tube

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3
Q

Not contraindication to vaccination

A

Mild illness and/or low grade fever
Current antibiotic therapy
Prematurity

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4
Q

Tests to rule out abusive head trauma

A

Opthalmologic exam, CT & MRI

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5
Q

A neonate has meconium ileus

A

Cystic fibrosis

Hirschprung disease is associated with failure to pass meconium for 48hrs

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6
Q

Bilious emesis within hours after the first breast feeding

A

Duodenal atresia

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7
Q

A 2 month old baby presents with nonbilious projectile emesis. Diagnosis? Management?

A

Pyloric stenosis

Hydrate and correct metabolic abnormalities
Pyloromyotomy to correct pyloric stenosis

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8
Q

Most common primary immunodeficiency

A

Selective IgA deficiency

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9
Q

An infant has high fever and onset of rash as fever breaks. What is he at risk for?

A

Febrile seizures (due to roseola infantum)

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10
Q

A boy has chronic respiratory infections. Nitroblue tetrazolium test negative
What is the immunodeficiency?

A

Chronic granulomatous disease

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11
Q

A child has eczema, thrombocytopenia and high levels of IgA. What is the immunodeficiency?

A

Wiskott-Aldrich syndrome

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12
Q

A 4 month old boy has life-threatening pseudomonas infection. What is the immunodeficiency?

A

Bruton’s X-linked agammaglobulinaemia

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13
Q

What is the acute phase treatment for Kawasaki disease?

A

High dose ASA for inflammation and fever

IVIG to prevent coronary aneurysms

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14
Q

What is the treatment for mild and severe unconjugated hyperbilirubinaemia?

A 
Phototherapy (mild)
Exchange transfusion (severe)

NB: do NOT use phototherapy for conjugated hyperbilirubinaemia!

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15
Q

Sudden onset mental status changes, emesis &a liver dysfunction after ASA intake

A

Reye syndrome

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16
Q

A child has loss of red light reflex (white pupil)
What is the diagnosis?
What cancer is he at increased risk of?

A

Suspect retinoblastoma

Osteosarcoma

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17
Q

6month vaccinations for healthy child

A

Hep B, DTaP, Hib, IPV, PCV, rotavirus

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18
Q

Tanner stage 3 in a 6 year old girl

A

Precocious puberty

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19
Q

Infection of small airways with epidemics in winter & spring

A

RSV bronchiolitis

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20
Q

Cause of neonatal RDS

A

Surfactant deficiency

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21
Q

Red “currant jelly” stools, colicky abdominal pain, bilious vomiting & sausage shaped mass in RUQ

A

Intussusception

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22
Q

A congenital heart disease that cause secondary hypertension. What would you find on physical examination?

A

CoA

Reduced femoral pulses

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23
Q

What is the first line treatment for otitis media?

A

Amoxicillin

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24
Q

What is the most common pathogen causing croup?

A

Parainfluenza virus type 1

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25
Q

A homeless child is small for his age and has peeling skin and a swollen belly

A

Kwashiorkor (protein malnutrition)

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26
Q

Defect in X-linked syndrome with mental retardation, gout, self-mutilation & choreoathetosis

A

Lesch-Nyhan syndrome (purine salvage problem with HGPRTase deficiency)

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27
Q

A newborn girl has a continuous “machinery murmur”. What drug would you give?

A

Indomethacin - given to close the PDA

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28
Q

A newborn girl with a posterior neck mass and swelling of the hands

A

Turner syndrome

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29
Q

A young child presents with proximal muscle weakness, waddling gait & pronounced calf muscles

A

Duchenne muscular dystrophy

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30
Q

A first-born female who was born in breech position is found to have an asymmetric skin folds on newborn exam.
What is the diagnosis?
What is the treatment?

A

Developmental dysplasia of the hip

If severe, consider a Pavlik harness to maintain abduction

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31
Q

An 11-year old obese African American boy presents with sudden onset of limp
Diagnosis?
Work up?

A

Slipped capital femoral epiphysis

AP & frog-leg lateral radiographs

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32
Q

An active 13-year old boy has anterior knee pain

A

Osgood-Schlatter disease

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33
Q

Mimics of bruising

A

Mongolian spots (non -pathological)

Coining/cupping (alternative treatments in certain cultures)

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34
Q

Pathological bruises on head and torso or patterning

A

Hit with hand or belt

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35
Q

Types of burns presentations:

A

Contact burns — cigarette /curling iron

Immersion burns: —hot water, on buttocks or stocking glove distribution

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36
Q

Mimics of burns injury

A

Scalded skin syndrome OR Severe contact dermatitis

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37
Q

Epiphysis/metaphyseal bucket fractures

A

Spiral humerus/femur fracture

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38
Q

Posterior rib fracture indicates?

A

Indicated squeezing

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39
Q

Mimic of fractures

A

Osteogenesis imperfecta

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40
Q

Lethargy, feeding difficulty, apnoea, seizures, retinal haemorrhage, subdural/epidural haematoma

A

Abusive head trauma

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41
Q

Mimic for abusive head trauma

A

Accidental head trauma

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42
Q

Work up for NAI

A

X-ray skeletal survey and bone scan

If suspect sexual: gonorrhoea, syphilis, chlamydia, HIV sperm testing within 72hrs of assault

Ophthalmology & non contrast CT for head trauma

MRI : white matter changes associated with violent shaking and extent of intra & extracranial bleeds

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43
Q

Management for NAI

A

Document injuries

Notify Child Protective Services for possible removal of child from home

Hospitalise if necessary to stabilise or protect child

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44
Q

True or false: neisseria gonorrhoea isolated on vaginal culture is definitive evidence of sexual abuse.

