Day: April 9, 2024

Pyloric stenosis

Introduction Pyloric stenosis or infantile hypertrophic pyloric stenosis (IHPS) is a narrowing of the pylorus leading to intestinal obstruction in infants. it is caused by hypertrophy and hyperplasia of the pylorus (a muscular valve sitting between the stomach and duodenum). It classically presents with projectile non-bilious vomiting in infants 2-8 weeks old. Surgical management with a pyloromyotomy (Ramstedt’s or laparoscopic) normally results in full resolution and minimal morbidity. Epidemiology The incidence of IHPS is estimated to be 1 in 500 live births. Figures vary from study to study and there appears to be a gradual decrease in the incidence of IHPS. A review

Perthes’ disease

Introduction Perthes’ disease affects the hip joint in children and is characterised by idiopathic avascular necrosis of the femoral epiphysis and resulting structural changes. Fully titled Legg–Calvé–Perthes disease after three physicians who independently and simultaneously described the condition, it most commonly presents in children aged 3-12 with features of atraumatic groin/hip pain, limp and stiffness. Though normally unilateral, up to 10-20% of cases are bilateral. The aetiology of Perthes’ disease is not yet understood. As described above it is characterised by idiopathic avascular necrosis of the femoral epiphysis. It is important to have a firm understanding of these terms: Idiopathic: means the

Neonatal jaundice

Overview Jaundice is one of the most common medical conditions affecting neonates. Jaundice refers to the yellow discolouration of skin and mucous membranes that occurs due to an increase in the level of bilirubin. Bilirubin is one of the main breakdown products of haemoglobin, which is the oxygen carrying molecule in our red blood cells. Neonatal jaundice refers to jaundice that occurs in preterm or term babies within the first month of life (the neonatal period). It may be a normal physiological response or due to a pathological disorder with serious consequences. Due to the potential short and long-term consequences of

Mesenteric adenitis

Overview Mesenteric adenitis refers to acute or chronic inflammation of the mesenteric lymph nodes. Mesenteric adenitis (or lymphadenitis) is a common cause of abdominal pain in children. There is usually acute or chronic self-limiting inflammation of the mesenteric lymph nodes that leads to enlargement and associated pain. It is most commonly secondary to a viral infection. It can be difficult to differentiate mesenteric adenitis from acute appendicitis as the inflamed nodes are typically located in the right iliac fossa. In some cases, it may be necessary to proceed to an operation (e.g. laparoscopy) to be able to differentiate between the two.

Measles

Overview Measles is a highly contagious viral infection caused by the measles morbillivirus. Measles is a viral infection that was very common in childhood before the introduction of an effective immunisation programme. In countries where the measles vaccine is not part of a national immunisation programme it is still very prevalent. Measles causes a classic presentation of fever, coryzal symptoms, and conjunctivitis followed by an exanthem. An exanthem is a widespread rash that usually occurs with systemic symptoms (e.g. fever). When it occurs in association with a virus it is known as a ‘viral exanthem’ and other common causes include rubella,

Intussusception

Introduction Intussusception is the telescoping of intestine into a neighbouring segment, most frequently seen in infants and young children. It is a common abdominal emergency in infants and young children, typically occurring between the ages of 3 months and 3 years. Patients present with distress and severe abdominal pain often accompanied by vomiting and bloody stools. The mesentery of the telescoped segment of intestine is impaired leading to reduced venous and lymphatic outflow. Intestinal oedema, obstruction and ischaemia develop. Early diagnosis and appropriate management are essential to obtaining good outcomes. The majority of patients can be managed with non-operative reduction (with

Henoch-Schönlein purpura

Introduction Henoch-Schönlein purpura is an IgA vasculitis, which commonly presents in childhood. Henoch-Schönlein purpura (HSP) is the most common vasculitis of childhood. Approximately, 90% of cases occur in children. The condition commonly presents in children aged 3-15 years old with an annual incidence of 20 per 100,000 in children aged < 17 years old. HSP is usually precipitated by a viral illness, leading to an immune-mediated reaction in blood vessels. The majority of cases are self-limiting without longterm sequelae. Similar to other vasculitidies, it is characterised by the presence of purpura. This refers to small haemorrhages within the skin approximately

