Paediatrics Flashcards
A previously healthy 5 year old boy has a 1 day history of a low grade fever, colicky abdominal pain and a rash. He is well appearing and alert. His vital signs, other than a temperature of 38C are completely normal. A diffuse, erythematous, maculopapular, and petechial rash is present on his buttocks and lower extremities. He has no localised abdominal tenderness or rebound; bowel sounds are active. Laboratory data demonstrate:
Urinalysis: 30 RBCs/high powered field, ++ protein
Stool: Guaiac positive (positive for occult blood)
Platelets: 135x10(9)/L
These findings are most consistent with which of the following? A) Henoch Schonlein purpura B) Meningococcaemia C) Child abuse D) Leukaemia E) Haemophilia B
A - Henoch Schonlein purpura
The clinical presentation described supports the diagnosis of HSP, a generalised, acute vasculitis of unknown cause involving small blood vessels. In this condition, the skin lesion, which is classic in character (palpable purpura) and distribution, is often accompanied by arthritis, usually of the large joints, and by GI symptoms. Colicky abdo pain, vomiting and melena are common.
Renal involvement occurs in a significant number of patients and is potentially the most serious manifestation of the disease. Although most children with complication recover, a few develop chronic nephritis. Lab studies are not diagnostic. Serum complement and IgA levels can be normal or elevated. Coagulation studies and platelets are normal. Meningococcal infection and leukaemia should be in the differential, as both can cause purpura, but in a well appearing child with normal vital signs and normal blood count they are unlikely. Child abuse and haemophilia will typically result in bruises not petechiae.
A 6 year old boy is often teased as school because he has stolid in his underwear almost daily for the last 3 months. He was toilet trained at 2 years of age without difficulty, but over the last 2 years he had developed ongoing constipation. His family is frustrated because they cannot believe him when he says “I didn’t know when I had to go.” He is otherwise normal; school is going well, and his home life is stable. His only finding on examination is significant for stool in the rectal vault. The plain radiograph of his abdomen shows a dilated, stool filled colon. Initial management of this problem should include which of the following?
A) Barium enema and rectal biopsy
B) Family counselling
C) Time-put when he stools in his underwear
D) Clear faecal impaction and short-term stool softener use
E) Daily enemas for 4 weeks
D - Clear faecal impaction and short-term stool softener use
Encopresis is defined as the passage of faeces in inappropriate locations after bowel control would be expected (usually >4 years). Encopresis is seen both with chronic constipation and overflow incontinence (retentive encopresis) and without constipation (non-retentive encopresis). Retentive encopresis is more common, and is the source of this child’s problem. There is leakage of fluid stool around a large faecal impaction, resulting in retentive encopresis. Treatment involves clearing the faecal mass, maintaing soft stools for a short period of time with mineral oil or stool softeners (3-6 months), and behavioural modification. Most children will grow out of this condition. Time-out would be ineffective, because these children usually have dysfunctional anal sphincters and little control over the problem; they do not know they are soiling their clothes until it is too late. Daily enemas could potentially be harmful. A rectal biopsy would help diagnose Hirschsprung disease, but the story presented is not consistent with that diagnosis.
A 16 year old arrives to your office soon after beginning basketball season. He states that he has had progressive pain in his knees. A physical examination reveals, in addition to tenderness, a swollen and prominent tibial tubercle. Radiographs of the area are unremarkable. Which of the following is the most likely diagnosis?
A) Osgood-Schlatter disease B)Popliteal cyst C) Slipped capital femoral epiphysis D) Legg-Calve-Perthes disease E) Gonococcal arthritis
A
This history is typical Osgood-Schlatter disease. Microfractures in the area of the insertion of the patellar tendon in the tibial tubercle are common in athletic adolescents. Swelling,tenderness, and an increase in size of the tibial tuberosity are found. Radiographs can be necessary to rule out other conditions. Treatment consists of rest.