A

True

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45
Q

True or false: chlamydia trachomatis isolated on vaginal culture is definitive evidence of sexual abuse.

A

False

It can also be acquired from mother during delivery and can persist for up to 3 years

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46
Q

Intrauterine risk factors for congenital heart disease

A

Maternal drug use (EtOH, lithium, thalidomide, phenytoin)

Maternal infection (rubella)

Maternal illness (DM, PKU)

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47
Q

5 cyanotic heart defects (R—>L shunts)

A 
Truncus arteriosus
TGA
Tricuspid atresia
TOF
TAPVM

Only TGA presents with severe cyanosis within the first few hours of life

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48
Q

A mother presents with her previously healthy 3 month old infant boy, stating that he has been Increasingly difficult to rouse for the past four hours and has lost interest in feeding; she left the baby alone with her boyfriend while she left the home to run errands. While en route to the hospital, the baby stop breathing. Physical examination is notable for occipital bruising. What is the most likely cause of this child apnoea?

A

Abusive head trauma

This is most common in 3 to 4 month old infants and presents early with non-specific symptoms (lethargy, irritability, poor feeding, vomiting) and later with seizures or apnoea.

There is generally no reported history of her trauma. Subdural haematoma and oedema account for most neurological findings. In babies with abusive head trauma, there is a 50 - 70% chance of prior abuse.

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49
Q

3 non cyanotic heart defects

A

VSD, ASD, PDA

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50
Q

Most common type and subtype of congenital heart disease

A

VSD; membranous VSD

Most resolve without intervention

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51
Q

Murmur found in ASD

A

Fixed, widely split S2

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52
Q

True or false: ASD is an VSD is really present at birth with findings other than harsh systolic murmur

A

True

ASD is VSDs and PDAs are acyanotic conditions and therefore don’t present with cyanosis unless Eisenmenger syndrome has developed

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53
Q

Left to right shunt leads to pulmonary hypertension and shunt reversal

A

Eisenmenger syndrome

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54
Q

Condition associated with ASD and endocardial cushion defects

A

Down syndrome

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55
Q

Condition associated with PDA

A

Congenital rubella

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56
Q

Condition associated with coarctation of the aorta

A

Turner syndrome (many also have bicuspid aortic valve)

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57
Q

Condition associated with coronary artery aneurysm

A

Kawasaki disease

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58
Q

Condition associated with congenital heart block

A

Neonatal lupus

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59
Q

Condition associated with Conotruncal abnormalities

A

TOF(overriding aorta)
Truncus arteriosus
DiGeorge syndrome (TOF)
Velocardiofacial syndrome

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60
Q

Apical displacement of the tricuspid valve leaving to atrialisation of the right ventricle

A

Ebstein abnormality

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61
Q

Condition associated with Ebstein abnormality

A

Maternal lithium use during pregnancy

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62
Q

Condition associated with heart failure

A

Neonatal thyrotoxicosis

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63
Q

Condition associated with asymmetric septal hypertrophy and TGA

A

Maternal diabetes

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64
Q

Definition of septal defect

A

A condition in which an opening in the atrial or ventricular septum and allows blood to flow between the atria and ventricles, leading to left to right shunting.

VSD is the most common type of congenital heart disease

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65
Q

True or false: small septal defect require treatment

A

False

Most small ASDs/VSDs close spontaneously and do not require treatment

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66
Q

True or false: antibiotic prophylaxis is recommended prior to procedures

A

False

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67
Q

Indications for surgical repair in septal defect

A

Symptomatic patients who fail medical management
Children < 1yo With signs of pulmonary hypertension
Older children with large defects that have not reduced in size over time

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68
Q

Complications of septal defect that are prevented by early correction

A

Arrhythmias, right ventricular dysfunction, Eisenmenger syndrome

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69
Q

Treatment of existing CHF associated with septal defect

A

Diuretics (initial treatment)
Positive inotropes
ACE inhibitors

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70
Q

Symptoms associated with ASD

A

Holt- Oram syndrome (absent radii, ASD, first degree heart block)

Fetal alcohol syndrome
Trisomy 21

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71
Q

Syndrome is associated with VSD

A

Apart syndrome (cranial deformities, fusion of the fingers and toes)

Down syndrome
Fetal alcohol syndrome
TORCH infections
Cri du chat syndrome
Trisomies 13 and 18
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72
Q

Presentation of ASD

A

Small defects: asymptomatic

Large defects: easy fatigability; frequent respiratory infection; FTT

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73
Q

Presentation of VSD

A

Small defects: asymptomatic

Large defects: recurrent respiratory infection; dyspnoea; FTT; CHF

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74
Q

Auscultation findings in ASD

A

Wide, Fixed split S2

Systolic injection murmur at the left USB (increased flow across pulmonary valve)

Major diastolic rumble at the left LSB

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75
Q

Auscultation findings in VSD

A

Harsh holosystolic murmur at LLSB (louder for small defects)

Narrow S2 with loud P2 (large defect)

Mid diastolic apical rumble (due to increased flow across mitral valve)

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76
Q

Chest x-ray findings in septal defect

A

Cardiomegaly

Increased pulmonary vascular markings

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77
Q

ECG findings in ASD

A

RVH

Right atrial enlargement

PR prolongation is common

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78
Q

ECG findings in VSD

A

LVH (RVH may also be found with large defects)

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79
Q

Echo findings in septal defect

A

Defect and blood flow across the atrial or ventricular septum

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80
Q

Definition of PDA

A

Failure of the ductus arteriosus to close in the first few days of life, leading to and acyanotic left to right shunt from the aorta to the pulmonary artery.

