Sama Mohamed

Vesicoureteral reflux This is the backflow of urine from the bladder into the ureter, which is divided into 2 types. – The backflow of urine predisposes children to recurrent infections which can later lead to renal scarring. – If left untreated, it is a risk factor for later developing progressive chronic kidney disease and hypertension   Primary VUR This is the most common type, which occurs due to a congenital defect in the vesicoureteral junction – This defect causes the ureters to enter the bladder in a more perpendicular fashion – This reduces the length of the ureter in the

These conditions lead to the mixing of deoxygenated blood from the right side of the circulation and oxygenated blood in the left side of the circulation. – This leads to cyanosis, which can be divided into two types:   i) Peripheral cyanosis: – This occurs in the extremities such as feet and hands, is very common in the first 24 hours of life – It can also occur when the child is crying or unwell from any cause, and so is less serious   ii) Central cyanosis: – This is seen when the concentration of reduced haemoglobin in the blood

A premature infant is defined as a baby that is born alive before 37 weeks, which can be split into categories. – Antenatally, mothers are given magnesium sulphate (neuroprotective) and steroids to stimulate lung maturation – Extremely preterm = <28 weeks (these need transfer to tertiary centre) – Very preterm = 28 – 32 weeks – Moderate – Late preterm = 32-37 weeks   Premature babies are expected to have delayed developmental milestones. Therefore, to track their development, we need to correct the baby’s age according to how premature they were to see whether they are delayed from their expected

Bone tumours occur due to an abnormal proliferation of bone cells, and these can be either benign or malignant. – One of the most common symptoms that bone cancers produce is bone pain. However, this is a very ambiguous symptoms as bone pain can be poorly localised and due to many differentials. – Therefore, it is important to look out for particular red flags which may indicate bone cancer. Red Flag Symptoms Guidelines: – For unexplained bone pain/swelling in children and young people –> urgent X-ray within 48 hours – If results suggest sarcoma –> referral to specialist within 2

A premature infant is defined as a baby that is born alive before 37 weeks, which can be split into categories. – Antenatally, mothers are given magnesium sulphate (neuroprotective) and steroids to stimulate lung maturation – Extremely preterm = <28 weeks (these need transfer to tertiary centre) – Very preterm = 28 – 32 weeks – Moderate – Late preterm = 32-37 weeks   Premature babies are expected to have delayed developmental milestones. Therefore, to track their development, we need to correct the baby’s age according to how premature they were to see whether they are delayed from their expected

Transient Tachypnoea of the New-born (TTN) This is a condition which is the most common cause of respiratory distress in babies. – In the fetus, the lungs are filled with fluid, however this normally gets squeezed out during vaginal birth and the remainder gets absorbed shortly after birth into the bloodstream. – The problem arises when there is a delay in the reabsorption of lung fluid, which “drowns” lungs – A risk factor is C-section delivery (as fluid is not squeezed out of the lungs)   Symptoms: – Respiratory distress (tachypnoea, tachycardia, breathlessness)   Diagnosis: – Diagnosis of exclusion once

Early Childhood (infancy – 2 years)   Benign sleep myoclonus These are myoclonic jerks that occur during sleep in young children, which stop if the child is woken up – They are complete benign and not real seizures and self-limiting, so only need to provide reassurance to parents.   Infantile spasms (West’s syndrome) This is a rare form of epilepsy in children which is usually 2nd to a serious neurological abnormality. – it is thought to be due to malfunction of the regulation of GABA transmission   Symptoms: – Triad of muscle spasm attacks – Lightning attacks –> (rapid flexion

Down’s syndrome This condition is caused by having an extra chromosome 21 leading to multiple complications   Inheritance: – Trisomy 21 (the risk of this increases with maternal age), – Some cases due to Robertsonian chromosome translocation (usually onto 14) – can be inherited   Risk: The risk of Down’s syndrome increases with maternal age. – Maternal age 20 – 1in 1500 – Maternal age 45 – 1 in 50  Maternal Age (years)  20  50  40  45  Risk  1 in 1500  1 in 800  1 in 100  1 in 50 Symptoms: Intellectual –> Learning disability, autism, early onset Alzheimer’s disease, delayed

