Developmental dysplasia of the hip (DDH) is a condition that affects 1-3% of newborns and is more common in females, firstborn children, and those with a positive family history or breech presentation. It used to be called congenital dislocation of the hip (CDH). DDH is more often found in the left hip and can be bilateral in 20% of cases. Screening for DDH is recommended for infants with certain risk factors, and all infants are screened using the Barlow and Ortolani tests at the newborn and six-week baby check. Clinical examination includes testing for leg length symmetry, restricted hip abduction, and knee level when hips and knees are flexed. Ultrasound is used to confirm the diagnosis if clinically suspected, but x-ray is the first line investigation for infants over 4.5 months. Management includes the use of a Pavlik harness for children under 4-5 months and surgery for older children with unstable hips.

Understanding Growing Pains in Children

Growing pains are a common complaint among children aged 3-12 years. These pains are often attributed to ‘benign idiopathic nocturnal limb pains of childhood’ in rheumatology, as they are not necessarily related to growth. Boys and girls are equally affected by growing pains, which are characterized by intermittent pain in the legs without obvious cause.

One of the key features of growing pains is that they are never present at the start of the day after the child has woken up. Additionally, there is no limp or limitation of physical activity, and the child is systemically well with normal physical examination and motor milestones. Symptoms may worsen after a day of vigorous activity.

Overall, growing pains are a benign condition that can be managed with reassurance and simple measures such as massage or heat application. However, it is important to rule out other potential causes of leg pain in children, especially if there are any worrying features present.

Huntington disease is an autosomal dominant condition, which implies that the patient has one normal and one faulty copy of the gene. The faulty copy is dominant and causes the disease. If an affected patient has a child, the child has a 50% chance of inheriting the faulty gene and developing the condition, and a 50% chance of inheriting the normal gene and not developing the disease.

Autosomal Dominant Diseases: Characteristics and Complicating Factors

Autosomal dominant diseases are genetic disorders that are inherited from one parent who carries the abnormal gene. In these diseases, both homozygotes and heterozygotes manifest the disease, and both males and females can be affected. The disease is passed on to 50% of children, and it normally appears in every generation. The risk remains the same for each successive pregnancy.

However, there are complicating factors that can affect the expression of the disease. Non-penetrance is a phenomenon where an individual carries the abnormal gene but does not show any clinical signs or symptoms of the disease. For example, 40% of individuals with otosclerosis do not show any symptoms despite carrying the abnormal gene. Another complicating factor is spontaneous mutation, where a new mutation occurs in one of the gametes. This can result in the disease appearing in a child even if both parents do not carry the abnormal gene. For instance, 80% of individuals with achondroplasia have unaffected parents.

In summary, autosomal dominant diseases have distinct characteristics such as their inheritance pattern and the fact that affected individuals can pass on the disease. However, complicating factors such as non-penetrance and spontaneous mutation can affect the expression of the disease and make it more difficult to predict its occurrence.

Achondroplasia and Other Causes of Short Stature

Achondroplasia is a genetic condition that affects bone growth, resulting in disproportionately short limbs and a greater sitting height compared to standing height. This is because the condition impairs the growth of cartilaginous bone, leading to much shorter arms and legs than the spine. Measuring sitting height can help estimate axial skeleton growth compared to standing height, which includes the limbs.

Other causes of short stature include Down’s syndrome and Noonan’s syndrome, which result in proportionate short stature and a similar standing and sitting centile. However, Fragile X syndrome and Klinefelter’s syndrome typically do not cause short stature. It is important to understand the underlying causes of short stature in order to provide appropriate medical care and support for individuals affected by these conditions.

If a fetus is diagnosed with exomphalos, a caesarean section is recommended to lower the risk of sac rupture. Elevated levels of alpha-fetoprotein may indicate abdominal wall defects. The appropriate course of action is a caesarian section with staged repair, as this reduces the risk of sac rupture and surgery is not urgent. Immediate repair during caesarian section would only be necessary if the sac had ruptured. Vaginal delivery with immediate repair is only recommended for gastroschisis, as immediate surgery is required due to the lack of a protective sac. Therefore, the other two options are incorrect.

Gastroschisis and exomphalos are both types of congenital visceral malformations. Gastroschisis refers to a defect in the anterior abdominal wall located just beside the umbilical cord. In contrast, exomphalos, also known as omphalocele, involves the protrusion of abdominal contents through the anterior abdominal wall, which are covered by an amniotic sac formed by amniotic membrane and peritoneum.

