Pediatrie 2018 Basic

You are seeing a new patient who is 11years old and has Duchenne muscular dystrophy. His uncle died of the disorder 2 years ago. His mother asks to see you privately and tells you that her son does not know his diagnosis; she asks that you refer to his "walking problem." On physical examination, you note that the boy is in a wheelchair and is unable stand without support. You ask to speak with the mother after evaluating the boy. Of the following, you are MOST likely to tell her that

A 5-year-old girl presents after having a brief generalized seizure. Her mother reports that the child has had a 3-day history of fever, tenesmus , and bloody diarrhea. On physical examination, you find a mildly toxic-appearing child who has a temperature of 104°F (40°C) and diffuse abdominal tenderness. The rectal examination produces significant pain. Stool from her rectum is guaiac-positive. Yon tell her mother that you believe the diarrhea has an infectious cause. Of the following, the MOST likely pathogen is

A 3-month-old boy is admitted to the hospital for evaluation of failure to thrive. His birthweight was at the 50th percentile and length at the 75th percentile. Currently, his weight is below the 5th percentile and length is at the 25th percentile. His vital signs and physical examination results are otherwise normal. He appears well hydrated. Measurement of serum electrolytes reveals: sodium, 139 mEq/L (139 mmol/L); potassium, 4.7 mEq/L (4.7 mmol/L); chloride, 114 mEq!L (114 mmol!L); bicarbonate 12 mEq/L (12 mmol!L); blood urea nitrogen, 8 mg/dL (2.9 mmol/L); and creatinine, 0.3 mg/dL (26.5 mcmol!L). A consulting nephrologist recommends measurement of urine pH (which is 7.5) and urine ammonium (which is 12,000 mcMIL) (normal, >60,000 mcM!L). Of the following, the MOST likely cause of this child's acidosis is

Yon are asked to evaluate two children, ages 3 and 9 years, on the pediatric hematologyoncology inpatient unit who have developed fever, cough, increased work of breathing, and nodular lesions on their chest radiographs. The children are isolated in private rooms and have different nurses and doctors caring for them. The children's rooms are located adjacent to an area where a new playroom is being constructed. Of the following, the MOST likely pathogen causing these patients' pneumonia is

A 15-year-old boy presents with melena and anemia. Endoscopy demonstrates a nodular gastritis of the antrum and an ulcer. Biopsies of the antrum demonstrate spiralshaped organisms consistent with Helicobacter pylori. Yon prescribe amoxicillin, clarithromycin , and lansoprazole for 2 weeks. At a follow-up visit, the family asks whether the treatment has been successful in eradicating the organism. Of the following, the PREFERRED noninvasive test to evaluate whether the pathogen has been eradicated is

A term newborn is delivered by emergent cesarean section because of intrauterine growth restriction, oligohydramnios, and nonreassuring fetal heart rate monitoring in labor. Delivery room resuscitation includes endotracheal intubation and assisted ventilation with 100o/o oxygen, chest compression s, intravenous epinephrine, and volume expansion. Apgar scores are 1, 2, and 3 at 1, 5, and 10 minutes, respectively. An umbilical cord arterial blood gas measurement documents a pH of 6.9 and a base deficit of 20 mmoVL. At 12 hours of age, the infant demonstrates tonic-clonic convulsive activity of the arms and legs with a concomitant decrease in heart rate and bedside pulse oximetry saturation. Of the following, the MOST likely cause for this infant's seizure is:

You are precepting a resident who has just evaluated a 4-year-old incompletely immunized immigrant boy who has classic varicella lesions and a history that is consistent with this diagnosis. Of the following, the MOST accurate statement is that

The parents of a child who has Down syndrome and a 47,XX+21 karyotype come to you for counseling about future pregnancies. Of the following, their risk for giving birth to another child who has trisomy is CLOSEST to:

A 15-month-old infant has been breastfed since birth. He eats finger foods (eg, peas, carrots) and occasionally some cereal. His mother adheres to a vegan diet and plans the same for her child. A complete blood count documents anemia. Of the following, the MOST likely cause of this infant's anemia is a deficiency of:

A 15-year-old boy comes to your office for a health supervision visit. He expresses concern that he is only 5 ft, 2 in tall and is not competitive in track. On physical examination , he appears healthy, has a height of 62 in, and weighs 96 lb. His testes are 8 mL in volume bilaterally, there is slight pubertal phallic enlargement, and he has Sexual Maturity Rating 3 pubic hair. He has a small amount of subareolar breast tissue. His last health supervision visit was 2 years ago. He did not have pubic hair at the last visit, and his testes were described as ''prepubertal'' in size. Of the following, the MOST likely cause of his short stature is

You are examining a 2-year-old girl who has a 6-month history of developmental regression. During her first postnatal year, she met all motor, language, and social milestones. Her head circumference, which currently is at the 3rd percentile, was at the 75th percentile at birth. On physical examination , she makes poor eye contact and repetitively wrings her hands. Of the following, the MOST appropriate diagnostic test is:

You are conducting rounds in the newborn nursery with a group of residents. You describe the choices for infant nutrition that might optimize growth and development. Of the following, you are MOST likely to state that:

A 3-year-old child who has a history of recurrent otitis media with effusion (OME) in infancy is brought to the clinic. His mother is afraid that he has a hearing loss because he does not talk as much as his brother did at the same age. He speaks in three-word sentences, and you can understand fewer than 50% of his words. Results of his physical examination, including the ears, are normal. Of the following, the MOST appropriate statement regarding this child's condition is that:

You are asked to see a term infant in the newborn nursery at 8 hours of age and consider her transfer to the neonatal intensive care unit. The problems and fmdings reported to you include: poor feeding, emesis, temperature instability (core temperature of 96°F [35.5°C]), hypoglycemia (whole blood glucose concentration of 25 mg/dL [1.4 mmoi/L]), and polycythemia (hematocrit of 70o/o [0.70]). Of the following, the physical finding that is MOST likely to accompany these problems is

A normal-appearing 9-month-old boy is discovered on routine herniorrhaphy to have bilateral Fallopian tubes and a rudimentary uterus. Biopsy of the gonads performed during this procedure revealed normal testicular tissue. On examination today, his phallus is normal in size and appearance, and his descended testes are both 2 mL in volume. Of the following, the MOST likely sex chromosome complement for this child is

An 8-year-old boy has difficulty with reading; he reads slowly and makes many mistakes. He has a history of a febrile seizure at 1year of age and a fall at age 2 years that resulted in a brief loss of consciousness. His mother read an article about interventions for improving vision function in children who have reading difficulties and would like your opinion. Findings on his physical examination are normal, except for vision of 20/40 bilaterally. Of the following, your BEST response is that you would like to

The mother of a child who is infected with human immunodeficiency virus (HIV) would like to enroll her child in a local child care center. Of the following, the circumstance that is MOST likely to exclude the child who has HIV infection from attending a child care center is

You see an 8-year-old boy in accident and emergency who fell off his bike 3 days ago and scraped his left calf. The cuts are now angry, red and painful. You note he is a big boy and plot his growth: his weight is on the 99th centile and height is on the 75th centile. You note mild gynaecomastia and stretch marks on his abdomen which are normal skin colour. His past medical history is unremarkable except for mild asthma. What is the most likely cause of his large size?

A 16-year-old boy is brought to the GP by his parents. They are concerned he is the shortest boy in his class. He is otherwise well. His height and weight are on the 9th centile. His father plots on the 75th centile and his mother on the 50th centile for adult height. On examination, his testicular volume is 8 mL, he has some fine pubic and axillary hair. The rest of the physical examination is normal. On further questioning you elicit from his father that he was a late bloomer and did not reach his full height until he was at university. What is the most likely cause of the boy's short stature?

An 8 year old known asthmatic is brought into accident and emergency by ambulance as a 'blue call'. He has been unwell with an upper respiratory tract infection for the past 2 days. For the past 24 hours his parents have given him 10 puffs of salbutamol every 4 hours, his last dose being 90 minutes ago. The ambulance staff have given him a nebulizer but he remains agitated with a heart rate of 155, respiratory rate of 44 and sub/intercostal recessions and on auscultation there is little air movement heard bilaterally. Saturations in air are 85 per cent. He is started on 'back to back' nebulizers with high flow oxygen. How severe is his asthma exacerbation and what other bedside test would support this?