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81
Q

4 things to look for in infants presenting in a shop like state within the first few weeks of life

A
  1. Sepsis
  2. Inborn errors of metabolism
  3. Ductal dependent congenital heart disease usually left-sided lesions
  4. Congenital adrenal hyperplasia
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82
Q

Presentation of PDA

A

Typically asymptomatic

Large defects: FTT, recurrent LRTI, clubbing and CHF

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83
Q

Examination findings in PDA

A

Continuous machinery murmur at second left ICS at the sternal border

Loud S2

Wide pulse pressure and bounding peripheral pulses

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84
Q

Diagnostics test of choice for PDA

A

Colour flow Doppler echocardiogram

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85
Q

Treatment for PDA

A

Indomethacin (NSAID) for closure unless PDA is needed for survival

Surgical closure is required if indomethacin fails or if the child is >6-8 mo

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86
Q

Conditions where PDA is needed for survival

A

TGA, TOF, hypoplastic left heart

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87
Q

Contraindication for indomethacin use

A

Intraventricular haemorrhage

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88
Q

Definition and aetiology of CoA

A

Construction of a portion of the aorta, Leading to increased flow proximal to and decreased flow distal to the coarctation

Occurs just distal to the left subclavian artery in 90% of patients

Associations: turner syndrome, berry aneurysms, male gender

More than 2/3 of patients have a BAV

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89
Q

Presentation of CoA

A

Upper extremity hypertension, Weak femoral pulses

Low extremity claudication, syncopes, epistaxis, headache

Radio femoral delay, short to systolic murmur in the left axilla, forceful apical impulse

Infancy: poor feeding, lethargy, tachypnoea, eventual shock like state when the PDA closes

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90
Q

A 2 yo boy is brought to the paediatrician because of shortness of breath and easy fatiguability during play.
O/E tachypnoea and a soft holosystolic murmur of the left lower sternal border.
What is the most likely cause of the boy’s symptoms?

A

Large untreated VSD leading to Eisenmenger syndrome

There is less turbulence across a large defect compared with a small one leading to a softer murmur

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91
Q

Diagnostic workup for CoA

A

Colour flow Doppler echocardiography

CXR younger: cardiomegaly and pulmonary congestion

CXR older: 3 sign & rib notching

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92
Q

What is 3 sign on CXR?

A

In CoA

Pre-and post dilation of the co-optation segment with aortic wall indentation

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93
Q

What is rib notching on CXR?

A

In CoA

Collateral circulation through the intercostal arteries

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94
Q

Treatment for CoA

A

PGE1 to keep ductus arteriosus open (Severe infant)

Surgical correction or balloon angioplasty is controversial

Monitor for restenosis, aneurysm development, aortic dissection

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95
Q

DiGeorge syndrome

A

CATCH 22

Cardiac abnormalities (TGA)
Abnormal facies (retrognathia/micrognathia, long face, short philtrum, low set ears)
Thymic aplasia
Cleft palate
Hypercalcaemia (2/2 parathyroid hypoplasia/a Genesis)
22q11 deletion

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96
Q

Most common cyanotic congenital heart lesion in the newborn

A

TGA

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97
Q

Definition of transposition of the great arteries

A

The aorta is connected to the right ventricle and the pulmonary artery to the left ventricle, creating parallel pulmonary and systemic circulations

Without a septal defect and the PDA it is incompatible with life

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98
Q

True or false: both septal defect and PDA are needed to sustain life in TGA

A

True

PDA alone is usually not sufficient to allow adequate mixing of blood

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99
Q

Risk factors for TGA

A

Maternal diabetes

DiGeorge syndrome

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100
Q

Presentation and examination of TGA

A

Cyanosis within first few hours of life

O/E Tachypnoea, progressive hypoxaemia, extreme sinuses

If the VSD is present a systolic murmur may be heard at the left sternal border

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101
Q

Egg shaped silhouette on chest x-ray

A

TGA

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102
Q

Diagnostic workup of TGA

A

Echo

CXR: narrow heart base, Absence of main pulmonary artery segment, egg shape silhouette, Increased pulmonary vascular markings

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103
Q

Treatment for TGA

A

IV PGE to maintain or open the PDA

Arterial or atrial switch is definitive

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104
Q

Indications for balloon atrial septostomy in TGA

A

Unfeasible surgery in the first few days of life

PDA cannot be maintained with prostaglandin

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105
Q

Purpose of balloon atrial septostomy

A

To create or enlarge an ASD in TGA

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106
Q

Most common cyanotic congenital heart disease in children

A

TOF

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107
Q

4 components of TOF

A

RVOTO, Overriding aorta, RVH, VSD

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108
Q

Tet spells

A

TOF

Children off and Scott for relief during hypoxaemic episodes which increase systemic vascular resistance, thus increasing bloodflow to the pulmonary vasculature and improved oxygenation