When it comes to managing gastroschisis, vaginal delivery may be attempted, but newborns should be taken to the operating theatre as soon as possible after delivery, ideally within four hours. As for exomphalos, a caesarean section is recommended to reduce the risk of sac rupture. In cases where primary closure is difficult due to lack of space or high intra-abdominal pressure, a staged repair may be undertaken. This involves allowing the sac to granulate and epithelialise over several weeks or months, forming a shell. As the infant grows, the sac contents will eventually fit within the abdominal cavity, at which point the shell can be removed and the abdomen closed.

Overall, both gastroschisis and exomphalos require careful management to ensure the best possible outcome for the newborn. By understanding the differences between these two conditions and the appropriate steps to take, healthcare professionals can provide effective care and support to both the infant and their family.

Croup is a viral illness that affects young children, causing a sudden-onset barking cough and upper airway inflammation. Mild cases can be treated with a single dose of oral dexamethasone, while moderate to severe cases require admission and nebulised adrenaline. This child has mild croup and should be given a single dose of oral dexamethasone before being discharged home with clear instructions on when to seek further medical attention. If the child develops any signs of respiratory distress, they should be taken to the Emergency Department immediately.

The child in question is suffering from Kawasaki disease, a febrile vasculitis that affects small to medium-sized arteries and primarily affects children under the age of 5, with males being more commonly affected. Symptoms include sudden-onset fever lasting at least 5 days, nonexudative conjunctivitis, polymorphous rash, lymphadenopathy, mucositis, and cardiovascular manifestations such as coronary artery aneurysms. Diagnosis is based on the presence of fever lasting for >5 days and at least four or five of the following: bilateral conjunctivitis, changes in the lips and oral mucosal cavities, lymphadenopathy, polymorphous rash, and changes in the extremities. Treatment involves inpatient care, intravenous immunoglobulins (IVIG), aspirin, and monitoring of cardiovascular function. If left untreated, Kawasaki disease can lead to arterial aneurysms and congestive heart disease. Other potential causes of the child’s symptoms, such as Coxsackie infection, measles, viral upper respiratory tract infection with exanthema, and scarlet fever, have been ruled out based on the child’s symptoms and medical history.

Growth Hormone Deficiency as a Cause of Short Stature in Pubescent Girls

A girl who has gone through puberty but has not gained height may have growth hormone deficiency. This condition is characterized by a discrepancy between the girl’s bone age and chronological age, as well as a doll-like face that gives her an immature appearance. Growth hormone deficiency is a rare but significant cause of short stature, as it can be a symptom of an underlying disease and can be treated with replacement injections.

In some cases, GH deficiency may be caused by intracerebral masses, particularly craniopharyngiomas in 7- to 10-year-olds. However, if a chronic illness were the cause, such as coeliac disease or Cushing syndrome, it would likely delay puberty and result in an inappropriately young Tanner stage. The girl would also be expected to exhibit features of the chronic condition.

It is important to note that this girl is not suffering from constitutional delay, as she has already entered puberty and has appropriate Tanner staging. Constitutional delay is typically characterized by a family history and delayed menarche in the affected individual. Therefore, growth hormone deficiency should be considered as a potential cause of short stature in pubescent girls who have not gained height despite going through puberty.

Understanding Vesicoureteric Reflux

Vesicoureteric reflux (VUR) is a condition where urine flows back from the bladder into the ureter and kidney. This is a common urinary tract abnormality in children and can lead to urinary tract infections (UTIs). In fact, around 30% of children who present with a UTI have VUR. It is important to investigate for VUR in children following a UTI as around 35% of children develop renal scarring.

The pathophysiology of VUR involves the ureters being displaced laterally, which causes a shortened intramural course of the ureter. This means that the vesicoureteric junction cannot function properly. VUR can present in different ways, such as hydronephrosis on ultrasound during the antenatal period, recurrent childhood UTIs, and reflux nephropathy, which is chronic pyelonephritis secondary to VUR. Renal scarring can also produce increased quantities of renin, which can cause hypertension.

To diagnose VUR, a micturating cystourethrogram is usually performed. A DMSA scan may also be done to check for renal scarring. VUR is graded based on the severity of the condition, with Grade I being the mildest and Grade V being the most severe.

Overall, understanding VUR is important in preventing complications such as UTIs and renal scarring. Early diagnosis and management can help improve outcomes for children with this condition.

A collapsing pulse is linked to PDA.

Patent ductus arteriosus is a type of congenital heart defect that is typically classified as ‘acyanotic’. However, if left untreated, it can eventually lead to late cyanosis in the lower extremities, which is known as differential cyanosis. This condition is caused by a connection between the pulmonary trunk and descending aorta that fails to close with the first breaths due to increased pulmonary flow that enhances prostaglandins clearance. Patent ductus arteriosus is more common in premature babies, those born at high altitude, or those whose mothers had rubella infection during the first trimester of pregnancy.

