Conditions Flashcards

Question

How does the tympanic membrane look in otitis media?

Answer 1

In a normal child the tympanic membrane should be “pearly-grey”, translucent and slightly shiny. You should be able to visualise the malleus through the membrane and a cone of light reflecting the light of the otoscope. Otitis media will give a bulging, red, inflamed looking membrane. When there is a perforation, you may see discharge in the ear canal and a hole in the tympanic membrane.

Answer 2

Consider referral to paediatrics for assessment or admission if symptoms are severe or there is diagnostic doubt. Always refer for specialist assessment and to consider admission in infants younger than 3 months with a temperature above 38ºC or 3 – 6 months with a temperature higher than 39ºC. Most cases of otitis media will resolve without antibiotics, and NICE guidelines from 2018 highlight the importance of not providing antibiotics for otitis media. They state that most cases of otitis media will resolve within 3 days without antibiotics, but it can last for up to a week. Complications (mainly mastoiditis) are rare. Give simple analgesia to help with pain and fever. There are three options regarding prescribing antibiotics to patients with otitis media: - Immediate antibiotics - Delayed prescription - No antibiotics Consider prescribing antibiotics at the initial presentation in patients who have significant co-morbidities, are systemically unwell or are immunocompromised. Children less than 2 years with bilateral otitis media and children with otorrhoea (discharge) are more likely to benefit from antibiotics. Consider a delayed prescription that can be collected and used after 3 days if symptoms have not improved or have worsened at any time. This can be useful with patients that are very keen on antibiotics or where you suspect they might get worse. The first line choice of antibiotic is amoxicillin for 5 days. Alternatives are erythromycin and clarithromycin. Always safety-net, offering education and advice to patients and parents on when to seek further medical attention.

Answer 3

Otitis medial with effusion Hearing loss (usually temporary) Perforated eardrum Recurrent infection Mastoiditis (rare) Abscess (rare)

Answer 4

Glue ear is also known as otitis media with effusion. The middle ear becomes full of fluid, causing a loss of hearing in that ear. The Eustachian tube connects the middle ear to the back of the throat. It helps drain secretions from the middle ear. When it becomes blocked, this causes middle ear secretions (fluid) to build up in the middle ear space. The main symptom of glue ear is a reduction in hearing in that ear. The main complication of glue ear is infection (otitis media). Otoscopy can show a dull tympanic membrane with air bubbles or a visible fluid level, although it can look normal.

Answer 5

Management Referral for audiometry to help establish the diagnosis and extent of hearing loss. Glue ear is usually treated conservatively, and resolves without treatment within 3 months. Children with co-morbidities affecting the structure of the ear, such as Down’s syndrome or cleft palate may require hearing aids or grommets. Grommets Grommets are tiny tubes inserted into the tympanic membrane by an ENT surgeon. This allows fluid from the middle ear to drain through the tympanic membrane to the ear canal. Usually grommets are inserted under general anaesthetic as a day case procedure. The procedure is relatively safe with few complications. Grommets usually fall out within a year, and only 1 in 3 patients require further grommets to be inserted for persistent glue ear.

Answer 6

Congenital - Maternal rubella or cytomegalovirus infection during pregnancy - Genetic deafness can be autosomal recessive or autosomal dominant - Associated syndromes, for example Down’s syndrome Perinatal - Prematurity - Hypoxia during or after birth After birth - Jaundice - Meningitis and encephalitis - Otitis media or glue ear - Chemotherapy

Answer 7

Younger children (under 3 years) are tested by looking for a basic response to sound (i.e. turning towards a sound). Older children can be tested properly with headphones and specific tones and volumes. The results of audiometry testing are recorded on an audiogram, which can help identify and differentiate conductive and sensorineural hearing loss. Audiogram Audiograms are charts that document the volume at which patients can hear different tones. The frequency in hertz (Hz) is plotted on the x-axis, from low to high pitched. The volume in decibels (dB) is plotted on the y-axis, from loud at the bottom to quiet at the top. It is worth noting that the lower down the chart, the higher the decibels and the louder the volume. Hearing is tested to establish the minimum volume required for the patient to hear each frequency, and this level is plotted on the chart. The louder the sound required for the patient to hear, the worse their hearing is and the lower on the chart they will plot. For example, a 1000 Hz sound will be played at various volumes until the patient can just about hear the sound. If this sound is heard at 15 dB, a mark is made on the chart where 1000 Hz meets 15 dB. If this sound can only be heard at 80 dB, a mark is made where 1000 Hz meets 80 dB. Hearing is tested in both ears separately. Both air and bone conduction are tested separately. The following symbols are used to mark each of these separate measurements: X – Left sided air conduction ] – Left sided bone conduction O – Right sided air conduction [ – Right sided bone conduction When a patient has normal hearing, all readings will be between 0 and 20 dB, at the top of the chart. In patients with sensorineural hearing loss, both air and bone conduction readings will be more than 20 dB, plotted below the 20 dB line on the chart. This may affect only one side, one side more than the other or both sides equally. In patients with conductive hearing loss, bone conduction readings will be normal (between 0 and 20 dB), however air conduction readings will be greater than 20 dB, plotted below the 20 dB line on the chart. In conductive hearing loss, sound can travel through bones but is not conducted through air due to pathology along the route into the ear. In patients with mixed hearing loss, both air and bone conduction readings will be more than 20 dB, however there will be a difference of more than 15 dB between the two (bone conduction > air conduction).

Answer 8

Establishing the diagnosis is the first step. After the diagnosis is established, input from the multidisciplinary team is required for support with hearing, speech, language and learning: Speech and language therapy Educational psychology ENT specialist Hearing aids for children who retain some hearing Sign language

Answer 9

Patients should be referred to the local cleft lip services. This involves the specialist multi-disciplinary team: Specialist nurses to support and coordinate care Plastic, maxillofacial and ENT surgeons Dentists Speech and language therapists Psychologists General practitioners The first priority is to ensure the baby can eat and drink. This may involve specially shaped bottles and teats. The specialist nurse will follow the child up through surgery and beyond to ensure good development. The definitive treatment is to surgically correct the cleft lip or palate. This leaves a subtle scar, but is generally very successful, giving full functionality to the child. Cleft lip surgery is usually performed at 3 months, whilst cleft palate surgery done at 6 – 12 months.

Answer 10

Tongue tie is also known as ankyloglossia. This is when a baby is born with a short and tight lingual frenulum, the attachment of the tongue to the floor of the mouth. This prevents them properly extending their tongue out of the mouth and makes it difficult for them to latch onto the breast. It usually presents as poor feeding or when noticed by the mother, midwife or doctor on newborn checks. Management Mild tongue tie can be monitored and would not be expected to cause any issues. When it affect feeding they may benefit from treatment. Tongue tie can be cured with a frenotomy. This involves a trained person cutting the tongue tie. This can usually be done on the ward or in the clinic without any anaesthetic. Complications are very rare, and include excessive bleeding, scar formation and infection.

Answer 11

A cystic hygroma is a malformation of the lymphatic system that results in a cyst filled with lymphatic fluid. It is most commonly a congenital abnormality and is typically located in the posterior triangle of the neck on the left side. It may be seen on antenatal scans, picked up on routine baby checks or discovered later when noticed incidentally. Key Features Cystic hygromas most commonly present in the neck or armpit. They: - Can be very large - Are soft - Are non-tender - Transilluminate To transilluminate the cystic hygroma, hold a pen torch flat against the skin and watch as the whole thing lights up like a bulb.

Answer 12

Complications Depending on the location and size, cystic hygromas can interfere with feeding, swallowing or breathing. It can become infected, in which case it will turn red, hot and tender. There can be haemorrhage into the cyst. Management Treatment varies based on the size, location and complications. Watching and waiting can be appropriate as it is a benign condition. They do not resolve spontaneously, but can show some regression. Aspiration (giving temporary improvement), surgical removal and sclerotherapy are treatment options.

Answer 13

During fetal development, the thyroid gland starts at the base of the tongue. From here it gradually travels down the neck to its final position in front of the trachea, beneath the larynx. It leaves a track behind called the thyroglossal duct, which then disappears. When part of the thyroglossal duct persists it can give rise to a fluid filled cyst. This is called a thyroglossal cyst. Ectopic thyroid tissue is a key differential diagnosis, as this commonly occurs at a similar location. The main complication is infection of the cyst, causing a hot, tender and painful lump. Features Thyroglossal cysts usually occur in the midline of the neck. They are: - Mobile - Non-tender - Soft - Fluctuant Thyroglossal cysts move up and down with movement of the tongue. This is a key feature that demonstrates a midline neck lump is a thyroglossal cyst. This occurs due to the connection between the thyroglossal duct and the base of the tongue.

Answer 14

Ultrasound or CT scan can confirm the diagnosis. Thyroglossal cysts are usually surgically removed to provide confirmation of the diagnosis on histology and prevent infections. The cyst can reoccur after surgery unless the full thyroglossal duct is removed.

Answer 15

During inspiration the chest wall and diaphragm pull the lungs open. This also pulls the heart open. This is called negative intra-thoracic pressure. This causes the right side of the heart to fill faster as it pulls in blood from the venous system. The increased volume in the right ventricle causes it to take longer for the right ventricle to empty during systole, causing a delay in the pulmonary valve closing. When the pulmonary valve closes slightly later than the aortic valve, this causes the second heart sound to be “split”.

