Drug withdrawal symptoms after a period of substance abuse can lead to a range of symptoms. Amphetamines are known to cause hypersomnia, hyperphagia, and irritability, as well as vivid dreams as a result of withdrawal. Similar symptoms are found in cocaine withdrawal. Alcohol withdrawal presents with symptoms such as insomnia, tremulousness and delirium. Ecstasy withdrawal includes irritation, mood swings, fatigue and insomnia. Heroin withdrawal presents with symptoms which include dilated pupils, insomnia, abdominal cramps and muscle aches. Withdrawal from prolonged cannabis use can cause depression, anxiety restlessness and insomnia.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in association with a distinct pattern of skin and mucosal macular melanin deposition (freckles on the lips, face, palms and soles). Patients with Peutz-Jeghers syndrome have an estimated 15-fold increased risk of developing intestinal cancer compared to the general population.Management: conservative unless complications develop.

Hyposplenism is associated with thrombocytosis. Other features of hyposplenism are: – Howell-Jolly bodies and acanthocytosis, occurring secondary to haemolysis.- Pappenheimer bodies: These are granular deposits of iron found within the RBCs.- Lymphocytosis and monocytosis.Causes for hyposplenism include:- Congenital asplenia- Iatrogenic splenectomy: Following trauma or treatment for ITP, thalassemia or spherocytosis).- Autosplenectomy: Secondary to sickle cell anaemia, coeliac disease, dermatitis herpetiformis, essential thrombocythemia or splenic arterial thrombosis).

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.

Mongolian spots, otherwise called congenital dermal melanocytosis, are pigmented birthmarks. They are usually located on the buttocks or back and although they’re usually present at birth, they may appear soon after. They are flat and have a blue-grey colour (bruise-like). They are benign and present no health risk.

6 month old milestones:Social and Emotional:Knows familiar faces and begins to know if someone is a stranger Likes to play with others, especially parents Responds to other people’s emotions and often seems happy Likes to look at self in a mirror Language/Communication:Responds to sounds by making sounds Strings vowels together when babbling (“ah,” “eh,” “oh”) and likes taking turns with parent while making sounds Responds to own name Makes sounds to show joy and displeasure Begins to say consonant sounds (jabbering with “m,” “b”) Cognitive (learning, thinking, problem-solving):Looks around at things nearby Brings things to mouth Shows curiosity about things and tries to get things that are out of reach Begins to pass things from one hand to the other Movement/Physical Development:Rolls over in both directions (front to back, back to front) Begins to sit without support When standing, supports weight on legs and might bounce Rocks back and forth, sometimes crawling backwards before moving forward

Omega-shaped epiglottis is a characteristic feature in the X-ray of a patient with laryngomalacia.

The boy had a renal transplant, for which he needs immune suppression. For the exogenous immune suppression an exogenous steroid is needed, which in this case is responsible for the primary Cushing syndrome manifesting with short stature. The administration of steroids before the physiological fusion of the growth plate can lead to premature fusion with permanent cessation of bone growth.

Turner syndrome is a genetic disease that affects females. It presents with wide-spread nipples, low hairline, lymphoedema, short 4th metacarpals, high-arched palate, cardiac problems, and horseshoe kidneys.

