Although not a typical reason for macrocephaly, children diagnosed with Fragile X syndrome often exhibit an enlarged head size.

Understanding Microcephaly: Causes and Definitions

Microcephaly is a condition characterized by a smaller than average head circumference, with measurements falling below the 2nd percentile. While some cases may be attributed to normal variation or familial traits, other causes include congenital infections, perinatal brain injury, fetal alcohol syndrome, and syndromes such as Patau and craniosynostosis.

In some cases, microcephaly may simply be a variation of normal development, with no underlying medical concerns. However, when it is caused by other factors, it can lead to developmental delays, intellectual disability, and other neurological issues.

It is important to note that microcephaly is not a disease in and of itself, but rather a symptom of an underlying condition. As such, it is crucial to identify and address the root cause of microcephaly in order to provide appropriate treatment and support for affected individuals.

Diagnostic Tests for Duchenne Muscular Dystrophy and Wilson’s Disease

Duchenne muscular dystrophy (DMD) and Wilson’s disease are two conditions that can present with non-specific symptoms. Here, we discuss the diagnostic tests used to identify these conditions.

DMD is an X-linked recessive condition that predominantly affects males. Diagnosis is usually made by significantly elevated creatine kinase levels and genetic testing. Muscle biopsy may also be required. Symptoms usually present by age three and include delayed walking, muscle weakness, pseudohypertrophy of calf muscles, and learning difficulties. An MRI spine or head is not helpful in diagnosis as DMD is not caused by a central nervous system or spinal pathology.

Wilson’s disease often presents with signs of liver failure and non-specific symptoms such as tiredness, weight loss, and abdominal pain. Neurological symptoms such as tremors, loss of motor skills, and behavioural problems are more common in teenagers and adults. Diagnosis is made by measuring serum caeruloplasmin levels and genetic testing.

In summary, elevated creatine kinase levels and genetic testing are used to diagnose DMD, while serum caeruloplasmin levels and genetic testing are used to diagnose Wilson’s disease. MRI scans are not helpful in the diagnosis of either condition.

The RCGP has previously provided feedback that doctors are required to have knowledge of emergency medication dosages, with a specific emphasis on suspected cases of meningococcal septicaemia.

Paediatric Drug Doses for Emergency Situations

When it comes to prescribing drugs for children in emergency situations, it is important to consult the current British National Formulary (BNF) beforehand. However, as a guide, the following doses can be used for intramuscular (IM) benzylpenicillin in suspected cases of meningococcal septicaemia in the community. For children under one year old, the dose is 300 mg. For children between one and ten years old, the dose is 600mg. For children over ten years old, the dose is 1200mg. It is important to note that these doses are only a guide and should be adjusted based on the individual child’s weight and medical history. Always consult with a healthcare professional before administering any medication to a child.

The use of cephalosporins during breastfeeding is deemed to be safe.

Breastfeeding has some contraindications that are important to know, especially when it comes to drugs. Antibiotics like penicillins, cephalosporins, and trimethoprim are safe for breastfeeding mothers, as are endocrine drugs like glucocorticoids (in low doses) and levothyroxine. Epilepsy drugs like sodium valproate and carbamazepine, asthma drugs like salbutamol and theophyllines, and hypertension drugs like beta-blockers and hydralazine are also safe. Anticoagulants like warfarin and heparin, as well as digoxin, are also safe. However, some drugs should be avoided, such as antibiotics like ciprofloxacin, tetracycline, chloramphenicol, and sulphonamides, psychiatric drugs like lithium and benzodiazepines, aspirin, carbimazole, methotrexate, sulfonylureas, cytotoxic drugs, and amiodarone. Other contraindications include galactosaemia and viral infections, although the latter is controversial in the developing world due to the increased risk of infant mortality and morbidity associated with bottle feeding.

The symptoms of measles include prodromal symptoms, Koplik spots, and a maculopapular rash that starts behind the ears. Kawasaki’s disease is identified by a fever lasting more than five days, along with conjunctivitis, cervical lymphadenopathy, a strawberry tongue, rash, and desquamation of digits. Chickenpox is characterized by the presence of vesicles, while scarlet fever is identified by a sandpaper rash and a strawberry tongue.