Answer 16

Escherichia coli (E. coli) is a normal intestinal bacteria. Only certain strains cause gastroenteritis. It is spread through contact with infected faeces, unwashed salads or contaminated water. E. coli 0157 produces the Shiga toxin. This causes abdominal cramps, bloody diarrhoea and vomiting. The Shiga toxin destroys blood cells and leads to haemolytic uraemic syndrome (HUS). The use of antibiotics increases the risk of haemolytic uraemic syndrome, therefore antibiotics should be avoided if E. coli gastroenteritis is considered.

Answer 17

Campylobacter is a common cause of travellers diarrhoea. It is the most common bacterial cause of gastroenteritis worldwide. Campylobacter means “curved bacteria”. It is a gram negative bacteria that has a curved or spiral shape. It is spread by: Raw or improperly cooked poultry Untreated water Unpasteurised milk Incubation is usually 2 to 5 days. Symptoms resolve after 3 to 6 days. Symptoms are: Abdominal cramps Diarrhoea often with blood Vomiting Fever Antibiotics can be considered after isolating the organism where patients have severe symptoms or other risk factors such as HIV or heart failure. Popular antibiotic choices are azithromycin or ciprofloxacin

Answer 18

Shigella is spread by faeces contaminating drinking water, swimming pools and food. The incubation period is 1 to 2 days and symptoms usually resolve within 1 week without treatment. It causes bloody diarrhoea, abdominal cramps and fever. Shigella can produce the Shiga toxin and cause haemolytic uraemic syndrome. Treatment of severe cases is with azithromycin or ciprofloxacin.

Answer 19

Salmonella is spread by eating raw eggs or poultry, or food contaminated with the infected faeces of small animals. Incubation is 12 hours to 3 days and symptoms usually resolve within 1 week. Symptoms are watery diarrhoea that can be associated with mucus or blood, abdominal pain and vomiting. Antibiotics are only necessary in severe cases and should be guided by stool culture and sensitivities.

Answer 20

Bacillus cereus is a gram positive rod spread through inadequately cooked food. It grows well on food not immediately refrigerated after cooking. The typical food is fried rice left out at room temperature. Whilst growing on food it produces a toxin called cereulide. This toxin causes abdominal cramping and vomiting within 5 hours of ingestion. When it arrives in the intestines it produces different toxins that cause a watery diarrhoea. This occurs more than 8 hours after ingestion. All of the symptoms usually resolves within 24 hours. The typical course is vomiting within 5 hours, then diarrhoea after 8 hours, then resolution within 24 hours.

Answer 21

Viral gastroenteritis is common. It is highly contagious. Common causes are: - Rotavirus - Norovirus

Answer 22

Vulvovaginitis refers to inflammation and irritation of the vulva and vagina. It is a common condition often affecting girls between the ages of 3 and 10 years. This irritation is caused by sensitive and thin skin and mucosa around the vulva and vagina in young girls. The vagina is more prone to colonisation and infection with bacteria spread from faeces. It can be exacerbated by: - Wet nappies - Use of chemicals or soaps in cleaning the area - Tight clothing that traps moisture or sweat in the area - Poor toilet hygiene - Constipation - Threadworms - Pressure on the area, for example horse riding - Heavily chlorinated pools Vulvovaginitis improves and is much less common after puberty, as oestrogen helps keep the skin and vaginal mucosa healthy and resistant to infection.

Answer 23

Vulvovaginitis is a common presentation in young girls before puberty. It presents with: Soreness Itching Erythema around the labia Vaginal discharge Dysuria (burning or stinging on urination) Constipation A urine dipstick may show leukocytes but no nitrites. This will often result in misdiagnosis as a urinary tract infection.

Answer 24

Often patients have already been treated for urinary tract infections and thrush, usually with little improvement in symptoms. It is unusual for girls to develop thrush before puberty. Generally no medical treatment is required and management focuses on simple measures to improve symptoms: Avoid washing with soap and chemicals Avoid perfumed or antiseptic products Good toilet hygiene, wipe from front to back Keeping the area dry Emollients, such as sudacrem can sooth the area Loose cotton clothing Treating constipation and worms where applicable Avoiding activities that exacerbate the problem In severe cases an experienced paediatrician may recommend oestrogen cream to improve symptoms.

Answer 25

Nephrotic syndrome occurs when the basement membrane in the glomerulus becomes highly permeable to protein, allowing proteins to leak from the blood into the urine. It is most common between the ages of 2 and 5 years. It presents with frothy urine, generalised oedema and pallor. Nephrotic syndrome features a classic triad of: - Low serum albumin - High urine protein content (>3+ protein on urine dipstick) - Oedema There are three other features that occur in patients with nephrotic syndrome: - Deranged lipid profile, with high levels of cholesterol, triglycerides and low density lipoproteins - High blood pressure - Hyper-coagulability, with an increased tendency to form blood clots

Answer 26

The most common cause in children is minimal change disease, causing over 90% of cases in children under 10. In minimal change disease, nephrotic syndrome occurs in isolation, without any clear underlying condition or pathology. There are a number of secondary causes of nephrotic syndrome, where it occurs due to an underlying condition. It can be secondary to intrinsic kidney disease: - Focal segmental glomerulosclerosis - Membranoproliferative glomerulonephritis It can also be secondary to an underlying systemic illness: - Henoch schonlein purpura (HSP) - Diabetes - Infection, such as HIV, hepatitis and malaria

Answer 27

Minimal change disease is the most common cause of nephrotic syndrome in children. It can occur in otherwise healthy children, without any clear risk factors or reason for developing the condition. It is not clear why it occurs in most cases. A renal biopsy and standard microscopy in minimal change disease is usually NOT able to detect any abnormality. Urinalysis (analysis of the urine) will show small molecular weight proteins and hyaline casts. Management of minimal change disease is with corticosteroids (i.e. prednisolone). The prognosis is good and most children make a full recovery, however it may reoccur.

Answer 28

Nephrotic syndrome should be managed by experienced paediatricians with input from renal specialists. General management is with: High dose steroids (i.e. prednisolone) Low salt diet Diuretics may be used to treat oedema Albumin infusions may be required in severe hypoalbuminaemia Antibiotic prophylaxis may be given in severe cases High dose steroids are given for 4 weeks and then gradually weaned over the next 8 weeks: 80% of children will respond to steroids, and are referred to as steroid sensitive 80% of steroid sensitive patients will relapse at some point and need further steroids Patients that struggle to wean steroids due to relapses are referred to as steroid dependant Patients that do not respond to steroids are referred to as steroid resistant In steroid resistant children, ACE inhibitors and immunosuppressants such as cyclosporine, tacrolimus or rituximab may be used.

Answer 29

- Hypovolaemia occurs as fluid leaks from the intravascular space into the interstitial space causing oedema and low blood pressure. - Thrombosis can occur because proteins that normally prevent blood clotting are lost in the kidneys, and because the liver responds to the low albumin by producing pro-thrombotic proteins. - Infection occurs as the kidneys leak immunoglobulins, weakening the capacity of the immune system to respond. This is exacerbated by treatment with medications that suppress the immune system, such as steroids. - Acute or chronic renal failure - Relapse

Answer 30

Nephritis refers to inflammation within the nephrons of the kidneys. It causes: - Reduction in kidney function - Haematuria: invisible or visible amounts of blood in the urine - Proteinuria: although less than in nephrotic syndrome The two most common causes of nephritis in children are post-streptococcal glomerulonephritis and IgA nephropathy (Berger’s disease).

Answer 31

Post-streptococcal glomerulonephritis occurs 1 – 3 weeks after a β-haemolytic streptococcus infection, such as tonsillitis caused by Streptococcus pyogenes. Immune complexes made up of streptococcal antigens, antibodies and complement proteins get stuck in the glomeruli of the kidney and cause inflammation. This inflammation leads to an acute deterioration in renal function, causing an acute kidney injury. Consider a diagnosis of post-streptococcal glomerulonephritis where there is evidence of recent tonsillitis caused by streptococcus. This could be a history of tonsillitis, positive throat swab results and anti-streptolysin antibody titres found on a blood test. Management is supportive and around 80% of patients will make a full recovery. In some cases patients can develop a progressive worsening of their renal function. They may need treatment with antihypertensive medications and diuretics if they develop complications such as hypertension and oedema.

Answer 32

IgA nephropathy is also known as Berger’s disease. This condition is related to Henoch-Schonlein Purpura, which is an IgA vasculitis. IgA deposits in the nephrons of the kidney causes inflammation (nephritis). When a renal biopsy is taken the histology will show “IgA deposits and glomerular mesangial proliferation”. It usually presents in teenagers or young adults. Management involves supportive treatment of the renal failure and immunosuppressant medications such as steroids and cyclophosphamide to slow the progression of the disease.

