Insufficient surfactant production in premature infants leads to respiratory distress syndrome or surfactant deficient lung disease (SDLD), characterized by structurally immature lungs. There are many risk factors of this disease, some of them include male gender, caesarean section, infants of diabetic mothers, being the second born of the premature twins, perinatal asphyxia, sepsis, and hypothermia. Maternal hypertension is not a recognized risk factor for respiratory distress syndrome| instead, pregnancy-induced hypertension and chronic maternal hypertension are the protective factors against this disease.

A not immunized patient with a clean wound requires an immediate vaccination against diphtheria, tetanus and polio, according to the Green Book of Immunisation against infectious disease. (The Green Book has the latest information on vaccines and vaccination procedures, for vaccine preventable infectious diseases in the UK.)

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

A supracondylar humerus fracture is a fracture of the distal humerus just above the elbow joint. The fracture is usually transverse or oblique and above the medial and lateral condyles and epicondyles. This fracture pattern is relatively rare in adults, but is the most common type of elbow fracture in children. They are historically associated with morbidity due to malunion, neurovascular complications, and compartment syndrome. Important arteries and nerves ( median nerve, radial nerve, brachial artery, and ulnar nerve) are located at the supracondylar area and can give rise to complications if these structures are injured. Most vulnerable structure to get damaged is Median Nerve. Damage/occlusion of the brachial artery is the cause of an absent radial pulse.

One of the most common congenital viral infections is cytomegalovirus infection. The infection is even commoner than the other widely known diseases like down’s syndrome and spina bifida. It is caused by herpesvirus type 5 and is diagnosed using PCR of saliva. The clinical features include failure to thrive, intellectual disability, epilepsy, and microcephaly. The most common clinical complication is sensorineural deafness. The drug of choice for the treatment of neonatal CMV infection is ganciclovir, an anti-viral drug that has shown to prevent deafness. Cytomegalic inclusion disease is diagnosed at birth with marked neurological disability, resulting from microcephaly, intracerebral calcifications, and cerebral atrophy.

Point mutations are the type of mutations in which only a single nucleotide of the DNA is either deleted, substituted or a new single nucleotide is inserted into the DNA, causing alterations in the original normal DNA sequencing. The examples of point mutations include hemochromatosis, sickle cell disease, and Tay-Sach’s disease. Huntington’s disease is a trinucleotide repeat disorder. Down’s syndrome is characterized by an extra copy of chromosome 21, while Klinefelter syndrome is marked by an extra X chromosome. Fragile X syndrome is also a trinucleotide repeat disorder.

The thyroglossal duct cyst is the most common congenital anomaly of the central portion of the neck. The thyroglossal duct cyst is intimately related to the central portion of the hyoid bone and usually elevates along with the larynx during swallowing. Thyroglossal cysts can be defined as an irregular neck mass or a lump which develops from cells and tissues left over after the formation of the thyroid gland during the developmental stages.

Low oxygen delivery in hypotension, hypoxia, oedema, intracranial hypertension or changes in cerebral blood flow should all be prevented to avoid secondary brain injury. There is no evidence to suggest that hypothermia prevents secondary brain injuries.

The umbilical cord that connects the fetus to the placenta is about 50cm long. This tissue consists of the body stalk and vitelline duct. The former containing the allantoic diverticulum and the umbilical vessels. The latter contains the connection linking the digestive tube and the yolk sac. This cord is wrapped by stratum of ectoderm and gelatinous tissue or jelly of Wharton. The right umbilical vein plus the vitelline vessels and ducts disappear and this at birth the cord has three vessels which are the umbilical vein and two umbilical arteries.

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

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.

Angio-oedema, is the rapid swelling of the skin, mucosa and submucosal tissues. The underlying mechanism typically involves histamine or bradykinin. The version related to histamine is to due an allergic reaction to agents such as insect bites, food, or medications. The version related to bradykinin may occur due to an inherited C1 esterase inhibitor deficiency, medications e.g. angiotensin converting enzyme inhibitors, or a lymphoproliferative disorder.

