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PEARLS 1
 A female fetus is delivered stillborn at 19 weeks gestation. The macerated fetus shows marked generalized hydrops fetalis. There is a large posterior septated cystic hygroma of the neck. Autopsy reveals internal anomalies including aortic coarctation and a horseshoe kidney
45X
These are typical features of Turner's syndrome
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At 30 weeks gestation, a stillborn fetus is noted to have a
 small face
 with micrognathia,
 overlapping fingers,
 an omphalocele
 a horseshoe kidney,
 and rocker-bottom feet.
47 XY, +18
TRISOMY 18
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 A 15 year old mentally retarded male has a karyotype demonstrating findings of the fragile X syndrome
The testes with Klinefelter's syndrome are small.
The testes in males with fragile X syndrome are large.
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 A 20 year old phenotypic female is found to have a 46 XY karyotype
Cryptorchid testes
Testicular feminization is characterized by testes that are cryptorchid.
They are removed because of the risk for seminoma
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 An 18-month-old child has poor neurologic development and decreased hexosaminidase A in serum.
Tay-Sachs disease
There is early neurologic impairment and blindness.
Most affected children die by age 2.
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 Cultured fibroblasts from amniocentesis performed at 17 weeks gestation show decreased sphingomyelinase activity.
Affected children may show neurologic deterioration and hepatosplenomegaly
Niemann-Pick disease
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 A 6 cm mass is present over the sacrococcygeal region of a newborn who has a normal weight and size for term gestation. No anomalies are noted. Radiographically, the mass has areas of calcification.
Teratoma
. Teratomas, though composed of benign elements of all germ layers, may be large and impinge upon vital structures and be difficult to resect.
They tend to arise in the midline.
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 A left cerebellar hemispheric 3.5 cm cystic mass is seen by CT scan of the head in an 8-year-old girl.
Astrocytoma
. Brain tumors in children are not uncommon, and are usually medulloblastomas or astrocytomas, and most are located below the tentorium in the posterior fossa.
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 Aortic dissection of the dilated proximal aorta at a location 7 cm from the aortic valve occurs in a tall 31-year-old male with long fingers.
 He has also has loss of vision from a subluxation of the crystalline lens of the right eye.
 A mid systolic click is audible upon auscultation of the chest, and an echocardiogram reveals a floppy mitral valve.
 His brother and his cousin are also affected by these conditions.
FIBRILLIN
Marfan syndrome is an autosomal dominant condition that is due to quantitative and qualitative defects in fibrillin from mutations in the fibrillin gene.
Aortic dissection from cystic medial necrosis is the worst complication, and requires that a synthetic graft be placed.
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 A 28-year-old female with multiple 1 to 3 cm light brown skin macules over her trunk, arms, and legs also has multiple 0.2 to 0.7 cm firm skin nodules scatttered in the same distribution.
 She develops a malignant neoplasm in the soft tissue of the right wrist region.
.NF-1 protein
Cafe-au-lait spots are typical of neurofibromatosis.
These people are at risk for development of malignant neoplasms of neural origin, such
as malignant schwannomas,
neurofibrosarcomas,
malignant peripheral nerve sheath tumors,
and pheochromocytomas
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 An 18-month-old boy is found to have an elevated sweat chloride test.
 A newborn develops abdominal distension with lack of stool in the first week of life and is found to have a meconium ileus
CYSTIC FIBROSIS
This laboratory finding is characteristic. When meconium ileus occurs it strongly suggests that the baby has cystic fibrosis.
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A 28 week gestational age stillborn is noted to have multiple anomalies including a large abdominal wall defect to the left of the umbilical cord, which is short. Through the defect is herniated small and large bowel, a portion of liver, and left kidney. There is marked scoliosis. A fibrous band runs from the upper edge of the defect across the chest and through a cleft in the mid-face. The left arm is absent. Which of the following conditions best explains these findings:
Limb-body wall complex
The fibrous bands, which are known as amnionic bands, may be lacking. The body wall defect is known as a gastroschisis and does not involve the umbilical cord. This sporadic condition probably results from early amnion disruption of the embryo.
