Day 11 Flashcards
A 1-week-old infant is referred following episodes of vomiting, feeding intolerance , and abdominal distension.
Examination reveals watery stools with specks of blood present within the nappy.
An abdominal X-ray is requested which reveals gas cysts in the bowel wall.
What is the most likely diagnosis?
The correct answer is necrotizing enterocolitis due to the symptoms and the abdominal x-ray revealing gas cysts in the bowel wall.
Even though Intussusception presents with vomiting and abdominal distention, red currant jelly stools are often used to describe the nature of rectal bleeding. The condition is unlikely at 1 week and more common between 3-12 months. An abdominal x-ray would reveal intestinal obstruction rather than gas cysts. Intestinal malrotation often presents with bilious vomiting rather than just normal vomiting, and blood stained diarrhoea. Hirschsprung’s is usually noticed in the first 24-48 hours when meconium fails to pass. Vomiting and passage of liquid stools (not diarrhoea) are present however blood stained diarrhoea is not seen. An x-ray would reveal an air-fluid level. Bowel perforation would show as air underneath the diaphragms on an abdominal x-ray (pneumoperitoneum)
A newborn baby boy presents with mild abdominal distension and failure to pass meconium after 24 hours.
X- Ray reveals dilated loops of bowel with fluid levels. The anus appears normally located.
What is the diagnosis?
Hirschsprungs disease
Hirschsprung’s disease is an absence of ganglion cells in the neural plexus of the intestinal wall.
It is more common in boys than girls. The delayed passage of meconium together with distension of abdomen is the usual clinical presentation.
A plain abdominal x ray will demonstrate dilated loops of bowel with fluid levels and a barium enema can be helpful when it demonstrates a cone with dilated ganglionic proximal colon and the distal aganglionic bowel failing to distend.
A premature infant (30-week gestation) presents with distended and tense abdomen. She is passing blood and mucus per rectum, and she is also manifesting signs of sepsis.
What is the diagnosis?
Necrotising enterocolitis
Necrotising enterocolitis is more common in premature infants. Mesenteric ischemia causes bacterial invasion of the mucosa leading to sepsis. Terminal ileum, caecum and the distal colon are commonly affected. The abdomen is distended and tense, and the infant passes blood and mucus per rectum. X -Ray of the abdomen shows distended loops of intestine and gas bubbles may be seen in the bowel wall.
A newborn baby boy presents with gross abdominal distension. He is diagnosed with cystic fibrosis and his abdominal x ray shows distended coils of small bowel, but no fluid levels.
What is the diagnosis?
Meconium ileus
One in 15,000 newborns will have a distal small bowel obstruction secondary to abnormal bulky and viscid meconium. Ninety percent of these infants will have cystic fibrosis and the abnormal meconium is the result of deficient intestinal secretions. This condition presents during the first days of life with gross abdominal distension and bilious vomiting. x Ray of the abdomen shows distended coils of bowel and typical mottled ground glass appearance. Fluid levels are scarce as the meconium is viscid.
A 15-year-old female visits her GP because she is feeling increasingly tired and losing weight. She has also been urinating more frequently and feeling extremely thirsty. Random plasma glucose is found to be 15 mmol/litre.
The patient has an underlying condition diagnosed from childhood, which has caused the development of these symptoms.
What is most likely to be the underlying condition?
Cystic fibrosis can cause diabetes mellitus
This presentation is a classic description of the onset of diabetes in a young person, and is confirmed by the random blood glucose >11mmol/L.
Cystic fibrosis presents in childhood with respiratory symptoms, but as the disease progresses, further features begin to develop. If the pancreas becomes affected, then diabetes mellitus can develop.
A paediatrician reviews a neonate with their mother on the ward round.
The neonate is 19-hours-old and there are currently no concerns.
Whilst on the ward round, the mother expresses concern with the child’s hearing, as her mother was deaf.
She worries that her child will also have issues hearing.
What screening tool is most appropriate to consider for this patient?
Otoacoustic emission test is used to screen newborns for hearing problems
The otoacoustic emission test is one used is new-born screening. It is routine in the UK and if a newborn fails this test, they are then referred to have impedance audiometry testing. This is routine for all newborns.
