00
Correct
00
Incorrect
00 : 00 : 00
Session Time
00 : 00
Average Question Time ( Mins)
  • Question 1 - Absence of which of the following milestones warrants further assessment in a 15-month-old...

    Correct

    • Absence of which of the following milestones warrants further assessment in a 15-month-old child?

      Your Answer: Stand holding onto furniture

      Explanation:

      By 15 months, it’s common for many toddlers to:- say three to five words.- understand and follow simple commands.- point to one body part.- walk alone and begin to run.- climb on furniture.- make marks with a crayon.- imitate activities, such as housework.

    • This question is part of the following fields:

      • Child Development
      7.4
      Seconds
  • Question 2 - A 10-year-old boy sustained a fracture of his right elbow, which damaged the...

    Incorrect

    • A 10-year-old boy sustained a fracture of his right elbow, which damaged the ulnar nerve behind the medial epicondyle of the humerus. A month later, he still has a total ulnar nerve paralysis. Which of the following can be observed on examination?

      Your Answer: Sensory loss over the ulnar 3½ digits on the ulnar side of the hand

      Correct Answer: Inability to grip a sheet of paper between his fingers when the hand is placed flat on the table

      Explanation:

      Among the given options, the inability to grip a sheet of paper between his fingers when the hand is placed flat on the table is the feature of ulnar nerve injury. Rationale:The ulnar nerve (usually) supplies sensation to the skin of the fifth and the ulnar side of the fourth finger, front and back. Following the injury of the nerve, the following functions are impaired:- There is a sympathetic interruption, with the absence of sweating in the affected area. – The thenar muscles are supplied by the median nerve and are therefore spared. – The ulnar nerve also supplies the muscles of the hypothenar eminence. – Although the ring and little fingers are held in the clawed position when the nerve is injured at the wrist, a high lesion paralyses the long flexors to these two fingers and results in the loss of this sign. The test for paralysis of the palmar interossei, supplied by the ulnar nerve, is the inability to adduct the fingers and thus to be unable to grip a sheet of paper between them.

    • This question is part of the following fields:

      • Anatomy
      28
      Seconds
  • Question 3 - A 9-year-old boy was conservatively managed for an appendicular mass. The parents enquire...

    Correct

    • A 9-year-old boy was conservatively managed for an appendicular mass. The parents enquire whether to have an interval appendicectomy to prevent the chances of having appendicitis again. What percentage of patients with conservatively managed appendix mass are likely to develop recurrent appendicitis?

      Your Answer: 0-20%

      Explanation:

      The chance of having appendicitis again after appendix mass is around 17% in children. While the traditional teachings by Hamilton Bailey recommend following the conservative Ochsner-Sherren regimen followed by an interval appendicectomy six weeks after the discharge of the patient, there remains a looming controversy whether to perform an interval appendicectomy or not.

    • This question is part of the following fields:

      • Paediatric Surgery
      7.8
      Seconds
  • Question 4 - Which is true regarding the histopathology of psoriasis? ...

    Incorrect

    • Which is true regarding the histopathology of psoriasis?

      Your Answer: The stratum granulosum is thickened in patients with psoriasis

      Correct Answer: Histological features seen in psoriasis include acanthosis and parakeratosis

      Explanation:

      Histology of psoriasis is characterised by parakeratosis (cell nuclei within stratum corneum) and thickened projections of the prickle cell layer of keratinocytes (psoriasiform hyperplasia or acanthosis). Orthokeratosis refers to the formation of a pathological anuclear keratin layer in the skin.The stratum granulosum is actually thinned or absent in patients with psoriasis.

    • This question is part of the following fields:

      • Dermatology
      5.8
      Seconds
  • Question 5 - Which of the following conditions is associated with hypogonadism in boys? ...

    Incorrect

    • Which of the following conditions is associated with hypogonadism in boys?

      Your Answer: Primary hypothyroidism

      Correct Answer: Gigantism

      Explanation:

      Hypogonadism is found to be a feature in gigantism also known as acromegaly, a condition caused by growth hormone abnormalities. The most common cause of gigantism is a pituitary adenoma. Hypogonadism exists among other endocrinopathies found in gigantism. Other causes of hypogonadism include Kleinfelter’s syndrome, which is characterized by premature testicular failure. The other options listed, primary hypothyroidism, teratoma, tuberous sclerosis and hepatoblastoma are all associated with precocious puberty.