There are host of conditions which may interfere with androgen signalling, which can lead to disorders of sexual development.   Congenital Adrenal Hyperplasia (CAH) This is an autosomal recessive disorder which causes an excess of sex steroids with hyperplasia of both adrenal glands. – It occurs due to a mutation in the enzymes which catalyse aldosterone and cortisol synthesis. – Deficiency in these enzymes means that the precursors get shunted towards sex steroid production leading to increase in androgens, leading to the masculinisation of individuals – In addition, Cortisol deficiency leads to high ACTH (lack of negative feedback), giving bilateral

Developmental Dysplasia of the hip (DDH) This represents a spectrum of conditions which affect the proximal femur and acetabulum, seen in new-borns – The junction between femur and acetabulum is not properly formed which results in deformity which can range from mild dysplasia to subluxation and full dislocation of the hip – It is much more common in females and more common in the left hip – The biggest risk factor is breech presentation, as well as a positive family history and oligohydramnios – Therefore, all breech babies born at 36+ weeks gestation require bilateral hip ultrasound scan at 6

Gastro-oesophageal reflux disease (GORD) In children, Gastro-oesophageal reflux refers to the passage of gastric contents into the oesophagus. – Reflux is a common event and is self-limiting, with nearly all cases resolving spontaneously by 12 months. – It is characterised by vomiting/regurgitation after feeds but normal weight gain and growth – It is common in children due to a host of factors, such as inappropriate relaxation of the LOS because of functional immaturity, a short intra-stomach length of the oesophagus and a predominantly fluid-based diet   The term GORD refers to GOR that causes symptoms severe enough to merit medical treatment

Scarlet Fever This is a systemic reaction to the toxin made by Group A haemolytic streptococci (usually S. pyogenes) – The infection usually occurs in children around the ages of 3-5 and it is a notifiable disease – The bacteria can be spread by inhalation of droplets or by direct contact through secretions – It affects a small number of people who have the strep throat or skin infection (impetigo) Symptoms: – General –> fever, malaise, headache, sore throat, swollen lymph nodes – Strawberry tongue – this initially has a white coating on it, after which red papillae poke through

Bronchiolitis This is a lower respiratory tract infection which leads to the blockage of small airway in the lungs – It can lead to significant respiratory distress, especially in children with other comorbidities such as prematurity, congenital heart disease or immunodeficiency. – It is most seen in children younger than 2 and cases spike in autumn and winter   Cause: Respiratory syncytial virus (most common), rhinovirus is second most common cause   Symptoms: – General –> coryza, fever, irritability, poor feeding – Dry cough – Coryzal symptoms precede – Wheeze and crackles on auscultation – Respiratory distress –> chest wall

One of the main symptoms of paediatric liver conditions is jaundice. Whilst neonatal jaundice is a common finding, jaundice in the first 24 hours is always pathological. – This may be due to haemolytic disorders, infection, or metabolic liver disorders like Crigler-Najjar syndrome. – The problem with this is that is can lead to raised levels of unconjugated bilirubin in the blood. – As this is fat soluble, it can cross the blood brain barrier is very neurotoxic and cause irreversible neurological symptoms.    Biliary Atresia This is a condition where there is progressive fibrosis and obliteration of the biliary

A premature infant is defined as a baby that is born alive before 37 weeks, which can be split into categories. – Antenatally, mothers are given magnesium sulphate (neuroprotective) and steroids to stimulate lung maturation – Extremely preterm = <28 weeks (these need transfer to tertiary centre) – Very preterm = 28 – 32 weeks – Moderate – Late preterm = 32-37 weeks   Premature babies are expected to have delayed developmental milestones. Therefore, to track their development, we need to correct the baby’s age according to how premature they were to see whether they are delayed from their expected

Transient Tachypnoea of the New-born (TTN) This is a condition which is the most common cause of respiratory distress in babies. – In the fetus, the lungs are filled with fluid, however this normally gets squeezed out during vaginal birth and the remainder gets absorbed shortly after birth into the bloodstream. – The problem arises when there is a delay in the reabsorption of lung fluid, which “drowns” lungs – A risk factor is C-section delivery (as fluid is not squeezed out of the lungs)   Symptoms: – Respiratory distress (tachypnoea, tachycardia, breathlessness)   Diagnosis: – Diagnosis of exclusion once