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109
Q

Presentation of TOF

A

Tet spells, FTT, mental status changes

O/E: Systolic injection murmur at the left upper sternal border (RVOTO); right ventricular heave; single S2

110
Q

Diagnosis of TOF

A

Echocardiography and catheterisation

111
Q

Boot shaped heart in CXR

A

TOF

112
Q

Diagnostic features of TOF

A

CXR: boot shaped heart & DECREASED pulmonary vascular markings

ECG: right axis deviation & RVH

N.B: Remember that a VSD resulting in increased pulmonary vascular markings

113
Q

Management of TOF

A

Severe RVOTO or atresia—> immediate PGE1 & urgent surgical consultation

Tet spells —> 02, propranolol, phenylephrine, knee chest position, fluids and morphine

Surgery: balloon atrial septostomy (temporary palliation); Blalock-Taussig shunt (definitive)

114
Q

No babbling and all gesturing by 12 months, no two word phrases by 24 months, impaired social interaction, restricted interest, and insistent on routine

A

Autism

115
Q

Left hand or chest when prone

Tracks past midline

Alerts to sound; coos

Recognises parent; exhibit social smile

A

2 months

116
Q

Rolls front to back, back to front (four months)

Grasps rattle

Laughs and squeals; orients to voice; begins to make consonant sounds

Enjoys looking around; laughs

A

4 to 5 months

117
Q

Sits unassisted

Transfers objects; demonstrates raking grasp

Babbles

Demonstrate stranger anxiety

A

6 months

118
Q

Crawls; cruises; pulls to stand

Uses three finger (immature) pincer grasp

Says mamma daddy (non-specific); says first word at 11 months

Waves bye-bye; please patt a cake

A

9 to 10 months

119
Q

Walks alone; Throws objects

Uses 2 finger (mature) pincer grasp

Uses one to 3 words

Imitate actions; exhibit separation anxiety; Follows one step command

A

12 months

120
Q

Walks up and down stairs; jumps

Build a tower of six cubes

Uses two word phrases

Follows to step commands; remove clothes

A

2 years

121
Q

Rides tricycle; climb stairs with alternating feet

Copies circle; Uses utensils

Uses three word sentences

Brush his teeth with help; washes or dries hands

A

3 years

122
Q

Hops

Copies a cross (Square at 4.5 years)

Knows colours and some numbers

Exhibit cooperative play; plays board games

A

4 years

123
Q

Skips; walks backward for long distances

Copies a triangle; ties shoelaces; knows left and right; prints letters

Uses five word sentences

Exhibits domestic role-playing; plays dress up

A

5 years

124
Q

True or false going on For premature infants lesson two years of age, chronological age must be adjusted for gestational age

A

True

For example, an infant born at seven months gestation. (2 months early) would be expected to perform at 4 month level at the chronological age of six months

125
Q

Infants with FTT will fall off the head circumference, weight and height curves in which order?

A

Weight, height, head circumference

126
Q

What does an increased head circumference indicate?

A

Hydrocephalus or tumour

Measured routinely in the first two years

127
Q

What does a reduced head circumference indicate?

A

Microcephaly (E.g. TORCH infections)

Measured routinely in the first two years

128
Q

True or false: it is abnormal for infants to lose 5% of their body weight in the first few days

A

False

Infants may lose 5 to 10% of body weight over the first few days but should return to their body weight by 14 days

BW doubles by 4 to 5 months

Triples by the 1 year

Quadruples by 2 years

129
Q

Definition of FTT

A

Persistent weightLess than the 5th percentile for age or falling off the growth curve (i.e., crossing two major percentile lines on a growth chart)

130
Q

Causes of organic FTT

A

Due to an underlying medical condition

Cystic fibrosis, congenital heart disease, coeliac’ sprue, pyloric stenosis, chronic infection(E.g. HIV), GORD

131
Q

Causes of non-organic FTT

A

Primarily due to psychosocial factors

Poverty, inaccurate mixing of formula (too much water mixed in), maternal depression, neglect or abuse

132
Q

Management of neglect or severe malnourishment

A

Children should be hospitalised

Calorie counts & Supplemental nutrition if breastfeeding is inadequate

133
Q

Order of Tanner stages of sexual development in girls

A

Thelarche —> Pubarche —> growth spurt —> menarche

134
Q

Order of Tanner stages for sexual development in boys

A

Gonadarche —> Pubarche —> adrenarche —> Growth spurt

135
Q

Age of precocious puberty in girls

A

< 8 years

136
Q

Age of precocious puberty in boys

A

< 9 years

137
Q

Age of delayed puberty in girls

A

> 13 years

138
Q

Age of delayed puberty in boys

A

> 14 years

139
Q

Average age of puberty in girls

A

10.5 years

140
Q

Average age of menarche in US girls

A

12.5 years

141
Q

Average age of puberty in boys

A

11.5 years

142
Q

Any sign of secondary sexual maturation in girls < 8 years or boys < 9 years of age.