What is the first line hearing test for for newborns?
If the newborn fails this test, what next?
The otoacoustic emission test is one used is new-born screening. It is routine in the UK and if a newborn fails this test, they are then referred to have impedance audiometry testing. This is routine for all newborns.
Impedance audiometry testing is only carried out if someone failed the otoacoustic emission test.
A 15-year-old girl presents to her GP with a 2-month history of bilateral knee pain, felt worst in the mornings. She has also been experiencing general fatigue but has had no fevers, weight loss, or rashes.
Her family history is notable only for her mother who has systemic lupus erythematosus (SLE).
On examination, her vital signs are normal. There is mild knee and ankle oedema bilaterally and tenderness on passive movement of the knee joints.
What is the most likely diagnosis?
Pauciarticular JIA is the most common presentation type and is typically mild
Oligoarticular (or pauciarticular) juvenile idiopathic arthritis (JIA) is the most common presentation of JIA and is defined as affecting up to four joints.
Typically this involves larger joints such as the knee, ankle or elbows.
Common symptoms include pain or stiffness in the affected joints and fatigue.
Associated symptoms may include rash, fever, dry or gritty eyes.
Family history for autoimmune disease (systemic lupus erythematosus in this case) is a risk factor for JIA.
Pauciarticular (paw-see-are-tick-you-lar) means that 4 or fewer joints are affected
What is Osgood-Schlatter disease?
(4)
Osgood-Schlatter disease is an inflammation of the growth plate (apophysitis) at the tibial tubercle secondary to traction from the quadriceps.
It typically occurs in the rapidly-growing adolescent who is involved in sports/athletics.
It can involve both tibia, although the presentation is typically unilateral.
Worse on exercise and not associated with knee effusions.
You are an FY1 on the paediatric ward round with your consultant. Whilst seeing a child that has been admitted with croup, the consultant you’re with decides to quiz you on the pathophysiology.
‘What is the most likely organism to cause croup?’
Parainfluenza virus accounts for the majority of cases of croup
Match the disease to the organism
- *Parainfluenza** virus :
- *RSV** :
- *Pseudomonas** aeruginosa :
- *Streptococcus** pneumoniae :
- *Bordetella** pertussis :
Match the disease to the organism
- *Parainfluenza** virus : Croup
- *RSV** : Bronchiolitis
- *Pseudomonas** aeruginosa : pseudomonas
- *Streptococcus** pneumoniae : Pneumonia
- *Bordetella** pertussis : Whooping cough
You are asked to see a baby on the post-natal ward 10 hours post vaginal delivery.
The midwife informs you that the mother was positive for group B streptococcus.
On examination you note a yellow discolouration to the skin.
What is the next most appropriate action to take?
As this baby is less than 24 hours old they are high risk for developing severe hyperbilirubinaemia and must have their serum bilirubin urgently (within 2 hours).
As this baby is less than 24 hours old the use of a transcutaneous bilirubinometer is inappropriate.
Phototherapy is a treatment option for jaundice, but a serum bilirubin should be measured in case it is beyond the threshold for exchange transfusion.
A baby is delivered on the ward and on the neonatal examination a systolic heart murmur is heard.
An echocardiogram shows right atrial hypertrophy and the septal and posterior leaflet of the tricuspid valve attached to the right ventricle.
What is this condition most commonly known as?
The correct answer is Ebstein’s anomaly which is a congenital condition where the tricuspid valve leaflets are attached to the walls and septum of the right ventricle.
This may lead to tricuspid regurgitation and in 50% of patients Wolff-Parkinson-White syndrome is seen, which is a pre-excitation syndrome caused by an accessory electrical pathway between the atria and the ventricles which may lead to an irregular heart rate.
A risk factor for developing Ebstein’s anomaly is the mother taking lithium during the first trimester of pregnancy.
The mother of a 4-year-old boy comes to surgery as she is concerned he is still wetting the bed at night. This is in contrast to his older brother who was dry at night by the age of 3 years. She is wondering if there is any treatment you can offer. What is the most appropriate management?