Legg-Calve-Perthers disease is avascular necrosis of the femoral head. This condition usually produces mild or intermittent pain in the anterior thigh but can also present as a painless limp. Gonococcal arthritis, although common in this age range, is uncommon in this anatomic site. More significant systemic signs and symptoms, including chills, fever, migratory polyarthralgia, and rash are commonly seen. Slipped capital femoral epiphysis is usually seen in a younger, more obese child (mean age about 10y) or in a thinner, older child who has undergone a rapid growth spurt. Pain upon movement of the hip is typical. Popliteal cysts are found in the posterior aspect of the knee. Observation is usually all that is necessary, as they typically resolve over several years. Surgical excision is indicated in the cysts progressively enlarges or if there are unacceptable symptoms associated with the cysts.
A 1 year old presents for a well-child checkup, but the parents are concerned about giving the child his immunisations. Which of the following is a true contraindication to the administration of the DTaP (diphtheria and tetanus toxoid an acellular pertussis) vaccine?
A) Child is currently on amoxicillin for an otitis media
B) Positive FHx of adverse reaction to DTaP vaccine
C) A past Hx of infantile spasms
D) Child is currently febrile to 39C
E) Prolonged seizures 6 days after the last DTaP vaccine
E
There are few true contract indications to vaccines, but many misconceptions. The one contraindication for all vaccines is a prior history of a severe allergic reaction to a component of the vaccine. For the DTaP, another contraindication is the occurrence is encephalopathy (such as coma, altered level of consciousness, or prolonged seizures) within 7 days of administration of the previous dose. Minor illnesses; current antibiotic therapy; Hx of local reaction (such as erythema or swelling) after previous immunisations; FHx of seizures, SIDS, or adverse events due to DTaP; and stable, non progressive neurologic conditions (eg. cerebral palsy, controlled seizures disorder or developmental delay) are not contraindications.
A 20 month old child is brought to A&E because of fever and irritability and refusal to move his right lower extremity. Physical examination reveals a swollen and tender right knee that resists passive motion. Which of the following is the most likely to yield the diagnosis in this patient?
A) Examination of joint fluid B) X-ray of the knee C) ESR D) FBC and differential E) Blood culture
A
All of the answers may ultimately done, but examination of the joint fluid is the key to diagnosis. The joint tap will reveal cloudy fluid containing a predominance of polymorphonuclear leukocytes. Organisms are readily sons on Gram stain examinational cultures of joint fldui and blood are usually positive. X-ray reveals a widened joint space. Finding pus in the joint indicated the need for immediate surgical drainage and prompt institution of IV antibiotic therapy to avoid serious damage to the joint and permanent loss of function. The most common organism found to cause septic arthritis is S.aureus. Since immunisation against Haemophilus influenza type B has become an establish practice, invasive disease such as septic arthritis caused by this organism is rarely seen. In sexually active adolescents, Neisseria gonorrhoea is a common cause of septic arthritis.
A 1 week old child’s mother complains that the child has a transient rash that has splotchy areas of erythema with a central clear pustule. Your microscopic examination of the liquid in the pustule reveals eosinophils.
Most likely diagnosis? A) Sebaceous naevus B) Salmon patch C) Neonatal acne D) Pustular melanosis E) Erythema toxicum F) Seborrheic dermatitis G) Milia
E
Erythema toxic is a benign, self-limited condition of unknown aetiology. It is found in about 50% of term newborns. Lesions are yellow-white and 1-2mm in size, with a surrounding edge of erythema. This rash waxes and wanes over the first days to weeks of life. Examination of the fluid from these lesions demonstrates eosinophils. No therapy is indicated.
An adolescent boy complains of a splotchy red rash on the nape of neck, discovered when he had his head shaved for football season. The rash seems to become more prominent with exercise or emotion. His mother notes that he has had a rash since infancy, but that it becomes invisible as hair grew. He had a similar rash on his eyelids that resolved in the newborn period.
Most likely diagnosis? A) Sebaceous naevus B) Salmon patch C) Neonatal acne D) Pustular melanosis E) Erythema toxicum F) Seborrheic dermatitis G) Milia
B
Salmon patches (aka nevus simplex or flameus) are flat vascular lesions that occur in listed regions and appear more prominent during crying. The lesions on the face fade over the first weeks of life. Lesions found over the nuchal and occipital areas often persist. No therapy is indicated.