The sign being elicited in this patient is Nikolsky’s sign. Based on the findings, the patient is suffering from toxic epidermal necrolysis.Nikolskys sign: Rubbing the skin causes exfoliation of the outer layer and usually blistering within a few minutes. Other options:- Cullen’s sign: Periumbilical bruising due to intra-abdominal haemorrhage. If the discolouration is seen in the flanks, it is called Cullen’s sign. Underlying pathology includes ruptured ectopic pregnancy and haemorrhagic pancreatitis. – Forscheimer’s sign: It is a fleeting exanthem that is seen as small, red spots (petechiae) on the soft palate. Associated with rubella and glandular fever. Gorlin’s sign: It is the ability to touch the tip of the nose with the tongue. Increased incidence in children with connective tissue disorders, e.g. Ehler Danlos syndrome. – Auspitzs sign: These are small bleeding points left behind when psoriatic scales are lifted off. It is not a very sensitive or specific sign. Other cutaneous signs include:- Hair collar sign: It is a collar of hypertrichosis around an area of cranial dysraphism.- Hertoghe’s sign (Queen Anne’s sign): It is the loss of lateral one-third of eye-brows. It is associated with numerous conditions, including lupus, HIV, and hypothyroidism. – Dariers sign: It is the swelling, itching and erythema that occurs after stroking skin lesions of a patient with systemic mastocytosis or urticarial pigmentosa. – Dermatographism: Rubbing the skin causes a raised, urticarial lesion. – Koebners phenomenon: It is the appearance of new skin lesions in areas of trauma.- Breakfast, lunch, and dinner sign: Linear pathway of a group of three to five papules caused by the common bed bug, Cimex lectularius. – Buttonhole sign: In type 1 neurofibromatosis, neurofibromas can be invaginated with the finger back into the subcutis. The nodule will reappear after the release of pressure. The sign is also positive for dermatofibromas. – Crowe’s sign: Axillary freckling seen in type I neurofibromatosis.

Osteoid osteoma is a bone forming tumour which affects individuals in the second decade of life. The patient presents with a history of pain in the lower limbs which is mostly at night and responds to NSAIDS. If the pain doesn’t respond to NSAIDS, then other differentials should be considered.

Cyanotic congenital heart disease (CCHD) is a common cause of neonatal morbidity and mortality. They can be classified as CCHD due to:- Right-to-left shunt, associated with the decreased pulmonary flow, e.g., tetralogy of Fallot (TOF), pulmonary atresia, right-sided hypoplastic heart,- Right-to-left shunt, associated with the decreased aortic flow, e.g., left-sided hypoplastic heart, interrupted arch, severe coarctation| – Bidirectional shunt, e.g., TGA, DORV, TA, etc. Eisenmenger syndrome is not a neonatal CCHD| rather it develops later in young adulthood secondary to various CHD.

The most probable diagnosis for this patient is Maple syrup urine disease (MSUD).Note:- Healthy new-borns have blood sugars between 3.3 and 5 mmol/L- Neonatal hypoglycaemia is glucose < 2.2 mmol/L if measured in the first 3 days of life.- Neonatal hypoglycaemia is glucose < 2.5 mmol/L after the first 3 days of life.Causes of persistent hypoglycaemia include:- Preterm- IUGR- SGA- Hyperinsulinism due to maternal diabetes- Beckwith-Wiedemann syndrome- Hypoxia at birth- Sepsis- Cardiopulmonary disease- Inborn errors of metabolism- Hepatic enzyme deficiencies- Glycogen storage disease

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.

Persistent pulmonary hypertension of the new-born is secondary to the failure of normal circulatory transition at birth, leading to an abnormally high pulmonary vascular resistance. This elevated resistance causes right-to-left shunting of blood and hypoxemia. It can be caused by parenchymal lung diseases (meconium aspiration syndrome, pneumonia or ARDS), lung hypoplasia (like occurring in oligohydramnios or diaphragmatic hernia), or it can be idiopathic. Other possible causes include maternal indomethacin use, group B streptococcal septicaemia, and high-pressure ventilation. Duct dependent congenital heart disease does not lead to persistent pulmonary hypertension.

Non Epileptic attack disorder, also known as psychogenic non epileptic seizures, is a condition characterised by episodes of abnormal movement and behaviours that resemble seizures , but are not caused by electrical activity changes in the brain. It is believed that the disorder is caused by the brain’s response to overwhelming or stressful situations. In Jamila’s case, triggering conditions for her episodes may have been the absence of her mother, and the stress of her upcoming examinations. A diagnosis of generalised epilepsy is unlikely because this would require abnormal movement in all 4 limbs during an episode and a longer period of semi consciousness after. Cataplexy can also be ruled out as it does not involve a loss of consciousness which we see in Jamila’s case. Vasovagal syncope does not correspond with the history as there was no evidence of simultaneous collapse and responsiveness coupled with colour change and near spontaneous recovery when supine. A complex partial seizure may be possible in Jamila’s case, however the history of long duration, her eyes being tightly shut and the differences in presentation between the two episodes makes it less likely.

Vesicoureteric reflex (VUR) is described as the retrograde flow of urine from the bladder into the ureter due to an incompetent uterovesical junction. In primary VUR the lower urinary tract functions normally, while secondary VUR is associated with a poorly functioning lower urinary tract. The incidence of VUR is highest in new-born girls. They can present with hydronephrosis, or urinary tract infections.

MMR vaccine is a live vaccine. It contains measles, mumps and rubella. These vaccines should be avoided during chemotherapy and for 6 months after.