Orphan idiopathic; maybe central or peripheral

A

Precocious puberty

143
Q

No testicular enlargement in boys by age 14, or no breast development or pubic hair in girls by age 13

A

Delayed puberty

144
Q

A normal variant, and the most common cause of delayed puberty

The growth curve legs behind others of the same age but remains consistent

There is often a positive family history, and children ultimately achieve target height potential

A

Constitutional growth delay

145
Q

Causes of pathological puberty delay

A

Systemic disease (e.g. IBD)

Malnutrition (e.g. anorexia nervosa)

Gonadal dysgenesis (e.g. Klinefelter syndrome, turner syndrome)

Endocrine abnormalities (e.g. hyperpituitarism, hypothyroidism, Kallmann syndrome, androgen insensitivity syndrome, Prader Willi syndrome)

146
Q

Trisomy 21 As a result of meiotic nondisjunction (95%), Robertsonian translocation(4%), or mosaicism (1%)

A

Down syndrome

147
Q

Trisomy 18

A

Edwards syndrome

148
Q

Trisomy 13

A

Patau Syndrome

149
Q

The most common chromosomal disorder and cause of intellectual disability

A

Down syndrome

150
Q

Trisomy associated with advanced maternal age

A

Down syndrome

151
Q

Intellectual disabilities, flat facial profile, up slanted eyes with epicanthal folds, single palmar crease, general hypotonia, and extra neck folds (nuchal folds are sometimes seen on prenatal ultrasound)

A

Down syndrome

152
Q

Associated with atlantoaxial instability, duodenal atresia, Hirschprungs disease & congenital heart disease

A

Down syndrome

153
Q

Most common cardiac malformations in Down’s syndrome

A

AV canal (60%); ASDs, VSDs, and PDAs(20%), complex congenital heart disease

154
Q

Trisomy associated with an increased risk of ALL, Hypothyroidism, and early onset Alzheimer’s disease

A

Down syndrome

155
Q

Trisomy presenting with severe intellectual disabilities, rocker bottom feet, low set ears, micrognathia, clenched hands (Overlapping fourth and fifth digits), prominent occiput

Death usually occurs within one year of birth

A

Edwards syndrome

156
Q

Associations of Edward syndrome

A

Congenital heart disease; horseshoe kidneys

157
Q

Trisomy presenting with severe intellectual disabilities, microphthalmia, microcephaly, Cleft lip and palate, holoprosencephaly, punched out scalp lesions, Polydactyly, omphalocele

Death usually occurs within one year of birth

A

Patau syndrome

158
Q

47, XXY in males

Associated with advanced maternal age

A

Klinefelter syndrome

Characterised by the presence of an activated X chromosome (Barr body)

159
Q

One of the most common causes of hypogonadism in males

A

Klinefelter syndrome

160
Q

Presents with testicular atrophy, Eunuchoid body shape, tall stature, long extremities, gynaecomastia, female hair distribution

A

Klinefelter syndrome

161
Q

Treatment of Klinefelter syndrome

A

Testosterone

Prevents gynaecomastia; improves secondary sexual characteristics

162
Q

45, XO in females

Not associated with advanced maternal age

A

Turner syndrome

Missing 1 X chromosome; no Barr body

163
Q

Most common cause of primary amenorrhoea

A

Turner syndrome

Due to ovarian dysgenesis (treat with oestrogen)

164
Q

Short stature, shield chest, widely spaced nipples, webbed neck, CoA (weak femoral pulses), And or BAV

A

Turner syndrome

Represented lymphoedema of the hands and feet in the neonatal period

May have horseshoe kidney

165
Q

47, XYY

Observed with increased frequency among inmates of penal institutions

A

Double Y males

166
Q

Patients often look normal; some patients are very tall with severe acne (seen in 1 to 2% of XYY male patients)

A

Double Y males

167
Q

Mode of inheritance of PKU

A

Autosomal recessive

PKU is screened for at birth

168
Q

Aetiology of PKU

A

Decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor

Tyrosine becomes essential, and phenylalanine accumulates and it is subsequently converted it to its ketone metabolites

169
Q

Normal at birth

First few months of life presents with intellectual disabilities, fair hair and skin, Eczema, blond hair, blue eyes, Musty odour in urine

A

PKU

Associated with high risk of heart disease

170
Q

Management of pique you

A

Reduce dietary phenylalanine (Artificial sweeteners) & Increased dietary tyrosine

Mother with PKU who wants to become pregnant must restrict her diet as above before conception

171
Q

Mode of inheritance of fragile X syndrome

A

X linked dominant

172
Q

Aetiology of fragile X syndrome

A

Caused by defect affecting the methylation and expression of the FMR1 gene; A triplet repeat disorder that may show genetic anticipation

173
Q

Second most common genetic cause of intellectual disabilities

A

Fragile X syndrome

174
Q

Large jaw, Large testes and large ears with autistic behaviours

A

Fragile X syndrome

175
Q

Mode of inheritance of Fabry disease

A

X linked recessive

176
Q

Aetiology of Fabry disease

A

Caused by a deficiency of alpha galactosidase A that leads to accumulation of ceramide trihexoside in the heart, brain and kidneys

177
Q

Severe neuropathic limb pain (or joint swelling); angiokeratomas and telangiectasias

Renal failure and an increased risk of stroke and MI (Thromboembolic events)

A

Fabry disease

178
Q

The first sign of Fabry disease

A

Severe neuropathic limb pain

179
Q

Mode of inheritance of Krabbe disease

A

Autosomal recessive

180
Q

Aetiology of a Krabbe disease

A

Absence of galactosylceramide and galactoside (due to galactosylceramidase deficiency), leading to the accumulation of galactocerebroside in the brain

181
Q

Progressive CNS degeneration, optic atrophy, Spasticity, and death within the first three years of life

A

Krabbe disease

182
Q

Mode of inheritance of Gaucher’s disease

A

Autosomal recessive

183
Q

Aetiology of Gaucher disease

A

Deficiency of glucocerebrosidase (also known as acid beta glucosidase) that leads to the accumulation of glucocerebroside in the brain, liver, spleen, and bone marrow

184
Q

Crinkled paper appearance with enlarged cytoplasm

A

Gaucher cells

185
Q

Anaemia and thrombocytopenia

Infantile form: early, rapid neurological decline

Adult (more common): Compatible with a normal lifespan and does not affect the brain

A

Gaucher’s disease

186
Q

Mode of inheritance of Niemann- Pick disease

A

Autosomal recessive

187
Q

Aetiology of Niemann Pick disease

A

No man PICKS his nose with his sphinger!