A nurse calls you to evaluate an African American newborn, whom she thinks has a bacterial skin infection. The areas in question have many scattered pustules full of a milky fluid. Upon examining pustules, they are easily wipe away, revealing a small hyper-pigmented macule.
Most likely diagnosis? A) Sebaceous naevus B) Salmon patch C) Neonatal acne D) Pustular melanosis E) Erythema toxicum F) Seborrheic dermatitis G) Milia
D
Pustular melanosis is another benign, self-limited disease of unknown aetiology of the newborn period. It is more common in blacks than in whites. These lesions are usually found at birth and consist of 1-2mm pustules that result in a hyper-pigmented lesion upon rupture of the pustule. The pustular stage of these lesions occurs during the first few days of life, with the hyper-pigmented stage lasting for weeks to months. No therapy is indicated.
The obstetric resident on call asks you to evaluate an area of newborn’s scalp that seems to have no hair and is scaly and yellowish.
Most likely diagnosis? A) Sebaceous naevus B) Salmon patch C) Neonatal acne D) Pustular melanosis E) Erythema toxicum F) Seborrheic dermatitis G) Milia
A
Sebaceous nevis are small, sharply edged lesions that occur most commonly on the head and neck of infants. These lesions are yellow-orange in colour and are slightly elevated. They usually are hairless. Malignant degeneration is possible, most commonly after adolescence.
A newborn’s mother complains that her infant seems to have very small white dots all over his nose. The dots do not wipe off with bathing but they are also not erythematous.
Most likely diagnosis? A) Sebaceous naevus B) Salmon patch C) Neonatal acne D) Pustular melanosis E) Erythema toxicum F) Seborrheic dermatitis G) Milia
G
Milia are fine, yellowish white, 1-2mm scattered over the face and gingival of the neonate. They are cysts that contain keratinised material. Commonly, these lesions resolve spontaneously without therapy. When on the palate, they are called Epstein pearls.
A newborn’s father complains that his son has dandruff, with many waxy flakes of skin on the scalp. When he scrapes the lesions, hair often comes off with the flakes of skin. In addition, the baby has flaking of the eyebrows.
Most likely diagnosis? A) Sebaceous naevus B) Salmon patch C) Neonatal acne D) Pustular melanosis E) Erythema toxicum F) Seborrheic dermatitis G) Milia
F
Seborrhoeic dermatitis can begin anytime during life and frequently presents as cradle cap in the newborn period. This rash is communly greasy, scaly, and erythematous and in smaller children involves the face, neck, axilla and diaper area. In older children, the rash can be localised to the scalp and intertriginous areas. Pruritus can be marked.
A 3 year old boy awakens every night around 2am screaming incoherently. His parents note that he is agitated, seems awake but unresponsive and goes back to sleep within a few minutes. He has no memory of the episodes in the morning.
Choose the sleep disturbance most consistent with the history A) Night terrors B) Nightmares C) Learned behaviour D) Obstructive sleep apnoea E) Somniloquy
A
Night terrors (pavor nocturnus) are non-REM phenomena seen less commonly than nightmares, occurring in 1-6% of all children. The child will be described as apparently awake but unresponsive; they can have evidence of autonomic arousal such as tachycardia, sweating and tachypnoea and appear frightened and agitated. Attempts at calming the child are usually not effective, and the child will eventually go back to sleep. Although usually a problem in early childhood, night terrors can sometimes continue through adolescence.
A 15 month old toddler continues to wake up crying every night. Her parents give her a night time bottle, rock her, and sing to her to help her go back to sleep. Her parents are exhausted and ask you if she is having bad dreams.
Choose the sleep disturbance most consistent with the history A) Night terrors B) Nightmares C) Learned behaviour D) Obstructive sleep apnoea E) Somniloquy
C
Many children resist going to bed, and parents frequently give in just to get the child to sleep by allowing the child to sleep in the parents’ bed or allowing them to stay up late. Unfortunately, learn remarkably well how to get what they want, and the parents’ concessions only make the problem worse. Learned behaviour is the root of many sleep disturbances in young children.
Parents hear over their baby monitor that their 5 year old girl regularly calls our during the night. When the parents check on her, she is sleeping comfortably and is in no apparent distress.