The features of patent ductus arteriosus include a left subclavicular thrill, a continuous ‘machinery’ murmur, a large volume, bounding, collapsing pulse, a wide pulse pressure, and a heaving apex beat. To manage this condition, indomethacin or ibuprofen is given to the neonate, which inhibits prostaglandin synthesis and closes the connection in the majority of cases. If patent ductus arteriosus is associated with another congenital heart defect that is amenable to surgery, then prostaglandin E1 is useful to keep the duct open until after surgical repair.

According to medical guidelines, umbilical hernias in children usually close on their own by the age of 4-5. However, if the hernia persists beyond this age or is large and causing symptoms, surgical repair is recommended. In the case of a small hernia in a 3-year-old child, observation is appropriate until the age of 5. If the hernia becomes incarcerated, it should be manually reduced and surgically repaired within 24 hours. The use of compression therapy after surgery is not recommended. Waiting for the hernia to self-resolve after the age of 5 is not advised as it is unlikely to happen and could lead to incarceration. These recommendations are based on BMJ Best Practice guidelines.

Umbilical Hernia in Children: Causes and Treatment

Umbilical hernias are a common occurrence in children and are often detected during the newborn examination. This condition is characterized by a bulge or protrusion near the belly button, caused by a weakness in the abdominal muscles. While umbilical hernias can occur in any child, they are more common in Afro-Caribbean infants and those with Down’s syndrome or mucopolysaccharide storage diseases.

Fortunately, in most cases, umbilical hernias in children do not require treatment and will resolve on their own by the age of three. However, if the hernia persists beyond this age or becomes painful, surgery may be necessary to repair the abdominal wall. It is important to monitor the hernia and seek medical attention if there are any changes in size or symptoms.

In summary, umbilical hernias are a common condition in children that typically resolve on their own without treatment. However, certain factors such as ethnicity and underlying medical conditions may increase the likelihood of developing an umbilical hernia. Parents should be aware of the signs and symptoms of umbilical hernias and seek medical attention if necessary.

The Importance of Vitamins in Various Biological Processes

Vitamins play a crucial role in various biological processes, including nucleic acid synthesis, high-energy electron carrier synthesis, pyruvate dehydrogenase function, prevention of keratinised squamous metaplasia, and fatty acid synthesis.

Insufficient maternal folate, a vitamin necessary in nucleic acid synthesis, can cause spina bifida, a neural tube defect. Supplementation with folate prior to conception can prevent such defects. Vitamin B3 is necessary for the synthesis of a high-energy electron carrier, while vitamin B1 is necessary for pyruvate dehydrogenase function. Vitamin A prevents keratinised squamous metaplasia and maintains specialised epithelium, but its supplementation is contraindicated during pregnancy. Finally, pantothenic acid or vitamin B5 is necessary for fatty acid synthesis, and its deficiency is rare.

In conclusion, vitamins are essential for various biological processes, and their deficiency can lead to severe health issues. It is crucial to maintain a balanced diet and ensure adequate vitamin intake to prevent such deficiencies.

When evaluating infants under 3 months with a fever, the following tests should be conducted: a complete blood count, blood culture, C-reactive protein test, urine analysis to check for urinary tract infections, and a chest X-ray if respiratory symptoms are present. Additionally, a stool culture should be performed if the infant is experiencing diarrhea.

The NICE Feverish illness in children guidelines were introduced in 2007 and updated in 2013. These guidelines use a ‘traffic light’ system to assess the risk of children under 5 years old presenting with a fever. It is important to note that these guidelines only apply until a clinical diagnosis of the underlying condition has been made. When assessing a febrile child, their temperature, heart rate, respiratory rate, and capillary refill time should be recorded. Signs of dehydration should also be looked for. Measuring temperature should be done with an electronic thermometer in the axilla if the child is under 4 weeks old or with an electronic/chemical dot thermometer in the axilla or an infrared tympanic thermometer.

The risk stratification table includes green for low risk, amber for intermediate risk, and red for high risk. The table includes categories such as color, activity, respiratory, circulation and hydration, and other symptoms. If a child is categorized as green, they can be managed at home with appropriate care advice. If they are categorized as amber, parents should be provided with a safety net or referred to a pediatric specialist for further assessment. If a child is categorized as red, they should be urgently referred to a pediatric specialist. It is important to note that oral antibiotics should not be prescribed to children with fever without an apparent source, and a chest x-ray does not need to be routinely performed if a pneumonia is suspected but the child is not going to be referred to the hospital.