Hand, foot and mouth disease

Definition & classification Hand, foot and mouth disease (HFMD) is an acute viral illness, which is usually mild and self-limiting. The disease is characterised by papulovesicular lesions on the distal limbs and vesicular eruptions in the mouth. HFMD occurs worldwide. In temperate climates (including the UK) it is most common in late summer and early autumn. It presents either in outbreaks or as sporadic cases. Outbreaks occur frequently in schools and nurseries, and it often spreads within families. It occurs most typically in children under 10 years of age, and most commonly in those under 4 years of age. Hand, foot & mouth

Down syndrome

Introduction Down syndrome (DS) is a genetic condition caused by trisomy 21. Trisomy 21 is a genetic condition that refers to an additional copy of the 21st chromosome. This condition is commonly known as Down syndrome and it is the most common chromosomal abnormality amongst liveborn children. The additional genetic material leads to characteristic physical features of the head, neck, and extremities. Some of these features are universal, whereas others are more variable among people with Down syndrome. Though intellectual disability is almost universal, the degree is highly variable. Educational, speech, and language support should be offered and tailored to each individual’s

Developmental milestones

Overview A developmental milestone refers to a specific set of abilities a child should reach by a certain age. Childhood development refers to a continuous and largely predictable process that involves biological, psychological, and emotional changes that occur from birth to the end of adolescence. The sequence of events can be described in ‘milestones’. Milestones refer to a specific set of abilities a child should reach by a certain age. These milestones start off simple and then as the child gets older they become more complex. Milestones are divided into key domains, which include: Gross motor: using large muscle groups to

Developmental delay

Overview Developmental delay broadly refers to children < 5 years old who fail to meet expected milestones. Developmental delay is the failure to achieve developmental milestones in comparison to peers of the same age range. This is generally defined as being more than two standard deviations below the mean. The core developmental milestone domains include: Gross motor Fine motor/vision Speech/language Social/emotional Cognitive Developmental delay is not a diagnosis. Instead, it is a descriptive term that requires further investigation into the possible cause of the delay. A delay may be isolated occurring in a single domain. When a significant delay occurs in

Chickenpox

Overview Chickenpox is a highly contagious viral illness that causes a classic vesicular rash. Chickenpox is predominantly an illness of childhood that is caused by the varicella-zoster virus (VZV). It causes a highly contagious vesicular rash that is managed symptomatically in the majority of cases. In children, chickenpox is most commonly a benign self-limiting illness. However, in adults or those immunosuppressed, it can cause a severe illness with severe complications (e.g. varicella pneumonia). Varicella-zoster virus VZV is one of the human herpes viruses that is the cause of both chickenpox and shingles. The human herpes viruses are a large family of DNA viruses that

Cerebral palsy

Overview Cerebral palsy is a broad term for a group of permanent motor disorders that affect muscle tone, posture, and/or movement. Cerebral palsy (CP) describes any non-progressive disorder of motor function that results from malformation or damage to the early developing brain. Therefore, it is an umbrella term for a heterogeneous group of conditions that cause permanent motor dysfunction due to injury in the prenatal, perinatal or early postnatal period. CP may occur alongside other major disorders of sensation, perception, cognition, communication, and behaviour. CP is commonly multifactorial due to an acquired pathology (although some hereditary factors can increase the risk

Bronchiolitis

Introduction Acute bronchiolitis is the most common cause of lower respiratory tract infection in children under the age of 2. Children typically present with a coryzal prodrome followed by cough, reduced oral intake and possible dehydration, increased work of breathing and on auscultation, crepitations and wheeze. Infection follows a seasonal pattern peaking during the winter months, and is most commonly caused by the respiratory synctial virus (RSV). Symptoms are usually mild lasting only a few days, but in some cases hospital admission may be required. Management of bronchiolitis consists of supportive measures such as ensuring adequate hydration and temperature control. In a