Deficiency of sphingomyelinase that leads to the buildup of sphingomyelin cholesterol in reticuloendothelial and parenchymal cells and tissues

188
Q

Cherry red spot and hepatosplenomegaly

Patients with type A die by age 3

A

Niemann Pick disease

189
Q

Mode of inheritance of Tay-Sachs disease

A

Autosomal recessive

190
Q

Aetiology of Tay-Sachs disease

A

Absence of hexosaminidase leading to GM2 ganglioside accumulation

Tay-SaX lacks heXosaminidase!

191
Q

Infants may appear normal until 3 to 6 months of age, when weakness begins and development slows and regresses. An exaggerated startle response may be seen.

Cherry red spot but NO hepato-splenomegaly

A

Tay-Sachs disease

192
Q

Carrier rate 1 in 30 Jews of European descent(One in 300for others)

Death occurs by age 3

A

Tay-Sachs disease

193
Q

Mode of inheritance of metachromatic leucodystrophy

A

Autosomal recessive

194
Q

Aetiology of metachromatic leucodystrophy

A

Deficiency of arylsulfatase A lead to an accumulation of sulphatide in the brain, kidney, liver, and peripheral nerves

195
Q

Demyelination leading to progressive ataxia and dementia

A

Metachromatic leukodystrophy

196
Q

Mode of inheritance of Hurler syndrome

A

Autosomal recessive

197
Q

Corneal clouding, intellectual disabilities, and gargoylism

A

Hurler syndrome (a-L-iduronidase deficiency)

198
Q

Mode of inheritance of Hunter syndrome

A

X linked recessive

199
Q

Aetiology of Hunter syndrome

A

Iduronate sulphatase deficiency

200
Q

Mild form of Hurler Syndrome with no corneal clouding and mild intellectual disabilities

A

Hunter syndrome

Hunters need to see (no corneal cloud in) to aim for the X!

201
Q

True or false: almost all cases of meconium ileus are due to cystic fibrosis

A

True

202
Q

Mode of inheritance of cystic fibrosis

A

Autosomal recessive

203
Q

Aetiology of cystic fibrosis

A

Mutations in the CFTR gene (chloride channel) on Chr7 and characterised by widespread exocrine gland dysfunction

204
Q

Most common severe genetic disease in the United States and most frequently found in whites

A

Cystic fibrosis

205
Q

Neonates presenting with obstruction of the distal ileum due to abnormally thick meconium

A

Cystic fibrosis

206
Q

Presentation of cystic fibrosis in patients under one years

A

Cough, wheezing, recurrent respiratory infections

May also have steatorrhea and or FTT

207
Q

Presentation of cystic fibrosis in patients older than one year

A

FTT (due to pancreatic insufficiency) OR Chronic sinopulmonary disease or sputum production

208
Q

Typical recurrent pulmonary infections in cystic fibrosis patients

A

Pseudomonas

Staph aureus

209
Q

Most common pulmonary symptom in cystic fibrosis

A

Chronic cough

210
Q

Respiratory symptx in CF

A

Digital clubbing, chronic cough, dyspnoea, bronchiectasis, haemoptysis, chronic sinusitis, rhonchi, rales, Hyperresonance to percussion, nasal polyposis

211
Q

Symptoms of pancreatic insufficiency in CF

A

Greasy stools, Flatulence

Pancreatitis, rectal prolapse, Hypoproteinaemia, biliary cirrhosis, jaundice, oesophageal varices

212
Q

Additional atypical symptoms of cystic fibrosis

A

T2DM, salty tasting skin, male infertility (agenesis of the vas deferens ), unexplained hyponatraemia

213
Q

Vitamin deficiency in cystic fibrosis

A

Vitamins A, D, E, K

Secondary to malabsorption and they present with manifestations of these deficiencies (i.e., Nightblindness, Ricketts, neuropathy, coagulopathy)

214
Q

Diagnosis of cystic fibrosis

A

Sweat chloride test (pilocarpine electrophoresis)

Genetic testing for confirmation

Most states now perform mandatory newborn screening

215
Q

Treatment and management of cystic fibrosis

A

Chest physical therapy, bronchodilators, corticosteroids for pulmonary manifestations

Antibiotics to cover pseudomonas and DNase

Pancreatic enzymes and fat-soluble vitamins for malabsorption

High calorie and high protein diet

Lung or pancreas transplants for those with severe disease who can tolerate surgery

216
Q

Definition of intussusception

A

Portion of the bowel invaginates or telescopes into an adjacent segment, usually proximal to the ileocecal valve

217
Q

Most common cause of balance traction and children between six months and three years

A

Intussusception

218
Q

Risk factors for intussusception

A

Meckels diverticulum; Intestinal lymphoma (>6 yrs); Submucosal haematoma (HSP); Polyps; CF (lead point is inspissated stool)

