1. Coarctation of aorta
2. Phaeochromocytoma
3. Chronic renal failure
4. Bronchial carcinoid
5. Essential hypertension

1. Hereditary spherocytosis - autosomal recessive transmission
2. MELAS - mitochondrial transmission
3. Beckwith syndrome - genomic imprinting
4. G6PD deficiency - X linked recessive
5. Myotonic dystrophy - triplet repeat sequences

1. It is a Gram negative bacillus
2. Causes chronic fundal gastritis
3. Implicated with duodenal ulcers in childen
4. Can be eradicated with omeprazole treatment
5. Causes gastric erosions

1. Uncommon genital tract pathogen
2. Colonisation of the genital tract is decreased in pregnancy
3. Invasive disease in a baby follows vaginal delivery only
4. Benzyl penicillin is the drug of choice
5. Prolonged rupture of membranes is a risk factor for invasive GBS disease

1. Deafness
2. Hydrocephalus
3. Ependymoma
4. Monoparesis
5. Subdural empyema

1. Surfactant deficiency
2. Persistent fetal circulation
3. Transposition of great arteries
4. Meconium aspiration syndrome
5. Mikity Wilson syndrome

1. Chronic granulomatous disease
2. Di George syndrome
3. X linked hypogammaglobulinemia
4. Chronic mucocutaneous candidiasis
5. Chediak Higashi syndrome

1. There is no effective vaccine
2. P vivax causes severe cerebral involvement
3. Chloroquine resistance is rife all over Africa
4. P falciparum only infects older red cells
5. P vivax causes relapses

1. Foreign body
2. Precocious puberty
3. Carcinoma of the vagina
4. Trichomonas vaginitis
5. Candidiasis

1. Raised ESR
2. Barium swallow
3. Raised platelet count
4. Granulomas in gut wall
5. Anal fissure

1. Raised fibrinogen level
2. Raised APTT
3. Low D dimers
4. Raised platelets
5. Raised PT

1. Cardiomyopathy
2. Subluxation of atlanto-axial joint
3. Intracranial hemorrhage
4. Respiratory failure
5. Mental retardation

1. Alport syndrome
2. Dermatitis herpetiformis
3. Berger's disease
4. Cystinuria
5. Cystinosis

1. Recurrent Salmonella bacteremia
2. Growth failure
3. Lymphocytic interstitial pneumonitis
4. Kaposi sarcome
5. Cryptosporidium diarrhoea

1. Ebstein pearls
2. Erythema multiforme
3. Harlequin change
4. Collodion baby
5. Erythema toxicum

1. VSD
2. ASD
3. PDA
4. AR
5. Cardiomyopathy

1. Angelman syndrome
2. Petit mal
3. West syndrome
4. Benign rolandic seizures
5. Lennox-Gastaut syndrome

1. Alert to sound
2. Crawl
3. Reach out for objects
4. Turn supine to prone
5. Lift head up in prone position

1. E coli
2. Group B Streptococcus
3. Coagulase negative Staphylococci
4. Staphylococcus aureus
5. Listeria

1. Germinal matrix hemorrhage
2. Choroid plexus cysts
3. Subdural hemorrhage
4. Periventricular leucomalacia
5. Agenesis of corpus callosum

1. Hypothyroidism
2. Down's syndrome
3. Rickets
4. GH deficiency
5. Constitutional short stature

1. Adrenal cortex
2. Parasympathetic ganglia
3. Langerhans cells
4. beta cells of the pancreas
5. pneumocytes type II

1. High pressure ventilation
2. High PEEP
3. Oxygen free radicals
4. Dietary sodium content
5. Formula feeds

1. II
2. IV
3. VII
4. XIII
5. X

1. Cholestasis
2. Hypertriglyceridemia
3. Infection
4. Hyperglycemia
5. Zinc deficiency

1. Ataxia telangiectasia
2. Bloom syndrome
3. Fanconi's anemia
4. Xeroderma pigmentosa
5. Keratoderma blenorrrhagica

1. Wrist drop
2. Hyponatremia
3. Gut bleeding
4. Encephalopathy
5. Cardiomyopathy

1. 24 OH deficiency
2. HMG CoA reductase
3. 11 B hydroxylase
4. Aldolase
5. 3 B steroid dehydrogenase

1. Copper deficiency
2. Zinc deficiency
3. Lead deficiency
4. Iron deficiency
5. Selenium deficiency

1. Ear tugging
2. Red tympanic membrane
3. decreased mobility of the eardrum
4. Abnormal light reflex
5. Ear ache

ANSWERS

1. T F T F F

CoA which does not present at birth or in infancy can present later with isolated hypertension. There is a characteristic radiofemoral delay and weak femoral pulses. A gradient of >20 mmHg between the arm and leg should raise the suspicion of CoA

Catecholamine secreting tumours are rare in children except in association with NF type 1 and in Schmidt syndrome

Renal causes are the commonest causes for chronic hypertension in children.