Answer 33

Haemolytic uraemic syndrome (HUS) involves thrombosis in small blood vessels throughout the body, usually triggered by Shiga toxins from either E. coli O157 or Shigella. It most often affects children following an episode of gastroenteritis. Antibiotics and anti-motility medication (e.g., loperamide) used to treat gastroenteritis caused by E. coli O157 or Shigella increase the risk of HUS. HUS leads to the classic triad of: - Microangiopathic haemolytic anaemia - Acute kidney injury - Thrombocytopenia (low platelets) The formation of blood clots consumes platelets, leading to thrombocytopenia. The blood flow through the kidney is affected by thrombi and damaged red blood cells, leading to acute kidney injury. Microangiopathic haemolytic anaemia (MAHA) involves the destruction of red blood cells (haemolysis) due to pathology in the small vessels (microangiopathy). Tiny blood clots (thrombi) partially obstruct the small blood vessels and churn the red blood cells as they pass through, causing them to rupture.

Answer 34

E. coli O157 and Shigella cause gastroenteritis. Diarrhoea is the first symptom, which turns bloody within 3 days. Around a week after the onset of diarrhoea, the features of HUS develop: Fever Abdominal pain Lethargy Pallor Reduced urine output (oliguria) Haematuria Hypertension Bruising Jaundice (due to haemolysis) Confusion

Answer 35

Stool culture is used to establish the causative organism. HUS is a medical emergency and requires hospital admission and supportive management with treatment of: Hypovolaemia (e.g., IV fluids) Hypertension Severe anaemia (e.g., blood transfusions) Severe renal failure (e.g., haemodialysis) It is self-limiting, and most patients fully recover with good supportive care.

Answer 36

Autosomal recessive polycystic kidney disease (ARPKD) presents in neonates and is usually picked up on antenatal ultrasound scans. It is the result of a mutation in the polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6. This gene codes for the fibrocystin/polyductin protein complex (FPC), which is responsible for the creation of tubules and the maintenance of healthy epithelial tissue in the kidneys, liver and pancreas.

Answer 37

The underlying pathology causes: - Cystic enlargement of the renal collecting ducts - Oligohydramnios, pulmonary hypoplasia and Potter syndrome - Congenital liver fibrosis ARPKD usually presents in the antenatal period with oligohydramnios and polycystic kidneys seen on antenatal scans. Oligohydramnios is a lack of amniotic fluid caused by reduced urine production by the fetus. A lack of amniotic fluid leads to Potter syndrome, which is characterised by dysmorphic features such as underdeveloped ear cartilage, low set ears, a flat nasal bridge and abnormalities of the skeleton. The oligohydramnios leads to underdeveloped fetal lungs (pulmonary hypoplasia), resulting in respiratory failure shortly after birth. Additionally, large cystic kidneys can take up so much space in the abdomen it becomes hard for the neonate to breath adequately. Patients may require renal dialysis within the first few days of life. Most patients develop end stage renal failure before reaching adulthood. Patients with polycystic kidney disease have a number of ongoing problems throughout life: - Liver failure due to liver fibrosis - Portal hypertension leading to oesophageal varices - Progressive renal failure - Hypertension due to renal failure - Chronic lung disease The prognosis is poor. Survival depends of very extensive interventions from a number of different specialties both in the neonatal period and throughout life. Around 1/3 will die in the neonatal period. Around 1/3 will survive to adulthood.

Answer 38

Multicystic dysplastic kidney (MCDK) is a separate condition to PKD, where one of the baby’s kidneys is made up of many cysts while the other kidney is normal. In rare cases it can be bilateral, which inevitably leads to death in infancy. MCDK is normally diagnosed on antenatal ultrasound scans. Usually the single healthy kidney is sufficient to lead a normal life. Often the cystic kidney will atrophy and disappear before 5 years of age. Having a single kidney can put the person at risk of urinary tract infections, hypertension and chronic kidney disease later in life. No treatment is required for MCDK. Followup renal ultrasound scans can be used to monitor the abnormal kidney. Prophylactic antibiotics are occasionally used to prevent urinary infections that may affect the working kidney.

Answer 39

A posterior urethral valve is where there is tissue at the proximal end of the urethra (closest to the bladder) that causes obstruction of urine output. It occurs in newborn boys. The obstruction to the outflow of urine creates a back pressure into the bladder, ureters and up to the kidneys, causing hydronephrosis. A restriction in the outflow of urine prevents the bladder from fully emptying, leading to a reservoir of urine that increases the risk of urinary tract infections. Presentation It can vary in severity. Mild cases may be asymptomatic or present with: Difficulty urinating Weak urinary stream Chronic urinary retention Palpable bladder Recurrent urinary tract infections Impaired kidney function Severe cases can cause obstruction to urine outflow in the developing fetus resulting in bilateral hydronephrosis and oligohydramnios (low amniotic fluid volume). The oligohydramnios leads to underdeveloped fetal lungs (pulmonary hypoplasia) with respiratory failure shortly after birth.

Answer 40

Investigations Severe cases may be picked up on antenatal scans as oligohydramnios and hydronephrosis. To investigate cases presenting after birth, for example young boys presenting with urinary tract infections: Abdominal ultrasound may show an enlarged, thickened bladder and bilateral hydronephrosis Micturating cystourethrogram (MCUG) shows the location of the extra urethral tissue and reflux of urine back into the bladder Cystoscopy involves a camera inserted into the urethra to get a detailed view of the extra tissue. Cystoscopy can be used to ablate or remove the extra tissue. Management Mild cases may simply be observed and monitored. If required a temporary urinary catheter can be inserted to bypass the valve whilst awaiting definitive management. Definitive management is by ablation or removal of the extra urethral tissue, usually during cystoscopy.

Answer 41

A hydrocele is a collection of fluid within the tunica vaginalis that surrounds the testes. The tunica vaginalis is a sealed pouch of membrane that surrounds the testes. Originally the tunica vaginalis is part of the peritoneal membrane, but during development of the fetus it becomes separated from the peritoneal membrane and remains in the scrotum, partially covering each testicle. Simple Hydrocele Simple hydroceles are common in newborn males. They occurs where fluid is trapped in the tunica vaginalis. Usually this fluid gets reabsorbed over time and the hydrocele disappears. Communicating Hydrocele Communicating hydroceles occur where the tunica vaginalis around the testicle is connected with the peritoneal cavity via a pathway called the processus vaginalis. This allows fluid to travel from the peritoneal cavity into the hydrocele, allowing the hydrocele to fluctuate in size.

Answer 42

Ultrasound is a useful investigation for confirming the diagnosis and excluding other causes. Simple hydroceles will usually resolve within 2 years without having any lasting negative effects. Parents can be reassured and followed up routinely. They may require surgery if they are associated with other problems, such as a hernia. Communicating hydroceles can be treated with a surgical operation to remove or ligate the connection between the peritoneal cavity and the hydrocele (the processus vaginalis).

Answer 43

Hypogonadotropic hypogonadism is where there is a deficiency of LH and FSH, leading to a deficiency of the sex hormones testosterone and oestrogen. LH and FSH are gonadotrophins. Since there are no gonadotrophins simulating the gonads, they do not respond by producing sex hormones (testosterone and oestrogen). Therefore, you get “hypogonadism” as a result of “hypogonadotropism”. A deficiency of LH and FSH is the result of abnormal functioning of the hypothalamus or pituitary gland. This could be due to: - Previous damage to the hypothalamus or pituitary, for example by radiotherapy or surgery for previous cancer - Growth hormone deficiency - Hypothyroidism - Hyperprolactinaemia (high prolactin) - Serious chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease) - Excessive exercise or dieting can delay the onset of menstruation in girls - Constitutional delay in growth and development is a temporary delay in growth and puberty without underlying physical pathology - Kallman syndrome

Answer 44

Hypergonadotropic hypogonadism is where the gonads fail to respond to stimulation from the gonadotrophins (LH and FSH). There is no negative feedback from the sex hormones (testosterone and oestrogen), therefore the anterior pituitary produces increasing amounts of LH and FSH to try harder to stimulate the gonads. Therefore, you get high gonadotrophins (“hypergonadotrophic”) and low sex hormones (“hypogonadism”). Hypergonadotrophic hypogonadism is the result of abnormal functioning of the gonads. This could be due to: - Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps) - Congenital absence of the testes or ovaries - Kleinfelter’s Syndrome (XXY) - Turner’s Syndrome (XO)

Answer 45

Severe combined immunodeficiency (SCID) is the most severe condition causing immunodeficiency. Children with SCID have almost no immunity to infections. It is a syndrome caused by a number of different genetic disorders that result in absent or dysfunctioning T and B cells. Presentation SCID will present in the first few months of life with: Persistent severe diarrhoea Failure to thrive Opportunistic infections that are more frequent or severe than in healthy children, for example severe and later fatal chickenpox, Pneumocystis jiroveci pneumonia and cytomegalovirus Unwell after live vaccinations such as the BCG, MMR and nasal flu vaccine Omenn syndrome

Answer 46

More than 50% of cases are caused by a mutations in the common gamma chain on the X chromosome that codes for interleukin receptors on T and B cells. This has X-linked recessive inheritance. There are many other gene mutations that can lead to SCID including: JAC3 gene mutations Mutations leading to adenosine deaminase deficiency

Answer 47

Physiologic anaemia of infancy causes most cases of anaemia in infancy. The other causes of anaemia in infants are: Anaemia of prematurity Blood loss Haemolysis Twin-twin transfusion, where blood is unequally distributed between twins that share a placenta Haemolysis is a common cause of anaemia in infancy. There are a number of causes of haemolysis in a neonate: Haemolytic disease of the newborn (ABO or rhesus incompatibility) Hereditary spherocytosis G6PD deficiency

