Infantile spasm belongs to the spectrum of seizure disorders. Infantile spasm manifests itself with loss of consciousness and jerky movements. The peak age of onset is between 4 and 6 months. Approximately 90% of infantile spasms begin before 12 months of age. It is rare for infantile spasms to begin during the first 2 weeks of life or after 18 months.

The submandibular glands provide the bulk of salivary secretions contributing close to 70%. The sublingual glands provide 5% and the remainder from the parotid.

Topical treatments are useful in the treatment of mild Psoriasis, or as adjuvant therapy in ultraviolet and systematic treatments. These treatments include moisturisers, dithranol, coal tar, salicylic acid, topical immunomodulators such as calcineurin, topical retinoids, Vitamin D analogues and topical steroids. Topical steroids are known to have a number of side effects such as striae, atrophy of the skin, telangiectasia, acneiform rash, and easy bruising. Localised pustular psoriasis is also associated with topical steroids in higher doses. Use of more than 500 g of hydrocortisone or 50 g clobetasol propionate have been shown to suppress adrenal function. Calcitriol, a vitamin D analogue, is only available as an ointment and does not stain clothes and skin the way dithranol and coal tar are known to.

Anorexia nervosa is an eating disorder which is characterized by distorted self-image leading to abnormally decreased calorie intake. This disorder affects multiple bodily systems, including the skin, GI, and endocrine system. Due to extreme weight loss, patients with anorexia nervosa develop cold intolerance along with bluish discoloration of their fingers, nose, and ears, which is known as acrocyanosis. This phenomenon may be due to the shunting of the blood from the peripheries to the central body systems as a reaction to hypothermia. Other notable changes in the integumentary system include extreme dryness (xerosis), lanugo hairs, decubitus ulcers, and easy bruisibility.

Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paraesthesia), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia.

Excessive weight loss is generally indicative of suboptimal feeding, and infants with excessive weight loss are potentially dehydrated or at risk of dehydration.Jaundice associated with suboptimal breastfeeding-this is classically associated with weight loss >10% and a vicious cycle of sleepiness that in turn leads to further poor feeding. In the absence of clinical signs of dehydration, no evidence suggests that overhydration is helpful. If the infant is dehydrated, hydration should be given as clinically indicated. However, if the infant can tolerate oral feeding, oral hydration with a breast milk substitute is likely to be superior to intravenous hydration because it reduces enterohepatic circulation of bilirubin and helps wash bilirubin out of the bowel.

A transverse lie is a common malpresentation. It occurs when the fetal longitudinal axis is perpendicular to the long axis of the uterus. The location of the spine determines if the foetus is back up (the curvature of the spine is in the upper part of the uterus) or back down (the curvature of the spine is in the lower part of the uterus).Good antenatal care, ECV, and elective caesarean section are the mainstay of the management.Spontaneous delivery of a term foetus is impossible with a persistent transverse lie and, in general, the onset of labour is an indication for the lower segment caesarean section (LSCS) in a case of a transverse lie.

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic academia. The condition gets its name from the distinctive sweet odour of affected infants’ urine, particularly prior to diagnosis, and during times of acute illness. MSUD, also known as branched-chain ketoaciduria, is an aminoacidopathy due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine.

In the first trimester of pregnancy, amniotic fluid is produced from maternal plasma where there is a rapid bi-directional diffusion across the foetal skin. At 10 weeks the volume is about 25ml. By 16th weeks of gestation the foetal kidneys make urine that contributes to the increasing volume of amniotic fluid, along with nasal secretions. At 20 weeks, the level is 400ml and increases to 800ml at 28weeks, after which it reduces to 600ml at term.

A ventricular septal defect (VSD) is a common form of congenital heart defects and is characterised by the presence of a hole in the wall that separates the right from the left ventricle. Medium or large defects can cause many complications. One of these complication is Eisenmenger syndrome, characterised by reversal of the shunt (from left-to-right shunt into a right-to-left) ,cyanosis and pulmonary hypertension.

Atrial septal defects may also occur in association with a variety of other congenital heart defects, or in new-borns that are relatively small or premature. The following conditions are associated with an atrial septal defect:Ebstein’s anomalyFoetal alcohol syndromeHolt-Oram syndromeDown syndromeEllis van Creveld syndromeLutembacher’s syndrome Ostium primum defects occur frequently in individuals with Down syndrome or Ellis van-Creveld syndrome.Holt-Oram syndrome characterized by an autosomal dominant pattern of inheritance and deformities of the upper limbs (most often, absent or hypoplastic radii) has been attributed to a single gene defect in TBX5Fragile X syndrome is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females. The physical features in affected males are variable and may not be obvious until puberty. These symptoms can include a large head, long face, prominent forehead and chin, protruding ears, loose joints and large testes. Other symptoms can include flat feet, frequent ear infections, low muscle tone, a long narrow face, high arched palate, dental problems, crossed eyes (strabismus) and heart problems including mitral valve prolapse.