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Soon after birth, a term infant develops tetany with marked hypocalcemia. This is treated, but at one month of age, a systolic heart murmur is heard on auscultation of the chest. Later in infancy, it is noted that the baby has been almost constantly ill with one infection after another, including respiratory syncytial virus, Candida, and Pneumocystis carinii diagnosed. The baby is most likely to have which of the following diseases:
DiGeorge syndrome
The DiGeorge syndrome involves not only the thymus, which markedly reduces cell-mediated immunity, but also the parathyroids (derived from the same branchial pouches as the thymus) and the heart, leading to congenital heart disease
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A 23 year old woman has the sudden onset of severe lower abdominal pain.
An ultrasound reveals a 4 cm mass involving the right fallopian tube.
The uterus is normal in size.
There is no vaginal bleeding, but a culdocentesis (insertion of a needle through the vaginal vault into the pelvic peritoneal cavity) yields fresh blood.
A urine pregnancy test is positive
. Which of the following conditions has most likely occurred to produce these findings:
This is a classic presentation for a ruptured tubal ectopic pregnancy. Prior infection with tubal scarring may increase the risk for this event..
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Over 75% of all perinatally-acquired HIV infections are secondary to intravenous drug use by an infected mother or her sexual partner
The extent of damage caused by prenatal alcohol exposure depends on the stage of fetal development, biological and environmental variables, and the amount and timing of the mother's alcohol consumption
Maternal age, ethnic and/or socioeconomic differences, genetic influences and the severity of alcoholism in women while pregnant are factors that may make their children more vulnerable to FAS
Once a woman bears a child with FAS, the probability that subsequent children will have FAS is 70 percent
Pregnant women consuming between one and two drinks per day are twice as likely as nondrinkers to have a growth-retarded infant weighing less than 5.5 pounds
Newborns whose mothers drink heavily (an average of five drinks per day, especially during the last three months of pregnancy) may show signs of alcohol withdrawal such as tremors, sleeping problems, inconsolable crying, and abnormal reflexes
Cigarette smoking during pregnancy has long been associated with adverse outcomes, including low birth weight, preterm birth, and intrauterine growth retardation and with infant morbidity and mortality (including sudden infant death syndrome)
Increased tremulousness, altered visual response patterns to a light stimulus, and some withdrawal-like crying have been noted in the newborn infants of women who smoked marijuana heavily while pregnant
Cocaine use can precipitate miscarriage or premature delivery because it raises blood pressure and increases contractions of the uterus
Babies born to cocaine-using mothers appear to have fewer clearly discernible withdrawal symptoms than babies exposed to heroin and other narcotics in the womb.
Although cocaine-exposed newborns tend to be jittery, to cry shrilly, and to startle at even the slightest stimulation these effects have generally been attributed to neurobehavioral abnormalities than withdrawal
The long-term effects of perinatal cocaine exposure are yet to be established.
The most consistent findings show obstetrical complications,
low birth weight,
smaller head circumference,
abnormal neonatal behavior,
and cerebral infarction at birth.
Children with this exposure are easily distracted, passive and face a variety of visual-perceptual problems and difficulties with fine motor skills
Dramatic withdrawal symptoms are the most frequently observed consequence to newborns from prenatal narcotics exposure.
Restlessness,
tremulousness,
disturbed sleep and feeding,
stuffy nose,
vomiting,
diarrhea,
a high-pitched cry,
fever,
irregular breathing,
or seizures usually start within 48-72 hours.
The heroin-exposed infant also
sneezes,
twitches,
hiccups,
and weeps.
Occasionally, these symptoms do not begin until 2-4 weeks after delivery.