Hypoxic-Ischaemic Encephalopathy (HIE) This refers to injury to the brain, which is caused by being deprived of oxygen, due to a significant hypoxic event immediately before or during delivery – Damage occurs immediately from primary neural death and after due to reperfusion injury   Causes: Anything which decreases oxygen transfer across placenta or oxygenation of blood after birth   Symptoms: – Reduced level of consciousness – Reduced muscle tone and reflexes – Seizures – Inability to feed – Respiratory distress with difficulty in maintaining adequate respiration   Tests: – Umbilical cord blood gas analysis –> shows perinatal hypoxia – MRI/CT

After birth, there are several physiological changes that occur that allow neonates to survive postnatal life. Antenatally: – Whilst the baby is in the uterus, the lungs are filled with fluid – The blood vessels that supply/drain the lungs are constricted (giving a high pulmonary vascular resistance) – Most blood from the right side of the heart bypasses the lungs via the ductus arteriosus and the foramen Ovale   Perinatally: – Shortly before and during labour, lung liquid production is reduced – During descent through the birth canal, the infant’s chest is squeezed, draining some lung liquid – Multiple stimuli

Acute Otitis Media This is an infection of the middle ear which is usually seen in children, due to Eustachian tube dysfunction – It usually occurs with a history of an URTI (S. Pnemoniae) giving fever and cough   Symptoms: Earache, fever, irritability and diarrhoea, but can lead to tympanic membrane perforation   Management: 1st line is 5-7-day course of amoxicillin (but strict antibiotic guidelines, only give if:) a) Systemically unwell or high risk of complications b) Younger than 2 years with bilateral otitis media c) Otorrhoea (discharge after ear drum perforation) d) If none of the above but if

Bone tumours occur due to an abnormal proliferation of bone cells, and these can be either benign or malignant. – One of the most common symptoms that bone cancers produce is bone pain. However, this is a very ambiguous symptoms as bone pain can be poorly localised and due to many differentials. – Therefore, it is important to look out for particular red flags which may indicate bone cancer. Red Flag Symptoms Guidelines: – For unexplained bone pain/swelling in children and young people –> urgent X-ray within 48 hours – If results suggest sarcoma –> referral to specialist within 2

Juvenile Idiopathic Arthritis (JIA) This is a condition which causes arthritis in someone <16 years old and which lasts more than 6 weeks. – Officially there are 7 subtypes of JIA, but the most common is oligoarticular – If left untreated it lead to bony deformities, stunt growth and even delayed puberty   Oligoarticular This is the most common subtype in which 4 of fewer joints are affected during the first 6 months of disease   Symptoms: – Morning joint stiffness – Joint pain and swelling (affected medium sized joints: knees, ankles, elbows) – Stiffness which worsens after periods of

Chondromalacia patellae (CMP) This is a condition which leads to inflammation on the articular cartilage of the patella, which is more commonly seen in adolescent girls – The cartilage under the patella starts to deteriorate and breakdown becoming rough – This leads to friction when the child moves which can give pain and discomfort on movement – It can be caused from an acute injury to knee, or chronic friction between patella and groove in the femur.   Symptoms: – Pain at the front on the knee during sports e.g., football, rowing, tennis – Pain is worse after a period

Developmental Dysplasia of the hip (DDH) This represents a spectrum of conditions which affect the proximal femur and acetabulum, seen in new-borns – The junction between femur and acetabulum is not properly formed which results in deformity which can range from mild dysplasia to subluxation and full dislocation of the hip – It is much more common in females and more common in the left hip – The biggest risk factor is breech presentation, as well as a positive family history and oligohydramnios – Therefore, all breech babies born at 36+ weeks gestation require bilateral hip ultrasound scan at 6

Fragile X syndrome This is a condition which is caused by a trinucleotide repeat in the FMR1 gene. – FMR1 gene encodes the FMRP protein found in highest concentration in brain and testes which is responsible for selective binding mRNA in brains and transporting it to nucleus and neural synapses.   Inheritance: X-linked dominant, meaning it is seen much more in males – The condition shows variable expressivity and reduced penetrance but genetic anticipation – It affects males more severely as women have random X-chromosome inactivation   In unaffected people, the FMR1 gene contains 5-44 repeats of the sequence CGG

