Hand-foot syndrome

Preschool children with sickle cell disease can present with 'hand-foot syndrome'. They have tender swelling of the hand and wrists or feet. Such episodes can be precipitated by stress or cold. The incidence of septic arthritis and Osteomyelitis, especially streptococcus and Salmonella spp., is increased in sickle cell anaemia.

Fragile X syndrome

Strictly speaking fragile X syndrome is an X-linked recessive rather than a chromosomal disorder. There are multiple (>200) CGG trinucleotide repeats on the X chromosome. Many female carriers of fragile X have mild learning difficulties. Affected boys will have moderate learning difficulties (average IQ is 50), macrocephaly, macro-orchidism, large ears, a long face, and a prominent mandible and forehead. Down's and fragile X syndromes are the most common genetic causes of severe learning difficulties in children.

Sepsis 6

1. High flow oxygen
2. Take blood cultures
3. Fluid bolus challenge (500ml)
4. Intravenous antibiotics
5. Check haemoglobin and lactate
6. Place and monitor a urinary catheter (urine dip)

OSCE

1. WHO AM I?
2. WHAT AM I SUPPOSED TO DO?
3. WHAT DO I KNOW FROM THE CURRICULUM?

Klinefelter's syndrome

Klinefelter's syndrome is the most common cause of male hypogonadism, occuring in 1-2 per 1000 male births. These patients have small, firm testes, are tall, and have behavioural problems, delayed speech and gynaecomastia. Testosterone therapy is sometimes used to improve the development of secondary sexual characteristics.

47 XXX (Triple X syndrome) is the presence of an extra X chromosome in females. Although some patients have mild learning disabilities, most do not have any unusual dysmorphic or medical problems, and are usually able to conceive. As such, triple X syndrome is rarely diagnosed.

The triploidies 69XXY, 69 XXX and 69 XYY result from fertilization of an egg by 2 sperm. They are estimated to occur in about 2% of conceptuses. Most affected babies are miscarried, although some live to be a few months of age.

Edward's syndrome

47 XX 18

Most children with Edwards' syndrome die early in infancy, with fewer than 10% surviving beyond 1 year of age. The clinical features of Edwards' syndrome are low-set ears, small chin, microcephaly, overlapping fingers, rocker-bottom feet, cardiac defects (especially ventricular septal defects), renal anomalies and learning disability.

Patau's syndrome, or 47 XX 13, is characterised by structural defects of the brain, small eyes, polydactyly and cardiac/renal malformations. Most babies with Patau's syndrome do not survive beyond 1 year of age.

Developmental dysplasia of the hip

Developmental dysplasia of the hip (DDH, or congenital dislocation of the hip) is a spectrum of disorders ranging from partial subluxation to frank dislocation of the hip. It is thought that high concentrations of the maternal hormone relaxin contributes to the laxity of the hip joint. DDH is found in 1 in 1000 births, and is six times more common in females. The left hip is more likely to be dislocated that the right. Risk factors for DDH include a positive family history, breech delivery, spinal/neuromuscular abnormalities (e.g. spina bifida and talipes equinovarus) and oligohydramnios.

Neonatal screening for DDH is by two methods: Barlow's test (the hip can easily be displaced posteriorly out of the acetabulum or adduction of the leg with posterior pressure) and Ortolani's manoeuvre (the femoral head can be reduced back into the acetabulum on abduction of the leg with anterior pressure). These tests are routinely done at birth and 6 weeks of age. These manoeuvres have a good positive predictive value (e.g. if the examination is positive, the patient has DDH) but has a very poor negative predictive value (e.g. many patients with a normal examination are later found to have DDH). DDH may be present with assymmetrical skinfolds, limited abduction, shortening of the affected limb and limp. If spotted early, DDH responds to conservative treatment. The hips can be placed in abduction (using Craig's splint) or the child can be put in a restraining device (Pavlik harness) for several months. Progress should be monitored by ultrasound or X-ray. If conservative measures fail, open reduction and femoral osteotomy may be required. Necrosis of the femoral head is a potential complication of DDH.