Choose the sleep disturbance most consistent with the history A) Night terrors B) Nightmares C) Learned behaviour D) Obstructive sleep apnoea E) Somniloquy
E
Somnambulism, or sleepwalking, occurs in 15% children and is described as recurrent episodes of rising from bed and walking around. The child is typically hard to arouse and will have amnesia after the events. This usually happens in the first third of the sleep cycle during stage 4 non-REM sleep. Somniloquy, or sleep talking, can occur at any sleep stage and is seen in all ages.
A 4 year old boy occasionally wakes in the middle of the night crying. When his parents check on him, he seems visibly frightened and tells his parents that Chihuahuas were chasing him.
Choose the sleep disturbance most consistent with the history A) Night terrors B) Nightmares C) Learned behaviour D) Obstructive sleep apnoea E) Somniloquy
B
A nightmare is a scary or disturbing dream that usually awakens the child and causes agitation about the content of the dream. Nightmares occur during REM sleep. Many children and adults have an occasional nightmare; recurrent or frequent nightmares, however, may be indicative of an on-going stress in the child’s life.
A 5 year old child refuses to sleep in his bed, claiming there are monsters in his closet and that he has bad dreams. The parents allow him to sleep with them in their bed to avoid the otherwise inevitable screaming fit. His parents note that the child sleeps soundly, waking only at sunrise.
Choose the sleep disturbance most consistent with the history A) Night terrors B) Nightmares C) Learned behaviour D) Obstructive sleep apnoea E) Somniloquy
C - learned behaviour.
Give common causes of congenital infections
CHEAP TORCH
Chickenpox Hepatitis B, C, (D), E Enterovirus AIDS Parvovirus B19
Toxoplamsosis Other - syphilis, GBS, Listeria, Candida, Lyme, Rubella CMV HSV
Congenital Rubella infection presentation triad
Sensorineural hearing loss + ocular abnormalities + congenital heart defect
Ocular abnormalities include cataracts, infantil glaucoma, chorioretinitis, retinitis pigmentosa
Heart defects include PDA, pulmonary artery stenosis, ASD, VSD
In which of the following conditions is the abdominal viscera herniated through the umbilical cord and encased in a transparent membrane?
A) Hirschsprung's B) Gastroschisis C) Congenital Rubella D) Exomphalos E) Thalassemia
D - exomphalos.
This is a defect in development as the bowel fails to return to the abdomen during embryogenic development.
C.f. gastroschisis where the abdominal viscera herniates through an anterior abdominal wall defect adjacent to the umbilical cord and is NOT encased in a membrane.
A 1 year old boy has been admitted three times in the past with abscess formation requiring incision and drainage. He is now admitted for surgical drainage of a hepatic abscess identified on USS.
Most appropriate diagnostic laboratory test: A) ESR B) Serum immunoglobulin levels C) Nitroblue tetrazolium (NBT) test D) CH50 assay E) FBC demonstrating Howell-Jolly bodies F) Platelet count G) Intradermal skin test using Candida albicans
C) Nitroblue tetrazolium test
The NBT or other respiratory burst assay will help identify phagocytic-cell defects such as chronic granulomatous disease (causing the frequent liver abscess in the child)
A 5 month old infant is admitted with severe varicella infection. The lesions cover the infant’s entire body, and the infant is beginning to show symptoms of respiratory distress. PMHx is significant for a history of atopic dermatitis. The family also notes frequent epistaxis; the last episode required nasal packing in A&E.
Most appropriate diagnostic laboratory test: A) ESR B) Serum immunoglobulin levels C) Nitroblue tetrazolium (NBT) test D) CH50 assay E) FBC demonstrating Howell-Jolly bodies F) Platelet count G) Intradermal skin test using Candida albicans
F - Platelet count.
Wiskott-Aldrich syndrome is unlikely if the platelet count is normal; Wiskott-Aldrich syndrome must be considered in a patient with severe eczema, thrombocytopenia, and unusual infections.
A 3 year old has had repeated episodes on sinusitis and otitis media. He was recently admitted for osteomyelitis of his femur with S.aureus. The family notes that while his first 4-5 months of life were normal, he has been persistently ill with multiple infections in the ensuing months. The mother notes that her brother had similar problems with infections and died at the age of 3 years from a ‘lung infection’. Physical examination is significant for the absence of lymph nodes and tonsillar tissue.