Down’s Syndrome and Cognitive Decline

Cerebellar dysfunction is not a characteristic of Down’s syndrome. However, individuals with this condition may experience a decline in memory and cognitive abilities similar to Alzheimer’s disease as they approach their mid-thirties. This syndrome is characterized by a gradual loss of cognitive function, including memory, attention, and problem-solving skills. It is important to note that this decline is not universal and may vary in severity among individuals with Down’s syndrome. Despite this, it is crucial to monitor cognitive function in individuals with Down’s syndrome to ensure early detection and intervention if necessary.

Viral gastroenteritis often leads to transient lactose intolerance, which can be resolved by eliminating lactose from the diet for a few months and then gradually reintroducing it.

Understanding Diarrhoea in Children

Diarrhoea is a common condition in children that can be caused by various factors. One of the most common causes is gastroenteritis, which is often accompanied by fever and vomiting for the first two days. The main risk associated with this condition is severe dehydration, which can be life-threatening if left untreated. The most common cause of gastroenteritis is rotavirus, and the diarrhoea may last up to a week. The treatment for this condition is rehydration.

Chronic diarrhoea is another type of diarrhoea that can affect infants and toddlers. In the developed world, the most common cause of chronic diarrhoea in infants is cow’s’ milk intolerance. Toddler diarrhoea, on the other hand, is characterized by stools that vary in consistency and often contain undigested food. Other causes of chronic diarrhoea in children include coeliac disease and post-gastroenteritis lactose intolerance.

The probable diagnosis based on the examination findings is pulmonary ductus arteriosus (PDA), which is characterized by a ‘machinery-like’ murmur. The recommended treatment for this condition is the administration of indomethacin or ibuprofen, which inhibits prostaglandin production and promotes duct closure. The use of prostaglandin E1 is not appropriate in this case, as it would keep the duct open. Referral for routine or urgent surgery is also not necessary, as no other congenital heart defects were found on the echocardiogram. Monitoring and repeating echocardiograms alone are not sufficient and medical intervention is required for closure of the duct.

Patent ductus arteriosus is a type of congenital heart defect that is typically classified as ‘acyanotic’. However, if left untreated, it can eventually lead to late cyanosis in the lower extremities, which is known as differential cyanosis. This condition is caused by a connection between the pulmonary trunk and descending aorta that fails to close with the first breaths due to increased pulmonary flow that enhances prostaglandins clearance. Patent ductus arteriosus is more common in premature babies, those born at high altitude, or those whose mothers had rubella infection during the first trimester of pregnancy.

The features of patent ductus arteriosus include a left subclavicular thrill, a continuous ‘machinery’ murmur, a large volume, bounding, collapsing pulse, a wide pulse pressure, and a heaving apex beat. To manage this condition, indomethacin or ibuprofen is given to the neonate, which inhibits prostaglandin synthesis and closes the connection in the majority of cases. If patent ductus arteriosus is associated with another congenital heart defect that is amenable to surgery, then prostaglandin E1 is useful to keep the duct open until after surgical repair.

To evaluate the well-being of a newborn, medical professionals use the Apgar scoring system. This system takes into account the infant’s pulse, respiratory function, skin color, muscle tone, and reflex response.

The Apgar score is a tool used to evaluate the health of a newborn baby. It is recommended by NICE to be assessed at 1 and 5 minutes after birth, and again at 10 minutes if the initial score is low. The score is based on five factors: pulse, respiratory effort, color, muscle tone, and reflex irritability. A score of 0-3 is considered very low, 4-6 is moderate low, and 7-10 indicates that the baby is in good health. The score helps healthcare professionals quickly identify any potential issues and provide appropriate care.

In case of mild-moderate cow’s milk protein intolerance in a baby who is fed with formula, it is recommended to switch to an extensively hydrolyzed formula.

Understanding Cow’s Milk Protein Intolerance/Allergy

Cow’s milk protein intolerance/allergy (CMPI/CMPA) is a condition that affects around 3-6% of children, typically presenting in the first 3 months of life in formula-fed infants. Both immediate and delayed reactions can occur, with CMPA used for immediate reactions and CMPI for mild-moderate delayed reactions. Symptoms include regurgitation, vomiting, diarrhea, urticaria, atopic eczema, colic symptoms, wheeze, chronic cough, and rarely, angioedema and anaphylaxis. Diagnosis is often clinical, with investigations including skin prick/patch testing and total IgE and specific IgE (RAST) for cow’s milk protein.

Management for formula-fed infants includes using extensive hydrolyzed formula (eHF) milk as the first-line replacement formula for mild-moderate symptoms and amino acid-based formula (AAF) for severe CMPA or if no response to eHF. Around 10% of infants are also intolerant to soya milk. For breastfed infants, mothers should eliminate cow’s milk protein from their diet and consider prescribing calcium supplements to prevent deficiency. eHF milk can be used when breastfeeding stops until at least 6 months and up to 12 months of age.

