Answer: Rickets

Rickets is a disease of growing bone that is unique to children and adolescents. It is caused by a failure of osteoid to calcify in a growing person.
The signs and symptoms of rickets can include:

pain – the bones affected by rickets can be sore and painful, so the child may be reluctant to walk or may tire easily; the child’s walk may look different (waddling)
skeletal deformities – thickening of the ankles, wrists and knees, bowed legs, soft skull bones and, rarely, bending of the spine
dental problems – including weak tooth enamel, delay in teeth coming through and increased risk of cavities
poor growth and development – if the skeleton doesn’t grow and develop properly, the child will be shorter than average
fragile bones – in severe cases, the bones become weaker and more prone to fractures.

Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are affected varies. People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, eyes, bones and the covering of the spinal cord.

Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn’t strong enough to hold them.
A more severe form of the disorder, called Ehlers-Danlos syndrome, vascular type, can cause the walls of your blood vessels, intestines or uterus to rupture.

Osteoporosis is a disease in which bone weakening increases the risk of a broken bone. It is the most common reason for a broken bone among the elderly. Bones that commonly break include the vertebrae in the spine, the bones of the forearm, and the hip. Until a broken bone occurs there are typically no symptoms. Bones may weaken to such a degree that a break may occur with minor stress or spontaneously. Chronic pain and a decreased ability to carry out normal activities may occur following a broken bone.

Osteoporosis may be due to lower-than-normal maximum bone mass and greater-than-normal bone loss. Bone loss increases after menopause due to lower levels of oestrogen. Osteoporosis may also occur due to a number of diseases or treatments, including alcoholism, anorexia, hyperthyroidism, kidney disease, and surgical removal of the ovaries.

Answer: Do not operate and review the patient several weeks later

Air weapon injuries in children should be managed in the same way as any low velocity gun shot injury. Subcutaneous pellets are best removed. Urgent specialist referral is indicated for cranial, ocular, chest, abdominal, or vascular injuries as they may require emergency surgery. Cardiac injuries may be rapidly fatal. Penetrating abdominal injuries involving hollow viscera or major blood vessels need prompt exploration and repair. Intracranial air weapon pellets should be removed if possible. A pellet in lung parenchyma or muscle may be safely left in situ but there is a risk of infection. A pellet that has penetrated a joint or is associated with a fracture requires skilled orthopaedic management. A pellet lodged near a major blood vessel or nerve should ideally be removed. The possibility of intravascular embolism must be considered if the pellet is absent from a suspected entry site and there is no exit wound; numerous examples of arterial and venous embolism of an air weapon pellet in children have been described.

In this case, the child seems well so there is no need to operate. He should be reviewed several weeks later.

Answer: Surgery over the next few days

Inguinal hernia is a type of ventral hernia that occurs when an intra-abdominal structure, such as bowel or omentum, protrudes through a defect in the abdominal wall. Inguinal hernias do not spontaneously heal and must be surgically repaired because of the ever-present risk of incarceration. Generally, a surgical consultation should be made at the time of diagnosis, and repair (on an elective basis) should be performed very soon after the diagnosis is confirmed.

The infant or child with an inguinal hernia generally presents with an obvious bulge at the internal or external ring or within the scrotum. The parents typically provide the history of a visible swelling or bulge, commonly intermittent, in the inguinoscrotal region in boys and inguinolabial region in girls.
The swelling may or may not be associated with any pain or discomfort.

Answer: Congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) occurs when the diaphragm muscle — the muscle that separates the chest from the abdomen — fails to close during prenatal development, and the contents from the abdomen (stomach, intestines and/or liver) migrate into the chest through this hole.