    • This question is part of the following fields:

      • Endocrinology
      15.6
      Seconds
  • Question 6 - A 11 month old baby develops periumbilical abdominal discomfort and diarrhoea after having...

    Correct

    • A 11 month old baby develops periumbilical abdominal discomfort and diarrhoea after having a sore throat and fever for a few days. He presents to the A&E department and an ultrasound is done which shows a 'target sign' on the right side of the abdomen. What is the best initial course of action?

      Your Answer: Obtain intravenous access, administer fluids and antibiotics

      Explanation:

      Answer: Obtain intravenous access, administer fluids and antibiotics.Intussusception is a condition in which one segment of intestine telescopes inside of another, causing an intestinal obstruction (blockage). Although intussusception can occur anywhere in the gastrointestinal tract, it usually occurs at the junction of the small and large intestines. The obstruction can cause swelling and inflammation that can lead to intestinal injury. The patient with intussusception is usually an infant, often one who has had an upper respiratory infection, who presents with the following symptoms:Vomiting: Initially, vomiting is nonbilious and reflexive, but when the intestinal obstruction occurs, vomiting becomes biliousAbdominal pain: Pain in intussusception is colicky, severe, and intermittentPassage of blood and mucus: Parents report the passage of stools, by affected children, that look like currant jelly| this is a mixture of mucus, sloughed mucosa, and shed blood| diarrhoea can also be an early sign of intussusceptionLethargy: This can be the sole presenting symptom of intussusception, which makes the condition’s diagnosis challengingPalpable abdominal massDiagnosis:Ultrasonography: Hallmarks of ultrasonography include the target and pseudo kidney signs.For all children, start intravenous fluid resuscitation and nasogastric decompression as soon as possible.

    • This question is part of the following fields:

      • Paediatric Surgery
      40.4
      Seconds
  • Question 7 - A 15-year-old Afro-Caribbean boy presents with a temperature of 37.2℃ and acute abdominal...

    Correct

    • A 15-year-old Afro-Caribbean boy presents with a temperature of 37.2℃ and acute abdominal pain. He has previously undergone a splenectomy secondary to sickle cell disease. Clinically he is jaundiced. An ultrasound scan demonstrates a common bile duct diameter of 10mm. What is the most likely diagnosis?

      Your Answer: Impacted Gall Stone

      Explanation:

      Based on the clinical scenario provided, this patient most probably has impacted gall stones. Gall stones in children can be caused by haematological diseases such as sickle cell anaemia and thalassemia. Cholesterol stones are also becoming more prevalent. A dilated common bile duct (> 10mm in adults) suggests gall stone impaction. The presence of pyrexia indicates cholecystitis.

    • This question is part of the following fields:

      • Paediatric Surgery
      4.2
      Seconds
  • Question 8 - A 16 year old patient was admitted with walking difficulties and knee pain....

    Correct

    • A 16 year old patient was admitted with walking difficulties and knee pain. Upon examination, his leg is externally rotated and is 2cm shorter. His ability to flex, abduct and medially rotate his leg is limited and when he flexes his hip, external rotation is increased. What is the most probable diagnosis?

      Your Answer: Slipped femoral epiphysis

      Explanation:

      The clinical presentation is typical of a slipped femoral epiphysis, which refers to a fracture through the growth plate (physis), resulting in slippage of the overlying end of the femur. It is the most common hip disorder in adolescence. SCFEs usually cause groin pain on the affected side, but sometimes cause knee or thigh pain. The range of motion in the hip is restricted in internal (medial) rotation, abduction, and flexion.

    • This question is part of the following fields:

      • Musculoskeletal
      22.8
      Seconds
  • Question 9 - Which of the following statements is true regarding eczema herpeticum? ...

    Incorrect

    • Which of the following statements is true regarding eczema herpeticum?

      Your Answer: Should never be treated with antivirals

      Correct Answer: Is usually associated with lymphadenopathy

      Explanation:

      Eczema herpeticum (also called Kaposi varicelliform eruption) is a disseminated viral illness usually associated with lymphadenopathy.It is most often caused by Herpes Simplex type 1 or type 2. Occasionally, other viruses such as coxsackievirus A16 may cause eczema herpeticum. Affected children usually develop itchy blisters and fever after coming in contact with an affected individual who may or may not display cold sores.It is characterised by an itchy and sometimes painful cluster of blisters most commonly on the face initially. This spreads over one to several weeks resulting in further crops of blisters which can become confluent. Lymphadenopathy and fever are common in these patients.The severity varies from mild illness to life-threatening, especially in immunocompromised children or young infants. It is markedly more common in children with atopic dermatitis. It is one of the few dermatological emergencies, and oral antivirals are often indicated. Referral to an ophthalmologist may be needed if there is eyelid or eye involvement. Occasionally, superadded skin infections caused by staphylococci and streptococci can occur.