The prognosis for CMPI is usually good, with most children becoming milk tolerant by the age of 3-5 years. However, a challenge is often performed in a hospital setting as anaphylaxis can occur. It is important to refer infants with severe symptoms to a pediatrician for management. Understanding CMPI/CMPA and its management can help parents and healthcare providers provide appropriate care for affected children.

It is common for newborns to experience transient hypoglycemia in the first few hours after birth. If a mother wishes to breastfeed, she should be provided with support and guidance on proper latching techniques and encouraged to engage in skin-to-skin contact with her baby. If the baby is having difficulty feeding, the mother can be taught how to hand express and provide colostrum through alternative methods. Blood glucose levels should be monitored before and after each feeding, without more than three hours between feeds. If the baby is asymptomatic, buccal glucose can be administered in conjunction with a feeding plan. However, if the baby has not yet had a feed and is mildly hypoglycemic, action should be taken and blood sugar levels should be checked again prior to the next feeding. It is important to provide mothers with information and support to encourage breastfeeding, rather than immediately suggesting formula feeding for a well, asymptomatic term baby. These guidelines are based on the BAPM Framework for Practice’s Identification and Management of Neonatal Hypoglycemia in the Full Term Infant (2017).

Neonatal Hypoglycaemia: Causes, Symptoms, and Management

Neonatal hypoglycaemia is a common condition in newborn babies, especially in the first 24 hours of life. While there is no agreed definition, a blood glucose level of less than 2.6 mmol/L is often used as a guideline. Transient hypoglycaemia is normal and usually resolves on its own, but persistent or severe hypoglycaemia may be caused by various factors such as preterm birth, maternal diabetes mellitus, IUGR, hypothermia, neonatal sepsis, inborn errors of metabolism, nesidioblastosis, or Beckwith-Wiedemann syndrome.

Symptoms of neonatal hypoglycaemia can be autonomic, such as jitteriness, irritability, tachypnoea, and pallor, or neuroglycopenic, such as poor feeding/sucking, weak cry, drowsiness, hypotonia, and seizures. Other features may include apnoea and hypothermia. Management of neonatal hypoglycaemia depends on the severity of the condition and whether the newborn is symptomatic or not. Asymptomatic babies can be encouraged to feed normally and have their blood glucose monitored, while symptomatic or severely hypoglycaemic babies may need to be admitted to the neonatal unit and receive intravenous infusion of 10% dextrose.

To diagnose SUFE, X-rays are the preferred imaging method. It is important to image both hips, even if there are no symptoms, to rule out involvement of the other hip. MRI is not typically used as a first-line investigation, but may be considered if there is still suspicion of SUFE despite normal X-rays. While CT is sensitive for SUFE, it is not typically used as a first-line investigation in children due to the radiation exposure.

Slipped Capital Femoral Epiphysis: A Rare Hip Condition in Children

Slipped capital femoral epiphysis, also known as slipped upper femoral epiphysis, is a rare hip condition that primarily affects children between the ages of 10 and 15. It is more commonly seen in obese boys. This condition is characterized by the displacement of the femoral head epiphysis postero-inferiorly, which may present acutely following trauma or with chronic, persistent symptoms.

The most common symptoms of slipped capital femoral epiphysis include hip, groin, medial thigh, or knee pain and loss of internal rotation of the leg in flexion. In some cases, a bilateral slip may occur. Diagnostic imaging, such as AP and lateral (typically frog-leg) views, can confirm the diagnosis.

The management of slipped capital femoral epiphysis typically involves internal fixation, which involves placing a single cannulated screw in the center of the epiphysis. However, if left untreated, this condition can lead to complications such as osteoarthritis, avascular necrosis of the femoral head, chondrolysis, and leg length discrepancy.

In summary, slipped capital femoral epiphysis is a rare hip condition that primarily affects children, especially obese boys. It is characterized by the displacement of the femoral head epiphysis postero-inferiorly and can present with various symptoms. Early diagnosis and management are crucial to prevent complications.

Understanding Pyloric Stenosis

Pyloric stenosis is a condition that usually occurs in infants between the second and fourth weeks of life. However, in rare cases, it may present later, up to four months. This condition is caused by the thickening of the circular muscles of the pylorus. Pyloric stenosis is more common in males, with an incidence of 4 per 1,000 live births. It is also more likely to affect first-borns and infants with a positive family history.

The most common symptom of pyloric stenosis is projectile vomiting, which usually occurs about 30 minutes after a feed. Other symptoms may include constipation, dehydration, and a palpable mass in the upper abdomen. Prolonged vomiting can lead to hypochloraemic, hypokalaemic alkalosis, which can be life-threatening.