Examination in infants with congenital diaphragmatic hernias include the following findings:

Scaphoid abdomen

Barrel-shaped chest

Respiratory distress (retractions, cyanosis, grunting respirations)

In left-sided posterolateral hernia: Poor air entry on the left, with a shift of cardiac sounds over the right chest; in patients with severe defects, signs of pneumothorax (poor air entry, poor perfusion) may also be found

Associated anomalies: Dysmorphisms such as craniofacial abnormalities, extremity abnormalities, or spinal dysraphism may suggest syndromic congenital diaphragmatic hernia

Ileal atresia is a congenital abnormality where there is significant stenosis or complete absence of a portion of the ileum. There is an increased incidence in those with chromosomal abnormalities. Ileal atresia results from a vascular accident in utero that leads to decreased intestinal perfusion and subsequent ischemia a segment of bowel. This leads to narrowing, or in the most severe cases, complete obliteration of the intestinal lumen. In the postnatal period, an abdominal radiograph will show air in the dilated loops of proximal bowel. An ileal atresia is often discovered prenatally at a routine prenatal ultrasound scan or following the development of polyhydramnios. On ultrasound, there is frequently a proximal dilated intestinal segment.

Meconium Ileus (MI) is a condition where the content of the baby’s bowel (meconium) is extremely sticky and causes the bowel to be blocked at birth. In most cases the bowel itself is complete and intact but it is just the inside that is blocked.

In some cases there has been a twist of the bowel before birth, which has caused the bowel to be blind ending (an atresia). Most babies with meconium ileus (90%) have Cystic Fibrosis (CF) and it is this that has caused the sticky meconium. Meconium ileus is a rare condition affecting only 1 in 25,000 babies. There is normally a delay in your baby passing meconium (black sticky stool normally passed within 24 hours of delivery) and your baby may also be reluctant to feed and may vomit a green fluid called bile which would normally pass through the bowel.

Your baby may be uncomfortable because of constipation and trapped air in the bowel and the abdomen (tummy) will become distended. Some babies present at delivery with a distended abdomen and may be unwell due to infection around the bowel.

Pyloric stenosis is a problem that affects babies between birth and 6 months of age and causes forceful vomiting that can lead to dehydration. It is the second most common problem requiring surgery in new-borns. The lower portion of the stomach that connects to the small intestine is known as the pylorus. In pyloric stenosis, the muscles in this part of the stomach enlarge, narrowing the opening of the pylorus and eventually preventing food from moving from the stomach to the intestine.

Answer: Obtain intravenous access, administer fluids and antibiotics.

Intussusception is a condition in which one segment of intestine telescopes inside of another, causing an intestinal obstruction (blockage). Although intussusception can occur anywhere in the gastrointestinal tract, it usually occurs at the junction of the small and large intestines. The obstruction can cause swelling and inflammation that can lead to intestinal injury. The patient with intussusception is usually an infant, often one who has had an upper respiratory infection, who presents with the following symptoms:

Vomiting: Initially, vomiting is nonbilious and reflexive, but when the intestinal obstruction occurs, vomiting becomes bilious

Abdominal pain: Pain in intussusception is colicky, severe, and intermittent

Passage of blood and mucus: Parents report the passage of stools, by affected children, that look like currant jelly; this is a mixture of mucus, sloughed mucosa, and shed blood; diarrhoea can also be an early sign of intussusception

Lethargy: This can be the sole presenting symptom of intussusception, which makes the condition’s diagnosis challenging

Palpable abdominal mass

Diagnosis:
Ultrasonography: Hallmarks of ultrasonography include the target and pseudo kidney signs.

For all children, start intravenous fluid resuscitation and nasogastric decompression as soon as possible.

Answer: Perthes disease

Perthes’ disease is a condition affecting the hip joint in children. It is rare (1 in 9,000 children are affected) and we do not clearly understand why it occurs.

Part or all of the femoral head (top of the thigh bone: the ball part of the ball-and-socket hip joint) loses its blood supply and may become misshapen. This may lead to arthritis of the hip in later years.

The earliest sign of Legg-Calvé-Perthes disease (LCPD) is an intermittent limp (abductor lurch), especially after exertion, with mild or intermittent pain in the anterior part of the thigh. LCPD is the most common cause of a limp in the 4- to 10-year-old age group, and the classic presentation has been described as a painless limp.
The patient may present with limited range of motion of the affected extremity. The most common symptom is persistent pain.