    • This question is part of the following fields:

      • Dermatology
      12.2
      Seconds
  • Question 10 - A 6-year-old girl is brought to the hospital by concerned parents. The teachers...

    Correct

    • A 6-year-old girl is brought to the hospital by concerned parents. The teachers of her school have brought to their attention that she struggles to see the whiteboard in class. The parents have also noticed that she has difficulty when looking at the computer.Except for being a nervous reader at times, the parents haven't noticed anything else unusual. She's otherwise healthy and plays well with her friends.What is the most probable diagnosis for this child?

      Your Answer: Refractive error

      Explanation:

      Based on the presentation, the child most probably is suffering from a refractive error.Astigmatism, myopia and high hypermetropia could all cause these symptoms. This child has difficulty in using vision for finer tasks such as reading. Mild to moderate refractive error would not impair the child’s ability to play or even watch television as for the child in question. Note: Refractive error is the most common treatable cause of reduced vision in children all over the world! Other options:- A congenital cataract is rare and retinal dystrophy is even rarer. – Amblyopia would suggest poor vision in only one eye, something that might not cause symptoms in this age group. – Parents or teachers would have probably noticed squint if it was present.

    • This question is part of the following fields:

      • Ophthalmology
      5.7
      Seconds
  • Question 11 - A 6 year old boy presented in the emergency department with a cough...

    Correct

    • A 6 year old boy presented in the emergency department with a cough and knee swelling after falling on the road. He had a non-blanching rash on his buttocks and investigations revealed: PT=13, APTT=71, Hgb=11, WBC=8, Plt=200. Which is the most likely diagnosis?

      Your Answer: Haemophilia

      Explanation:

      From the options mentioned here, the closest diagnosis is haemophilia. This is a mixed picture, as a purpuric rash on the buttocks does not correlate with this diagnosis. However, the most appropriate diagnosis is haemophilia.

    • This question is part of the following fields:

      • Haematology And Oncology
      16.6
      Seconds
  • Question 12 - A 6 year old child diagnosed with minimal change nephrotic syndrome, presents with...

    Incorrect

    • A 6 year old child diagnosed with minimal change nephrotic syndrome, presents with lower limb oedema. Which of the following is most likely lost upon urination?

      Your Answer: Vitamins A, D, E, and K

      Correct Answer: Anti-thrombin III

      Explanation:

      Minimal change nephrotic syndrome leads to the loss of anti-thrombin III which protects the body from forming venous emboli. It may be triggered by virus, immunisations, medication, non-Hodgkin lymphoma, or leukaemiaCharacterised by oedema, proteinuria, hypoalbuminemia, and hypercholesterolemia.

    • This question is part of the following fields:

      • Nephro-urology
      7.9
      Seconds
  • Question 13 - A 13-month-old boy presents to the hospital with a rash and breathing difficulties...

    Incorrect

    • A 13-month-old boy presents to the hospital with a rash and breathing difficulties following routine vaccination. On examination, it was noted that he was developing swelling around the mouth and neck.What is the most appropriate next step to manage this child?

      Your Answer: IM adrenaline 50 mcg (0.05ml of 1 in 1,000)

      Correct Answer: IM adrenaline 150 mcg (0.15ml of 1 in 1,000)

      Explanation:

      The IM dose of adrenaline for anaphylaxis in:< 6 months: 150 micrograms (0.15ml 1 in 1,000)6 months - 6 years: 150 micrograms (0.15ml 1 in 1,000)6 - 12 years: 300 micrograms (0.3ml 1 in 1,000)Adult and child > 12 years: 500 micrograms (0.5ml 1 in 1,000)Anaphylaxis:Anaphylaxis is an acute, rapidly progressing, potentially life-threatening IgE mediated Type I hypersensitivity reaction.It involves the release of mediators from mast cells, basophils and inflammatory cells. It is characterised by oedematous swelling of the airway mucosa giving rise to dyspnoea and respiratory distress. The most common cause of anaphylaxis in children is a food allergy.Risk factors for death in patients with anaphylaxis include asthma, age 11+, peanut allergy, and delay in adrenaline administration.Management of anaphylaxis includes:- ABCD- Remove the allergen- IM adrenaline or Nebulised adrenaline- IV Hydrocortisone – pro re nata IV fluid support. – Followed by observation.