Biliary atresia

Overview Biliary atresia refers to progressive destruction of the extrahepatic biliary system. Biliary atresia presents exclusively in the neonatal period with biliary obstruction. It is due to progressive destruction of the extrahepatic biliary system. The cause is idiopathic and may be associated with other congenital malformations. It is the most common reason for surgical intervention in neonatal jaundice and the most common cause of liver transplantation in children. The incidence is around 1 in 10,000-20,000 live births. Without surgical intervention to fix the obstruction, the condition is invariably fatal. Aetiology and pathophysiology The cause of biliary atresia is idiopathic. Biliary atresia is

Acute epiglottitis

Overview Acute epiglottitis refers to inflammation of the epiglottis and surrounding supraglottic mucosa. It can be a life-threatening condition due to airway obstruction. Thankfully, acute epiglottitis is now rare in children due to the introduction of the Haemophilus influenzae type B (Hib) vaccination as part of the routine immunisation programme. In adults, the incidence is estimated at 1-4 per 100,000 people. In children, the median age at presentation has increased to 6-12 years (traditionally affected children 2-5 years old). Children who have not been vaccinated are at particular risk. Basic anatomy The epiglottis is a thin layer of elastic cartilage that sits at the base of the

Visual field defects

Overivew A visual field defect is a loss of part of the usual field of vision. The visual field describes the area that can be seen by an individual with their eyes fixed on a single point. Our normal field of vision is typically 135º vertically and 180º horizontally (160º for monocular vision). The visual fields can be divided into two components: Left visual field: detected by the right temporal retinal fibres (outer) and left nasal retinal fibres (inner) Right visual field: detected by the left temporal retinal fibres (outer) and right nasal retinal fibres (inner) The nasal fields of vision

Uveitis

Overview Uveitis refers to inflammation of the middle layer of the eye known as the uvea that includes the iris, choroid, and ciliary body. Uveitis refers to a group of conditions that cause inflammation of the pigmented middle layer of the eye known as the uvea. There are different types of uveitis depending on the area of the uvea affected which may be unilateral or bilateral. Anterior uveitis is the most common form, which classically causes a painful red eye, whereas posterior uveitis more typically causes visual changes, floaters, and flashing lights. Patients with suspected uveitis should be referred to an ophthalmologist

Optic neuritis

Overview Optic neuritis refers to inflammation of the optic nerve secondary to demyelination that leads to acute visual loss. Optic neuritis is an inflammatory condition of the optic nerve that characteristically leads to acute, unilateral, central loss of vision. The visual loss usually occurs over hours to days and is associated with ocular pain that is worse on movement. Optic neuritis may be isolated or part of a wider neurological disorder such as multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), or myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease. It is the presenting feature of MS in up to 20% of cases. The

Open-angle glaucoma

Introduction Glaucoma refers to a collection of disorders resulting in progressive optic neuropathy in which raised intraocular pressure is typically a key factor. Glaucoma Glaucoma is a common pathology affecting the eye that untreated can result in significant loss of vision. Worldwide it is the leading cause of irreversible blindness with 66 million affected, 12.5 million of whom are blind. In the UK it is responsible for around 10% of those registered blind. There are two major forms of glaucoma (and a related condition ocular hypertension): Open-angle glaucoma: Characterised by a normal angle between the iris and cornea. It is divided into primary and

Keratitis

Overview Keratitis is a broad clinical term that refers to inflammation of the cornea. The cornea is the transparent dome-shaped structure at the front of the eye that is continuous with the sclera. Keratitis refers to inflammation of the cornea, which is commonly secondary to an infectious cause (e.g. viral, bacterial, fungal). Keratitis is characterised by pain, redness, irritation, photophobia, and in more severe cases, reduced visual acuity. Without prompt treatment, patients can develop corneal ulcers, and with certain aetiologies such as bacterial keratitis, sight can be threatened. Infectious keratitis is often used interchangeably with the term corneal ulcer as the

