Case-based MCQ

Case-based MCQ | #MCQ_106 •••••••••••••••••••••••••••••••••••••• Correct Answer Is B This clinical picture is suggestive of Noonan syndrome. This is an autosomal dominant disorder with mutation of chromosome 11. It has been described as the male Turner's syndrome, but affects both sexes. Clinical features of the syndrome include the following: Facial/eye features Triangular face Hypertelorism (increased distance between the eyes) Down-slanting eyes Ptosis Strabismus – seen in 48% Amblyopia – seen in 33% Refractive errors – seen in 61% Low-set ears with thickened helices High nasal bridge Short webbed neck Chest/back features Pectus carinatum/excavatum Scoliosis Cardiac features Stenotic/dysplastic pulmonic valve is the characteristic cardiac anomaly Hypertrophic cardiomyopathy (obstructive and non-obstructive) – seen in as many as 30% Virtually all types of congenital heart defects have been described in patients with Noonan syndrome Abdominal features Hepatosplenomegaly unrelated to cardiac disease – seen in 25% of the patients Genitourinary features Renal anomalies are present in 10% of patients but are not clinically significant More than half of male patients have undescended testes Skeletal features Joint laxity is present – seen in more than 50% of the patients Less common findings include talipes equinovarus (club foot) that is an excessively turned-in foot and high medial longitudinal arc, radioulnar synostosis (fusion), cervical spine fusion, and joint contractures. Skin findings Lymphedema Prominent pads of fingers and toes – seen in 67% Follicular keratosis of face and extensor surfaces – seen in 14% Multiple lentigines (a lentigo is a small, sharply circumscribed, pigmented macule surrounded by normal-appearing skin) – seen in 3% Neurological findings Hypotonia Seizure disorders – seen in 13% Unexplained peripheral neuropathy – not seen frequently Mental retardation Previously, patients with Noonan syndrome were thought to have a form of Turner syndrome, as clinical picture is similar to that of Turner’s. Myopia and ectopic ocular lens is consistent with Marfan syndrome and not are features seen in Noonan syndrome

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Case-based MCQ | #MCQ_105 •••••••••••••••••••••••••••••••••••••• A 2-year-old boy is brought to your clinic due to a 3-day history of fever with occasional cough and coryza. On clinical history, viral upper respiratory tract infection is suspected. On physical examination, the patient is noted to have down-slanting of palpebral fissures, eyes that are apart more than usual and low-set ears. The height of the patient is smaller than the standard. Which one of the following is not consistent with this condition? A. Pulmonary valve stenosis. B. Myopia and ectopic ocular lens. C. An autosomal disorder involving mutation in chromosome 11. D. Webbed neck. E. Abnormalities in cardiac conduction and rhythm

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🫀Cardiology Cases | #case87 Correct Answer Is C The ECG shows wide-QRS complex tachycardia (WCT) at a rate of approximately 300 bmp. Most WCTs in children are in fact supraventricular tachycardias (SVT) with aberrancy. Compared to SVT with aberrancy, ventricular tachycardia (VT) is rare in children; however, due to seriousness of the condition, Australian Advanced Paediatric Life Support (APLS) and Royal Children Hospital (RCH) guidelines recommend that WCTs are considered and treated as VT until proven otherwise. This approach is different from recommendations by American Heart Association (AHA) that advise to treat WCTs in a hemodynamically stable children as SVT first by a trial of intravenous adenosine (option B) before making a diagnosis of VT. APLS recommends intravenous amiodarone under close monitoring for treatment of symptomatic VT in children with stable hemodynamics, and synchronized DC cardioversion (option D) in those with hemodynamic instability/ shock if there is pulse and defibrillation in the absence of a pulse. This child is hemodynamically stable; therefore, intravenous amiodarone will be the next best step in management. Vagal maneuvers such as immersion of the face in cold water (option A), application of ice pack to the face or Valsalva maneuvers are initial treatment for patients with narrow-QRS complex tachycardia i.e., SVT. Vagal maneuvers suppress the AV node and might worsen the condition in VT. Intravenous beta blockers such as esmolol (option E) are not generally recommended for treatment of VT or SVT in children