    • This question is part of the following fields:

      • Emergency Medicine
      6.5
      Seconds
  • Question 14 - A 10-year-old girl presents to the hospital with complaints of fever, painful joints,...

    Correct

    • A 10-year-old girl presents to the hospital with complaints of fever, painful joints, and a rash. Her parents insist that she was otherwise well except for a history of sore throat 2 weeks before.On examination, she appears quite unwell with a temperature reading of 38.5°C. She was found to be tachycardic, hypertensive and with an erythematous rash with raised edges noted on the anterior aspect of her abdomen. Her left ankle and right elbow joints are swollen, and she has multiple painless subcutaneous nodules under her skin. Auscultation revealed an apical mid-diastolic murmur. Blood investigations reveal leucocytosis and raised C-reactive protein (CRP) levels. Erythrocyte sedimentation rate (ESR) was also above normal limits for her gender and age. An ECG confirms the presence of a tachycardia, a prolonged PR interval, and flat inverted T waves.What is the most probable diagnosis for this child?

      Your Answer: Rheumatic fever

      Explanation:

      The most probable diagnosis for this child would be rheumatic fever due to a previous history of rheumatic fever, evidence of streptococcal disease from a throat swab, a raised ASO titre and a positive streptococcal antigen test or a leukocytosis.Acute Rheumatic Fever:ARF occurs because of an abnormal immune response to a streptococcal antigenic component. It has a latent period of 1–3 weeks and is more common in the lower socio-economic classes. It peaks at around 5–15 years of age and affects the blood vessels, joints, nervous system and subcutaneous tissues. It is characterised as an autoimmune disease, and there is a risk of rheumatic fever occurring after infection in 3% of the population. The recurrence is greater in younger children and increases with each attack. Duckett-Jones criteria:The diagnostic criteria for acute rheumatic fever.Major: – Pancarditis- Chorea (Sydenham’s) – Polyarthritis (flitting)- Erythema marginatum- Subcutaneous nodulesMinor criteria include the presence of arthralgia, fever, prolonged PR interval, raised ESR, raised CRP.Note that:To make the diagnosis of rheumatic fever: Two major and/or one major with two minor criteria are required. Evidence of a recent streptococcal infection with a raised ASO titre or an antiribonuclease B level is sufficient. Exceptions to this rule are mentioned below:- Chorea alone is diagnostic.- Insidious or late-onset carditis with no other explanation.- Rheumatic recurrence: The presence of one major and one minor criterion with a prior streptococcal disease that is recurring.Consequences of pericarditis include heart block, pericardial effusion, tachycardia, cardiomegaly, pericardial friction rub, congestive cardiac failure, valvular disease and a Carey–Coombes apical mid-diastolic rumbling murmur.New heart murmurs are often audible, including those of mitral regurgitation and aortic regurgitation. Skin nodules affect the perivascular tissues and are non-specific lesions resulting from fibroid degeneration.Management:Medication includes aspirin for the acute phase, non-steroidal anti-inflammatory drugs for arthritis, prednisolone for severe carditis, and high-dose penicillin for immediate management with antibiotic prophylaxis in the long term. Antibiotics may include penicillin V, erythromycin or benzylpenicillin. Diazepam and haloperidol may be required to control the chorea.

    • This question is part of the following fields:

      • Cardiovascular
      34.3
      Seconds
  • Question 15 - The mother of 6 months old girl tests positive for HIV. Doctors test...

    Incorrect

    • The mother of 6 months old girl tests positive for HIV. Doctors test her daughter as well and the results turn out to be positive for HIV, both by polymerase chain reaction (PCR) and serology. The girl is clinically healthy and seems to attain normal developmental milestones. Which of the following is the most appropriate next step?

      Your Answer: Start antiretroviral therapy immediately and await the CD4 count and percentage to decide on the need for co-trimoxazole prophylaxis

      Correct Answer: Start co-trimoxazole prophylaxis immediately and plan to start antiretrovirals once further work-up is complete

      Explanation:

      Infants exposed to maternal HIV and with positive results require immediate management with co-trimoxazole prophylaxis, regardless of their CD4 levels. Antiretroviral treatment is necessary as well but it could wait until further work-up is complete.