Rare in children and causes episodes of flushing, vasodilation and hypotension

Commoner in adolescents with a family history of essential hypertension

2. F T T T T

AD

Mitochondrial encephalomyopathy, Lactic acidosis and stroke-like episodes (MELAS) present with delayed cognitive and motor milestones as well as a seizure disorder. Alternate hemiparesis ensues.

Depending on the parent of origin, certain genes express different phenotypes. This is imprinting and is classically seen in Angelman syndrome vs Prader-Willi syndrome.

3. T F T F F

It is a spiral Gram negative bacillus which resembles Campylobacter.

Causes chronic antral gastritis which is commonly associated with peptic ulcer disease, carcinoma and lymphoma.

Treatment is with triple therapy most commonly using a bismuth compound, ampicillin and metronidazole for long periods upto 4-6 weeks. This causes eradication in nearly 75-95% cases.

Gastric erosions are common with NSAIDs and steroids as well as with stress and head injury.

4. F F F T T

GBS is a common genital tract pathogen in most countries although there is a wide variation between developed and developing nations (less in the latter)

There is a 30% colonisation rate in pregnant women.

Following a CS, there is a risk of GBS transmission although it is greater if the delivery is vaginal.

The antibiotic that GBS responds to most often is penicillin. In practice, synergistic treatment with an aminoglycoside is used.

5. T T F F T

Pneumococcal as well as Hemophilus meningitis can cause severe deafness as sequelae. Treatment with dexamethasone at the beginning can prevent this complication (definite benefit in Hemophilus).

Meningococci on the other hand do not seem to cause deafness

Either a communicating or non communicating hydrocephalus can result from meningitis. The former may be due to disruption of arachnoid villi.

Brain tumours are not a complication of meningitis

A true monoparesis is very uncommon except in diseases like polio, SLE, RA etc.

A subdural collection is common in pneumococcal infection and presents with continuing fever, increasing HC and bulging AF after initiating antibiotic therapy.

6. F T T F F

In pulmonary causes of hypoxia, tachypnea and respiratory distress is a feature.

An extrapulmonary shunt through the ASD or PDA causes a R-L shunt which cannot be reversed with O2 administration and typically presents in a child with no tachypnea

Cyanotic heart disease presents with similar features.

Although pulmonary hypertension may be associated with MAS, there is respiratory distress in this disease.

A form of CLD in VLBW infants not treated with mechanical ventilation presenting after 1 week of age with insidious onset of tachypnea and hypoxia

7. T T F T F

This is a neutrophil killing defect due to deficient NADPH oxidase. Common infections are bacterial (recurrent Staph infections) and fungal

Di George syndrome comprises of T cell defects which commonly present with fungal infections.

Common infections are bacterial, although susceptibility to Giardiasis, Pneumococcal chronic conjunctivitis, Hep A viruses and ECHO viruses is typical.

Skin, nails and mucous membranes are affected with candidal infection. Affected patients have oculocutaneous albinism

Neutrophil chemotaxis is impaired.

8. T F F F T

Although there are many vaccines available including against the trophozoites and sporozoites, there is no effective vaccine yet.

P falciparum is resposible for cerebral malaria and is the most dangerous of the four types of parasites

There are pockets of chloroquine sensitivity in Africa, especially Northern areas. In the Sub-Saharan regions, resistance is common.

All ages of red cells are affected leading to the extreme severity of the disease and hemolysis.

Due to an exoerythrocytic cycle, there are hypnozoites in the liver cells which may cause relapses unless treated with primaquin

9. T T T T T

An infected foreign body is a common cause for foul smelling vaginal discharge in prepubertal girls.

Menarche may be a cause for vaginal discharge

Although very rare, tumours of the vagina can cause either a bloody or clear discharge

As a sexually transmitted pathogen, the importance of this cause is in the fact that it points to sexual abuse.

Vulvovaginal infection causes discharge. Immunodeficiency or diabetes is suspected in previously well children

10. F F F T F

It is only an indicator of the severity of inflammation and is not a diagnostic finding.