Answer 48

Haemolytic disease of the newborn is a cause haemolysis (red blood cells breaking down) and jaundice in the neonate. It is caused by incompatibility between the rhesus antigens on the surface of the red blood cells of the mother and fetus. The rhesus antigens on the red blood cells vary between individual. This is different to the ABO blood group system. Within the rhesus group, there are many different types of antigens that can be present or absent depending on the person’s blood type. The most important antigen within the rhesus blood group system is the rhesus D antigen. When a woman that is rhesus D negative (does not have the rhesus D antigen) becomes pregnant, we have to consider the possibility that the fetus will be rhesus D positive (has the rhesus D antigen). It is likely at some point in the pregnancy the blood from the fetus will find a way into her bloodstream. When this happens, the fetal red blood cells display the rhesus D antigen. The mother’s immune system will recognise the rhesus D antigen as foreign and produce antibodies to the rhesus D antigen. The mother has then become sensitised to rhesus D antigens. Usually, this sensitisation process does not cause problems during the first pregnancy (unless the sensitisation happens early on, such as during antepartum haemorrhage). During subsequent pregnancies, the mothers anti-D antibodies can cross the placenta into the fetus. If that fetus is rhesus positive, these antibodies attach themselves to the red blood cells of the fetus and causes the immune system of the fetus to attack its own red blood cells. This leads to haemolysis, causing anaemia and high bilirubin levels. This leads to a condition called haemolytic disease of the newborn. A direct Coombs test (DCT) can be used to check for immune haemolytic anaemia. This will be positive in haemolytic disease of the newborn.

Answer 49

Iron travels around the blood as ferric ions (Fe3+) bound to a carrier protein called transferrin. Total iron binding capacity (TIBC) basically means the total space on the transferrin molecules for the iron to bind. Therefore, total iron binding capacity is directly related to the amount of transferrin in the blood. If you measure iron in the blood and then measure the total iron binding capacity of that blood, you can calculate the proportion of the transferrin molecules that are bound to iron. This is called the transferrin saturation. It is expressed as a percentage. The formula is: Transferrin Saturation = Serum Iron / Total Iron Binding Capacity Ferritin is the form that iron takes when it is deposited and stored in cells. Extra ferritin is released from cells when there is inflammation, such as with infection or cancer. If ferritin in the blood is low, this is highly suggestive of iron deficiency. High ferritin is difficult to interpret and is likely to be related to inflammation rather than iron overload. A patient with a normal ferritin can still have iron deficiency anaemia, particularly if they have reasons to have a raised ferritin, such as infection. Serum iron varies significantly throughout the day, with higher levels in the morning and after eating iron containing meals. On its own serum iron is not a very useful measure. Total iron binding capacity can be used as a marker for how much transferrin is in the blood. It is an easier test to perform than measuring transferrin. Both TIBC and transferrin levels increase in iron deficiency and decrease in iron overload. Transferrin saturation gives a good indication of the total iron in the body. In normal adults it is around 30%, however if there is less iron in the body, transferrin will be less saturated. When iron levels go up, transferrin will be more saturated. It can increase shortly after eating a meal rich in iron or taking iron supplements, so a fasting sample is better.

Answer 50

Iron overload occurs in thalassaemia as a result of the faulty creation of red blood cells, recurrent transfusions and increased absorption of iron in the gut in response to anaemia. Patients with thalassaemia have serum ferritin levels monitored to check for iron overload. Management of iron overload involves limiting transfusions and performing iron chelation. Iron overload in thalassaemia causes effects similar to haemochromatosis: Fatigue Liver cirrhosis Infertility Impotence Heart failure Arthritis Diabetes Osteoporosis and joint pain

Answer 51

Beta-thalassaemia is caused by defects in beta globin chains. The gene coding for this protein is on chromosome 11. The gene defect can either consist of abnormal copies that retain some function or deletion genes where there is no function in the beta globin protein at all. Based on the type of defect, beta-thalassamia can be split into three types: 1. Thalassaemia Minor Patients with beta thalassaemia minor are carriers of an abnormally functioning beta globin gene. They have one abnormal and one normal gene. Thalassaemia minor causes a mild microcytic anaemia and usually patients only require monitoring and no active treatment. 2. Thalassaemia Intermedia Patients with beta thalassaemia intermedia have two abnormal copies of the beta globin gene. This can be either two defective genes or one defective gene and one deletion gene. Thalassaemia intermedia causes a more significant microcytic anaemia. Patients require monitoring and occasional blood transfusions. When they require more transfusions, they may require iron chelation to prevent iron overload. 3. Thalassaemia Major Patients with beta thalassaemia major are homozygous for the deletion genes. They have no functioning beta globin genes at all. This is the most severe form and usually presents with severe anaemia and failure to thrive in early childhood. Thalassaemia major causes: Severe microcytic anaemia Splenomegaly Bone deformities Management involves regular transfusions, iron chelation and splenectomy. Bone marrow transplant can potentially be curative.

Answer 52

Hereditary spherocytosis is a condition where the red blood cells are sphere shaped, making them fragile and easily destroyed when passing through the spleen. It is the most common inherited haemolytic anaemia in northern Europeans. It is an autosomal dominant condition. Presentation Hereditary spherocytosis presents with: Jaundice Anaemia Gallstones Splenomegaly Patients can have episodes of haemolytic crisis, often triggered by infections, where the haemolysis, anaemia and jaundice is more significant. Patients with hereditary spherocytosis can develop aplastic crisis. During aplastic crisis there is increased anaemia, haemolysis and jaundice, without the normal response from the bone marrow of creating new red blood cells. Usually the bone marrow will respond to haemolysis by producing red blood cells faster, demonstrated by extra reticulocytes (immature red blood cells) in the blood. In aplastic crisis there is no reticulocyte response. This is often triggered by infection with parvovirus. ***Infection with parvovirus causing aplastic crisis is a classic exam features of hereditary spherocytosis. It is worth remembering this connection, as there are multiple ways examiners like to ask this. A patient with spherocytosis may present with anaemia and you could be asked to identify the causative infectious agent. Alternatively, someone affected by parvovirus could develop anaemia and jaundice and you may be asked the underlying diagnosis.

Answer 53

Treatment is with folate supplementation and splenectomy. Removal of the gallbladder (cholecystectomy) may be required if gallstones are a problem. Transfusions may be required during acute crises.

Answer 54

G6PD deficiency is a condition where there is a defect in the G6PD enzyme normally found in all cells in the body. It is more common in Mediterranean, Middle Eastern and African patients. It is inherited in an X linked recessive pattern, meaning it usually affects males, as they have only a single copy of the gene on their single X chromosome. It causes crises that are triggered by infections, medications or fava beans (broad beans). ***The key piece of knowledge for G6PD deficiency relates to triggers. In your exam look out for a patient that becomes jaundice and anaemic after eating broad beans, developing an infection or being treated with antimalarial medications. The underlying diagnosis might be G6PD deficiency. Pathophysiology The G6PD enzyme is responsible for helping protect cells from damage by reactive oxygen species (ROS). ROS are reactive molecules that contain oxygen, produced during normal cell metabolism and in higher quantities during stress on the cell. The G6PD enzyme is particularly important in red blood cells. A deficiency in G6PD makes cells more vulnerable to ROS, leading to haemolysis in red blood cells. Periods of increased stress, with a higher production of ROS, can lead to acute haemolytic anaemia.

Answer 55

Presentation G6PD often presents with neonatal jaundice. Other features of the condition are: Anaemia Intermittent jaundice, particularly in response to triggers Gallstones Splenomegaly Heinz bodies may be seen on a on blood film. Heinz bodies are blobs of denatured haemoglobin (“inclusions”) seen within the red blood cells. Diagnosis can be made by doing a G6PD enzyme assay. Management Patient should avoid triggers to acute haemolysis where possible. This includes avoiding fava beans and certain medications. Medications that trigger haemolysis and should be avoided include: Primaquine (an antimalarial) Ciprofloxacin Nitrofurantoin Trimethoprim Sulfonylureas (e.g gliclazide) Sulfasalazine and other sulphonamide drugs

Answer 56

Noonan syndrome is a genetic condition. There are a number of different genes that cause Noonan syndrome. The majority for cases are inherited in an autosomal dominant way. There is variation in the signs and symptoms of Noonan syndrome, depending on the underlying cause. Features Short stature Broad forehead Downward sloping eyes with ptosis Hypertelorism (wide space between the eyes) Prominent nasolabial folds Low set ears Webbed neck Widely spaced nipples Associated Conditions - Congenital heart disease, particularly pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD - Cryptorchidism (undescended testes) can lead to infertility. Fertility is normal in women. - Learning disability - Bleeding disorders - Lymphoedema - Increased risk of leukaemia and neuroblastoma

Answer 57

Marfan syndrome is an autosomal dominant condition affecting the gene responsible for creating fibrillin. Fibrillin is an important component of connective tissue. This means people with Marfan syndrome have features resulting from abnormal connective tissue. Features Tall stature Long neck Long limbs Long fingers (arachnodactyly) High arch palate Hypermobility Pectus carinatum or pectus excavatum Downward sloping palpable fissures There are two tests for arachnodactyly to remember: First, ask them to cross their thumb across their palm, if the thumb tip goes past the opposite edge of the hand this indicates arachnodactyly. Next ask them to wrap the thumb and fingers of one hand around the other wrist, if the thumb and fingers overlap this also indicates arachnodactyly.