Measles: A Highly Infectious Viral Disease

Measles is a viral disease caused by an RNA paramyxovirus. It is one of the most infectious known viruses and is spread through aerosol transmission. The disease has an incubation period of 10-14 days and is infective from the prodromal phase until four days after the rash starts. Measles is now rare in developed countries due to immunization programs, but outbreaks can occur when vaccination rates drop, such as during the MMR controversy of the early 2000s.

The disease is characterized by a prodromal phase, which includes irritability, conjunctivitis, fever, and Koplik spots. The latter typically develop before the rash and are white spots on the buccal mucosa. The rash starts behind the ears and then spreads to the whole body, becoming a discrete maculopapular rash that may become blotchy and confluent. Desquamation may occur after a week, typically sparing the palms and soles. Diarrhea occurs in around 10% of patients.

Measles is mainly managed through supportive care, and admission may be considered in immunosuppressed or pregnant patients. The disease is notifiable, and public health should be informed. Complications of measles include otitis media, pneumonia (the most common cause of death), encephalitis (typically occurring 1-2 weeks following the onset of the illness), subacute sclerosing panencephalitis (very rare, may present 5-10 years following the illness), febrile convulsions, keratoconjunctivitis, corneal ulceration, diarrhea, increased incidence of appendicitis, and myocarditis.

If an unimmunized child comes into contact with measles, MMR should be offered within 72 hours. Vaccine-induced measles antibody develops more rapidly than that following natural infection.

The symptoms exhibited by the child indicate erythema infectiosum, which is caused by an infection with parvovirus B19. Most pregnant women have immunity to this virus and it typically does not pose a risk. However, in rare cases, infection during the first trimester has been associated with hydrops fetalis, which can lead to miscarriage.

Parvovirus B19: A Virus with Various Clinical Presentations

Parvovirus B19 is a DNA virus that can cause different clinical presentations. One of the most common is erythema infectiosum, also known as fifth disease or slapped-cheek syndrome. This illness may manifest as a mild feverish condition or a noticeable rash that appears after a few days. The rash is characterized by rose-red cheeks, which is why it is called slapped-cheek syndrome. It may spread to the rest of the body but rarely involves the palms and soles. The rash usually peaks after a week and then fades, but for some months afterwards, a warm bath, sunlight, heat, or fever may trigger a recurrence of the bright red cheeks and rash. Most children recover without specific treatment, and school exclusion is unnecessary as the child is not infectious once the rash emerges. However, in adults, the virus may cause acute arthritis.

Aside from erythema infectiosum, parvovirus B19 can also present as asymptomatic, pancytopenia in immunosuppressed patients, aplastic crises in sickle-cell disease, and hydrops fetalis. The virus suppresses erythropoiesis for about a week, so aplastic anemia is rare unless there is a chronic hemolytic anemia. In pregnant women, the virus can cross the placenta and cause severe anemia due to viral suppression of fetal erythropoiesis, which can lead to heart failure secondary to severe anemia and the accumulation of fluid in fetal serous cavities (e.g. ascites, pleural and pericardial effusions). This condition is treated with intrauterine blood transfusions.

It is important to note that the virus can affect an unborn baby in the first 20 weeks of pregnancy. If a woman is exposed early in pregnancy (before 20 weeks), she should seek prompt advice from her antenatal care provider as maternal IgM and IgG will need to be checked. The virus is spread by the respiratory route, and a person is infectious 3 to 5 days before the appearance of the rash. Children are no longer infectious once the rash appears, and there is no specific treatment. Therefore, the child need not be excluded from school as they are no longer infectious by the time the rash occurs.

Withholding fluids for 2 hours before bedtime is not recommended as part of enuresis management. While limiting fluid intake throughout the day and before bedtime, especially caffeinated drinks, is advised, completely withholding fluids is not recommended. Referring the patient for sleep studies is not the most appropriate management at this stage, although other conditions that can worsen enuresis, such as sleep-disordered breathing, should be considered. Desmopressin, an analogue of anti-diuretic hormone (ADH), is not indicated at this stage and is only used when general advice and enuresis alarm have failed. The primary goal of management is to achieve dry nights at follow-up.