    • This question is part of the following fields:

      • HIV
      16
      Seconds
  • Question 16 - A 6 year old boy presents with a tibial fracture in a cast...

    Correct

    • A 6 year old boy presents with a tibial fracture in a cast and continuous pain. You suspect a compartment syndrome injury. Which of the following represents a late sign of the condition?

      Your Answer: Absent distal pulses

      Explanation:

      The Five P’s: pain, pulselessness, paraesthesia, paralysis, and pallor, are the most common symptoms of compartment syndrome. However, late signs of the condition include the absence of distal pulses.

    • This question is part of the following fields:

      • Emergency Medicine
      6.5
      Seconds
  • Question 17 - A 6 year old boy with a history of pharyngitis 10 days ago,...

    Correct

    • A 6 year old boy with a history of pharyngitis 10 days ago, presents with periorbital oedema. You perform a urine dipstick test which shows 1+ for protein and 3+ for blood. Family history is clear. What is the most probable diagnosis?

      Your Answer: Glomerulonephritis

      Explanation:

      The child has a history of pharyngitis followed 10 days later by signs of glomerulonephritis. In this particular case, it is most probably a post-streptococcus glomerulonephritis which accounts for 80% of paediatric cases of glomerulonephritis.

    • This question is part of the following fields:

      • Nephro-urology
      4.5
      Seconds
  • Question 18 - Regarding neonatal meningitis, which of the following statements is true? ...

    Incorrect

    • Regarding neonatal meningitis, which of the following statements is true?

      Your Answer: Is a risk factor for later conductive deafness

      Correct Answer: Has an above average incidence in babies with a meningomyelocele

      Explanation:

      The commonest time for bacterial meningitis is in the 1st month of life and group B Streptococcus is the commonest organism. The anterior fontanelle is full, but does not bulge with normal flexion. Neurological manifestations include seizures, irritability, poor tone, lethargy and tremors, however no findings of sensorineural deafness have been noted. One of the risk factors for introduction of meningeal infection is Meningomyelocele.

    • This question is part of the following fields:

      • Infectious Diseases
      14.3
      Seconds
  • Question 19 - Which of the following vaccines do not contain live organisms? ...

    Correct

    • Which of the following vaccines do not contain live organisms?

      Your Answer: Polio (Salk)

      Explanation:

      Live virus vaccines include: Vaccinia (smallpox), Measles, Mumps, Rubella (MMR combined vaccine), Varicella (chickenpox), Influenza (nasal spray), Rotavirus, Zoster (shingles) and Yellow fever. Inactivated vaccines are Polio (IPV), Hepatitis A and Rabies.

    • This question is part of the following fields:

      • Infectious Diseases
      5.1
      Seconds
  • Question 20 - A 16-year-old male presents with complaints of a patch of scaling skin and...

    Incorrect

    • A 16-year-old male presents with complaints of a patch of scaling skin and hair loss on the right side of his head. A skin scraping confirms the diagnosis of tinea capitis. What is the most common organism responsible for tinea capitis?

      Your Answer: Microsporum audouinii

      Correct Answer: Trichophyton tonsurans

      Explanation:

      The most common organism responsible for tinea capitis is Trichophyton tonsurans.Tinea is a term given to dermatophyte fungal infections. There are three types of tinea, depending on what part of the body is infected:- Tinea capitis – scalp- Tinea corporis – trunk, legs or arms- Tinea pedis – feetTinea capitis (scalp ringworm):It is a cause for scarring alopecia mainly seen in children.If untreated, it can form a raised pustular, spongy/boggy mass called a kerion.The most common cause of tinea capitis in the UK and the USA is Trichophyton tonsurans.Tinea can also be caused by Microsporum canis acquired from cats or dogs.The diagnosis of tinea capitis and identification of the organism is possible from the skin lesions:- Scalp scrapings and Potassium hydroxide (KOH) mounts.- Wood’s lamp: Microsporum canis produces a green fluorescence under Wood’s lamp examination.Treatment: – Oral antifungals: terbinafine for Trichophyton tonsurans infections.- Griseofulvin for Microsporum infections. – Topical ketoconazole shampoo is recommended for the first two weeks to limit the transmission of the infection.

    • This question is part of the following fields:

      • Dermatology
      11.6
      Seconds
  • Question 21 - A 5 year old boy visited Ghana with his family and arrived back...