PDA is particularly common in premature babies and it is managed by indomethacin administration. However, if PDA is not the only defect, prostaglandin E1 can be administered in order to keep the ductus open until the surgery takes place.

This patient is most likely suffering from hand, foot mouth disease which is caused by coxsackie virus A16. Its incubation period ranges from 5-7 days and only symptomatic treatment is required.

Sepsis is a medical emergency that describes the body’s systemic immunological response to an infectious process that can lead to end-stage organ dysfunction and death. The fever, alongside the clinical presentation, make sepsis the likely diagnosis. A temperature >38 degrees in an infant <3months of age warrants investigation.

The clinical presentation of the boy suggests the involvement of the right frontal lobe.Psychiatric or behavioural disturbances secondary to frontal lobe lesions exhibit lateralisation. The lesions of the left hemisphere are associated with depression, especially if the lesion involves the dorsolateral portion of the prefrontal cortex. Whereas, lesions of the right hemisphere are associated with impulsivity, disinhibition, and aggression, as it is the case with the child in question.Presenting symptoms of lobar dysfunctions:- Frontal lobe: Contralateral hemiplegia, impaired problem solving, disinhibition, and lack of initiative. Broca’s aphasia and agraphia suggest the involvement of the dominant hemisphere.- Temporal lobe: Wernicke’s aphasia (dominant hemisphere involvement), homonymous upper quadrantanopia and auditory agnosia (non-dominant hemisphere involvement).- Parietal lobe: Anosognosia, dressing apraxia, spatial neglect and constructional apraxia are observed when the non-dominant hemisphere is involved. Gerstmann’s syndrome is observed when the dominant hemisphere is involved.- Occipital lobe: Visual agnosia, visual illusions and contralateral homonymous hemianopia.

Clinical diagnosis of neurofibromatosis type 1 requires the presence of at least 2 of 7 criteria to confirm the presence of neurofibromatosis, type 1. Many of these signs do not appear until later childhood or adolescence, and thus confirming the diagnosis often is delayed despite a suspicion of NF1. The 7 clinical criteria used to diagnose NF1 are as follows:- Six or more cafe-au-lait spots or hyperpigmented macules greater than 5 mm in diameter in prepubertal children and greater than 15 mm postpubertal- Axillary or inguinal freckles (>2) – Two or more typical neurofibromas or one plexiform neurofibroma- Optic nerve glioma- Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination by an ophthalmologist- Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis- A first-degree relative (e.g., mother, father, sister, brother) with NF1

Tooth extraction or any surgical procedure may introduce bacteria into the blood stream. The most commonly involved organisms include Staphylococcus aureus and Streptococcus viridans. Once in the blood, these organisms have a very high tendency of attaching to the walls of the heart and causing inflammation known as endocarditis.

The trend in the management of splenic injury continues to favour nonoperative or conservative management. In Paediatrics, Blunt splenic injuries with hemodynamic stability and absence of other internal injuries requiring surgery should undergo an initial attempt of Non-operative Management (NOM) irrespective of injury grade.In hemodynamically stable children with isolated splenic injury, splenectomy should be avoided.NOM is contraindicated in the presence of peritonitis, bowel evisceration, impalement or other indications to laparotomy.The vast majority of paediatric patients do not require angiography/angioembolization (AG/AE) for CT blush or moderate to severe injuries.AG/AE may be considered in patients undergone to NOM, hemodynamically stable with sings of persistent haemorrhage not amenable of NOM, regardless with the presence of CT blush once excluded extra-splenic source of bleeding.

Logistic regression analysis is an easy to use regression that can serve to estimate how a binary or dichotomous dependent variable, for example whether or not a student passes or fails a medical exam, is related to the number of hours the student studies for the exam. This regression is able to yield an odds ratio, i.e. the probability of passing the exam based on each additional hour of study. As stated, the outcome does not need to be normally distributed but is usually binary. This type of analysis is not complex and does not need to be avoided as it is available most statistical packages.

The most probable cause for the child’s presenting symptoms and the findings in ultrasound would be the presence of an abnormal posterior urethral valve. A posterior urethral valve is a developmental anomaly that usually affects male infants (incidence 1 in 8000) leading to obstructive uropathy. Diagnostic features include bladder wall hypertrophy, hydronephrosis and bladder diverticula.Note:Posterior urethral valves are the most common cause of infra-vesical outflow obstruction in males. They can be diagnosed on antenatal ultrasonography. Due to the necessity of the fetal bladder to develop high emptying pressures in utero secondary to this anomaly, the child may develop renal parenchymal damage. This leads to renal impairment noted in 70% of boys at the time of presentation. Management:The immediate treatment would be to place a bladder catheter to relieve the acutely retained urine. The definitive treatment of choice would be an endoscopic valvotomy with a cystoscopic and renal follow up.