Diagnosis of pyloric stenosis is typically made using ultrasound. Management of this condition involves a surgical procedure called Ramstedt pyloromyotomy. This procedure involves making a small incision in the pylorus to relieve the obstruction and allow for normal passage of food. With prompt diagnosis and treatment, infants with pyloric stenosis can make a full recovery.

The presented history indicates a possible case of meconium ileus, where the thickened meconium caused a blockage in the small intestine due to cystic fibrosis. The neonate is likely to have a swollen abdomen and may not pass meconium. Vomiting may contain bile, which is different from pyloric stenosis that does not have bile. Additionally, there is no indication of intussusception or pyloric stenosis mass.

Cystic Fibrosis: Symptoms and Characteristics

Cystic fibrosis is a genetic disorder that affects various organs in the body, particularly the lungs and digestive system. The symptoms of cystic fibrosis can vary from person to person, but there are some common features that are often present. In the neonatal period, around 20% of infants with cystic fibrosis may experience meconium ileus, which is a blockage in the intestine caused by thick, sticky mucous. Prolonged jaundice may also occur, but less commonly. Recurrent chest infections are a common symptom, affecting around 40% of patients. Malabsorption is another common feature, with around 30% of patients experiencing steatorrhoea (excessive fat in the stool) and failure to thrive. Liver disease may also occur in around 10% of patients.

It is important to note that while many patients are diagnosed with cystic fibrosis during newborn screening or early childhood, around 5% of patients are not diagnosed until after the age of 18. Other features of cystic fibrosis may include short stature, diabetes mellitus, delayed puberty, rectal prolapse (due to bulky stools), nasal polyps, male infertility, and female subfertility. Overall, the symptoms and characteristics of cystic fibrosis can vary widely, but early diagnosis and treatment can help manage the condition and improve quality of life.

This infant is diagnosed with Hirschsprung’s disease, a congenital abnormality that results in the absence of ganglion cells in the myenteric and submucosal plexuses. This condition affects approximately 1 in 5000 births and is characterized by delayed passage of meconium (more than 2 days after birth), abdominal distension, and bilious vomiting. Treatment typically involves rectal washouts initially, followed by an anorectal pull-through procedure that involves removing the affected section of bowel and creating an anastomosis with the healthy colon.

Abdominal X-rays, abdominal ultrasounds, and contrast enemas may suggest the presence of Hirschsprung’s disease, as the affected section of bowel may appear narrow while other sections may be dilated. However, a rectal biopsy is necessary for a definitive diagnosis, as it allows for the analysis of tissue under a microscope to confirm the absence of ganglion cells.

Paediatric Gastrointestinal Disorders

Pyloric stenosis is more common in males and has a 5-10% chance of being inherited from parents. Symptoms include projectile vomiting at 4-6 weeks of life, and diagnosis is made through a test feed or ultrasound. Treatment involves a Ramstedt pyloromyotomy, either open or laparoscopic.

Acute appendicitis is uncommon in children under 3 years old, but when it does occur, it may present atypically. Mesenteric adenitis causes central abdominal pain and URTI, and is treated conservatively.

Intussusception occurs in infants aged 6-9 months and causes colicky pain, diarrhea, vomiting, a sausage-shaped mass, and red jelly stool. Treatment involves reduction with air insufflation.

Intestinal malrotation is characterized by a high caecum at the midline and may be complicated by the development of volvulus. Diagnosis is made through an upper GI contrast study and ultrasound, and treatment involves laparotomy or a Ladd’s procedure.

Hirschsprung’s disease occurs in 1/5000 births and is characterized by delayed passage of meconium and abdominal distension. Treatment involves rectal washouts and an anorectal pull through procedure.

Oesophageal atresia is associated with tracheo-oesophageal fistula and polyhydramnios, and may present with choking and cyanotic spells following aspiration. Meconium ileus is usually associated with cystic fibrosis and requires surgery to remove plugs. Biliary atresia causes jaundice and increased conjugated bilirubin, and requires an urgent Kasai procedure. Necrotising enterocolitis is more common in premature infants and is treated with total gut rest and TPN, with laparotomy required for perforations.

Delayed passage or failure to pass meconium is a typical indication of Hirschsprung’s disease, which often manifests shortly after birth. Other symptoms include a swollen belly, vomiting of bile, fatigue, and dehydration. This condition is more prevalent in males and is linked to Down’s syndrome.

Understanding Hirschsprung’s Disease

Hirschsprung’s disease is a rare condition that affects 1 in 5,000 births. It is caused by a developmental failure of the parasympathetic Auerbach and Meissner plexuses, resulting in an aganglionic segment of bowel. This leads to uncoordinated peristalsis and functional obstruction, which can present as constipation and abdominal distension in older children or failure to pass meconium in the neonatal period.