Answer 58

Lens dislocation in the eye Joint dislocations and pain due to hypermobility Scoliosis of the spine Pneumothorax Gastro-oesophageal reflux Mitral valve prolapse (with regurgitation) Aortic valve prolapse (with regurgitation) Aortic aneurysms

Answer 59

The greatest risk is from the associated cardiac complications, particularly valve prolapse and aortic aneurysms. Where these complications occur they may require surgical correction. The aim of management is to minimise the blood pressure and heart rate to minimise the stress on the heart and the risk of complications developing. This is achieved by lifestyle changes, such as avoiding intense exercise and avoiding caffeine and other stimulants. Preventative medications such as beta blockers and angiotensin II receptor antagonists can also help reduce the risk of complications. Pregnancy has to be carefully considered, as it carries a significant risk of developing aortic aneurysms and associated complications. Physiotherapy can be helpful in strengthening joints and reducing symptoms arising from hypermobility. Genetic counselling is important in considering the implications of having children that may be affected by the condition. Patients are also regularly followed up and monitored for complications. This often involves yearly echocardiograms and review by an ophthalmologist.

Answer 60

William syndrome is caused by a deletion of genetic material on one copy of chromosome 7, resulting in the person only having a single copy of the genes on this deleted region (on the other chromosome 7). It usually the result of a random deletion around conception, rather than being inherited from an affected parent. Features Broad forehead Starburst eyes (a star-like pattern on the iris) Flattened nasal bridge Long philtrum Wide mouth with widely spaced teeth Small chin Very sociable trusting personality Mild learning disability Associated Conditions Supravalvular aortic stenosis (narrowing just above the aortic valve) Attention-deficit hyperactivity disorder Hypertension Hypercalcaemia

Answer 61

Angelman syndrome is a genetic condition caused by loss of function of the UBE3A gene, specifically the copy of the gene that is inherited from the mother. This can be caused by a deletion on chromosome 15, a specific mutation in this gene or where two copies of chromosome 15 are contributed by the father, with no copy from the mother. Features Delayed development and learning disability Severe delay or absence of speech development Coordination and balance problems (ataxia) Fascination with water Happy demeanour Inappropriate laughter Hand flapping Abnormal sleep patterns Epilepsy Attention-deficit hyperactivity disorder Dysmorphic features Microcephaly Fair skin, light hair and blue eyes Wide mouth with widely spaced teeth

Answer 62

Like many other genetic syndromes, there is no cure and management focuses on a multi-disciplinary team approach to managing individual problems and supporting the patient and carers holistically. Parental education Social services and support Educational support Physiotherapy Occupational therapy Psychology CAMHS Anti-epileptic medication where required

Answer 63

Osteomyelitis is an infection in the bone and bone marrow. This typically occurs in the metaphysis of the long bones. The most common bacteria is staphylococcus aureus. Chronic osteomyelitis is a deep seated, slow growing infection with slowly developing symptoms. Acute osteomyelitis presents more quickly with an acutely unwell child. The infection may be introduced directly into the bone, for example during an open fracture. Alternatively it may have travelled to the bone through the blood, after entering the body through another route, such as the skin or gums. Risk Factors Osteomyelitis is more common in boys and children under 10 years. There is often a risk factor that predisposes the child to developing osteomyelitis: Open bone fracture Orthopaedic surgery Immunocompromised Sickle cell anaemia HIV Tuberculosis

Answer 64

Osteomyelitis can present acutely with an unwell child, or more chronically with subtle features. Signs and symptoms are: Refusing to use the limb or weight bear Pain Swelling Tenderness They may be afebrile, or may have a low grade fever. Children with acute osteomyelitis may have a high fever, particularly if it has spread to the joint causing septic arthritis.

Answer 65

Investigations Xrays are often the initial investigation, but can be normal in osteomyelitis. MRI is the best imaging investigation for establishing a diagnosis. A bone scan is an alternative. Blood tests will show raised inflammatory markers (CRP and ESR) and white blood cells in response to the infection. Blood culture is important in establishing the causative organism. A bone marrow aspiration or bone biopsy with histology and culture may be necessary. Management Treatment requires extensive and prolonged antibiotic therapy. They may require surgery for drainage and debridement of the infected bone.

Answer 66

Osteosarcoma is a type of bone cancer. This usually presents in adolescents and younger adults aged 10 – 20 years. The most common bone to be affected is the femur. Other common sites are the tibia and humerus. Presentation The main presenting feature is persistent bone pain, particularly worse at night time. This may disturb or wake them from sleep. Other symptoms that may be present include bone swelling, a palpable mass and restricted joint movements.

Answer 67

NICE guidelines recommend a very urgent direct access xray within 48 hours for children presenting with unexplained bone pain or swelling. If the xray suggests a possible sarcoma they need very urgent specialist assessment within 48 hours. Xrays show a poorly defined lesion in the bone, with destruction of the normal bone and a “fluffy” appearance. There will be a periosteal reaction (irritation of the lining of the bone) that is classically described as a “sun-burst” appearance. There can an associated soft tissue mass. Blood tests may show a raised alkaline phosphatase (ALP). Further investigations is used to better define the lesion and stage the cancer: CT scan MRI scan Bone scan PET scan Bone biopsy

Answer 68

Management involves surgical resection of the lesion, often with a limb amputation. Adjuvant chemotherapy is used alongside surgery to improve outcomes. They will require support and input from the multidisciplinary team in addition to treatment of the tumour: Paediatric oncologists and surgeons Specialist nurses Physiotherapy Occupational therapy Psychology Dietician Prosthetics and orthotics Social services The main complications are pathological bone fractures and metastasis.

Answer 69

Talipes is a fixed abnormal ankle position that presents at birth. It is also known as clubfoot. It can occur spontaneously or be associated with other syndromes. It is usually identified at birth or during the newborn examination. Talipes equinovarus describes the ankle in plantar flexion and supination. Talipes calcaneovalgus describes the ankle in dorsiflexion and pronation. Talipes is treated with the “Ponseti method” with good results. Surgery may be required if the Ponseti method fails or cannot be used.

Answer 70

The Ponseti method is a way of treating talipes without surgery. It is usually very successful. Treatment is started almost immediately after birth. It is performed by a properly trained therapist. The foot is manipulated towards a normal position and a cast is applied to hold it in position. This is repeated over and over until the foot is in the correct position. At some point an achilles tenotomy to release tension in the achilles tendon is performed, often in clinic. After treatment with the cast is finished a brace is used to hold the feet in the correct position when not walking until the child is around 4 years old. This brace is sometimes referred to as “boots and bars”.

Answer 71

Osteogenesis imperfecta is a genetic condition that results in brittle bones that are prone to fractures. It is also knowns as brittle bone syndrome. It is caused by a range of genetic mutations that affect the formation of collagen. Collagen is a protein that is essential is maintaining the structure and function of bone, as well as skin, tendons and other connective tissues. There are 8 types of osteogenesis imperfecta depending on the underlying genetic mutation, and they vary in their severity. Presentation Osteogenesis imperfecta presents with recurrent and inappropriate fractures. There are several associated features: Hypermobility Blue / grey sclera (the “whites” of the eyes) Triangular face Short stature Deafness from early adulthood Dental problems, particularly with formation of teeth Bone deformities, such as bowed legs and scoliosis Joint and bone pain

Answer 72

Osteogenesis imperfecta is a clinical diagnosis. Xrays can be helpful in diagnosing fractures and bone deformities. Genetic testing is possible but not always done routinely. The underlying genetic condition cannot be cured. Medical treatments include: Bisphosphates to increase bone density Vitamin D supplementation to prevent deficiency Management is done by the multidisciplinary team, with: Physiotherapy and occupational therapy to maximise strength and function Paediatricians for medial treatment and follow up Orthopaedic surgeons to manage fractures Specialist nurses for advice and support Social workers for social and financial support

Answer 73

Henoch-Schonlein Purpura (HSP) is an IgA vasculitis that presents with a purpuric rash affecting the lower limbs and buttocks in children. Inflammation occurs in the affected organs due to IgA deposits in the blood vessels. It affects the skin, kidneys and gastro-intestinal tract. The condition is often triggered by an upper airway infection or gastroenteritis. It is most common in children under the age of 10 years. The four classic features are: Purpura (100%), Joint pain (75%), Abdominal pain (50%) Renal involvement (50%) The rash is caused by inflammation and leaking of blood from small blood vessels under the skin, forming purpura. Purpura are red-purple lumps under the skin containing blood.

Answer 74

Rheumatic fever is caused by group A beta-haemolytic streptococcal, typically streptococcus pyogenes causing tonsillitis. The immune system creates antibodies to fight the infection. These antibodies not only target the bacteria, but also match antigens on the cells of the person’s body, for example the muscle cells in the myocardium in the heart. This results in a type 2 hypersensitivity reaction, where the immune system begins attacking cells throughout the body. This process is usually delayed 2 – 4 weeks after the initial infection.