Children under the age of 5 years who have nocturnal enuresis can be managed with reassurance and advice - no alarm
A 6-year-old boy is reviewed in clinic due to nocturnal enuresis. His mother has tried using a star-chart but unfortunately this has not resulted in any significant improvement. Of the following options, what is the most appropriate initial management strategy?
An enuresis alarm is generally used first-line for nocturnal enuresis if general advice has not helped if the child is older than 5 years.
A 14-month-old girl is diagnosed as having roseola infantum. What is the most common complication of this disease?
Roseola infantum - febrile convulsions occur in around 10-15%
Maisy a 2-year-old girl and her mother attend a paediatric neurology clinic. Maisy’s mother is concerned she has epilepsy but is reassured by the consultant who explains that Maisy has been having reflex anoxic seizures.
Which of the following features may differentiate between epilepsy and Maisy’s diagnosis?
Reflex anoxic seizures have a rapid recovery unlike epileptic seizures
Collapse, jerking, stiffness and cyanosis can all occur in both epilepsy and reflex anoxic seizures. Reflex anoxic seizures typically have a quick recovery, where as epileptic seizures typically have a prolonged recovery.
What are reflex anoxic seizures?
(3)
Reflex anoxic seizure describes a syncopal episode (or presyncope) that occurs in response to pain or emotional stimuli.
It is thought to be caused by neurally-mediated transient asystole in children with very sensitive vagal cardiac reflexes.
It typically occurs in young children aged 6 months to 3 years
Reflex anoxic seizures typical features (4)
child goes very pale
falls to floor
secondary anoxic seizures are common
rapid recovery
A 2-year-old boy attends the paediatric emergency department, brought in by his mother.
For the last 6 hours he has been very upset. Every 20 minutes he seems to scream out, and his mother thinks he is in pain. He has vomited twice over the same period, and his mother noticed a red jelly-like substance in his nappy 2 hours ago.
The young boy is extremely resistant to examination, and will not let anybody touch his abdomen. His observations reveal a mild tachycardia, but there is no fever.
What is the most appropriate investigation to clarify the diagnosis?
Ultrasound is the investigation of choice for intussusception
A 23-year-old woman with cystic fibrosis attends a review with her respiratory specialist. She has been having much more frequent infections and is wondering if there is anything else that she can do to ensure she reduces her risks of getting any more chest infections.
What is the most appropriate response?
Patients with cystic fibrosis should minimise contact with each other due to the risk of cross-infection
You are called to assist in the resuscitation of a neonate who has just been born at 38 +6 weeks but is showing signs of respiratory distress. On auscultation of the precordium you note the heart sounds are absent on the left hand side but can hear tinkling sounds. The infant is also cyanosed.
What is the best initial management?
What is the diagnosis?
Evidence of bowel sounds in a respiratory exam of a neonate in respiratory distress should make you consider a diaphragmatic hernia
A 14-year-old boy presents to the emergency department with a headache. On further questioning, he complains that the lights are hurting his eyes and on examination, the doctor notices a purpuric rash on his chest. He has a respiratory rate of 22/min, a heart rate of 140/min and a blood pressure of 80/60 mmHg
Which of the following tests should not be ordered in this patient?
Meningococcal septicaemia is a contraindication to a lumbar puncture
This patient has presented with clear symptoms and signs of meningitis while his observations show that he is also septic. One of the contraindications of a lumbar puncture is meningococcal septicaemia
Raised ICP places patients at a dramatically increased risk for herniation if an LP is performed.
A 7-year-old boy presents to the GP as he does not seem to be developing in the same way as his classmates.
He is now a lot taller than most of his friends and he has started to develop hair around his genitalia and armpits.
On examination, his penis is also large for his age however his testes remain prepubertal, with a size of 2.4cm.
Which of the following is the most likely cause of this boy’s precocious puberty?
Small testes in precocious puberty indicate an adrenal cause of the symptoms
Testes
- bilateral enlargement = gonadotrophin release from intracranial lesion
- unilateral enlargement = gonadal tumour
- small testes = adrenal cause (tumour or adrenal hyperplasia)
A 10-year-old boy presents with symptoms of right knee pain. The pain has been present on most occasions for the past three months and the pain typically lasts for several hours at a time. On examination; he walks with an antalgic gait and has apparent right leg shortening. What is the most likely diagnosis?