Most appropriate diagnostic laboratory test: A) ESR B) Serum immunoglobulin levels C) Nitroblue tetrazolium (NBT) test D) CH50 assay E) FBC demonstrating Howell-Jolly bodies F) Platelet count G) Intradermal skin test using Candida albicans
B - Serum immunoglobulin levels
B cell defects are likely to result in low IgA, G & M levels and result in multiple infections such as that described in the 3 year old with otitis media and sinusitis.
A GP refers to you for evaluation a 3 year old boy with frequent infections. You note the child to have a loud systolic murmur, posteriorly rotatedears that are small and low-set, down-slanting and widely spaced eyes, a small jaw, and an upturned nose. At birth the child spent 2 weeks in the nursery for “low calcium” and seizures, and he still receives calcium supplementation, but the mother does not know why. You would like to order a rapid diagnostic test for this child.
Most appropriate diagnostic laboratory test: A) ESR B) Serum immunoglobulin levels C) Nitroblue tetrazolium (NBT) test D) CH50 assay E) FBC demonstrating Howell-Jolly bodies F) Platelet count G) Intradermal skin test using Candida albicans
G - intradermal skin test using candida albicans
An intradermal test using Candida albicans will result in no response in the patient with T cell deficiencies, such as in the question of the dysmorphic child who possibly has DiGeorge syndrome.
A 2 year old girl has had 2 episodes of Neisseria meningitides septicaemia and is now admitted for Strep pneumonia septicemia.
Most appropriate diagnostic laboratory test: A) ESR B) Serum immunoglobulin levels C) Nitroblue tetrazolium (NBT) test D) CH50 assay E) FBC demonstrating Howell-Jolly bodies F) Platelet count G) Intradermal skin test using Candida albicans
E) - FBC demonstrating Howell-Jolly bodies
Asplenia results in Howell-Jolly bodies and also an increased risk for encapsulated organisms such as pneumococcus or meningococcus; a FBC with a peripheral smear can rule out this disease.
A mother calls you frantic because she has just been diagnosed with chickenpox. She delivered 7 days ago a term infant that appears to be eating, stooping, and urinating well. The child has been afebrile and seems to be doing well. Which of the following is the most appropriate step in the management?
A) Isolate the infant from the mother
B) Hospitalize the infant in the isolation ward.
C) Administer acyclovir to the infant
D) Administer VZV immunoglobulin to the infant
E) Advise the mother to continue regular well-baby care for the infant.
E
VZIG is recommended for infants whose mothers develop chickenpox (but not herpes zoster) in the period seven days before to seven days after delivery. VZIG can be given without antibody testing of the infant. VZIG is not usually required for infants born more than 7 days after the onset of maternal chickenpox or whose mothers develop zoster before or after delivery, as these infants will have maternal antibody. VZIG is also recommended for:
a) VZ antibody-negative infants exposed to chickenpox or herpes zoster (other than in the mother) in the first 7 days of life
b) VZ antibody negative infants of any age exposed to chickenpox of herpes zoster while still requiring intensive or prolonged special care nursing.
You are seeing a 2 year old boy for the first time. His father denies any PMHx or PSHx, but does note that the child’s day care recently sent a note home asking about several episodes, usually after the child does not get what he wants, when he ‘breathes funny’ and sits in the corner with his knees under his chin for a few minutes. The day-care staffers think this ‘self-imposed time out’ is a good thing, but they worry about the breathing. One teacher even thought he once looked blue, but decided that it was probably because of the finger paints he had been using. O/E you identify a right ventricular impulse, a systolic thrill along the left sternal border, and a harsh systolic murmur (loudest at the left sternal border but radiation through the lung fields). His chest radiograph shows a “boot shaped” heart. Which of the following congenital cardiac lesions would you expect to find in this child?
A) PDA B) Right ventricular outflow obstruction C) ASD D) Transposition of the great vessels with a PFO E) Hypoplastic left heart
B - Right ventricular outflow obstruction
This child has tetralogy of Fallot, which consists of right ventricular outflow obstruction (pulmonary stenosis), VSD, dextraposition of the aorta, and right ventricular hypertrophy.