A 6-year-old boy with a history of anaphylaxis to peanuts is brought in by ambulance unconscious. He was attending a children's birthday party. His mother says there was a bowl full of candy and he may have eaten a Snickers bar but she is not sure and she did not have his EpiPen with her. His face and lips are swollen and erythematous, he is still breathing but weakly and there is wheeze. His pulse is tachycardic and thready. Which type of shock is this?

A newborn baby is born to non-consanguineous parents. She is noted to have puffy feet on her 1st day check. She weighs 2.0 kg with widely spaced nipples and absent femoral pulses. You have asked your registrar to review her as you think she may have Turner 's syndrome. She agrees and asks you to send blood tests for karyotyping. Which is the chromosomal diagnosis of Turner 's syndrome?

A baby is born and you are asked to do the baby check at 6 hours post-natal age. You go to see the baby and mum states that he has not yet had a feed. You advise they stay in hospital until the feeding is established. This is the first child of non-consanguineous parents. On day 4 when you review the baby he has still not had an adequate intake, has lost over 10 per cent in birth weight and is markedly hypotonic. Your consultant asks you to request genetic testing for Prader-Will syndrome. What is the inheritance of Prader-Willi syndrome?

A 5-day-old baby who is formula fed is on the neonatal unit being treated for sepsis secondary to an Escherichia coli urinary tract infection. He has been on antibiotics for 5 days. He is still unwell and vomiting. The parents are consanguineous and this is their first child. He has had repeat blood and urine cultures taken. Urine reducing substances are positive. What is the most likely underlying diagnosis?

A 10-year-old boy is brought to the GP with tall stature. He is taller than his peers at school. His arm span is greater than his height, he has long, thin fmgers, scoliosis and pectus excavatum. He is also concerned that he gets short of breath at school during PE lessons. You refer him for an echocardiogram and chest x-ray. You make a clinical diagnosis ofMarfan's syndrome. What is the inheritance of Marfan 's syndrome?

A 1-day-old baby is on the post-natal ward. You are asked to review her as she is febrile and lethargic. On examination she is tachycardic, has a capillary refill time of 3 seconds centrally and reduced urine output. Her blood culture 24 hours later grows Gram-positive cocci. Which is the most likely causative organism?

A preterm baby is born at 25 + 6 weeks gestation. He is delivered by caesarean section due to maternal pre-eclampsia. He is intubated at birth and given surfactant via the endotracheal tube. He is ventilated and commenced on IV dextrose. After 4 hours of age he has increased work of breathing, with intercostal and subcostal recession and a respiratory rate of 60/min. A chest x­ ray shows a ground glass pattern in both lung fields. He has no audible murmur. He is afebrile. You diagnose respiratory distress syndrome. What is the aetiological factor responsible for respiratory distress syndrome?

A 5-year-old girl was admitted to the ward after she presented to her local accident and emergency with diarrhoea. She was passing 7-8 loose, watery stools per day for the last 4 days and had been vomiting for 1day prior to this. There was blood in the stools and this had worried her mother. You ask about foreign travel and her mother reveals they had been in India until 2 weeks ago, staying with family and drinking tap water. She had no vaccines prior to travelling. On examination, she now has abdominal pain, swinging pyrexias, right upper quadrant tenderness but no rebound or guarding. You notice a pale pink (rose) spot on her trunk. What is the most likely infecting organism?

A 3-month-old baby is brought to accident and emergency because he has been vomiting and having diarrhoea for the past month. His mother breastfed him until he was 8 weeks old and he is now taking formula milk, 4-5 oz every 4 hours. On examination he is alert but fussy and looks thin. He has eczema on his face, neck and torso and the mother says this is new. The abdomen is soft, the genitalia are normal with a significant nappy rash and the anal margin is erythematous. You plot his growth in his red book and find that he was born on the 50th centile and was following that but now he is on the 25th centile for weight. What is the most likely diagnosis?