Perthes Disease
Perthes’ disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years. It is due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction.
A 3-year-old girl is brought to the GP by a worried mother as her child has had a temperature for 72 hours and has now started to develop a rash on her torso and face. She describes the rash as forming in clusters.
The girl is not eating much but is drinking well and has no changes to her urinary or bowel movements. She has no significant medical history and her immunisations are up to date. No-one else in the family has been unwell recently but the mum does inform you that her daughter has recently started attending nursery and a few of the other children have had a similar rash.
On examination: temperature 38.8ºC, scabbed lesions on the left cheek, erythematous vesicles on the trunk.
What is the most appropriate management of this child?
Topical calamine lotion
Chickenpox has a prodrome of raised temperature before the rash begins on the torso and face
There is a classic description of increased temperature for 2 days before developing clusters of erythematous vesicles predominantly affecting the torso and face.
You are asked to speak to a family who have just received a diagnosis of pulmonary hypoplasia on fetal MRI.
Which conditions are the most common cause of pulmonary hypoplasia?
Pulmonary hypoplasia in CDH occurs alongside the hernial development rather than as a direct result of it, as part of a sequence
Infants with congenital diaphragmatic hernia (CDH) have associated pulmonary hypoplasia. This is not necessarily due to direct compression of the lung by herniated viscera but rather occurs as part of a sequence alongside the hernial development.
Oligohydramnios, rather than polyhydramnios, leads to pulmonary hypoplasia. It is believed that oligohydramnios decreases the size of the intrathoracic cavity, thus preventing foetal lung growth.
A mother notices that her newborn boy has small eye openings, a small body and low-set ears. On examination the paediatrician also notes a flat philtrum, a sunken nasal bridge, short palpebral fissures and a thin upper lip. What is the most likely cause?
Fetal alcohol syndrome
Maternal alcohol abuse during pregnancy.
Presentation:
IUGR
microcephaly
midfacial hypoplasia
micrognathia
smooth philtrum
microphthalmia
short palpebral fissures
thin upper lip
irritability
ADHD
Congenital diaphragmatic hernia
Evidence of bowel sounds in a respiratory exam of a neonate in respiratory distress should make you consider a diaphragmatic hernia
The most likely cause of this newborn’s symptoms is a congenital diaphragmatic hernia. It is an important cause of respiratory distress in the newborn and is not always picked up prenatally. The main clue in this case is the presence of bowel sounds within the respiratory examination.
A two-day-old baby who has not passed meconium now has a distended abdomen and is vomiting green bile.
It is suspected that he may have a congenital condition affecting the rectum. Which of the following tests is diagnostic?
Rectal biopsy
This baby has Hirschsprung’s disease, a congenital abnormality causing the absence of ganglionic cells in the myenteric and submucosal plexuses.
The condition occurs in 1/5000 births.
Symptoms include delayed passage of meconium (> 2 days after birth), abdominal distension and bilious vomiting.
Treatment is usually with rectal washouts initially, followed by an anorectal ‘pull-through procedure’.
This involves removing the affected section of bowel and forming an anastomosis with the healthy colon.
Continue monitoring glucose and encourage normal feeding
Neonatal hypoglycaemia: if asymptomatic then encourage normal feeds and monitor glucose
The mother being diabetic predisposes the neonate to hypoglycaemia, as is the case here, but if asymptomatic and not strikingly low, the usual course of action is to continue monitoring blood glucose and encourage normal feeding.
A 1-year-old girl is noted to have a continuous murmur, loudest at the left sternal edge.
She is not cyanosed.
What is the most likely diagnosis?
What pulse abnormality is most associated with this condition?
Patent ductus arteriosus - large volume, bounding, collapsing pulse
A baby is delivered on the ward and on the neonatal examination a systolic heart murmur is heard. An echocardiogram shows right atrial hypertrophy and the septal and posterior leaflet of the tricuspid valve attached to the right ventricle. What is this condition most commonly known as?
Ebstein’s anomaly which is a congenital condition where the tricuspid valve leaflets are attached to the walls and septum of the right ventricle.