    Incorrect

    • A 5 year old boy visited Ghana with his family and arrived back home 6 weeks ago. 2 days ago he developed neck stiffness, a fever, and vomiting. He did not present with a rash and was treated with malaria prophylaxis. Choose the correct diagnosis from the list of options.

      Your Answer: Cerebral abscess F. Pneumonia

      Correct Answer: Cerebral malaria

      Explanation:

      Due to malaria’s incubation period being between 7 and 30 days, malaria prophylaxis cannot provide a patient with confirmed protection. Prophylaxis treatment also often fails. The symptoms such as neck stiffness, fever, and vomiting are also consistent with the cerebral malaria diagnosis.

    • This question is part of the following fields:

      • Neurology
      7.5
      Seconds
  • Question 22 - Regarding crossover trials, which of the following statements is true? ...

    Incorrect

    • Regarding crossover trials, which of the following statements is true?

      Your Answer: Should be used in preference to parallel trials

      Correct Answer: Are best for assessing the efficacy of different treatments in giving short-term relief of chronic conditions

      Explanation:

      Crossover trials are characterized by the switching of study participants throughout the treatment groups, keeping a random order of switching. This randomization is important to determine any carry-over effect of different treatment modalities. The benefit of this study is the evaluation of the efficacy of various short-term treatment options for the relief of chronic conditions. The washout period is small in this type of study. Crossover studies are more efficient than the parallel studies, but they should be used according to the treatment options and outcomes.

    • This question is part of the following fields:

      • Epidemiology And Statistics
      11.4
      Seconds
  • Question 23 - A 16-month-old infant presented to ER with multiple bruises on his right arm....

    Incorrect

    • A 16-month-old infant presented to ER with multiple bruises on his right arm. According to his mom, he has been unable to move it since yesterday and is crying more than usual. A relative attended the child while his mother was on a night shift. X-ray revealed a fracture of the right humerus, which was put in a cast. What is the next step in this case?

      Your Answer: Follow up in paediatric outpatients

      Correct Answer: Admit under care of paediatrician

      Explanation:

      Certain lesions present on x-ray are suggestive of child abuse including rib, humerus and skull fractures. It is the doctors responsibility to follow up on these cases to determine whether domestic abuse has occurred.

    • This question is part of the following fields:

      • Musculoskeletal
      61.4
      Seconds
  • Question 24 - Choose the standard method for comparing distributions in data sets (such as between...

    Incorrect

    • Choose the standard method for comparing distributions in data sets (such as between the expected frequency of an event and the observed frequency of an event) from the list of options.

      Your Answer: Linear regression

      Correct Answer: Chi squared (X²) test

      Explanation:

      The Chi-squared test evaluates if two variables are related. The other statistical tests mentioned do not perform this function.

    • This question is part of the following fields:

      • Epidemiology And Statistics
      4
      Seconds
  • Question 25 - What form of inheritance does Chédiak–Higashi syndrome have? ...

    Incorrect

    • What form of inheritance does Chédiak–Higashi syndrome have?

      Your Answer: X-linked recessive

      Correct Answer: Autosomal recessive

      Explanation:

      Chédiak–Higashi syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

    • This question is part of the following fields:

      • Genetics And Dysmorphology
      15.9
      Seconds
  • Question 26 - A male term infant was admitted to the neonatal unit on day 4...

    Incorrect

    • A male term infant was admitted to the neonatal unit on day 4 for severe jaundice. The bilirubin at that time was 320 mmol/l, which decreased with phototherapy. At day 30, the baby still required phototherapy to keep the bilirubin below the treatment line. On examination, the skin had a tanned appearance and his sclerae were icteric. Mother’s blood group was A+, the baby's blood group was A+, direct Coombs test (DCT) was negative. What is the MOST likely diagnosis?