Hirschsprung’s disease is three times more common in males and is associated with Down’s syndrome. Diagnosis is made through a rectal biopsy, which is considered the gold standard. Treatment involves initial rectal washouts or bowel irrigation, followed by surgery to remove the affected segment of the colon.

In summary, Hirschsprung’s disease is a rare condition that can cause significant gastrointestinal symptoms. It is important to consider this condition as a differential diagnosis in childhood constipation, especially in male patients or those with Down’s syndrome. Early diagnosis and treatment can improve outcomes and prevent complications.

Slipped capital femoral epiphysis is more likely to occur in obese boys aged 10-15, as obesity is a risk factor for this condition. It is caused by a weakness in the proximal femoral growth plate, which can also be due to endocrine disorders or rapid growth. Loss of internal rotation of the affected leg is a common finding during examination. Perthes’ disease can also cause groin pain, but it typically affects children aged 4 to 8 years old. Being male and having a lower socioeconomic status are also risk factors for this condition. Septic arthritis is unlikely in this case as the child’s vital signs are normal, and it usually presents with a hot and swollen joint and systemic illness. Developmental dysplasia of the hip is usually detected during routine hip examinations in the first year of life, using Barlow/Ortolani tests and assessing hip abduction.

Slipped Capital Femoral Epiphysis: A Rare Hip Condition in Children

Slipped capital femoral epiphysis, also known as slipped upper femoral epiphysis, is a rare hip condition that primarily affects children between the ages of 10 and 15. It is more commonly seen in obese boys. This condition is characterized by the displacement of the femoral head epiphysis postero-inferiorly, which may present acutely following trauma or with chronic, persistent symptoms.

The most common symptoms of slipped capital femoral epiphysis include hip, groin, medial thigh, or knee pain and loss of internal rotation of the leg in flexion. In some cases, a bilateral slip may occur. Diagnostic imaging, such as AP and lateral (typically frog-leg) views, can confirm the diagnosis.

The management of slipped capital femoral epiphysis typically involves internal fixation, which involves placing a single cannulated screw in the center of the epiphysis. However, if left untreated, this condition can lead to complications such as osteoarthritis, avascular necrosis of the femoral head, chondrolysis, and leg length discrepancy.

In summary, slipped capital femoral epiphysis is a rare hip condition that primarily affects children, especially obese boys. It is characterized by the displacement of the femoral head epiphysis postero-inferiorly and can present with various symptoms. Early diagnosis and management are crucial to prevent complications.

The primary treatment for uncomplicated transient tachypnoea of the newborn (TTN) involves observation and supportive care, along with the possible use of oxygen. This condition is frequently observed in babies delivered via Caesarean section, but in most cases, no additional treatment or testing is necessary if the baby is healthy. TTN typically resolves on its own, and parents should be reassured accordingly. Antibiotics, supplemental oxygen, and chest imaging are not typically required unless symptoms worsen. Additionally, TTN is not linked to any genetic predisposition or cause.

Understanding Transient Tachypnoea of the Newborn

Transient tachypnoea of the newborn (TTN) is a common respiratory condition that affects newborns. It is caused by the delayed resorption of fluid in the lungs, which can lead to breathing difficulties. TTN is more common in babies born via caesarean section, as the fluid in their lungs may not be squeezed out during the birth process. A chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure.

The management of TTN involves observation and supportive care. In some cases, supplementary oxygen may be required to maintain oxygen saturation levels. However, TTN usually resolves within 1-2 days. It is important for healthcare professionals to monitor newborns with TTN closely and provide appropriate care to ensure a full recovery. By understanding TTN and its management, healthcare professionals can provide the best possible care for newborns with this condition.

There are several congenital conditions that can affect the digestive system in newborns. Oesophageal atresia is a rare condition where the oesophageal tube is interrupted, leading to a blind-ended pouch. This can cause aspiration of milk in the lungs and respiratory distress. Duodenal atresia is another congenital condition that can cause obstruction in the duodenum. It is usually detected before birth and is associated with polyhydramnios. Annular pancreas is a rare disorder where a ring of pancreas surrounds the second part of the duodenum, leading to duodenal obstruction. Infantile pyloric stenosis is a result of a hypertrophied and hyperplastic pyloric muscle, causing gastric outlet obstruction. Midgut malrotation is a disrupted development of the bowel during embryonic development, which can present with an acute volvulus in the first year of life. These conditions require prompt medical attention and may require surgical intervention.