Answer 75

Hypoxic ischaemic encephalopathy (HIE) occurs in neonates as a result of hypoxia during birth. Hypoxia is a lack of oxygen, ischaemia refers to a restriction in blood flow to the brain and encephalopathy refers to malfunctioning of the brain. Some hypoxia is normal during birth, however prolonged or severe hypoxia leads to ischaemic brain damage. HIE can lead to permanent damage to the brain, causing cerebral palsy. Severe HIE can result in death. Suspected HIE in neonates when there are events that could lead to hypoxia during the perinatal or intrapartum period, acidosis (pH < 7) on the umbilical artery blood gas, poor Apgar scores, features of mild, moderate or severe HIE (see below) or evidence of multi organ failure. Causes of HIE Anything that leads to asphyxia (deprivation of oxygen) to the brain can cause HIE. For example: Maternal shock Intrapartum haemorrhage Prolapsed cord, causing compression of the cord during birth Nuchal cord, where the cord is wrapped around the neck of the baby

Answer 76

Management will be coordinated by specialists in neonatology, on the neonatal unit. This involves supportive care with neonatal resuscitation and ongoing optimal ventilation, circulatory support, nutrition, acid base balance and treatment of seizures. Therapeutic hypothermia is an option in certain circumstances to help protect the brain from hypoxic injury. Children will need to be followed up by a paediatrician and the multidisciplinary team to assess their development and support any lasting disability. Therapeutic Hypothermia Babies near or at term considered to have HIE can benefit from therapeutic hypothermia. Therapeutic hypothermia involves actively cooling the core temperature of the baby according to a strict protocol. The baby is transferred to neonatal ICU and actively cooled using cooling blankets and a cooling hat. The temperature is carefully monitored with a target of between 33 and 34°C, measured using a rectal probe. This is continued for 72 hours, after which the baby is gradually warmed to a normal temperature over 6 hours. The intention of therapeutic hypothermia is to reduce the inflammation and neurone loss after the acute hypoxic injury. It reduces the risk of cerebral palsy, developmental delay, learning disability, blindness and death.

Answer 77

Kernicterus is a type of brain damage caused by excessive bilirubin levels. It is the main reason we treat neonatal jaundice to keep bilirubin levels below certain thresholds. Bilirubin can cross the blood-brain barrier. Excessive bilirubin causes direct damage to the central nervous system. Kernicterus presents with a less responsive, floppy, drowsy baby with poor feeding. The damage to the nervous system is permeant, causing cerebral palsy, learning disability and deafness. Kernicterus is now rare due to effective treatment of jaundice.

Answer 78

Babies that are breastfed are more likely to have neonatal jaundice. There are several potential reasons for this. Components of breast milk inhibit the ability of the liver to process the bilirubin. Breastfed babies are more likely to become dehydrated if not feeding adequately. Inadequate breastfeeding may lead to slow passage of stools, increasing absorption of bilirubin in the intestines. Breastfeeding should still be encouraged, as the benefits of breastfeeding outweigh the risks of breast milk jaundice. Mothers may need extra support and advice to ensure adequate breastfeeding.

Answer 79

Haemolytic disease of the newborn is a cause of haemolysis (red blood cells breaking down) and jaundice in the neonate. It is caused by incompatibility between the rhesus antigens on the surface of the red blood cells of the mother and fetus. The rhesus antigens on the red blood cells vary between individual. This is different to the ABO blood group system. Within the rhesus group, there are many different types of antigens that can be present or absent depending on the persons blood type. The most important antigen within the rhesus blood group system is the rhesus D antigen. When a woman that is rhesus D negative (does not have the rhesus D antigen) becomes pregnant, we have to consider the possibility that her child will be rhesus D positive (has the rhesus D antigen). It is likely at some point in the pregnancy the blood from the baby will find a way into her bloodstream. When this happens, the baby’s red blood cells display the rhesus D antigen. The mother’s immune system will recognise this rhesus D antigen as foreign and produce antibodies to the rhesus D antigen. The mother has then become sensitised to rhesus D antigens. Usually, this sensitisation process does not cause problems during the first pregnancy (unless the sensitisation happens early on, such as during antepartum haemorrhage). During subsequent pregnancies, the mother’s anti-D antibodies can cross the placenta into the fetus. If that fetus is rhesus positive, these antibodies attach themselves to the red blood cells of the fetus and causes the immune system of the fetus to attack their own red blood cells. This leads to haemolysis, causing anaemia and high bilirubin levels. This leads to a condition called haemolytic disease of the newborn.

Answer 80

Phototherapy converts unconjugated bilirubin into isomers that can be excreted in the bile and urine without requiring conjugation in the liver. Phototherapy involves removing clothing down to the nappy to expose the skin and eye patches to protect the eyes. Blue light is the best at breaking down bilirubin. A light-box shines blue light on the baby’s skin. Little or no UV light is used. Double phototherapy involves two light-boxes. Bilirubin is closely monitored during treatment. Once phototherapy is complete, a rebound bilirubin should be measured 12 – 18 hours after stopping to ensure the levels do not rise about the treatment threshold again.

Answer 81

There is a dramatic improvement in prognosis with each additional week of gestation, particularly in very premature babies. In women with a history of preterm birth or an ultrasound demonstrating a cervical length of 25mm or less before 24 weeks gestation there are two options of trying to delay birth: Prophylactic vaginal progesterone: putting a progesterone suppository in the vagina to discourage labour Prophylactic cervical cerclage: putting a suture in the cervix to hold it closed Where preterm labour is suspected or confirmed there are several options for improving the outcomes: - Tocolysis with nifedipine: nifedipine is a calcium channel blocker that suppresses labour - Maternal corticosteroids: can be offered before 35 weeks gestation to reduce neonatal morbidity and mortality - IV Magnesium sulphate: can be offered before 34 weeks gestation and helps protect the baby’s brain - Delayed cord clamping or cord milking: can increase the circulating blood volume and haemoglobin in the baby

Answer 82

Retinopathy of prematurity is a condition affecting preterm and low birth weight babies. It typically affects babies born before 32 weeks gestation. Abnormal development of the blood vessels in the retina can lead to scarring, retinal detachment and blindness. Treatment can prevent blindness, which is why screening is so important. Pathophysiology Retinal blood vessel development starts at around 16 weeks and is complete by 37 – 40 weeks gestation. The blood vessels grow from the middle of the retina to the outer area. This vessel formation is stimulated by hypoxia, which is a normal condition in the retina during pregnancy. When the retina is exposed to higher oxygen concentrations in a preterm baby, particularly with supplementary oxygen during medical care, the stimulant for normal blood vessel development is removed. When the hypoxic environment recurs, the retina responds by producing excessive blood vessels (neovascularisation), as well as scar tissue. These abnormal blood vessels may regress and leave the retina without a blood supply. The scar tissue may cause retinal detachment.

Answer 83

Treatment involves systematically targeting areas of the retina to stop new blood vessels developing. First line is transpupillary laser photocoagulation to halt and reverse neovascularisation. Other options are cryotherapy and injections of intravitreal VEGF inhibitors. Surgery may be required if retinal detachment occurs.

Answer 84

Mothers that are known to use substances should have an alert on their notes so that when they give birth the neonate can have extra monitoring and management of NAS. Babies are kept in hospital with monitoring on a NAS chart for at least 3 days (48 hours for SSRI antidepressants) to monitor for withdrawal symptoms. A urine sample can be collected from the neonate to test for substances. The neonate should be supported in a quiet and dim environment with gentle handling and comforting. Medical treatment options for moderate to severe symptoms are: Oral morphine sulphate for opiate withdrawal Oral phenobarbitone for non-opiate withdrawal Neonates should be gradually weaned off oral treatment. SSRI withdrawal does not typically require or benefit from medical treatment. Additional considerations: Testing for hepatitis B and C and HIV Safeguarding and social service involvement Safety-net advice for readmission if withdrawal signs and symptoms occur Follow up from paediatrics, social services, health visitors and the GP Support for the mother to stop using substances Check the suitability for breastfeeding in mothers with substance use

Answer 85

Congenital cytomegalovirus (CMV) infection occurs due to maternal CMV infection during pregnancy. The virus is mostly spread via the infected saliva or urine of asymptomatic children. Most cases of CMV in pregnancy do not cause congenital CMV. The features of congenital CMV are: Fetal growth restriction Microcephaly Hearing loss Vision loss Learning disability Seizures

Answer 86

Infection with the Toxoplasma gondii parasite is usually asymptomatic. It is primarily spread by contamination with faeces from a cat that is a host of the parasite. When infection occurs during pregnancy it can lead to congenital toxoplasmosis. This risk is higher later in the pregnancy. There is a classic triad of features in congenital toxoplasmosis: Intracranial calcification Hydrocephalus Chorioretinitis

Answer 87

The zika virus is spread by host Aedes mosquitos in areas of the world where the virus is prevalent. It can also be spread by sex with someone infected with the virus. It can cause no symptoms, minimal symptoms or a mild flu like illness. In pregnancy it can lead to congenital Zika syndrome, which involves: Microcephaly Fetal growth restriction Other intracranial abnormalities, such as ventriculomegaly and cerebellar atrophy Pregnant women that may have contracted the Zika virus should be tested for the viral PCR and antibodies to the Zika virus. Women with a positive result should be referred to fetal medicine to monitor the pregnancy. There is no treatment for the virus.