Coarctation of the aorta may be defined as a constricted aortic segment that comprises localized medial thickening, with some infolding of the medial and superimposed neointimal tissue.The presence of associated defects and aortic arch anomalies, the extent of patency of the ductus arteriosus, the rapidity of the process of closure of the ductus arteriosus, and the level of pulmonary vascular resistance determine the timing of clinical presentation and the severity of symptoms. Young patients may present in the first few weeks of life with poor feeding, tachypnoea, and lethargy and progress to overt CHF and shock. These patients may have appeared well before hospital discharge, and deterioration coincides with closure of the patent ductus arteriosus. Presentation may be abrupt and acute with ductal closure.Neonates may be found to have tachypnoea, tachycardia, and increased work of breathing and may even be moribund with shock. Keys to the diagnosis include blood pressure (BP) discrepancies between the upper and lower extremities and reduced or absent lower extremity pulses to palpation. However, when the infant is in severe heart failure, all pulses are diminished.The murmur associated with coarctation of the aorta may be nonspecific yet is usually a systolic murmur in the left infraclavicular area and under the left scapula.

Based on the findings presented, the sign elicited is Rovsing’s sign.Rovsing’s sign:It is a sign suggestive of appendicitis. A positive sign is determined when palpation in the left lower quadrant of a patient’s abdomen causes pain in the right lower quadrant.Other options:- Murphy’s sign is positive in gallbladder inflammation. With the upper border of the examiner’s hand in the right upper quadrant of the abdomen under the rib cage, the patient is asked to inhale. Inhalation causes the gallbladder to descend, which catches on the fingers, causing pain.- Cullen’s sign is suggestive of ectopic pregnancy or acute pancreatitis and describes the bruising around the umbilicus.- Tinel’s sign is positive in those with carpal tunnel syndrome. The examiner’s fingers tap the median nerve over the flexor retinaculum, which causes paraesthesia over the distribution of the median nerve.- Battles’ sign describes bruising behind the ear, suggesting a basal skull fracture of the posterior cranial fossa.

Scaphoid fractures are regarded as fractures that are difficult to heal, so a classification system is needed taking different factors into account that should lead towards proper guidance to the healing time and management of these fractures. Popular classification criteria are Herbert, Russe, and Mayo classification systems. Herbert’s classification system is based on the fracture’s stability and proposes that all complete bicortical fractures (except for tubercle fractures) are unstable. Salter-Harris classification is used for categorizing epiphyseal fractures, while Delbert classification system is reserved for fractures of the proximal femur in children. Fractures of the ankles are classified using Ottawa rules, and Garland classification is used for supracondylar fractures in children.

Anorectal malformations (ARMS) are also known as imperforate anus (IA). This is an umbrella term for a group of birth defects which affect the anorectal area.During a normal bowel movement, solid waste passes from the colon (large intestine) to the rectum (the final section the colon) and through the anus. When a child has an ARM, the rectum and the anus do not develop properly.Some types of ARM can cause constipation, faecal and / or urinary incontinence, infections and other problems. Some of these problems are very minor and easy to treat, with great long-term prognosis. Others are complex and affect multiple areas of life, such as sexual function and urinary and bowel control.

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.

Due to breakdown of the red blood cell membrane in haemophilic patients, cholesterol crystals are formed by the lipids. On the other hand lipofuscin deposition does not occur in haemolysis or haemorrhage. Neutrophil accumulation suggests acute inflammation. Anthracotic pigment is an exogenous carbon pigment that deposits in the lung from dust. Russell bodies are intracellular accumulations of immunoglobins in plasma cells. Curschmann’s spirals and Charcot Leyden crystals are pathognomonic of asthma.

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.

The baby may have hydrocephalus and no surgery can be done until it is excluded.Cranial sonography is an important part of neonatal care in general, and high-risk and unstable premature infants, in particular. It allows rapid evaluation of infants in the intensive care units without the need for sedation and with virtually no risk. Expectedly, sonography represents an ideal imaging modality in neonates due to its portability, lower cost, speed, and lack of ionizing radiations. Although there are numerous indications for cranial sonography, it appears to be most useful for detection and follow-up of intracranial haemorrhage, hydrocephalus, and periventricular leukomalacia (PVL).

Coxsackie viruses are a group of RNA viruses with over 20 serotypes| depending on specific viral characteristics, these serotypes are further divided into groups A and B. Infection is associated with a wide range of symptoms, which are dependent on the exact serotype. Hand, foot, and mouth disease (HFMD) and herpangina are commonly caused by group A coxsackie viruses, while pleurodynia and myocarditis are caused by group B coxsackie viruses. Both groups may cause viral meningitis, conjunctivitis, or flu‑like symptoms. Diagnostic procedures and treatment should be tailored to the specific disease manifestation. Coxsackie A :HerpanginaHand, foot, and mouth diseaseCharacteristics: highly contagiousClinical presentationGeneral symptoms: fever, reduced general conditionSkin/mucosaMaculopapular and partially vesicular rash on the hands and feetOral ulcersDiagnosis: clinicalTreatment: symptomaticPrognosis: almost always self‑limiting