Klinefelter’s Syndrome This is a condition which leads to an additional sex chromosome, giving the karyotype 47 XXY – The offspring will be male due to the presence of the Y chromosome but will have deformities   Inheritance: Extra X chromosome due to nondisjunction during male or female meiosis   Symptoms: – Body –> Tall stature – Head and Neck –> Poor beard growth – Feminisation of body –> Gynaecomastia (increasing risk of breast cancer), less body hair, less muscle mass – Genitals –> Small poorly functioning testicles, lack of libido – Endocrine –> lack of secondary sexual characteristics, giving

Down’s syndrome This condition is caused by having an extra chromosome 21 leading to multiple complications   Inheritance: – Trisomy 21 (the risk of this increases with maternal age), – Some cases due to Robertsonian chromosome translocation (usually onto 14) – can be inherited   Risk: The risk of Down’s syndrome increases with maternal age. – Maternal age 20 – 1in 1500 – Maternal age 45 – 1 in 50  Maternal Age (years)  20  50  40  45  Risk  1 in 1500  1 in 800  1 in 100  1 in 50 Symptoms: Intellectual –> Learning disability, autism, early onset Alzheimer’s disease, delayed

Scarlet Fever This is a systemic reaction to the toxin made by Group A haemolytic streptococci (usually S. pyogenes) – The infection usually occurs in children around the ages of 3-5 and it is a notifiable disease – The bacteria can be spread by inhalation of droplets or by direct contact through secretions – It affects a small number of people who have the strep throat or skin infection (impetigo) Symptoms: – General –> fever, malaise, headache, sore throat, swollen lymph nodes – Strawberry tongue – this initially has a white coating on it, after which red papillae poke through

Maternal antibodies start transferring across to the fetus in the last trimester. When maternal antibody levels decline, infants can then become susceptible to viral infections. – In addition to the normal vaccines, there are selective immunisation groups: i) Hepatitis B –> gives to babies born to hep B infected mothers (3 shots) ii) TB –> BCG vaccine is given to infants born in high-risk country or with parent from high-risk country. (1 shot)  Contraindications to Vaccination   Neonatal Infections   Early Onset Infection This describes an infection which occurs with an onset <72rs after birth – The most common pathogen is Group

Precocious puberty This is defined as the development of secondary sexual characteristics at an abnormally young age – In females, this is before the age of 8 and before the age of 9 in males. – Precocious puberty in females is usually due to premature onset of normal puberty whereas in males, it is more likely to be due to a pathological cause. – Precocious puberty in males is more likely to be due to a pathological cause   We can categorise precocious puberty into two types:   Central This is where there are disturbances to the central nervous system

There are host of conditions which may interfere with androgen signalling, which can lead to disorders of sexual development.   Congenital Adrenal Hyperplasia (CAH) This is an autosomal recessive disorder which causes an excess of sex steroids with hyperplasia of both adrenal glands. – It occurs due to a mutation in the enzymes which catalyse aldosterone and cortisol synthesis. – Deficiency in these enzymes means that the precursors get shunted towards sex steroid production leading to increase in androgens, leading to the masculinisation of individuals – In addition, Cortisol deficiency leads to high ACTH (lack of negative feedback), giving bilateral

The foetal gonad is initially bipotential and undifferentiated. – In males, the SRY gene on the Y chromosome is responsible for the differentiation of the gonad into a testis – This leads to the production of testosterone and its metabolite dihydrotestosterone which causes development of male genitalia – In the absence of SRY, the gonads become ovaries and the genitalia female During puberty, the hypothalamus produces pulsatile secretions of GnRH. – This stimulates the anterior pituitary to produce LH and FSH which act on the gonads:   Testes: – LH acts on Leydig cells –> produces testosterone – FSH acts

Squint (strabismus) This is an eye condition in which the two eyes are not aligned when looking at an object – The condition can be present occasionally or permanently, and usually affects one eye – The problem is that if present during childhood, it can result in amblyopia and loss of depth perception   Types: i) Concomitant: – This is where the deviation is the same magnitude regardless of gaze position – This occurs due to an imbalance in the power of the extraocular muscles of the eye – Can be convergent (more common) or divergent   ii) Incomitant: –