🫀Cardiology Cases | #case87 Correct Answer Is C The ECG shows wide-QRS complex tachycardia (WCT) at a rate of approximately 300 bmp. Most WCTs in children are in fact supraventricular tachycardias (SVT) with aberrancy. Compared to SVT with aberrancy, ventricular tachycardia (VT) is rare in children; however, due to seriousness of the condition, Australian Advanced Paediatric Life Support (APLS) and Royal Children Hospital (RCH) guidelines recommend that WCTs are considered and treated as VT until proven otherwise. This approach is different from recommendations by American Heart Association (AHA) that advise to treat WCTs in a hemodynamically stable children as SVT first by a trial of intravenous adenosine (option B) before making a diagnosis of VT. APLS recommends intravenous amiodarone under close monitoring for treatment of symptomatic VT in children with stable hemodynamics, and synchronized DC cardioversion (option D) in those with hemodynamic instability/ shock if there is pulse and defibrillation in the absence of a pulse. This child is hemodynamically stable; therefore, intravenous amiodarone will be the next best step in management. Vagal maneuvers such as immersion of the face in cold water (option A), application of ice pack to the face or Valsalva maneuvers are initial treatment for patients with narrow-QRS complex tachycardia i.e., SVT. Vagal maneuvers suppress the AV node and might worsen the condition in VT. Intravenous beta blockers such as esmolol (option E) are not generally recommended for treatment of VT or SVT in children

Case-based MCQ | #MCQ_105 •••••••••••••••••••••••••••••••••••••• Concerned parents of a 5-year-old boy have brough him to the Emergency department because he has been having palpitations and dizziness since this morning. He is otherwise healthy with no significant medical history, and this is the first time he is experiencing it. An ECG as well as blood tests are arranged. On examination, he has a weak thready pulse which is so rapid that cannot be counted correctly. His blood pressure is 98/60 mmHg. He seems restless but does not seem to be breathless. Extremities are of normal temperature and color. A 12-lead ECG is obtained and is shown in the following photograph. Which one of the following is the most appropriate next step in management of him? A. Immersion of face in cold water. B. Intravenous adenosine. C. Intravenous amiodarone. D. Synchronized cardioversion. E. Intravenous esmolol

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Case-based MCQ | #MCQ_104 •••••••••••••••••••••••••••••••••••••• Explanation: ✔ Correct Answer Is B The scenario describes a baby who has developed dehydration (decreased urine output) as a result of vomiting in the background of UTI. This child needs rehydration as the most appropriate initial management. Dehydration is an indication for hospital admission and fluid resuscitation. Antibiotics should also be started for treatment of UTI. In the following conditions, ultrasound scan of the kidney, ureter and bladder is always indicated: Concurrent bacteremia Atypical UTI organisms: i.e., Staphylococcus aureus, Pseudomonas UTI <3 years old No/inadequate response to 48 hrs of IV antibiotics Abdominal mass Abnormal voiding (e.g., dribbling) Recurrent UTI First febrile UTI and no prompt follow up assured Renal impairment Significant electrolyte derangement No antenatal renal tract imaging in second to third trimester Since this child is younger than 12 months age, he needs an ulrasound as well. It is best to perform the ultrasound within the first 3 days of presentation. If the child is younger than 1 year, either ultrasound or micturating cystoureterogram or both can be used to exclude vesicoureteric reflux (VUR). If the child is older than 1 year, ultrasound is adequate. Early detection of VUR and control of recurrent urinary tract infections could prevent the development of reflux nephropathy and its complications including hypertension and chronic renal failure. NOTE – According to RCH guidelines, ultrasonography is indicated in the following situation (different from international guidelines and even National Guidelines by the Therapeutic Guidelines or RACGP): Children with atypical UTI, those not responding to treatment within 48 hours, and boys <3 months of age should have a renal ultrasound to exclude renal obstruction. Children <6 months should have a renal ultrasound within 6 weeks of diagnosis. It should be performed during the illness if the UTI is atypical or not responding to antibiotics within 48 hours. Older children do not require an ultrasound after the first UTI, but should have a renal ultrasound for recurrent UTI.

A mother brings her 10-month old boy to the Emergency Department with fever, nausea and vomiting. She mentions that she has used fewer nappies in the past 48 hours because he has been less wet. She also mentions that his urine has an offensive odor. A urine analysis is perfomed that is positive for nitrite and leukocytes consistent with urinary tract infection (UTI). This child has never had an UTI before. Which one of the following is the next best step in management?  A. Antibiotics and ultrasound of kidneys, ureter and bladder. B. Antibiotics, intravenous fluids and ultrasound scan of the kidneys, ureter and bladder. C. Antibiotics, oral fluids and discharge home once the child improves. D. Refer to a pediatrician. E. Antibiotics.

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