A barium meal and followthrough may show up typical ulcers and narrowing due to strictures, but a swallow is useless as a diagnostic tool

Again this is an indicator of inflammation only

A biopsy showing granulomas is diagnostic. These are non-caseating and involve all layers of the gut wall

11. F T F F T

It is usually low due to the consumption

Coagulation indices are raised due to deficient clotting factors

D dimers are fibrin degradation products and are typically raised in DIC

Thrombocytopenia results from the consumption

12. T T F T F

13. F T F T F

Hereditary sensorineural deafness and renal failure. X linked

Vesicular lesions over the hips and buttocks, IgA mediated immune response in the skin

IgA nephropathy. Associated with renal failure in upto 30% adult cases, but less in childhood. Presents with painless gross or microscopic hematuria along with a viral URTI

Cystinosis is a metabolic illness (AR transmission).

14. T T T F F

15. T F T F T

Epithelial pearls at the tip of the penis or on the palate are common in neonates and are normal findings

This is a rash with target lesions seen in children with infections such as herpes or Mycoplasma, as well as as a drug reaction to sulfa drugs.

This is a vasomotor phenomenon which causes one half of the body to go bright red while the other half goes pale.It is transient and is benign.

Although there may be no sequelae to this condition, many infants are affected by congenital ichthyosis in later life

This is a benign rash appearing on the second or third day with a central pustule and surrounding red base. Unknown cause - eosinophils on smear.

16. T F T T F

17. T F T F F

Typical seizures in Angelman syndrome are myoclonic.

Typical absence seizures are seen in this, but in atypical cases other seizure types like tonic-clonic, atonic and myoclonic may be seen.

Infantile spasms are typically myoclonic. These may be flexor or extensor spasms. The EEG is typical and shows hypsarrhythmia (chaotic EEG pattern).

Usual presenting features are focal seizures involving the face and eyes in sleep. EEG shows centro-temporal spikes on the side of the lesion.

This is a complex epilepsy syndrome with atonic seizures.

18. F T F T F

19. F F T T F

This is an commonly an early onset pathogen

Same case, although late onset GBS infection can occur.

Staph epidermidis is the commonest late onset pathogen. Most are resistant to flucloxacillin and need treatment with either vancomycin or teicoplanin

20. T T F T T

This is the common form of bleed in a preterm infant occuring in the caudo-thalamic groove in the germinal matrix (a poorly supported neural tissue in preterm infants 24-30 wks).

Most of these are antenatal and disappear with gestation. There is an association between these and chromosomal abnormalities.

US is a poor tool to visualise the sub-dural space and may miss hemorrhages.

This is an ischemic lesion occuring in mostly preterm infants due to poor blood supply to the periventricular area. May take a cystic form or a non-cystic form and is seen on an US around 2-3 weeks age.

This is a relatively easily identifiable lesion on cranial US and may be part of a syndrome like Aicardi syndrome or clinically asymptomatic.

21. T T T T T

22. F F T F F

23. T F T F F

Barotrauma has been implicated in the pathogenesis of CLD.

It is usually the high PIP that causes barotrauma not a high PEEP

Oxygen toxicity has been a putative risk factor for CLD

24. T F T F T

25. T T T T T

By uncertain mechanisms which may include just starvation, hepatic cholestasis and enzyme elevation occur with long term TPN

Inability to metabolise the intralipid component may cause high TGs, especially in preterm infants.

These may be partly a function of the line used in delivering TPN

26. T T T T F

AR disorder with progressive neurological deterioration and skin as well as conjunctival telangiectasia.

DNA repair defects are seen as well as immune deficiencies

Severe growth failure, photosensitivity and malignancies along with DNA repair defects and immune defects

Constitutional pancytopenia with evidence of skeletal anomalies

27. T T T T F

Peripheral neuropathy is a neurotoxic feature of vincristine. Foot drop, paresthesias, loss of ankle jerks may also occur

An SIADH type picture may develop with dilutional hyponatremia and seizures.

Mucositis of the entire GIT may occur with bleeding

Although other agents like asparaginase and methotrexate given IT can cause this effect, vincristine can also produce this toxicity

This is seen with doxo and daunorubicin

28. F F T T T

The commonest form is the 21 OH deficiency. It presents either with a salt losing form in 60% cases or as a simple virilising form in the rest. Neonatal ambiguous genitalia should alert to this condition

29. T T F T F

30. F F T T F

© Copyright Ram's MRCP Teaching 1999