At what age would the average child start to say ‘mama’ and ‘dada’?
and understand “no”
9 months
A 4-year-old boy is brought to the emergency department by his mother. The mother appears reluctant for her child to be examined, and concedes she does not trust modern medicine. Her child has not received any of his routine immunisations. She tells you her son was mildly unwell with coryzal symptoms and a mild cough last week, however he has deteriorated in the past 11 days. His cough has worsened to the point he now has intractable coughing spells, which have been so severe on occasion that ‘his lips have gone blue’ and he has had to vomit. His symptoms are especially bad at night.
You recognise that antibiotic therapy will be required in this patient, and consent the mother for her son to receive an appropriate antibiotic to help with his symptoms.
Given the most likely diagnosis, which class of antibiotics is most appropriate to prescribe?
Whooping cough - azithromycin or clarithromycin if the onset of cough is within the previous 21 days
Which conditions are likely to result if a fetus is homozygous for alpha-thalassaemia?
(3)
Clinical severity depends on the number of alpha globulin alleles affected:
If 1 or 2 alpha globulin alleles are affected then the blood picture would be hypochromic and microcytic, but the Hb level would be typically normal
If are 3 alpha globulin alleles are affected results in a hypochromic microcytic anaemia with splenomegaly. This is known as Hb H disease
If all 4 alpha globulin alleles are affected (i.e. homozygote) then death in utero (hydrops fetalis, Bart’s hydrops)
A 5-year-old boy from a travelling community presents to the Emergency Department with breathing difficulties. On examination he has a temperature of 38.2ºC, stridor and a toxic looking appearance. A diagnosis of acute epiglottitis is suspected. Which one of the following organisms is most likely to be responsible?
Acute epiglottitis is caused by Haemophilus influenzae type B
Where are the mutations responsible for alpha thalassemia?
2 separate alpha-globulin genes are located on each chromosome 16
A concerned mother brings her 6-week old baby to your GP practice for their routine postnatal baby check. She is worried about his noisy breathing, which she reports has been worsening over the past few weeks. This baby was born at term with no complications. On examination, you hear an inspiratory stridor but no other abnormal lung sounds. Heart sounds are normal. Baby is alert and playful. There is no suggestion of any cyanosis. Baby has been growing and feeding normally. What is the most likely diagnosis?
Laryngomalacia is a very common, benign cause of noisy breathing in infants
Laryngomalacia should be suspected in an otherwise well infant with noisy breathing. It is caused by a congenital softening of the cartilage of the larynx, causing collapse during inspiration. Laryngomalacia can present at birth, and worsens in the first few weeks of life. It usually self-resolves before 2 years of age.
Which condition is most strongly associated with supravalvular aortic stenosis?
A boy with learning difficulties is noted to be extremely friendly and extroverted. He has short for his age and has supravalvular aortic stenosis - William’s syndrome
A 10-hour-old neonate is reviewed on the neonatal unit, following an uncomplicated vaginal delivery at 34 weeks’ gestation. His mother reports no concerns so far.
On examination, he appears well at rest. A left subclavicular thrill is noted, and on auscultation, a continuous ‘machinery-like’ murmur is heard. He has a large-volume collapsing pulse.
Given the likely diagnosis, an echocardiogram is performed, which demonstrates the defect in question, but no other abnormalities.
What is the most appropriate management at this stage?
Patent ductus arteriosus: indomethacin is given to the neonate in the postnatal period, not to the mother in the antenatal period
A 3.2kg baby boy was born yesterday at 38 weeks without complications during delivery to a 28 year old mother of South-East Asian descent.
The midwife was worried about a number of non-blanching nodules which are purple in colour and a number of visible petechiae so has called for an urgent paediatric review.
On examination hepatosplenomegaly and a heart murmur best auscultated in the left infraclavicular area are noted.
A cataract is also noted in the left eye.
The baby’s mother admits she doesn’t know about her vaccination history as she moved to the UK when she was 22 and hasn’t attended much of her antenatal care during the pregnancy.
What is the most likely cause of this newborns presentation?
Rubella virus
This baby is suffering from congenital rubella syndrome a complication of maternal rubella virus infection during pregnancy.