Medical Procedures and Interventions for Infantile Hypertrophic Pyloric Stenosis

Infantile hypertrophic pyloric stenosis is a condition that affects male infants more commonly than females, with an incidence of 1-4 per 1000 infants. It presents with projectile, non-bilious vomiting at 4-8 weeks of age, and a palpable pyloric mass in the right upper quadrant in up to 80% of patients. This condition occurs due to hypertrophy and hyperplasia of the pylorus, leading to gastric outlet obstruction and subsequent vomiting. Diagnosis is made via ultrasound, with a hypertrophied muscle having a target lesion appearance and muscle thickness of >3 mm considered abnormal.

The standard treatment for infantile hypertrophic pyloric stenosis is a Ramstedt pyloromyotomy, where an incision is made into the pyloric muscle down to the mucosa, which is left intact. This procedure is safe, with a low rate of complications such as gastroenteritis, wound infection, peritonitis, mucosal perforation, and residual stenosis.

Other interventions for related conditions include positioning the infant in the 30-degree head-up prone position after feeds to reduce gastro-oesophageal reflux symptoms, a Billroth-1 operation where the pylorus of the stomach is resected and an anastomosis is formed between the proximal stomach and duodenum, a Negus hydrostatic bag used in oesophageal achalasia to dilate the narrowed oesophagus and overcome the achalasia, and thickening of feeds to reduce symptoms related to gastro-oesophageal reflux.

In conclusion, infantile hypertrophic pyloric stenosis and related conditions can be effectively treated with various medical procedures and interventions.

Socioeconomic deprivation, maternal alcohol/tobacco use, and maternal age under 20 are all associated with gastroschisis.

While gastroschisis and omphalocele have similar presentations, gastroschisis refers to a defect located to the side of the umbilicus, while omphalocele refers to a defect in the umbilicus itself.

Foetal alcohol syndrome is characterized by a small head, flattened philtrum, and thin upper lip.

Anencephaly is a neural tube defect that results in the absence of the brain, skull, and scalp.

Gastroschisis and exomphalos are both types of congenital visceral malformations. Gastroschisis refers to a defect in the anterior abdominal wall located just beside the umbilical cord. In contrast, exomphalos, also known as omphalocoele, involves the protrusion of abdominal contents through the anterior abdominal wall, which are covered by an amniotic sac formed by amniotic membrane and peritoneum.

When it comes to managing gastroschisis, vaginal delivery may be attempted, but newborns should be taken to the operating theatre as soon as possible after delivery, ideally within four hours. As for exomphalos, a caesarean section is recommended to reduce the risk of sac rupture. In cases where primary closure is difficult due to lack of space or high intra-abdominal pressure, a staged repair may be undertaken. This involves allowing the sac to granulate and epithelialise over several weeks or months, forming a shell. As the infant grows, the sac contents will eventually fit within the abdominal cavity, at which point the shell can be removed and the abdomen closed.

Overall, both gastroschisis and exomphalos require careful management to ensure the best possible outcome for the newborn. By understanding the differences between these two conditions and the appropriate steps to take, healthcare professionals can provide effective care and support to both the infant and their family.

Indomethacin is the preferred treatment for patent ductus arteriosus (PDA) in newborns, administered postnatally rather than antenatally to the mother. PDA is a congenital heart condition characterized by a left-right shunt where blood flows from the aorta to the pulmonary vessel through the patent ductus arteriosus. Although newborns with PDA may appear normal, a continuous machine-like murmur can be detected upon auscultation. Premature babies are more likely to have PDA, which may spontaneously close in asymptomatic patients. Symptomatic babies undergo an echocardiogram a few days after birth to determine whether medical or surgical management is necessary. Medical management involves administering indomethacin or ibuprofen to the newborn, while prophylactic treatment immediately after delivery or administering medication to the mother has no role in PDA closure. Prostaglandin analogues can maintain ductus arteriosus patency after birth and are useful in managing certain congenital heart diseases.

Patent ductus arteriosus is a type of congenital heart defect that is typically classified as ‘acyanotic’. However, if left untreated, it can eventually lead to late cyanosis in the lower extremities, which is known as differential cyanosis. This condition is caused by a connection between the pulmonary trunk and descending aorta that fails to close with the first breaths due to increased pulmonary flow that enhances prostaglandins clearance. Patent ductus arteriosus is more common in premature babies, those born at high altitude, or those whose mothers had rubella infection during the first trimester of pregnancy.

The features of patent ductus arteriosus include a left subclavicular thrill, a continuous ‘machinery’ murmur, a large volume, bounding, collapsing pulse, a wide pulse pressure, and a heaving apex beat. To manage this condition, indomethacin or ibuprofen is given to the neonate, which inhibits prostaglandin synthesis and closes the connection in the majority of cases. If patent ductus arteriosus is associated with another congenital heart defect that is amenable to surgery, then prostaglandin E1 is useful to keep the duct open until after surgical repair.