This irritability, resulting from overarousal of the central nervous system, usually ends after a month, but can persist for 3 months or more
Growth disturbances and other behavioral effects such as
hyperactivity,
shortened attention spans,
temper tantrums,
slowed psychomotor development,
and impaired visual motor functioning
have been noted in infants and older children born to opiate-dependent mothers
Caffeine intake before and during pregnancy has been associated with an increase risk of fetal loss
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The rate of alcohol use among white women was significantly higher than the rate for Hispanics, while rates of cigarette use for both whites and blacks were significantly higher than the rate for Hispanic women.
In regard to age, rates of alcohol use for women ages 25-29 and 30 and older were both significantly greater than the rate for women under age 25. For cigarette use, differences between rates among the three age groups were not statistically significant
Marijuana was used during pregnancy by an estimated 2.9 percent or 119,000 women;
cocaine by 1.1 percent or 45,000 women;
and a psychotherapeutic medication without physician orders by 1.5 percent or 61,000 women.
Crack was the form of cocaine use most frequently reported.
Observed rates of use for each of the other illicit drugs included in the survey appeared to be much lower
Black women had significantly higher rates than white women for use of any illicit drug and cocaine, and significantly higher rates than Hispanic women for use of any illicit drug and marijuana.
However, the estimated number of white women using any illicit drug or marijuana was substantially greater than the number in other race/ethnic groups.
In comparing differences in illicit drug use among age groups, the rates of crack cocaine use in women ages 25-29 and 30 and older were significantly higher than the rate for those under age 25.
Differences by age within race/ethnic groups appeared to vary by drug, but the statistical significance of these differences was not determined
Overall and within race/ethnic groups, rates of use during pregnancy of marijuana, cocaine, and cigarettes often were significantly higher for women who were not married, currently not employed, had less than 16 years of formal education, or relied on public aid for payment of the hospital.
This pattern was reversed for alcohol use, with significantly higher rates found in women who were currently employed, had completed college, or had private insurance
Of those women who reported no illicit drug use during pregnancy, only 6 percent had used both alcohol and cigarettes. In contrast, 32 percent of those using at least one illicit drug during pregnancy also used both alcohol and cigarettes
Fetal alcohol syndrome (FAS), the leading known cause of mental retardation
Features of FAS include growth deficiency before and after birth; effects on the central nervous system such as intellectual impairment, developmental delays and behavioral problems; and changes in facial features such as a flattened midface, a small jaw, and a thin upper lip
Fetal alcohol effects (FAE) is used to describe individuals exposed to alcohol in the womb who exhibit only some of the attributes of FAS and do not fulfill the diagnostic criteria for FAS
Children with FAS commonly have problems with
learning,
attention,
memory,
and problem solving, along with incoordination,
impulsiveness,
and speech and hearing impairments
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Infant Risks of Multiple Gestation:
 Most of the risks to infants resulting from multiple gestation pregnancies are due to the increased liklihood of premature delivery.
 The more babies who result from a pregnancy, the greater the likelihood of premature delivery.
 The average length of pregnancy is as follows:
 Single baby: 40 weeks
 Twins: 36 weeks
 Triplets: 32 weeks
 Quadruplets: 28 weeks
 Each additional baby in the uterus shortens the pregnancy by about 4 weeks on average.
 The survival and outcomes of premature infants are improving year by year as a result of new developments in high-risk obstetrics and newborn intensive care.
 However, significant risks remain, particularly for infants born very early in pregnancy (before 30 weeks).
Complications
 Another important consideration is the risk of complications of prematurity.
 The risk increases with shorter pregnancies. The most important complications of prematurity are :
Lung problems
 The most common problem confronting premature infants is immaturity of their lungs.
 This problem often requries special treatment and may occasionally cause long-term problems in survivors;
 it may also delay the recovery of some premture babies, especially those born before 28 weeks.
Bleeding complications
 One of the most serious potential complications of prematurity is spontaneous bleeding in the brain.
 This occurs in 10 to 20% of babies born before 32 weeks.
 A chance of hemorrhage of any severity in infants <32 weeks is 20%,
 and the chance of severe brain hemorrhage is 11%.
 The risk is higher in the earliest babies.
 Many of these hemorrhages are small and cause no long-term effects,
 but more severe bleeding episodes may be associated with permanent impairment of brain function.