As well as the radiograph showing the typical “boot shaped” heart, an ECG demonstrates the increased right ventricular forces. Children with tetralogy of Fallot may have cyanotic episodes (“tet spells”) associated with acute reduction in pulmonary blood flow. Typically, these spells are self-limited, lasting no more than 30 minutes. Assuming the knee-chest position is thought to increase peripheral resistance, decreasing the amount of right-to-left shunting and thus increasing pulmonary blood flow. Alternative therapies include morphine sulphate and propranolol. Prolonged hypoxia can lead to acidosis; correction may require infusion of sodium bicarbonate.
Patent ductus arteriosus is likely to present in this aged child with a constant, machine-like murmur, and if the flow is big enough, with evidence of progressive congestive heart failure. An ASD will have a fixed split second heart sound and a pulmonic stenosis murmur; it can also present with progressive evidence of heart failure if the flow across the ASD is large enough. Transposition of the great vessels with a PFO and hypo plastic left heart syndrome are neonatal conditions; presentations are in the newborn period.
For the past year, a 12 year old boy has had recurrent episodes of swelling of his hands and feet, which has been getting worse recently. These episodes occur following exercise and emotional stress, last for 2-3 days, and resolve spontaneously. The last episode was accompanied by abdominal pain, vomiting and diarrhoea. The results of routine laboratory workup are normal. An older sister and a maternal uncle have had similar episode, but they were not given a diagnosis. He presents today with another episode.Which of the following is the most likely diagnosis?
A) SLE B) Focal glomerulosclerosis C) Congenital nephrotic syndrome D) Hereditary angioedema E) HSP
D - Hereditary angioedema
This conditions often worsens in adolescents. Although hereditary angioedema is relatively rare as a cause of oedema, the recurrent episodes in late childhood, the normal lab results, and the family history make the other choices less likely. Hereditary angioedema, transmitted as an autosomal dominant trait, is a result of inadequate function (owing to either deficient quantity or quality) of an inhibitor of the first step in the complement cascade, which results in the excessive production of a vasoactive kinin. In addition to otherwise asymptomatic subcutaneous oedema, oedema can occur in the GI tract and produce the symptoms mentioned in the question. Laryngeal oedema with airway obstruction can also occur.
A 10 month old infant has poor weight gain, a persistent cough, and a history of several bouts of pneumonitis. The mother describes the child as having very large, foul-smelling stools for months. Which of the following diagnostic manoeuvres is likely to result in the correct diagnosis of this child?
A) CT of the chest B) Serum Igs C) TB skin test D) Inspiratory and expiratory CXR E) Sweat chloride test
E - Sweat chloride test
Cystic fibrosis (CF) is multi system disease caused by an abnormally functioning CFTR protein. Abnormal secretions are produced as a result of decreased permeability of ionised chloride in the secretory epithelium of a number of organs. Progressive lung failure is caused by accumulation of viscid secretions that obstruct the airway and lead to infection, bronchiectasis, and inflammatory changes. Survival has improved markedly during the past few decades as a result of prompt recognition of CF and aggressive treatment; the median age at death has increased from less than 10 years to more than 30 years. Therapeutic approaches have included inhalation therapy, chest physical therapy, aggressive antibiotic administration, bronchodilators, oxygen and nutritional support. Heart-lung transplants have prolonged life and improved quality of life for some terminal patients. Several new approaches to the treatment of CF have been proposed, namely, the use of amiloride, purified human plasma a1-antitrypsin, recombinant DNAse, and gene therapy. The rationale for these therapeutic modalities is that they focus directly on ameliorating or correcting the basic deficit: amiloride by inhibiting sodium and with it water reabsorption, thereby improving airway dehydration: a1-antitrypsin by counteracting the effects on the lungs of neutrophil elastase, a proteolytic enzyme released by neutrophils; DNAse by reacting with DNA released by dead leukocytes to reduce sputum viscosity; and gene therapy by altering genetic material. Lung cancer does not appear to be associated with CF. Unlike many other tests, there is almost no overlap in chloride values in sweat between patients with CF and normal control participants. A chloride concentration of >60mmol/L is diagnostic, values