The Moro reflex is a normal primitive, infantile reflex. It can be seen as early as 25 weeks postconceptional age and usually is present by 30 weeks postconceptional age.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,ť eh,ť ohť) 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,ť bť) 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

Total parenteral nutrition (TPN) frequently causes derangement of liver function in children. Other options:- While line sepsis and thromboembolism are recognised complications of TPN, they do not occur frequently. – A child who is on TPN will require regular blood tests because of the potential for the development of electrolyte abnormalities. Need to observe their liver function, in order to provide TPN more accurately.

Maternal smoking is one of the most significant risk factors for pyloric stenosis.Remember the three Ps for Pyloric Stenosis:P -palpable massP -peristalsisP -projectile vomiting

Kaposi varicelliform eruption (KVE) is the name given to a distinct cutaneous eruption caused by herpes simplex virus (HSV) type 1, HSV-2, coxsackievirus A16, or vaccinia virus that infects a pre-existing dermatosis. Most commonly, it is caused by a disseminated HSV infection in patients with atopic dermatitis (AD) and, for this reason, is often referred to as eczema herpeticum (EH).Kaposi varicelliform eruption (KVE) is now known to occur in children of any age and in adults, however, most patients (56%) are aged 15-24 years.

Congenital hypothyroidism is associated with failure to thrive, macroglossia, prolonged jaundice of a new-born and constipation.

Based on the clinical scenario provided, the most probable diagnosis for this patient would be tuberous sclerosis which is an autosomal dominant condition.Among the options provided, only Neurofibromatosis Type 1 is inherited by an autosomal dominant pattern. Other options:- Beckwith-Wiedemann syndrome is an example of an imprinting disorder and results from abnormalities of inheritance or methylation of chromosome 11p15.- Cystic fibrosis is an autosomal recessive condition.- Duchenne Muscular Dystrophy is an example of an X-linked recessive condition.- Hypophosphataemic (Vitamin D resistant) rickets is an X-linked dominant condition.

HLA-DR (3 and 4) have been associated with an increased risk for idiopathic diabetes mellitus.Type 1 diabetes has a high heritability compared to type 2Identical twins have a 30-50% risk if their twin has type 1 diabetes

The hypoglossal nerve (CN XII) provides motor innervation to all of the intrinsic and extrinsic muscles of the tongue except for the palatoglossus muscle, which is innervated by the vagus nerve (CN X). It runs superficial to the hyoglossus muscle. Lesions of the hypoglossal nerve cause deviation of the tongue to the ipsilateral (i.e., damaged) side.Taste to the anterior two-thirds of the tongue is achieved through innervation from the chorda tympani nerve, a branch of the facial nerve (CN VII). General sensation to the anterior two-thirds of the tongue is by innervation from the lingual nerve, a branch of the mandibular branch of the trigeminal nerve (CN V3). The lingual nerve is located deep and medial to the hyoglossus muscle and is associated with the submandibular ganglion.On the other hand, taste to the posterior one-third of the tongue is accomplished through innervation from the glossopharyngeal nerve (CN IX), which also provides general sensation to the posterior one-third of the tongue.Taste perception also is performed by both the epiglottis and the epiglottic region of the tongue, which receives taste and general sensation from innervation by the internal laryngeal branch of the vagus nerve (CN X). Damage to the vagus nerve (CN X) causes contralateral deviation (i.e., away from the injured side) of the uvula.

The femoral nerve is the main nerve supply for the thigh muscles including the pectineus, iliacus, sartorius, which flex the hip; and the quadriceps femoris made up of the rectus femoris, vests laterals, vastus medialis and vastus intermedius, which extend the knee. The nerve is derived from the L2, L3 and L4 nerve roots, and supplies cutaneous branches to the anteromedial thigh and the medial side of the leg via the saphenous nerve.

The baby is not clearing CO2 normally despite normal oxygenation so we should increase the delta P. Higher delta P will increase tidal volume and hence CO2 removal.After initial resuscitation and stabilization, the following should be the ventilator settings used:Rate: 30-40/minutePeak inspiratory pressure (PIP) – determined by adequate chest wall movement.An infant weighing less than 1500 grams: 16-28 cm H2O.An infant weighing greater than 1500 grams: 20-30 cm H2O. Positive end expiratory pressure (PEEP): 4 cm of H2O OR 5-6 cm if FiO2 > 0.90.FiO2: 0.4 to 1.0, depending on the clinical situation.Inspiratory time: 0.3-0.5 sec.After 15 to 30 minutes, check arterial blood gases and pH.If the PaO2 or the O2 saturation is below accepted standards, the FiO2 can be raised to a maximum of 1.0. If the PaO2 or O2 saturation is still inadequate, the mean airway pressure can be raised by increasing either the PIP, PEEP, inspiratory time or the rate, leaving inspiratory time constant.If the PaCO2 is elevated, the rate or peak inspiratory pressure can be raised.