Food poisoning is defined as an illness caused by the consumption of food or water contaminated with bacteria and/or their toxins, or with parasites, viruses, or chemicals. The most common pathogens are Norovirus, Escherichia coli, Salmonella, Clostridium perfringens, Campylobacter, and Staphylococcus aureus.The following are some of the salient features of food poisoning:Acute diarrhoea in food poisoning usually lasts less than 2 weeks. Diarrhoea lasting 2-4 weeks is classified as persistent. Chronic diarrhoea is defined by duration of more than 4 weeks.The presence of fever suggests an invasive disease. However, sometimes fever and diarrhoea may result from infection outside the GI tract, as in malaria.A stool with blood or mucus indicates invasion of the intestinal or colonic mucosa.Reactive arthritis can be seen with Salmonella, Shigella, Campylobacter, and Yersinia infections.A profuse rice-water stool suggests cholera or a similar process.Abdominal pain is most severe in inflammatory processes. Painful abdominal cramps suggest underlying electrolyte loss, as in severe cholera.A history of bloating should raise the suspicion of giardiasis.Yersinia enterocolitis may mimic the symptoms of appendicitis.Proctitis syndrome, seen with shigellosis, is characterized by frequent painful bowel movements containing blood, pus, and mucus. Tenesmus and rectal discomfort are prominent features.Consumption of undercooked meat/poultry is suspicious for Salmonella, Campylobacter, Shiga toxin E coli, and C perfringens.Consumption of raw seafood is suspicious for Norwalk-like virus, Vibrioorganism, or hepatitis A.Consumption of homemade canned foods is associated with C botulinum.Consumption of unpasteurized soft cheeses is associated with Listeria, Salmonella, Campylobacter, Shiga toxin E coli, and Yersinia.Consumption of deli meats notoriously is responsible for listeriosis.Consumption of unpasteurized milk or juice is suspicious for Campylobacter, Salmonella, Shiga toxin E coli, and Yersinia.Salmonella has been associated with consumption of raw eggs.

Prevalence:

This is the proportion of individuals in a population who have a specific condition, disease, or attribute at a given point in time or over a specific period.

Incidence:

This is the number of new cases of a specific condition, disease, or attribute that develop in a population during a specified period of time.

Specificity:

This refers to the ability of a test to correctly identify those without the condition (true negative rate).

Sensitivity:

This refers to the ability of a test to correctly identify those with the condition (true positive rate).

Probability:

This is a measure of the likelihood that an event will occur. In the context of diseases, it can refer to the likelihood of developing a condition.

Absence seizures are induced by over breathing or hyperventilation, while the other features suggest partial seizures.

The IM dose of adrenaline for anaphylaxis in:< 6 months: 150 micrograms (0.15ml 1 in 1,000)6 months - 6 years: 150 micrograms (0.15ml 1 in 1,000)6 - 12 years: 300 micrograms (0.3ml 1 in 1,000)Adult and child > 12 years: 500 micrograms (0.5ml 1 in 1,000)Anaphylaxis:Anaphylaxis is an acute, rapidly progressing, potentially life-threatening IgE mediated Type I hypersensitivity reaction.It involves the release of mediators from mast cells, basophils and inflammatory cells. It is characterised by oedematous swelling of the airway mucosa giving rise to dyspnoea and respiratory distress. The most common cause of anaphylaxis in children is a food allergy.Risk factors for death in patients with anaphylaxis include asthma, age 11+, peanut allergy, and delay in adrenaline administration.Management of anaphylaxis includes:- ABCD- Remove the allergen- IM adrenaline or Nebulised adrenaline- IV Hydrocortisone – pro re nata IV fluid support. – Followed by observation.

Wolff-Parkinson-White (WPW) syndrome is a pre-excitation syndrome characterised by re-entry tachycardia that most commonly presents as a recurrent supraventricular tachycardia. ECG will show a short PR interval and a prolonged QRS complex.

An important predictor of the foetal well-being is the evaluation of amniotic fluid volumes, commonly done using ultrasonography. Amniotic fluid index (AFI) is calculated by measuring the largest vertical diameter of the fluid pocket in all four quadrants of the uterine cavity and then added together. Oligohydramnios or decreased amniotic fluid volume can be defined as an AFI less than 5cm and occurs in about 4-5% of the pregnancies. It is associated with a number of foetal abnormalities and complications. Foetal abnormalities that lead to oligohydramnios include premature rupture of membranes, intrauterine growth retardation, and congenital foetal abnormalities among others. A single umbilical artery is an anatomical defect of the umbilical cord, which leads to IUGR, uteroplacental insufficiency and may be associated with multiple congenital abnormalities as well, which all ultimately lead to the development of oligohydramnios. It also leads to multiple complications, out of which the incidence of chorioamnionitis is very high. Other complications include fetal growth retardation, limb contractures, GI atresia, and even fetal death.