Nocturnal enuresis, or bedwetting, is when a child involuntarily urinates during the night. Most children achieve continence by the age of 3 or 4, so enuresis is defined as the involuntary discharge of urine in a child aged 5 or older without any underlying medical conditions. Enuresis can be primary, meaning the child has never achieved continence, or secondary, meaning the child has been dry for at least 6 months before.

When managing bedwetting, it’s important to look for any underlying causes or triggers, such as constipation, diabetes mellitus, or recent onset UTIs. General advice includes monitoring fluid intake and encouraging regular toileting patterns, such as emptying the bladder before sleep. Reward systems, like star charts, can also be helpful, but should be given for agreed behavior rather than dry nights.

The first-line treatment for bedwetting is an enuresis alarm, which has a high success rate. These alarms have sensor pads that detect wetness and wake the child up to use the toilet. If short-term control is needed, such as for sleepovers, or if the alarm is ineffective or not acceptable to the family, desmopressin may be prescribed. Overall, managing bedwetting involves identifying any underlying causes and implementing strategies to promote continence.

Diagnosing Glandular Fever: Understanding Symptoms and Differential Diagnosis

Glandular fever, also known as infectious mononucleosis, is a viral illness that can cause a range of symptoms, including fever, sore throat, fatigue, and swollen lymph nodes. One common symptom is the development of a maculopapular rash, which can be triggered by taking penicillin. However, it is important to consider other potential diagnoses and rule out conditions such as dermatitis herpetiformis, allergy to penicillin, herpes zoster, and streptococcal throat infection.

To confirm a diagnosis of glandular fever, healthcare providers may perform a full blood count to check for lymphocytosis and atypical lymphocytes. Epstein-Barr virus (EBV) serology may also be tested in certain cases. Treatment for glandular fever is primarily supportive, and patients are advised to avoid contact sports to reduce the risk of splenic rupture.

By understanding the symptoms and differential diagnosis of glandular fever, healthcare providers can accurately diagnose and manage this viral illness.

If a child shows a preference for one hand before the age of 12 months, it may be a sign of cerebral palsy and should be addressed promptly. The appropriate course of action is to refer the child to a child development service for a comprehensive evaluation by a multidisciplinary team. Children with cerebral palsy typically receive specialized care from birth, but in some cases, the condition may be suspected in a primary care setting. According to NICE guidelines, delayed motor milestones such as not sitting by 8 months (adjusted for gestational age), not walking by 18 months (adjusted for gestational age), early asymmetry of hand function, and persistent toe-walking may indicate cerebral palsy. In this case, as the child is exhibiting hand preference before the age of 1 year and has a risk factor for cerebral palsy (low birth weight), an urgent referral is necessary. Other options are not appropriate and may delay diagnosis and treatment.

Common Developmental Problems and Possible Causes

Developmental problems can manifest in various ways, including referral points such as not smiling at 10 weeks, inability to sit unsupported at 12 months, and failure to walk at 18 months. Fine motor skill problems may also arise, such as abnormal hand preference before 12 months, which could indicate cerebral palsy. Gross motor problems are often caused by a variant of normal, cerebral palsy, or neuromuscular disorders like Duchenne muscular dystrophy. Speech and language problems should always be checked for hearing issues, as they can also be caused by environmental deprivation or general development delay.

It is important to recognize these developmental problems early on and seek appropriate interventions to address them. By doing so, children can receive the necessary support to reach their full potential and overcome any challenges they may face. With proper care and attention, many children with developmental problems can go on to lead happy and fulfilling lives.

To prevent respiratory syncytial virus (RSV) in children who are at a higher risk of severe disease, palivizumab, a monoclonal antibody, is administered. Infants who are premature, have lung or heart abnormalities, or are immunocompromised are among those at risk of developing RSV.