Answer 88

Neonatal Thyrotoxicosis is usually the result of thyroid stimulating antibodies passing from the mother to the fetus towards the end of pregnancy. Thyroid Receptor Antibodies (TRAbs) occur in women with Graves’ disease (GD) and are usually the cause of this condition. The maternal TRAbs freely cross the placenta particularly towards the second half of pregnancy. The thyroid in the fetus is fully developed by 7 weeks gestation with thyroid hormone synthesis beginning at 10 to 12 weeks gestation. By 25 weeks gestation the thyroid is almost fully functional so transfer of TRAbs to the fetus can cause in utero and/or postnatal hyperthyroidism. Much more rarely hyperthyroidism may occur in infants born to mothers with Hashimoto’s thyroiditis or where there are activating mutations of the Thyroid Stimulating Hormone (TSH) receptor. These causes are too uncommon to warrant routine screening of infants unless there is a family history of hyperthyroidism in a previous infant.

Answer 89

Monotherapy with carbimazole may be sufficient in an asymptomatic infant with biochemical evidence of hypoerthyroidism. However in a symptomatic infant concurrent therapy with propranolol and/or iodine may be required. 1. Carbimazole - until euthyroid. Higher doses may be required if the infant is in thyrotoxic crisis. Carbimazole reduces the uptake of iodine by the thyroid and blocks thyroid hormone synthesis by preventing the organification and coupling of iodothyronine residues. It does not inhibit the release of pre-formed thyroid hormones and may take a number of weeks to render the infant euthyroid. Agranulocytosis may occur during treatment with Carbimazole. 2. Propranolol - helps control symptoms caused by adrenergic stimulation. In addition, it inhibits deiodination of T4 to T3. 3. Lugol’s Iodine solution (Aqueous Iodine Oral Solution) – used in infants with haemodynamic instabillity. It helps rapidly block thyroid hormone synthesis, blocks thyroid hormone release and promptly reduces free thyroid hormone concentrations. The effects are temporary and co-administration of carbimazole is essential.

Answer 90

L. monocytogenes most often causes an influenza-like illness. More severe infection in risk groups may lead to stillbirth, septicaemia or meningoencephalitis. Infection of a pregnant woman early in pregnancy often leads to miscarriage. Maternal infection during pregnancy may be asymptomatic or include fever, myalgia, headache, sore throat, cough, vomiting, diarrhoea and vaginitis. The organism may be transmitted across the placenta. Infections in late pregnancy may lead to stillbirth or death of the infant within a few hours of birth. About half of infected infants at or near term will die. Infants with listeriosis may present in the first few days of life with poor feeding, lethargy, jaundice, vomiting, respiratory distress, skin rash and shock. Infants usually have pneumonia. The death rate is very high

Answer 91

Most cases of non-invasive listeriosis in healthy adults and older children only require symptomatic treatment - eg, treatment for gastroenteritis. Amoxicillin and ampicillin are used to treat more severe infection and infection in pregnant women. Invasive listeriosis (meningitis or septicaemia): intravenous amoxicillin/ampicillin plus gentamicin for 21 days (gentamicin may be stopped after seven days). Meningoencephalitis and endocarditis require a longer duration of treatment and combinations of antimicrobial therapy.

Answer 92

Children presenting in the first few months of life are at the highest risk of strangulation and the hernia should be repaired urgently. Children over 1 year of age are at lower risk and surgery may be performed electively. For paediatric hernias a herniotomy without implantation of mesh is sufficient. Most cases are performed as day cases, neonates and premature infants are kept in hospital overnight as there is a recognised increased risk of post operative apnoea.

Answer 93

Kwashiorkor is one of the two main types of severe protein-energy undernutrition. People with kwashiorkor are especially deficient in protein, as well as some key micronutrients. Severe protein deficiency causes fluid retention in the tissues (edema), which distinguishes kwashiorkor from other forms of malnutrition. People with kwashiorkor may look emaciated in their limbs but swollen in their hands and feet, face and belly. The distended abdomen typical of kwashiorkor can be misleading in people who are actually critically malnourished. - Edema (swelling with fluid, especially in the ankles and feet). - Bloated stomach with ascites (a build-up of fluid in the abdominal cavity). - Dry, brittle hair, hair loss and loss of pigment in hair. - Dermatitis — dry, peeling skin, scaly patches or red patches. - Enlarged liver, a symptom of fatty liver disease. - Depleted muscle mass but retained subcutaneous fat (under the skin). - Dehydration. - Loss of appetite (anorexia). - Irritability and fatigue.

Answer 94

1. Treat and prevent hypoglycaemia 2. Treat and prevent hypothermia 3. Treat and prevent dehydration 4. Correct electrolyte imbalances 5. Treat and prevent infection 6. Correct micronutrient deficiencies 7. Start cautious feeding 8. Achieve catch up growth 9. Provide sensory stimulation and emotional support 10. Prepare for follow up after recovery

Answer 95

Marasmus is a severe form of malnutrition — specifically, protein-energy undernutrition. It results from an overall lack of calories. Marasmus is a deficiency of all macronutrients: carbohydrates, fats, and protein. If you have marasmus, you lack the fuel necessary to maintain normal body functions. People with marasmus are visibly depleted, severely underweight and emaciated. Children may be stunted in size and development. Prolonged marasmus leads to starvation. Visible wasting of fat and muscle. Prominent skeleton. Head appears large for the body. Face may appear old and wizened. Dry, loose skin (skin atrophy). Dry, brittle hair or hair loss. Sunken fontanelles in infants. Lethargy, apathy and weakness. Weight loss of more than 40%. BMI below 16.

Answer 96

are red or pink patches, often on a baby's eyelids, head or neck are very common look red or pink on white, brown and black skin are easier to see when a baby cries usually fade by the age of 2 when on the forehead or eyelids can take longer to fade when on the back of the head or neck

Answer 97

are blood vessels that form a raised red lump on the skin appear soon after birth usually look red on white, brown and black skin are more common in girls, premature babies (born before 37 weeks), low birthweight babies, and multiple births, such as twins get bigger for the first 6 to 12 months, and then shrink and disappear by the age of 7 sometimes appear under the skin, making it look blue or purple may need treatment if they affect vision, breathing, or feeding

Answer 98

are red, purple or dark marks and usually on the face and neck are present from birth look like very dark patches on brown or black skin usually affect 1 side of the body, but can affect both can sometimes be made lighter using laser treatment (it's most effective on young children) can become darker and lumpier if not treated can be a sign of Sturge-Weber syndrome and Klippel-Trenaunay syndrome, or macrocephaly-capillary malformation, but this is rare

Answer 99

are light or dark brown patches that can be anywhere on the body are common, with many children often having 1 or 2 look darker on brown or black skin can be different sizes and shapes may be a sign of neurofibromatosis type 1 if a child has 6 or more spots

Answer 100

can look blue-grey on the skin like a bruise are often on the lower back, bottom, arms or legs are there from birth are most common on babies with brown or black skin do not need treating and will usually go away by the age of 4 are not a sign of a health condition If your baby is born with a blue-grey spot it should be recorded on their medical record.

Answer 101

are brown or black moles caused by an overgrowth of pigment cells in the skin look darker on brown or black skin can become darker, raised and hairy, particularly during puberty may develop into skin cancer if they're large (the risk increases the larger they are) do not need to be treated unless there's a risk of skin cancer

Answer 102

Corynebacterium diphtheriae is a Gram-positive, aerobic, non-motile, rod-shaped bacterium. Toxin production occurs only when the bacillus is infected by viruses (corynebacteriophages) containing the tox gene. Diphtheria toxin inhibits cellular protein synthesis. Toxin production leads to local tissue destruction and the formation of the classical fibrinous pseudomembrane, usually on the respiratory mucosa. Diphtheria toxin can also be absorbed into the bloodstream, causing distant organ dysfunction, including polyneuropathy, nephritis, and myocarditis. Non-toxinogenic C. diphtheriae causes a mild pharyngitis. Toxinogenic C. diphtheriae also commonly affects the pharynx and tonsils. The onset of pharyngitis is gradual and symptoms may be similar to more common upper respiratory tract infections initially. Often diphtheria presents with a nasal discharge that is initially watery and becomes purulent and blood-stained. The nostril can be sore or crusted with the pseudomembrane sometimes visible within the nostril. In diphtheria of the upper respiratory tract, there is a membranous pharyngitis (often referred to as a pseudomembrane) with fever, enlarged anterior cervical lymph nodes and oedema of soft tissues giving a 'bull neck' appearance. The pseudomembrane may cause respiratory obstruction. Swallowing may be made difficult by unilateral or bilateral paralysis of the muscles of the palate.

Answer 103

Diphtheria anti-toxin (produced from horse serum) should be considered urgently for probable and confirmed cases of toxinogenic diphtheria Antibiotics are given to eliminate the organism and prevent spread. The antibiotics of choice are usually erythromycin, azithromycin, clarithromycin or penicillin. Patients should be immunised in the convalescent stage because clinical infection does not always induce adequate levels of antitoxin. They should receive a complete course or a reinforcing dose according to their age and immunisation history. Completely immunised individuals should receive a single reinforcing dose of a diphtheria-containing vaccine according to their age. All contacts of either a person with diphtheria or a carrier should be given antibiotic prophylaxis. This is usually with erythromycin or penicillin.