Antecedent GI or URI Is seen in many children, which may cause formation of a lead point trough enlargement of Peyer patches

219
Q

Classic triad of intussusception (only 1/3 pts)

A

Severe of abdo pain; Vomiting (initially non-bilious then bilious); currant jelly stool (bloody mucus in stool)

220
Q

Abdominal tenderness, positive stool guaiac, Palpable sausage shaped RUQ abdominal mass, empty RLQ on palpation (Dance sign)

A

Intussusception

221
Q

Diagnosis of intussusception

A

Target sign on USS(During painful episode)

AXR:‘s small bowel obstruction, Perforation, soft tissue mass

222
Q

Management of intussusception

A

Correct volume/electrolytes; CBC for leucocytosis, NG tube for decompression

Air insufflation enema (if high clinical suspicion)

223
Q

Indications for surgical reception in intussusception

A

Peritoneal signs, unsuccessful enema reduction, Identification of a pathological lead point

224
Q

Which is the preferred diagnostic method, barium contrast enema or air insufflation enema?

A

Air insufflation enema

Preferred over water or barium contrast enema for diagnosis and management of intussusception, as it is faster and carries a low risk of complications

225
Q

Most common cause of GI tract obstruction in infancy

A

Pyloric stenosis

Nearly all cases are diagnosed between three and 12 weeks of age

226
Q

Definition of pyloric stenosis

A

Hypertrophy of the pyloric sphincter, leading to gastric outlet obstruction

More common in first born infant boys

227
Q

Associations in pyloric stenosis

A

Tracheoesophageal fistula, Formula feeding, maternal erythromycin ingestion

228
Q

Non-bilious emesis typically beginning around 3 to 5 weeks of age progressing to projectile emesis after most or all feeding

A

Pyloric stenosis

Infants are generally hungry after episodes of vomiting; they initially said feed well but eventually suffer from dehydration and malnutrition

229
Q

Palpable olive shaped, mobile, non-tender epigastric mass and visible gastric peristaltic waves

A

Pyloric stenosis

230
Q

Diagnosis of pyloric stenosis

A

Thickened, elongated pylorus on USS

Hypochloraemic, hypokalaemic metabolic alkalosis (loss of HCL and RAAS activation from emesis)

String sign (narrow pyloric channel on barium studies)

231
Q

Management of pyloric stenosis

A

NPO, IV access, correct dehydration and acid base or electrolyte abnormalities

Definitive surgical management (pyloromyotomy)

232
Q

A three-year-old boy born at 39 weeks gestational age via normal spontaneous vaginal delivery has failed to pass meconium and today displays abdominal distension and five episodes of non-bilious vomiting. Rectal exam shows no stool in the rectal vault.

Air contrast enema shows an obstruction at the ileum.What is the most likely cause of this patient symptoms?

A

This infant most likely has meconium ileus resulting from cystic fibrosis

However, Hirschsprung’s disease should remain on the differential diagnosis, as it also can cause delayed meconium passage. Meconium ileus causes obstruction of the level of the ileum, whereas Hirschsprung’s disease causes rectosigmoid obstruction and rectal exam may result in the expulsion of stool.

233
Q

Most common complication of Meckel diverticulum

A

Bleeding

It may be minimal, or severe enough to cause haemorrhagic shock

234
Q

Meckel’s rule of 2s

A 
Affects 2% of the population
2% symptomatic by age 2
2X more common in boys
2 tissues (Gastric and pancreatic)
2 inches long
Within 2 feet of the ileocecal valve
235
Q

Definition of Meckel’s diverticulum

A

Failure of the omphalomesenteric (or vitelline) duct to obliterate, resulting in the formation o a true diverticulum (containing all 3 layers of the intestine)

The heterotopia gastric tissue present in most Meckels diverticula causes intestinal ulceration and painless haematochezia

236
Q

Most common congenital abnormality of the small intestines affecting up to 2% of children

A

Meckel’s diverticulum

Boys more than girls

Most frequently symptomatic in children under two years of age

237
Q

Asymptomatic with an incidental finding of painless rectal bleeding

A

Meckels diverticulum

238
Q

Complications of Meckel’s diverticulum

A

Intestinal perforation or obstruction, diverticulitis (which can mimic acute appendicitis), intussusception

239
Q

Diagnostic test of choice for Meckel’s diverticulum

A

Meckel scintigraphy scan

Tn-99m pertechnetate detects ectopic gastric tissue

240
Q

Treatment of Meckel’s diverticulum

A

Surgical excision of the diverticulum together with the adjacent ileal segment

Indications for urgent surgery:
– haemorrhage
– divericulitis
– intestinal perforation
– obstruction or intussusception
241
Q

Definition of Hirschsprung’s disease

A

Congenital lack of ganglion cells in the distal colon, leading to decreased motility due to unopposed smooth muscle tone in the absence of enteric relaxing reflexes and uncoordinated peristalsis

242
Q

Associated diseases to Hirschsprung’s disease

A

Male gender, down syndrome, Waardenburg syndrome, MEN2

243
Q

Neonate presenting with failure to pass meconium within 48 hours of birth, accompanied by bilious vomiting and FTT