Early Childhood (infancy – 2 years)   Benign sleep myoclonus These are myoclonic jerks that occur during sleep in young children, which stop if the child is woken up – They are complete benign and not real seizures and self-limiting, so only need to provide reassurance to parents.   Infantile spasms (West’s syndrome) This is a rare form of epilepsy in children which is usually 2nd to a serious neurological abnormality. – it is thought to be due to malfunction of the regulation of GABA transmission   Symptoms: – Triad of muscle spasm attacks – Lightning attacks –> (rapid flexion

Muscular Dystrophy This refers to a group of degenerative disorders which lead to skeletal muscle breakdown and weakness over time – There are over 30 different disorders, but a few are much more common that the rest. – Each has a different pattern on inheritance, which can be X-lined or autosomal.   General Diagnosis: – Blood test shows raised creatinine kinase –> due to breakdown of skeletal muscle – Genetic testing and muscle biopsy is diagnostic   General Management: – No cure available – Steroids slow muscle degeneration and anticonvulsants control seizures – Aim to maximise quality of life with

Vesicoureteral reflux This is the backflow of urine from the bladder into the ureter, which is divided into 2 types. – The backflow of urine predisposes children to recurrent infections which can later lead to renal scarring. – If left untreated, it is a risk factor for later developing progressive chronic kidney disease and hypertension   Primary VUR This is the most common type, which occurs due to a congenital defect in the vesicoureteral junction – This defect causes the ureters to enter the bladder in a more perpendicular fashion – This reduces the length of the ureter in the

Multicystic Dysplastic Kidneys This is a kidney malformation resulting in a non-functioning kidney with large fluid-filled cysts – The kidney does not contain any renal tissue and there is no connection with the bladder. – It is due to failed union of the ureteric bud which forms the ureter, pelvis, calyces and collecting ducts and the nephrogenic mesenchyme which forms the kidney tissue Symptoms: – The affected kidney is non-functional – Potter syndrome (severe oligohydramnios and poor foetal development) will result if the lesion is bilateral   Management: – Half of the affected kidneys with involute by the age of

One of the main symptoms of paediatric liver conditions is jaundice. Whilst neonatal jaundice is a common finding, jaundice in the first 24 hours is always pathological. – This may be due to haemolytic disorders, infection, or metabolic liver disorders like Crigler-Najjar syndrome. – The problem with this is that is can lead to raised levels of unconjugated bilirubin in the blood. – As this is fat soluble, it can cross the blood brain barrier is very neurotoxic and cause irreversible neurological symptoms.    Biliary Atresia This is a condition where there is progressive fibrosis and obliteration of the biliary

Coeliac disease This is T cell- mediated damage of the small bowel villi due to gluten exposure, causing malabsorption – Gluten is found in wheat and grains and causes damage in the duodenum more than jejunum/ileum – It is associated with HLA-DQ2 and -DQ8, and onset often presents in childhood and again at 50-60 years. Symptoms: – Diarrhoea + Bloating + Abdominal pain – Malabsorption –> steatorrhea + weight loss – Fatigue + failure to thrive – Hyposplenism -Anaemia –> iron, folate and Vit B12 deficient – Osteoporosis + osteomalacia   Associated conditions: – Dermatitis herpetiformis –> IgA deposition in dermis

Gastro-oesophageal reflux disease (GORD) In children, Gastro-oesophageal reflux refers to the passage of gastric contents into the oesophagus. – Reflux is a common event and is self-limiting, with nearly all cases resolving spontaneously by 12 months. – It is characterised by vomiting/regurgitation after feeds but normal weight gain and growth – It is common in children due to a host of factors, such as inappropriate relaxation of the LOS because of functional immaturity, a short intra-stomach length of the oesophagus and a predominantly fluid-based diet   The term GORD refers to GOR that causes symptoms severe enough to merit medical treatment

Tracheo-oesophageal fistula This is a congenital defect which results in a connection between oesophagus and trachea – During early development, the oesophagus and trachea begin as a single tube – Normally, this tube divides into the 2 tubes in the first trimester of pregnancy – If this separation does not occur properly this leads a residual connection allowing food to enter the oesophagus. – Most common defect is proximal oesophageal atresia and distal oesophagus arising from trachea Symptoms: Antenatal: – Polyhydramnios (excess amniotic fluid in utero as baby cannot swallow fluid) – Absent stomach bubble on antenatal US (due to