Answer 104

Poliomyelitis (polio) is caused by infection with the poliovirus, an enterovirus. The virus may invade lymphatic tissue and spread into the bloodstream. It can be neurotropic, destroying motor neurons, particularly in the anterior horn of the spinal cord and brain stem. This causes flaccid paralysis which may be spinal or bulbar. Poliomyelitis causes a spectrum of illness from asymptomatic (most infections) to a meningitic or paralytic acute illness; the paralytic form can cause permanent muscle weakness. Acute polio infection is now rare in most countries following immunisation programmes. Polio survivors may have residual disability or post-polio syndrome. With acute poliovirus infection, there are various clinical scenarios: 1. No symptoms, or flu-like illness ('abortive infection') - 95%. 2, Non-paralytic polio (flu-like symptoms plus aseptic meningitis) - about 4%. 3. Paralytic (with variable severity and recovery) - about 0.5%. Clinical features are: Initially, a flu-like illness, then symptoms subside for a few days. Symptoms then recur with myalgia, severe muscle spasms and meningism for a few days. Next there is asymmetrical, flaccid motor paralysis, predominantly lower-limb. This maximises at 48 hours. There is also a bulbar form of paralysis (about 10-25% of paralytic cases). This may cause autonomic features - eg, hyper/hypotension, respiratory failure, and bulbar symptoms, such as dysphagia and dysphonia. 4. Rarely, acute encephalitis can occur from poliovirus.

Answer 105

Staphylococcal toxic shock syndrome describes a severe systemic reaction to staphylococcal exotoxins, the TSST-1 superantigen toxin. It came to prominence in the early 1980s following a series of cases related to infected tampons. Centers for Disease Control and Prevention diagnostic criteria - fever: temperature > 38.9ºC - hypotension: systolic blood pressure < 90 mmHg - diffuse erythematous rash - desquamation of rash, especially of the palms and soles - involvement of three or more organ systems: e.g. gastrointestinal (diarrhoea and vomiting), mucous membrane erythema, renal failure, hepatitis, thrombocytopenia, CNS involvement (e.g. confusion)

Answer 106

Some children eat non–edible items, and the medical term for this is pica. What would you usually expect for a young child? Children below the age of 18 months explore objects by mouthing and sometimes swallowing, and therefore pica is not diagnosed below the age of 2 years. Common items children with pica eat can include: sand; chalk; playdoh; clothing; faeces; hair and paper. Why do some children have pica? It is common in certain groups of the population and occurs more frequently in children with learning difficulties. It is associated with Autism Spectrum Disorder. Nutritional factors such as low levels of iron or zinc may be linked. Some children may get a pleasurable feeling or sensory stimulation from eating non-food items. What are the problems that can occur? Most ingested items pass through the gut with no problem, but occasionally it can cause significant health problems causing blockages in the gut, poisoning, constipation, infections, choking, nutritional and dental problems.

Answer 107

It is the most common of a group of relatively rare diseases known as the inherited bone marrow failure syndromes It is inherited in an autosomal recessive fashion apart from one gene (FANCB) which is found on the X chromosome The proteins are believed to be integral to mechanisms that repair damage to DNA, by removing faulty interstrand cross links. This results in the bases of opposing DNA strands being covalently linked, inhibiting critical cellular processes such as transcription and replication. The condition tends to cause: - Congenital dysmorphic features. - Pancytopenic bone marrow failure. - Susceptibility to cancer: *Acute myeloid leukaemia (AML). *Solid tumours - head and neck squamous cell carcinoma (HNSCC) and gynaecological cancers, particularly vulval and vaginal.

Answer 108

* The most common primary brain tumour in children * Histology: Rosenthal fibres (corkscrew eosinophilic bundle)

Answer 109

* A medulloblastoma is an aggressive paediatric brain tumour that arises within the infratentorial compartment. It spreads through the CSF system. Treatment is surgical resection and chemotherapy. * Histology: Small, blue cells. Rosette pattern of cells with many mitotic figures

Answer 110

* Most common paediatric supratentorial tumour * A craniopharyngioma is a solid/cystic tumour of the sellar region that is derived from the remnants of Rathke’s pouch. It is common in children, but can present in adults also. It may present with hormonal disturbance, symptoms of hydrocephalus or bitemporal hemianopia. * Histology: Derived from remnants of Rathke pouch * Investigation requires pituitary blood profile and MRI. Treatment is typically surgical with or without postoperative radiotherapy.

Answer 111

Neuroblastoma is one of the top five causes of cancer in children, accounting for around 7-8% of childhood malignancies. The tumour arises from neural crest tissue of the adrenal medulla (the most common site) and sympathetic nervous system. Median age of onset is around 20 months Features abdominal mass pallor, weight loss bone pain, limp hepatomegaly paraplegia proptosis

Answer 112

Consists of curvature of the spine in the coronal plane Divisible into structural and non structural, the latter being commonest in adolescent females who develop minor postural changes only. Postural scoliosis will typically disappear on manoeuvres such as bending forwards Structural scoliosis affects > 1 vertebral body and is divisible into idiopathic, congential and neuromuscular in origin. It is not correctable by alterations in posture Within structural scoliosis, idiopathic is the most common type Severe, or progressive structural disease is often managed surgically with bilateral rod stabilisation of the spine

Answer 113

Fever (during previous 24 hours) Purulence (pus on tonsils) Attend rapidly (within 3 days after onset of symptoms) Severely Inflamed tonsils No cough or coryza (inflammation of mucus membranes in the nose) Each of the FeverPAIN criteria score 1 point (maximum score of 5). Higher scores suggest more severe symptoms and likely bacterial (streptococcal) cause. A score of 0 or 1 is thought to be associated with a 13 to 18% likelihood of isolating streptococcus. A score of 2 or 3 is thought to be associated with a 34 to 40% likelihood of isolating streptococcus. A score of 4 or 5 is thought to be associated with a 62 to 65% likelihood of isolating streptococcus.

Answer 114

For a child (>28 days of age), first line maintenance fluid is usually isotonic crystalloids + 5% glucose (e.g. 0.9% sodium chloride + 5% glucose). Term neonate (<28 days of age) The choice of fluid depends on the clinical situation: - No critical illness:10% dextrose +/- additives - Critical illness (e.g. infantile respiratory distress syndrome, meconium aspiration): seek expert advice (use fluids with no/minimal sodium initially)

Answer 115

Replacement fluids should be adjusted according to existing electrolyte excess or deficit and any anticipated ongoing losses (e.g. diarrhoea). Use isotonic crystalloid that contains sodium with added glucose (e.g. 0.9% sodium chloride + 5% glucose). If there are ongoing losses (e.g. diarrhoea, vomiting) supplement with potassium (e.g. 10 mmol/L). The U&Es and plasma glucose should be monitored at least every 24 hours, or more frequently if there are electrolyte abnormalities. Replacement may be rapid in most cases of gastroenteritis (although usually this is best achieved by oral or nasogastric fluids), but should be slower in diabetic ketoacidosis and meningitis, and much slower in states of hypernatraemia (aim to rehydrate over 48 hours, the serum sodium should not fall by >1mmol/litre/hour).

Answer 116

Fluid deficit (mL) = % dehydration x weight (kg) x 10 eg A child who weighs 12kg is 5% dehydrated 5% dehydration x 12 x 10 = 600 mL

Answer 117

Glucose-free balanced crystalloids (e.g. Hartmann’s solution) are recommended as initial resuscitation fluids. Boluses of fluid are required if the patient is shocked or haemodynamically compromised. The standard fluid for resuscitation is 0.9% sodium chloride with no additives via intravenous (IV) or intraosseous (IO) access (if IV access is not possible) in a standard bolus of 10 mL/kg over <10 minutes.

Answer 118

1. Resus Airway +/- NG tube Breathing 100% O2 Circulation Resuscitation - 10mL/kg fluid - Repeat until circulation restored - By 40mL/kg (eg given 3 boluses) discuss with senior doctor and consider inotropes 2. Intravenous therapy - Calculate fluid requirements: - Use fluid with 40 mmol/L potassium (check serum K+ in normal range and urine output first) - Deficit should be replaced over 48 hours alongside appropriate maintenance fluids - Start insulin at 0.05 or 0.1 Units/kg/hour 1-2 hours after starting fluids 3. Observations - Hourly blood glucose - 1-2 hourly blood ketones - Hourly neuro obs and fluid balance - Check electrolytes at 2 hours, then 4 hourly IF ACIDOSIS Management of Persisting Acidosis - Re-evalutate fluid balance - may require further resus fluid - Check insulin rate and running properly - Consider sepsis and other differentials as per care pathway - Consider restarting protocol IF CEREBRAL OEDEMA Management of Cerebral Oedema - Give 5mL/kg 2.7% Sodium Chloride OR 20% Mannitol 2.5 - 5 mL/kg - Call senior staff - Restrict IV fluids by 50% - Refer to care pathway for further actions

Conditions Flashcards

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