A 15-year-old female presents to ENT clinic with recurrent ear infections.
On inspection, she has an oval shaped face, epicanthal folds and a single palmar crease.
Her past medical history includes hypothyroidism, type 2 diabetes mellitus, structural heart disease and moderate learning disability.
Give the underlying congenital syndrome.
Which ENT manifestations would you expect in this patient?
Flat nasal bridge
This patient has Down’s syndrome, a genetic syndrome caused by trisomy 21.
ENT manifestations in Down’s syndrome include:
- Flat nasal bridge
- small nose with a flat nasal bridge
- small and low set ears
- hearing issues and ear infections
- hypothyroidism
A 12 month old boy who is currently receiving chemotherapy for acute lymphoblastic leukaemia presents to the GP for routine vaccinations.
The mother reports that the boy is currently well with no fevers or recent infections.
He has no known food or drug allergies.
On examination, the boy is alert, active and appears well.
He has a Hickman line which appears in good condition, with no erythema or tenderness.
Which vaccination is contraindicated in this patient?
Measles, Mumps and Rubella (MMR)
This 12 month old baby boy who is currently on chemotherapy for acute lymphoblastic leukaemia will be immunosuppressed.
Live attenuated vaccines are contraindicated in immunosuppressed patients.
Live attenuated vaccinations include the MMR vaccine (measles, mumps and rubella).
A 4 year old girl who recently started school is brought to her GP with a 24 hour history of feeling generally unwell, tiredness and headache.
She has been eating and drinking but less than normal.
Her mother states that she is usually happy and healthy but seems to have got gradually worse today.
No one else in her class has been unwell.
She has no past medical history and does not take any regular medications.
On examination the child looks unwell and appears quite withdrawn.
Vital signs:
- pulse 100bpm
- BP 110/70
- respiratory rate 22/min
- oxygen saturations 98%
- temperature 38.5 degrees C
She has cold hands and feet and a non-blanching purpuric rash on her left upper thigh.
Which of the following clinical syndromes is this girl most at risk of?
What should the GP do?
Waterhouse-Friderichsen syndrome.
Infection with Neisseria meningitidis can present either as meningitis (non-specific signs such as lethargy, headache, fever, rigors and vomiting) or meningococcaemia (septicaemia), or a mixture of both, associated with a rapidly developing purpuric skin rash.
When this is associated with massive adrenal haemorrhage and septic shock, the presentation is known as Waterhouse-Friderichsen syndrome.
Her GP should reger her to the nearest hospital.
What is Waterhouse-Friderichsen syndrome?
failure of the adrenal glands to function normally as a result of bleeding into the gland.
Meningococcemia is a life-threatening infection that occurs when the bacteria Neisseria meningitidis invades the blood stream
- Fever and chills
- Joint and muscle pain
- Headache
- Vomiting
A 15-month old infant is brought into the emergency department by his babysitter as she is worried that he has not been using his right arm.
She claims he injured his arm when he “fell off his tricycle”.
His medical records show that he is behind on his immunisations and GP visits for the past 6 months.
On examination, he cries when his right arm is touched and there is marked tenderness on palpation of the elbow.
There is an area of swelling just above the elbow.
He also has some bruises in his left axilla.
X-ray of his forearm shows a fracture pattern in the humerus that does not correspond to the mechanism of injury.
Non-accidental injury is suspected.
Which fracture pattern typically occurs due to a twisting force applied on a long bone?
Spiral fracture
Spiral fractures are complete fractures of long bones that result from a rotational force being applied along the axis of a bone while the other extremity is planted.
Spiral fractures in children are a common sign of physical abuse because they are a result of forceful jerking or twisting of a limb.
This child would not be able to ride a tricycle at the age of 15 months and it would be unlikely that a spiral fracture occurred as a result of a fall from a tricycle.
This history coupled with bruises in the axilla and non-attendance for GP visits raises suspicion of non-accidental injury.
An 11-month-old girl is brought into A&E following an episode that is labelled as a single generalised tonic-clonic seizure by the clerking doctor.
The episode lasted 3 minutes and upon arrival she had completely recovered.