      Your Answer: ABO incompatibility

      Correct Answer: Crigler-Najjar syndrome

      Explanation:

      Crigler-Najjar syndrome is a rare genetic disorder characterized by an inability to properly convert and clear bilirubin from the body.The hallmark finding of Crigler-Najjar syndrome is a persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice).There are two forms of this disorder: Crigler-Najjar syndrome type I, characterized by a nearly complete lack of enzyme activity and severe, even life-threatening symptoms| and Crigler-Najjar syndrome type II, characterized by partial enzyme activity and milder symptoms. Both forms are inherited as autosomal recessive traits and are caused by errors or disruptions (mutations) of the UGT1A1 gene.The symptoms of Crigler-Najjar syndrome type I become apparent shortly after birth. Affected infants develop severe, persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice). These symptoms persist after the first three weeks of life.Infants are at risk for developing kernicterus, also known as bilirubin encephalopathy, within the first month of life.Crigler-Najjar syndrome type II is a milder disorder than type I. Affected infants develop jaundice, which increases during times when an infant is sick (concurrent illness), has not eaten for an extended period (prolonged fasting) or is under general anaesthesia. Some people have not been diagnosed until they are adults. Kernicterus is rare in Crigler-Najjar syndrome type II, but can occur especially when an affected individual is sick, not eating or under anaesthesia

    • This question is part of the following fields:

      • Gastroenterology And Hepatology
      35.1
      Seconds
  • Question 27 - A family of five members presents to the genetics clinic for further evaluation....

    Incorrect

    • A family of five members presents to the genetics clinic for further evaluation. The father, one boy and one girl present with a short stature, large heads, short digits, and trident hands. Genetic evaluation reveals they are all heterozygotes for a specific mutation. The rest of the family, the mother and the other daughter, do not carry this mutation. What is the pattern of inheritance?

      Your Answer: Autosomal recessive

      Correct Answer: Autosomal dominant with complete penetrance

      Explanation:

      In this case, the affected individuals are all heterozygotes. Therefore, the mutation is autosomal dominant. Also, the mother does not carry the mutation, further confirming the autosomal dominant nature of the disease, which is most probably achondroplasia.

    • This question is part of the following fields:

      • Genetics And Dysmorphology
      6.2
      Seconds
  • Question 28 - A 16-year-old autistic boy who has had learning difficulties is found to have...

    Incorrect

    • A 16-year-old autistic boy who has had learning difficulties is found to have large testes. Which condition does the child most likely have?

      Your Answer: Abnormal pubertal development

      Correct Answer: Fragile X syndrome

      Explanation:

      Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behaviour such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorder that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty.

    • This question is part of the following fields:

      • Endocrinology
      7.6
      Seconds
  • Question 29 - A 6 year old boy has a family history of familial adenomatous polyposis....

    Correct

    • A 6 year old boy has a family history of familial adenomatous polyposis. What ocular manifestation in this boy would indicate that he has inherited the condition?

      Your Answer: Congenital hypertrophy of the retinal pigment epithelium

      Explanation:

      Congenital hypertrophy of the retinal pigment epithelium is one of FAP’s extra-intestinal manifestations. It appears in early childhood and affects an estimated 90% of those with FAP.

    • This question is part of the following fields:

      • Genetics And Dysmorphology
      10.5
      Seconds
  • Question 30 - Which of the following conditions is NOT a recognized cause of respiratory distress...

    Incorrect

    • Which of the following conditions is NOT a recognized cause of respiratory distress syndrome (SDLD)?

      Your Answer:

      Correct Answer: Maternal hypertension

      Explanation:

      Insufficient surfactant production in premature infants leads to respiratory distress syndrome or surfactant deficient lung disease (SDLD), characterized by structurally immature lungs. There are many risk factors of this disease, some of them include male gender, caesarean section, infants of diabetic mothers, being the second born of the premature twins, perinatal asphyxia, sepsis, and hypothermia. Maternal hypertension is not a recognized risk factor for respiratory distress syndrome| instead, pregnancy-induced hypertension and chronic maternal hypertension are the protective factors against this disease.

    • This question is part of the following fields:

      • Neonatology
      0
      Seconds

SESSION STATS - PERFORMANCE PER SPECIALTY

Child Development (1/1) 100%
Anatomy (0/1) 0%
Paediatric Surgery (3/3) 100%
Dermatology (0/3) 0%
Endocrinology (1/2) 50%
Musculoskeletal (2/2) 100%
Ophthalmology (1/1) 100%
Haematology And Oncology (1/1) 100%
Nephro-urology (1/2) 50%
Emergency Medicine (1/2) 50%
Cardiovascular (1/1) 100%
HIV (0/1) 0%
Infectious Diseases (1/2) 50%
Epidemiology And Statistics (1/2) 50%
Genetics And Dysmorphology (2/3) 67%
Gastroenterology And Hepatology (0/1) 0%
Neonatology (0/1) 0%
Passmed