Hip pain may develop and is a result of necrosis of the involved bone. This pain may be referred to the medial aspect of the ipsilateral knee or to the lateral thigh. The quadriceps muscles and adjacent thigh soft tissues may atrophy, and the hip may develop adduction flexion contracture. The patient may have an antalgic gait with limited hip motion.
Early radiographic changes may reveal only a nonspecific effusion of the joint associated with slight widening of the joint space, metaphyseal demineralization (decreased bone density around the joint), and periarticular swelling (bulging capsule). This is the acute phase, and it may last 1-2 weeks. Decreasing bone density in and around the joint is noted after a few weeks. Eventually, the disease may progress to collapse of the femoral head, increase in the width of the neck, and demineralization of the femoral head. The final shape of this area depends on the extent of necrosis and the degree of collapse.

Answer: Fasciotomy

Fasciotomy is a surgical procedure where the fascia is cut to relieve tension or pressure commonly to treat the resulting loss of circulation to an area of tissue or muscle. Fasciotomy is a limb-saving procedure when used to treat acute compartment syndrome. A delay in performing the procedure can lead to neurovascular complications or lead to the need for amputation of a limb. Complications can also involve the formation of scar tissue after the operation. A thickening of the surgical scars can result in the loss of mobility of the joint involved. This can be addressed through occupational or physical therapy.

Answer: Intestinal malrotation

During normal abdominal development, the 3 divisions of the GI tract (i.e., foregut, midgut, hindgut) herniate out from the abdominal cavity, where they then undergo a 270º counter clockwise rotation around the superior mesenteric vessels. Following this rotation, the bowels return to the abdominal cavity, with fixation of the duodenojejunal loop to the left of the midline and the cecum in the right lower quadrant.

Intestinal malrotation refers to any variation in this rotation and fixation of the GI tract during development. Interruption of typical intestinal rotation and fixation during foetal development can occur at a wide range of locations; this leads to various acute and chronic presentations of disease. The most common type found in paediatric patients is incomplete rotation predisposing to midgut volvulus, requiring emergent operative intervention.

Acute midgut volvulus

Usually occurs during the first year of life

Sudden onset of bilious emesis

Diffuse abdominal pain out of proportion to physical examination

Acute duodenal obstruction

This anomaly is usually recognized in infants and is due to compression or kinking of the duodenum by peritoneal bands (Ladd bands).

Patients present with forceful vomiting, which may or may not be bile-stained, depending on the location of the obstruction with respect to the entrance of the common bile duct (ampulla of Vater).

Malrotation may occur as an isolated anomaly or in association with other congenital anomalies; 30-62% of children with malrotation have an associated congenital anomaly. All children with diaphragmatic hernia, gastroschisis, and omphalocele have intestinal malrotation by definition. Additionally, malrotation is seen in approximately 17% of patients with duodenal atresia and 33% of patients with jejunoileal atresia.

Answer: Acute Epstein Barr virus infection

The Epstein–Barr virus is one of eight known human herpesvirus types in the herpes family, and is one of the most common viruses in humans. Infection with Epstein-Barr virus (EBV) is common and usually occurs in childhood or early adulthood.
EBV is the cause of infectious mononucleosis, an illness associated with symptoms and signs like:
fever,
fatigue,
swollen tonsils,
headache, and
sweats,
sore throat,
swollen lymph nodes in the neck, and
sometimes an enlarged spleen.
Although EBV can cause mononucleosis, not everyone infected with the virus will get mononucleosis. White blood cells called B cells are the primary targets of EBV infection.

Answer: Kiesselbach’s plexus

Epistaxis is defined as acute haemorrhage from the nostril, nasal cavity, or nasopharynx. The source of 90% of anterior nosebleeds within the Kiesselbach’s plexus (also known as Little’s area) on the anterior nasal septum.

Kiesselbach’s plexus (Kiesselbach’s area or Little’s area) is a vascular region of the anteroinferior nasal septum that comprises four arterial anastomoses:
1)anterior ethmoidal artery – a branch of the ophthalmic artery
2)sphenopalatine artery