Time and EventWeek 1: ImplantationWeek 2: Formation of bilaminar diskWeek 3: Formation of primitive streakFormation of notochordGastrulationWeek 4: Limb buds begin to formNeural tube closesHeart begins to beatWeek 10: Genitals are differentiated

Eczema herpeticum (also called Kaposi varicelliform eruption) is a disseminated viral illness usually associated with lymphadenopathy.It is most often caused by Herpes Simplex type 1 or type 2. Occasionally, other viruses such as coxsackievirus A16 may cause eczema herpeticum. Affected children usually develop itchy blisters and fever after coming in contact with an affected individual who may or may not display cold sores.It is characterised by an itchy and sometimes painful cluster of blisters most commonly on the face initially. This spreads over one to several weeks resulting in further crops of blisters which can become confluent. Lymphadenopathy and fever are common in these patients.The severity varies from mild illness to life-threatening, especially in immunocompromised children or young infants. It is markedly more common in children with atopic dermatitis. It is one of the few dermatological emergencies, and oral antivirals are often indicated. Referral to an ophthalmologist may be needed if there is eyelid or eye involvement. Occasionally, superadded skin infections caused by staphylococci and streptococci can occur.

Three physical changes – breast budding, pubic hair growth, and axillary hair growth in the order mentioned precede menarche. These changes are due to oestrogen, a hormone essential for pubertal development.The various pubertal changes in males include:-Testicular growth: It is the first sign of puberty occurring at around 12 years of age (Range = 10 – 15 years).- Testicular volume: An increase in the volume of testicles to 4 ml indicates the onset of pubertyThe various pubertal changes in females include:- The first sign is breast development at around 11.5 years of age (range = 9-13 years)- Followed by the onset of height spurt reaching the maximum in puberty (at 12 years of age)- The final change that occurs is termed menarche at 13 (11-15) years of age.Some of the other pubertal changes include:- Gynecomastia may develop in boys- Asymmetrical breast growth may occur in girls- Diffuse enlargement of the thyroid gland

Urine culture and sensitivity is used to diagnose a urinary tract infection (UTI). A mid-stream clean catch urine sample is the most common type of sample collected. It is important to follow the clean catch process to have accurate results from an uncontaminated sample. Urine cultures can also check for infections of the bladder or kidney.

The most likely cause of microcephaly in an asymptomatic 3-year-old child is congenital rubella syndrome.Microcephaly is defined as head circumference > two standard deviations below the mean.The causes of microcephaly include:- Genetic disorders: Down syndrome, Edward syndrome, Patau syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome.- Infective: Meningitis, toxoplasmosis, CMV, rubella, varicella, HIVand Zika.- Acquired causes: Severe brain malformations, neurodegenerative diseases, hypoxic-ischemic injury, infarction, antenatal exposure to drugs, alcohol, and other toxins. Severe malnutrition and uncontrolled phenylketonuria in the mother are other causes of microcephaly in children.- Craniosynostosis- Neurometabolic disorders- Early non-accidental trauma- Fanconi anaemia- Other causes include: Familial and nonfamilial nonsyndromic microcephalyMost children with microcephaly have one or several associated symptoms:- Developmental delay- Seizures- Visual abnormalities- Short stature

Henoch–Schönlein purpura (HSP), also known as IgA vasculitis, is a disease of the skin, mucous membranes, and sometimes other organs that most commonly affects children. In the skin, the disease causes palpable purpura (small, raised areas of bleeding underneath the skin), often with joint pain and abdominal pain. It is an acute immunoglobulin A (IgA)–mediated disorder. The tetrad of purpura, arthritis, kidney inflammation, and abdominal pain is often observed.

Lorazepam is known to cause respiratory depression and finally apnoea as a side effect.

This is a case of an anaphylactic reaction that requires immediate intervention. IM adrenaline dose for 6-12 year old children is 300 micrograms IM.

IgA nephropathy’s characteristic presentation is haematuria following a non-specific upper respiratory infection as was evident in this case. IgA nephropathy also usually occurs in children and young males, like this patient.

NICE guidelines suggest that at the premonitory stage (pre-hospital) the patient should receive Diazepam 10−20 mg given rectally, or midazolam 10 mg given buccally. If seizures continue, the patient should receive lorazepam IV.