A

Hirschsprung’s disease

244
Q

Examination findings in Hirschsprung’s disease

A

Explosive faecal discharge following DRE

Abdominal distension, lack of stool in the rectum, abnormal sphincter tone

245
Q

Imaging study of choice for Hirschsprung’s disease

A

Barium enema

Reveals a narrow distal colon with proximal dilation

AXR Reveals distended bowel loops with the paucity of air in the rectum

Anorectal manometry: The text failure of the internal sphincter to relax after distension of the rectal lumen (atypical presentation)

Rectal biopsy for confirmation

246
Q

Definitive diagnostic test for Hirschsprung’s disease

A

Rectal biopsy

Confirms the diagnosis and reveals absence of the myenteric (Auerbach) plexus and submucosal (Meissner) plexus along with hypertrophied nerve trunks enhanced with acetylcholinesterase stain

247
Q

Surgical treatment of Hirschsprung’s disease

A

2 stage surgical repair:
– Immediate creation of a diverting colostomy
– definitive pull through procedure connecting the remaining colon to the rectum few weeks later

248
Q

A three week old ex-term infant boy is brought to the ED after experiencing vomiting of increasing frequency and intensity for the past week. His parents state that he now vomits forcefully after every meal and enthusiastically attempts to eat immediately after vomiting. The infant appears lethargic, with sunken fontanelles and decreased skin turgor. The abdomen is soft, non-tender, and non distended; no masses of felt. What is the most likely cause of this infant symptoms?

A

Pyloric stenosis

An obstruction of the gastric outlet secondary to hypertrophy and hyperplasia of the muscle layers of the pylorus.

Note that most (60 to 80%) but not all infants present with an olive shaped abdominal mass

249
Q

Definition of malrotation with volvulus

A

Congenital malrotation of the midgut results and abnormal positioning of the small intestine (caecum in the right hypochondrium) and formation of fibrous bands (Ladd bands), which predisposed to obstruction and constriction of bloodflow

250
Q

Three week old neonate with bilious emesis, crampy abdominal pain, distension, and positive blood or mucus in the stool

A

Malrotation with volvulus

251
Q

Abdominal x-ray findings in malrotation of the volvulus

A

Bird beak appearance and air fluid levels

252
Q

Investigation of choice in malrotation with volvulus

A

Upper GI series

If the patient is stable and shows an abnormal location of the ligament of Treitz.
Ultrasound may be used, but is sensitivity is contingent on the experience of the ultrasonographer.

253
Q

Management of malrotation with volvulus

A

NG tube to decompress intestines, IV fluid hydration

Surgical repair (gastric); surgery or endoscopy (intestinal)

254
Q

Definition of necrotising enterocolitis

A

A portion of the bowel (most commonly terminal ileum/proximal colon) undergoes necrosis

255
Q

Most common GI emergency in neonates

A

NEC

256
Q

Risk factors for NEC

A

Low-birth-weight, hypotension, enteral feeding (especially formula)

257
Q

One week old with feeding intolerance, delayed gastric emptying, abdominal distension, and bloody stools

A

NEC

258
Q

Complications of NEC

A

Intestinal perforation, peritonitis, abdominal erythema, and shock; Intestinal strictures; short bowel syndrome

259
Q

Pathognomonic for NEC in neonates

A

Pneumatosis intestinalis on plain films

260
Q

Imaging modality of choice in NEC

A

Plain AXR showing dilated bowel oops, pneumatosis intestinalis (intramural air bubbles representing gas produced by bacteria within the bowel wall), Portal venous gas, or abdominal free air (in the case of bowel perforation)

Serial abdominal pain film should be taken every six hours

USS may be also be helpful in discerning free air, areas of loculation, and bowel necrosis

261
Q

Management of NEC

A

Supportive: NPO, Orogastric tube for gastric decompression, correct dehydration and electrolyte, TPN, IV Abx

Surgery– Ileostomy with mucous fistula later reanastomosis

262
Q

Indications for surgery in the NEC

A

Perforation (free air under the diaphragm)Or worsening radiographic signs on serial abdominal plain films

263
Q

B cells or T cells: Make immunoglobulins and are responsible for immunity against extra cellular bacteria

A

B cells

264
Q

B cells or T cells: Responsible for immunity against intracellular bacteria, viruses, and fungi

A

T cells

265
Q

Name the B-cell disorders

A

Bruton agammaglobulinaemia

Common variable immuno deficiency (CVID)

IgA deficiency

266
Q

Name the T-cell disorders

A

Thymic aplasia (DiGeorge syndrome)

267
Q

Name of the combined b-cell T-cell disorders

A

Ataxia-telangiectasia

SCID

Wiskott-Aldrich syndrome

268
Q

Name the phagocytic deficiencies

A

Chronic granulomatous disease (CGD)

Leucocyte adhesion deficiency

Chédak-Higashi syndrome

Job syndrome (hyper immunoglobulin E syndrome)

269
Q

Name the compliment disorders

A

C1 esterase inhibitor deficiency (hereditary angioedema)

Terminal complements deficiency (C5-9)

270
Q

Untreated Kawasaki disease can lead to _________ in up to 25% of patients

A

Coronary aneurysms

271
Q

Newborn presents with lymphoedema of the hands and feet, weak femoral pulses, webbed neck, widely spaced nipples, short 4th metacarpals, and nail dysplasia. What form of hormone replacement therapy will the child need in the future?

A

Oestrogen replacement therapy is required for ovarian dysgenesis

Without exogenous oestrogen, this child will be at increased risk of delayed puberty and osteoporosis later in life

HJ S2RR (16 decks)

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