 Bleeding in the lungs is another serious potential complication in very early premature babies.
Gastrointestinal
Necrotizing enterocolitis is a complication of prematurity resulting in nonviable portions of the intestines. [see my pediatry surgery page]
 This may result in sepsis of the infant,
 often requiring bowel segmental resection.
Eye problems
 Infant s born very prematurely (before 28 weeks) may have abnormal growth of blood vessels on the retina, the back of the eye.
 This is a common complication that usually goes away spontaneously.
 In severe cases, the problem, if untreated, may progress to retinal detachment and blindness.
 Premature infants are also at increased risk of other eye problems such as nearsightedness and eye muscle problems.
 It is quite common for premature infants to require glasses later in childhood because of one or more of these problems.
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 prematurely or at a low birth weight.
 These babies are likely to require high-technology intensive and specialized care in the hospital and prolonged out patient follow-up care as infants and children.
 As a result, many have chronic medical and developmental problems such as:
brain hemorrhages
chronic lung disease
respiratory distress
visual impairment
feeding issues
cerebral palsy
language delays
fine and gross motor skills delays
sensory integration issues
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HYPOXIC-ISCHAEMIC ENCEPHALOPATHY
  Hypoxic-ischaemic encephalopathy (HIE) is a clinical condition which presents with neurological signs in the immediate newborn period. It is usually caused by severe fetal hypoxia with secondary cerebral ischaemia. These infants often have fetal distress with asphyxia and a metabolic acidosis at birth. However some of these infants appear normal for many hours after delivery.
Clinical signs:
 lethargy with poor sucking, decreased tone and poor Moro reflex
 irritability, increased tone, fisting, convulsions
 full fontanelle
 apnoea
 The HIE scoring method may be used to measure the severity of the clinical signs. The score usually increases for the first few days and then returns to normal by a week. A high score is associated with a high mortality while a slow return to normal is associated with a high risk of abnormal neurological development.
Management:
 prevent fetal hypoxia if possible with good labour management
 prompt resuscitation of the newborn if needed
 treat convulsions with phenobarb 20 mg/kg IV as a single dose
 restrict fluid intake to reduce cerebral oedema
 headbox oxygen if needed
 provide good supportive care
 monitor vital signs
 neurodevelopmental assessment after discharge home
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CONVULSIONS
 The clinical presentation is very variable. Instead of the generalised "grand mal" convulsion seen in the child, the most usual pattern in the first week of life is one of jerking or twitching of a focal nature, often shifting rapidly from one part of the body to another. At times focal repetitive twitching of one extremity or one side of the face is all that is seen.
Tonic episodes with hyperextension of trunk, neck and limbs may also occur. Convulsions may even present as apnoeic attacks, flickering eyelids, tonic deviation of eyes to one side or lip smacking.
Causes:
 Brain damage:
 hypoxia, bleeding, oedema
 Brain deformities:
 microcephaly
 hydrocephaly
 porencephalic cyst
 Infection:
 acute meningitis
 chronic e.g. toxoplasmosis, CMV
 Bilirubin encephalopathy
 Biochemical:
 hypoglycaemia
 hypocalcaemia and/or hypomagnesaemia
 hypernatraemia
 hyponatraemia
 water intoxication
 Inborn errors of:
 phenylketonuria
 metabolism (rare)
 galactosaemia
 pyridoxine dependency
 drug withdrawal
A convulsion presenting within 48 hours of birth is most likely to be due to birth asphyxia, birth trauma, hypoglycaemia or meningitis.
Treatment:
 Provide:
 airway
 oxygen if required
 ventilate if necessary
 Anticonvulsant:
 immediate - diazepam PR or paraldehyde IM
 later - IM phenobarbitone, or phenytoin
 Treat specific disorder.