Bronchiolitis is a condition where the bronchioles become inflamed, and it is most commonly caused by respiratory syncytial virus (RSV). This virus is responsible for 75-80% of cases, with other causes including mycoplasma and adenoviruses. Bronchiolitis is most prevalent in infants under one year old, with 90% of cases occurring in those aged 1-9 months. The condition is more serious in premature babies, those with congenital heart disease or cystic fibrosis. Symptoms include coryzal symptoms, dry cough, increasing breathlessness, and wheezing. Hospital admission is often necessary due to feeding difficulties associated with increasing dyspnoea.

Immediate referral is recommended if the child has apnoea, looks seriously unwell, has severe respiratory distress, central cyanosis, or persistent oxygen saturation of less than 92% when breathing air. Clinicians should consider referral if the child has a respiratory rate of over 60 breaths/minute, difficulty with breastfeeding or inadequate oral fluid intake, or clinical dehydration. Immunofluorescence of nasopharyngeal secretions may show RSV, and management is largely supportive. Humidified oxygen is given via a head box if oxygen saturations are persistently low, and nasogastric feeding may be necessary if children cannot take enough fluid/feed by mouth. Suction may also be used for excessive upper airway secretions. NICE released guidelines on bronchiolitis in 2015 for more information.

It is common for children under the age of 3 to have bow legs, which is considered a normal variation. Typically, this condition resolves on its own by the time the child reaches 4 years old.

Common Lower Limb Variants in Children

Parents often become concerned when they notice apparent abnormalities in their child’s lower limbs. This can lead to a visit to their primary care physician and a referral to secondary care. However, many of these presentations are actually normal variants that will resolve on their own.

One common variant is flat feet, where the child’s medial arch is absent when standing. This typically resolves between the ages of 4-8 years and does not require orthotics. In-toeing is another common presentation, which can be caused by metatarsus adductus, internal tibial torsion, or femoral anteversion. Most cases resolve spontaneously, but severe or persistent cases may require intervention. Out-toeing is also common in early infancy and usually resolves by the age of 2 years.

Bow legs, or genu varum, is another normal variant that presents in the first or second year of life. This is characterized by an increased intercondylar distance and typically resolves by the age of 4-5 years. Knock knees, or genu valgum, presents in the third or fourth year of life and is characterized by an increased intermalleolar distance. This also typically resolves spontaneously.

Overall, it is important for parents to be aware of these common lower limb variants in children and to seek medical advice if they have concerns. However, in many cases, parental reassurance and monitoring is all that is needed.

The egg ladder can be used to reintroduce egg in children with non-IgE mediated allergy, starting with baked egg in biscuits. Chlorpheniramine and adrenaline pen are not appropriate choices.

Identifying and Managing Food Allergies in Children and Young People

Food allergies in children and young people can be categorized into IgE-mediated and non-IgE-mediated allergies. It is important to note that food intolerance is not caused by immune system dysfunction and is not covered by the 2011 NICE guidelines. Symptoms of IgE-mediated allergies include skin reactions such as pruritus, erythema, urticaria, and angioedema, gastrointestinal symptoms like nausea, colicky abdominal pain, vomiting, and diarrhea, and respiratory symptoms such as nasal itching, sneezing, rhinorrhea, congestion, cough, chest tightness, wheezing, and shortness of breath. Non-IgE-mediated allergies may present with symptoms like gastro-oesophageal reflux disease, loose or frequent stools, blood and/or mucus in stools, abdominal pain, infantile colic, food refusal or aversion, constipation, perianal redness, pallor and tiredness, and faltering growth.

If the history suggests an IgE-mediated allergy, skin prick tests or blood tests for specific IgE antibodies to the suspected foods and likely co-allergens should be offered. On the other hand, if the history suggests a non-IgE-mediated allergy, the suspected allergen should be eliminated for 2-6 weeks and then reintroduced. It is recommended to consult a dietitian with appropriate competencies about nutritional adequacies, timings, and follow-up. By identifying and managing food allergies in children and young people, we can prevent severe allergic reactions and improve their quality of life.

Macrosomia is more likely to occur in individuals with diabetes than microsomia.

Complications of Diabetes during Pregnancy

Diabetes during pregnancy can lead to various complications for both the mother and the baby. Maternal complications may include polyhydramnios, which occurs in 25% of cases and may be due to fetal polyuria. Preterm labor is also a common complication, occurring in 15% of cases and often associated with polyhydramnios.