She has been unwell for the last 4 days with a high temperature, and this morning her parents noticed an erythematous blanching rash on her torso and neck.
On further questioning, her parents report that this is her first seizure and although they have no family history of epilepsy their son also had a one-off seizure at a similar age.
What is the most likely underlying pathology?
Human Herpes Virus 6 or Roseola Infantum
The child has experienced a febrile convulsion.
Human Herpes Virus 6 or Roseola Infantum is one of the most common causes of febrile convulsions in children.
The infection is characterised by a high fever that lasts for 3-5 days, with a maculopapular rash appearing as the fever subsides. The rash typically affects the trunk before spreading to the face, with similar spots appearing on the uvula and soft palate (Nagayama Spots).
What does Vitamin B3 deficiency cause?
(2)
- Vitamin B3 deficiency causes pellagra (diarrhoea, dermatitis and dementia)
- it is traditionally caused by consuming a diet of primarily corn and maize.
A 4 year old boy is brought into the GP by his father who reports that he has noticed a growing mass in his son’s tummy.
He is otherwise asymptomatic and there are no developmental concerns.
On examination his son there is evidence of abdominal distension and a large smooth mass is palpable in the right flank which does not cross the midline.
A urine dipstick shows evidence of haematuria.
What is the most likely cause of his symptoms?
Wilm’s tumour
Wilm’s tumour is the most common abdominal tumour in children.
It is also known as nephroblastoma and is most common in children under 5 with a peak incidence between 3-4 years of age.
Wilm’s tumours typically do not cross the midline but in up to 5% of cases they may be bilateral.
It presents with a palpable abdominal mass, distension and haematuria.
An 8 year old boy is brought into the A&E by his mother, who is very worried about a rash she has noticed on his legs.
On further questioning, the boy has had coryzal symptoms over the last 3 days but otherwise feels well.
His mother first noticed the rash this morning and has never seen anything like it before.
On examination there is a palpable purpuric rash across the back of his legs.
Cardiovascular and respiratory examination is normal, his temperature is 37.6 and his abdomen and left knee are tender on palpation.
Blood tests reveal an elevated CRP.
What is the likely diagnosis?
Which of the following is the next best investigation?
Urine dipstick
This boy has a triad of;
- purpura over the extensor surfaces of the lower limb
- abdominal pain
- arthritis
This clinical picture is suggestive of Henoch-Schonlein purpura.
It is important that urinalysis is performed and blood pressure is checked to monitor for signs of renal involvement (haematuria/proteinuria/nephritic syndrome/nephrotic syndrome).
A 12 year old, fit boy presents to his GP complaining of a three day history of right hip pain.
There seems to be no history of trauma.
On examination, there is restricted internal rotation and extension of the right hip.
He does not have a temperature and his past medical history is unremarkable.
His immunisations are up to date.
What is the most likely diagnosis?
How is it managed?
Transient synovitis
Transient synovitis is the most common cause of hip pain in children.
It affects boys more than girls and is sometimes associated with minor trauma.
Limited range of motion, specifically extension and internal rotation of the hip can be found.
It is confirmed using a hip x-ray (which will be normal) and ultrasound which shows synovitis.
It is treated using NSAIDs and bedrest for up to 6 weeks.
An eight year old girl is brought into the emergency department by ambulance.
She was found by her mother minimally responsive and with vomit in her mouth.
On examination, she is somnolent but rousable, with a GCS of nine. Observations were normal.
Her mother reports that she had been unwell with a ‘cold’ over the last three days, and her mother had given her aspirin and ibuprofen for her headache and fever.
Blood tests showed a mild anaemia, a transaminitis, raised bilirubin, a prolonged international normalised ratio, raised lactate and a raised C-reactive protein.
A toxicology screen is negative. What is the most likely diagnosis?
Reye’s syndrome
Aspirin should not be given to children under 12 years old because of its association with Reye’s syndrome.
Reye’s syndrome is acute liver failure and non-inflammatory hepatic encephalopathy which occurs in children under 12 who are given aspirin during the acute phase of a viral infection.
Liver biopsies show microvesicular steatosis and venous collapse. Treatment is supportive, and often requires ITU admission.
Lactulose can be used to lower ammonia levels.