Koebner’s phenomenon describes skin lesions that occur on damaged skin, usually in a linear fashion at the site of injury. Conditions which exhibit true Koebnerisation include psoriasis, lichen planus, lichen sclerosis, vitiligo, Kaposi sarcoma and SLE. Conditions such as erythema nodosum or multiforme, or Lyme disease and Impetigo do not exhibit Koebner’s phenomenon.

The aetiology of macrocephaly is diverse.The most common cause is benign familial macrocephaly characterized by enlargement of the subarachnoid spaces and accounts for almost 50% of cases.Other causes are:- Enlargement of skull bones – Hyperostosis cranii – associated with disorders such as osteogenesis imperfecta, achondroplasia, and osteopetrosis- Secondary enlargement due to bone marrow expansion – as seen in thalassemia major- Increase in volume of cerebrospinal fluid- Hydrocephalus, Choroid plexus papilloma, Benign familial macrocephaly- Megalencephaly – Leukodystrophies – Canavan disease, Alexander disease, megalencephalic leukoencephalopathy with subcortical cysts- Lysosomal storage disorders – Tay-Sachs, mucopolysaccharidosis, gangliosidosis- Neurocutaneous disorders – Tuberous sclerosis, Sturge-weber syndrome, neurofibromatosis, Gorlin syndrome- Autism spectrum disorder- Other syndromes – Fragile X syndrome, Cowden syndrome, Sotos syndrome- Increased intracranial pressure (ICP)- CNS infections, Pseudotumor cerebriSubdural collections including hygromas- Mass lesions and an increase in the volume of bloodTumourIntraventricular haemorrhage, subdural hematoma, arteriovenous malformation

Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Most often, boys and men with Klinefelter syndrome have the usual X and Y chromosomes, plus one extra X chromosome, for a total of 47 chromosomes (47,XXY).Cri-du-chat (cat’s cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing.Pierre Robin syndrome is not caused by a single gene defect but is a sequence.Meningomyelocele does not follow usual patterns of inheritance.

Erythema nodosum is the most common type of inflammation of the subcutaneous fat tissue, referred to as panniculitis. Erythema nodosum appears as painful, erythematous round lumps, usually symmetrically on the anterior aspect of lower extremities. These lesions are self-limiting and tend to resolve within 2-8 weeks without undergoing necrosis. There are various causes of erythema nodosum, but the most important among children is the streptococcal throat infection. Other causes include autoimmune conditions like sarcoidosis, inflammatory bowel disease, mycobacterial infection (TB), and drugs like penicillin and sulphonamides. Coeliac disease is not linked with the formation of erythema nodosum.

Hirschsprung’s disease is characterized by congenital absence of the autonomic plexus (Meissner’s and Auerbach’s plexus) in the intestinal wall. Usually limited to the distal colon, it can occasionally involve the entire colon or even the small bowel. There is abnormal or absent peristalsis in the affected segment, resulting in continuous spasm of smooth muscle and partial/complete obstruction. This causes accumulation of intestinal contents and dilatation of proximal segment. Skip lesions are highly uncommon. This disease is seen early in life with 15% patients presenting in first month, 60% by 1 year of age and 85% by the age of 4 years. Symptoms include severe and complete constipation, abdominal distension and vomiting. Patients with involvement of ultra-short segments might have mild constipation with intervening diarrhoea. In older children, symptoms include failure to thrive, anorexia, and lack of an urge to defecate. On examination, an empty rectum is revealed with stool palpable high up in the colon. If not diagnosed in time, it can lead to Hirschsprung’s enterocolitis (toxic megacolon), which can be fulminant and lead to death. Diagnosis involves a barium enema or a rectal suction biopsy. Barium enema shows a transition in diameter between the dilated, normal colon proximal to the narrowed, affected distal segment. It is to be noted that barium enema should be done without prior preparation, which can dilate the abnormal segment, leading to a false-negative result. A 24-hour post-evacuation film can be obtained in the neonatal period – if the colon is still filled with barium, there is a high likelihood of Hirschsprung’s disease. Full-thickness rectal biopsy is diagnostic by showing the absence of ganglion cells. Acetylcholinesterase staining can be done to highlight the enlarged nerve trunks. Abnormal innervation can also be demonstrated by rectal manometry.