A 15-year-old Asian girl with Down's syndrome came to accident and emergency with a prolonged fever. She has severe learning difficulties and was difficult to assess. Her parents think she is more unsettled than usual and not eating and drinking properly for the last 3 weeks. She is admitted as you cannot confidently find the source of the infection, but she bas no cough, rash, vomiting, diarrhoea or meningism. The next day she complains of a headache and starts to vomit. She bas a CT scan which is normal and then a lumbar puncture (LP). White cell count (WCC) 150 x109/L (20 per cent neutrophils), red blood count 0, protein 2 g/L, glucose 1.2 mmol/L (serum glucose 6.0 mmol/L). What is the most likely cause of this meningitis?

A couple are referred to a geneticist as they are planning on having their first child. There is a history of Wiskott-Aldrich syndrome on the woman's side. The woman's father and great grandfather have the condition (eczema, thrombocytopenia, recurrent infection) but she is unaffected. There is no history of the condition in the man 's family. What is the risk of having the condition if the child is a boy or a girl respectively?

A 4-year-old boy with severe ezcema is brought to accident and emergency by his mother. His skin has been worse recently since the weather has become colder. He is scratching a lot more and now is very miserable and has a temperature of 38.6°C today.On examination of his skin he has multiple areas of erythematous , excoriated lesions on his elbow and knee flexures as well as his trunk and back. In addition they are hot, tender and slightly swollen with areas of broken skin. There are also some yellow fluid-filled vesicles on some of these lesions. You send some blood tests and commence him on IV flucloxacillin and aciclovir. Which are the two most likely organisms that can complicate eczema?

A 3-year-old boy has been admitted to hospital with a right-sided pneumonia and pleural effusion. The pleural fluid grew Gram-positive cocci. He is on IV ceftriaxone, oral azithromycin and has a chest drain in situ. On further questioning of Richard's mother, you establish that he has had multiple chest infections since he was born (in the UK). He has been admitted three times before and also had a sinus wash out following an episode of sinusitis. He has no cardiac anomalies or dysmorphism. His mother also tells you about his older brother , who sadly died of meningitis aged 6 years old. He too had 'more than his fair share of infections'. The two brothers had different fathers but his mother is IDV negative. What is the most likely underlying immunodeficiency in this family?

You are in immunology clinic and the first patient is a 2-year-old boy who has a complement deficiency. You know this involves a cascade of proteins involved with innate immunity but are unsure about the manifestations in children. The professor of immunology asks you which organism is this child at risk of being infected with. He gives you a clue by telling you the child has a late complement deficiency, meaning C5-C9. What is the most likely causative organism that infects these children?

A 3-year-old boy is admitted to the children 's ward. He has been isolated in a cubicle as he is at risk of infections. He is awaiting a bone marrow transplant and has a brother with the same condition. His mother tells you they both have SCID. What are the likely immune function test results in SCID?

A 3-week-old baby attends accident and emergency with bloody diarrhoea. Mum says he has been having diarrhoea for the past 2 days since she started using formula milk. He was previously breastfed and mum was not having any dairy products due to lactose intolerance. He also has eczema on his cheeks and a strong family history or asthma and eczema. Mum is concerned that he may be allergic to milk too. What is the most likely diagnosis?

A 2-year-old child is brought to cardiology clinic due to a heart murmur heard by the GP after an examination when she was recently unwell. She was born at 40 weeks by normal vaginal delivery but was noted to have a cleft palate at birth. She was kept in hospital for establishment of feeding but during this time she had a seizure, noted later to be because her calcium was low. You bear a harsh, grade 3/6 pansystolic murmur , loudest at the left lower sternal edge, consistent with a ventral septal defect (VSD) as seen on echocardiogram. With this history and current examination finding, you wish to exclude DiGeorge's syndrome. What is the best diagnostic test?

A 15-year-old boy attends his GP with a week of cough productive of yellow sputum, fever to 39°C and chest pain on the right side of the chest on coughing. There is no history of foreign travel or unwell contacts. On examination there is reduced air entry in the right lower zone with crepitations and bronchial breathing. You diagnose a right-sided chest infection. What is the most likely causative organism?

A 2-year-old boy is admitted to the paediatric ward with a swollen, painful left knee. He has been afebrile and has a history of minor trauma to his knee earlier today. His mother is a haemophilia carrier and his father is not affected. You are keen to rule out haemophilia in this child. Which two clotting factors should you test for?