Inhaled Foreign Body This describes a foreign object which becomes lodged in the respiratory tract. – A foreign body can be anything which is easily inhaled, such as toys, buttons, pieces of food – It can cause an upper airway obstruction by lodging in the trachea/larynx or obstruct deeper in a bronchus   Upper airway obstruction This is a foreign body which obstructs the larynx or the trachea blocking airflow into the respiratory tract – This leads to choking and it is a life-threatening emergency   Symptoms: Signs of choking (coughing, breathlessness, loss of consciousness), cyanosis, stridor   Management: When

Asthma This is a disease which is due to reversible airway bronchoconstriction, most often due to allergic stimuli. – Whereas the symptoms and development are very similar to adults, the diagnostic criteria and management are different for childre   Diagnosis: For patients 5-16 years: – Bronchodilator reversibility test: a positive test is improvement in FEV1 of 12% or more – FeNO only requested if normal spirometry or negative BDR test – FeNO: a level of >= 35 parts per billion (ppb) is considered positive   For patients < 5: – Diagnosis based on clinical judgement Grading Severity of Asthma in

Bronchiolitis This is a lower respiratory tract infection which leads to the blockage of small airway in the lungs – It can lead to significant respiratory distress, especially in children with other comorbidities such as prematurity, congenital heart disease or immunodeficiency. – It is most seen in children younger than 2 and cases spike in autumn and winter   Cause: Respiratory syncytial virus (most common), rhinovirus is second most common cause   Symptoms: – General –> coryza, fever, irritability, poor feeding – Dry cough – Coryzal symptoms precede – Wheeze and crackles on auscultation – Respiratory distress –> chest wall

Coarctation of Aorta This refers to a narrowing of the aorta, which is divided into infantile and adult forms. – It occurs due to arterial duct tissue encircling the aorta at the point of insertion of the ductus arteriosus – When the duct closes, the aorta also constricts, causing a severe obstruction to left ventricle outflow – Coarctation of the aorta exists in both infantile and adult forms:    Infantile coarctation of aorta This occurs with a persistent ductus arteriosus and is associated with Turner syndrome – The coarctation occurs distal to aortic arch but before PDA   Symptoms: –

These conditions lead to the mixing of deoxygenated and oxygenated blood in a chamber, which leads to progressive cyanosis. These conditions are rarer than septal defects.   Atrioventricular Septal Defect (AVSD) This is a condition where there is a defect in the middle of the heart with a single 5-leaflet valve between the atria and ventricles – It is due to poor fusion of the endocardial cushion with the atrial and ventricular septum – This 5-leaflet valve stretches across the AV junction but tends to leak allowing the mixing of blood. – It is associated with a diagnosis of Down’s

These conditions lead to the mixing of deoxygenated blood from the right side of the circulation and oxygenated blood in the left side of the circulation. – This leads to cyanosis, which can be divided into two types:   i) Peripheral cyanosis: – This occurs in the extremities such as feet and hands, is very common in the first 24 hours of life – It can also occur when the child is crying or unwell from any cause, and so is less serious   ii) Central cyanosis: – This is seen when the concentration of reduced haemoglobin in the blood

These shunts due to not cause cyanosis at birth, as the pressure in the left circulation is more than the right – The increased pressure in the pulmonary circulation leads to remodeling and pulmonary hypertension – This causes right ventricular hypertrophy and will eventually cause a reversal to a right-to-left shunt – This is called Eisenmenger’s syndrome which occurs about 10-15 years – This is a progressive condition which will lead to heart failure usually at the age of 40 if left untreated    Atrial septal defect (ASD) This is a defect which leads a residual hole between the two atria. –

At birth there are changes in two major shunts in the circulation: i) Ductus arteriosus: – In the fetus, this connects the pulmonary artery to the aorta to allow bypassing of the foetal lungs – After birth, drop in maternal prostaglandins causes it to close   ii) Foramen Ovale: – In the fetus, left atrium pressure is low as little blood returns from the lungs – Right atrium pressure is higher as it receives all the systemic venous return (including blood from the placenta) – Therefore, the flap valve of the foramen ovale is held open and blood flows from