Infective conjunctivitis

Overview Infective conjunctivitis refers to conjunctival inflammation occurring secondary to viral, bacterial or parasitic infection. Patients with conjunctivitis often present with discomfort, eye discharge and conjunctival erythema. The infections may be acute or chronic: Acute: features resolve within four weeks Chronic: features persist for more than four weeks Infections are typically self-limiting, resolving without long-term sequelae, and can be managed in primary care. In certain circumstances or where there is diagnostic uncertainty referral to ophthalmology may be warranted. Figures from NICE CKS (last accessed Nov 2021). Epidemiology Infective conjunctivitis is very common, accounting for an estimated 1% of all GP consultations. The causative aetiology differs depending on age

Episcleritis and scleritis

Overview Episcleritis and scleritis are separate conditions that are due to inflammation of the sclera. The sclera is the white of the eye that provides structural support and is divided into different layers. Episcleritis and scleritis and two related, but separate, conditions that result from inflammation of the sclera. Episcleritis: inflammation of the superficial episcleral layer Scleritis: inflammation of the sclera that usually occurs in the anterior portion Both conditions can lead to a red painful eye, but importantly episcleritis does not progress to scleritis. Episcleritis is a common, benign, and usually self-limiting condition. It usually resolves within 1-2 weeks and

CRAO

Overview Central retinal artery occlusion leads to sudden onset, painless, loss of vision. Central retinal artery occlusion (CRAO) was originally described in the 19th century in the context of infective endocarditis. CRAO is due to occlusion of the central retinal artery, which causes ischaemia of the retina and sudden monocular visual loss. It is considered an ophthalmic emergency and essentially a type of stroke affecting the retinal artery. Epidemiology CRAO is rare, estimated to affect 1-10 per 100,000 people. CRAO is more commonly seen in patients with traditional cardiovascular risk factors (e.g. diabetes, hypertension, smoking). It is more likely in older

Cataracts

Overview Cataracts occur due to opacification of the lens and are a major cause of blindness worldwide. The lens is a clear, biconvex structure situated in the anterior portion of the eye. It lies posterior to the iris but anterior to the vitreous body. It is composed of a capsule, epithelium, cortex and nucleus. It is held in place by the suspensory ligaments that are attached to the ciliary bodies. The lens is needed for normal vision and plays an important role in refraction and accommodation: Refraction: refers to the change in direction of light when it passes from one medium to another. Helps to converge light onto the retina.

Blepharitis

Overview Blepharitis refers to inflammation of the eyelid margins. Blepharitis refers to inflammation of the eyelid margins and may be divided into two types: Anterior blepharitis: affects the eyelashes. Most commonly due to seborrhoeic dermatitis and bacterial infections (e.g. Staphylococcus). Posterior blepharitis: affects the meibomian glands. These line the posterior eyelid margin and secrete the lipid part of the tear film. Blepharitis most commonly presents as a chronic condition. The mean age of affected patients is 50 years old. It is a clinical diagnosis based on the history and examination with the most common symptoms being a gritty or burning sensation

Angle-closure glaucoma

Introduction Glaucoma refers to a collection of disorders resulting in progressive optic neuropathy in which raised intraocular pressure is typically a key factor. Glaucoma Glaucoma is a common pathology affecting the eye that untreated can result in significant loss of vision. Worldwide it is the leading cause of irreversible blindness with 66 million affected, 12.5 million of whom are blind. In the UK it is responsible for around 10% of those registered blind. There are two major forms of glaucoma (and a related condition ocular hypertension): Open-angle glaucoma: characterised by a normal angle between the iris and cornea. It is divided into primary