Neonatal complications may include macrosomia, although diabetes can also cause small for gestational age babies. Hypoglycemia is another potential complication, which can occur due to beta cell hyperplasia. Respiratory distress syndrome may also occur, as surfactant production is delayed. Polycythemia, which leads to more neonatal jaundice, is also a possibility.

Malformation rates may increase 3-4 fold, with sacral agenesis, CNS and CVS malformations (hypertrophic cardiomyopathy) being some of the potential risks. Stillbirth is also a possibility. Hypomagnesemia and hypocalcemia may occur, and shoulder dystocia may cause Erb’s palsy.

Transient tachypnoea of the newborn may be indicated by hyperinflation and fluid in the horizontal fissure on a chest x-ray. However, it is important to note that even if this condition is suspected, the baby should still be screened and treated for sepsis. This is because transient tachypnoea of the newborn is the most common cause of respiratory distress in neonates, but it typically resolves within 24-48 hours. Other conditions may present with different x-ray findings, such as ground glass appearance and low volume lungs in respiratory distress syndrome, or asymmetric patchy opacities in meconium aspiration syndrome. Additionally, a pneumothorax may be associated with mechanical ventilation but should be carefully evaluated in all chest x-rays.

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.

Management of Fever in a High-Risk Child

When managing a child with fever, it is important to consider their age and any accompanying symptoms. According to the NICE guideline on ‘Fever in under 5s’, children aged <3 months with a temperature of 38°C are at high risk for serious illness. In such cases, it is recommended to refer the child urgently to a paediatric specialist. Encouraging fluids may be useful, but it should not be relied upon to rule out serious underlying illness. Similarly, antipyretics may be given before the child is seen by the paediatric team, but it is important to consult the NICE guideline for appropriate dosages. Blind prescription of oral antibiotics or IM benzylpenicillin is not recommended without a clear source of infection and discussion with the on-call paediatric team. Therefore, it is crucial to refer high-risk children to the paediatric on-call team for further management.

Haemophilus influenzae type B is the cause of acute epiglottitis. Fortunately, this disease is now rare due to the inclusion of Hib in the childhood vaccination program since 1992. Hib can also lead to other severe infections like meningitis and septicaemia. Haemophilus influenzae type A is an uncommon illness. Staphylococcus aureus is known for causing skin infections like abscesses, respiratory infections such as sinusitis, and food poisoning. Streptococcus pneumoniae is a common cause of bronchitis, otitis media, and sinusitis.

Acute epiglottitis is a rare but serious infection caused by Haemophilus influenzae type B. It is important to recognize and treat it promptly as it can lead to airway obstruction. Although it was once considered a disease of childhood, it is now more common in adults in the UK due to the immunization program. The incidence of epiglottitis has decreased since the introduction of the Hib vaccine. Symptoms include a rapid onset, high temperature, stridor, drooling of saliva, and a tripod position where the patient leans forward and extends their neck to breathe easier. Diagnosis is made by direct visualization, but x-rays may be done to rule out a foreign body.

Immediate senior involvement is necessary, including those who can provide emergency airway support such as anaesthetics or ENT. Endotracheal intubation may be necessary to protect the airway. It is important not to examine the throat if epiglottitis is suspected due to the risk of acute airway obstruction. The diagnosis is made by direct visualization, but only senior staff who are able to intubate if necessary should perform this. Treatment includes oxygen and intravenous antibiotics.

Distinguishing between respiratory illnesses in children: A guide

When a child presents with respiratory symptoms, it can be difficult to determine the underlying cause. Here, we will discuss the key features of several common respiratory illnesses in children and how to differentiate between them.

Bronchiolitis is characterized by coryzal symptoms followed by a persistent cough, tachypnea, chest recession, and wheezing or crepitations on auscultation. A low-grade fever and reduced feeding may also be present.

Croup is a viral upper airway infection that causes a barking cough, predominantly inspiratory stridor, hoarse voice, intercostal or sternal indrawing, fever, and coryzal symptoms.

Asthma typically presents with shortness of breath, cough, wheeze, and chest tightness, and is more common in children over two years old.

Acute epiglottitis is an insidious but rapidly progressive airway emergency that causes fever, sore throat, odynophagia, muffled voice, dysphagia, dyspnea, respiratory distress, dysphonia, and stridor. The child may sit in a tripod position to maximize airway opening.

A viral upper respiratory tract infection may cause coryzal symptoms, cough, and fever, but crepitations on auscultation would not be expected.

By understanding the key features of these respiratory illnesses, healthcare providers can make a more accurate diagnosis and provide appropriate treatment.

Labial adhesions are typically caused by low levels of estrogen and are usually treated conservatively as they often resolve during puberty. However, if there are recurrent urinary tract infections, oestrogen creams may be considered as a treatment option. The use of trimethoprim pessary, IV dexamethasone, and oral prednisolone are not appropriate treatments for labial adhesions. It is important to address the adhesion as leaving it untreated can lead to complications.

Labial Adhesions: A Common Condition in Young Girls

Labial adhesions refer to the fusion of the labia minora in the middle, which is commonly observed in girls aged between 3 months and 3 years. This condition can be treated conservatively, and spontaneous resolution usually occurs around puberty. It is important to note that labial adhesions are different from an imperforate hymen.

Symptoms of labial adhesions include problems with urination, such as pooling in the vagina. Upon examination, thin semitranslucent adhesions covering the vaginal opening between the labia minora may be seen, which can sometimes cover the vaginal opening completely.

Conservative management is typically appropriate for most cases of labial adhesions. However, if there are associated problems such as recurrent urinary tract infections, oestrogen cream may be tried. If this fails, surgical intervention may be necessary.

In summary, labial adhesions are a common condition in young girls that can be managed conservatively. It is important to seek medical attention if symptoms persist or worsen.

If a newborn lacks red reflex, it is important to consider the possibility of retinoblastoma. Other causes should also be evaluated, but urgent referral to an ophthalmologist for a comprehensive, dilated eye examination is necessary.

Retinoblastoma is a prevalent type of eye cancer that is commonly found in children, with an average age of diagnosis at 18 months. It is caused by a loss of function of the retinoblastoma tumor suppressor gene on chromosome 13, which is inherited in an autosomal dominant pattern. About 10% of cases are hereditary. The most common presenting symptom is the absence of red-reflex, which is replaced by a white pupil (leukocoria). Other possible features include strabismus and visual problems.

When it comes to managing retinoblastoma, enucleation is not the only option. Depending on how advanced the tumor is, other treatment options include external beam radiation therapy, chemotherapy, and photocoagulation. The prognosis for retinoblastoma is excellent, with over 90% of patients surviving into adulthood.

Feeding intolerance, abdominal distension, and bloody stools are among the early signs of necrotising enterocolitis, which is a high risk for preterm babies. Gastroesophageal reflux disease (GORD) does not cause abdominal distension and bloody stools, while duodenal atresia typically presents with bilious vomiting within the first day of life and does not cause bloody stools. Although hospital-acquired infection is a possibility, given the clinical picture and preterm status, ruling out necrotising enterocolitis should be the priority.

Understanding Necrotising Enterocolitis

Necrotising enterocolitis is a serious condition that is responsible for a significant number of premature infant deaths. The condition is characterized by symptoms such as feeding intolerance, abdominal distension, and bloody stools. If left untreated, these symptoms can quickly progress to more severe symptoms such as abdominal discolouration, perforation, and peritonitis.

To diagnose necrotising enterocolitis, doctors often use abdominal x-rays. These x-rays can reveal a number of important indicators of the condition, including dilated bowel loops, bowel wall oedema, and intramural gas. Other signs that may be visible on an x-ray include portal venous gas, pneumoperitoneum resulting from perforation, and air both inside and outside of the bowel wall. In some cases, an x-ray may also reveal air outlining the falciform ligament, which is known as the football sign.

Overall, understanding the symptoms and diagnostic indicators of necrotising enterocolitis is crucial for early detection and treatment of this serious condition. By working closely with healthcare professionals and following recommended screening protocols, parents and caregivers can help ensure the best possible outcomes for premature infants at risk for this condition.