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Choice of milk - consider:
 age and maturity of infant
 socio-economic status of family
 availability of milk produce, e.g. local clinic
Fluid requirements
General guidelines - per 24 hours:
day 1 - 60 ml/kg
day 2 - 75 ml/kg
day 3 - 100 ml/kg
day 4 - 125 ml/kg
day 5 - 150 ml/kg
Thereafter:
The volume of feeds should be increased more slowly in preterm infants
Preterm infants may require up to 180 ml/kg
Term infants continue with 150 ml/kg
Energy requirements
Calculate according to actual weight. Breast milk and most modified and partially modified milk contain 294 kJ/100 ml (70 kcal/100 ml).
Recommended daily requirements:
Preterm 546-630 kJ/kg/24 hrs (130-150 kcal/kg/24 hours)
Term 420-504 kJ/kg/24 hrs (100-120 kcal/kg/24 hours)
(Note : 4.2 kJ = 1 kcal)
Reconstitution of milk products
 Powdered milks: 1 measure (provided) scraped level and not packed, to 25 ml water
 (i.e. 2.5 g powder to 25 ml water)
 Evaporated milk: add equal quantity of water
 Dilution of milks for the first month of life:
 modified milks (once reconstituted) do not need to be diluted
 evaporated milk:- make up 2 parts milk to 3 parts water
 cow's milk:- add 1 part water to 3 parts milk
 partially modified milks require dilution:- follow manufacturers instructions
Energy content
Adjust energy content when necessary by adding one teaspoonful (5 g) of sugar to 100 ml milk.
Do not add sugar to milk used for complementing breast feeds.
Modified milk formulas do not require added sugar.
Frequency
 term babies - demand feed, or 4-hourly i.e. 5-6 feeds a day
 preterm babies - 3 hourly feeds (or more if necessary)
Vitamins, iron and fluoride
 All infants, whether breast or bottle fed, may be given vitamins D and C (in multivitamin syrup) and fluoride from birth. This is important in breast fed infants from poor communities.
 Iron should be given from 1 month in preterm infants. Term infants may also be given iron.
 Extra vitamins and iron can normally be stopped at 6 months if the infants is receiving adequate solids.
  Daily requirements:
 Vitamins
 Vitamin A : 1500 - 3000 u/day
 Vitamin C : 25 -50 mg/day
 Vitamin D : 400 u/day (preterm : 800 u/day)
 Vitamin K1 : 1 mg at birth
Term infants should receive 0.3 ml and preterm infants 0.6 ml of multivite drops a day.
 Iron
 Term infants: 1 mg/kg/day (maximum 15 mg/day)
 Preterm: 2 mg/kg/day (maximum 15 mg/day)
1 ml of iron drops contains 25 mg Fe
Term infants usually receive 0.3 ml and preterm infants 0.6 ml of multivite drops a day.
 Fluoride - 0.25 mg/day
Introduction to solids
 solids may be started after 12 weeks.
 the age at which the infant is weaned depends largely on mother's interpretation of the baby's needs
 introduce small amounts of food, one at a time, starting with cereals, puree fruits and vegetables
 gradually progress to a full mixed diet
N.B. Infants with a strong history of allergy in the family:
 avoid cow's milk for at least 6 months (breast or soya)
 delay introduction of solids
 no citrus, eggs or cheese before 9-12 months
 only wheat-free cereals
Assessment of satisfactory feeding
 helpful sign = a content infant with a satisfactory weight gain (according to the growth chart)
 if there is failure to thrive:
 examine to exclude disease
 assess adequacy of milk and kilojoule intake
 exclude abnormal losses, infection, acidosis and metabolic disturbances, congenital or acquired conditions
Feeding technique
 Cup feeding is preferable to bottle feeding as a cup is far easier to clean
 "Prop-feeding"' is out!
 no normal infants should be fed for longer than 20 minutes
 give advice on cleanliness of cup, bottle and teat, sterilization, storage of reconstituted milk, correct temperature
 warn mothers about common mistakes e.g. making feeds too strong (hypernatraemia) or too weak (failure to thrive), and the difference between thirst and hunger (a thirsty baby needs cooled, boiled water, not milk).
Feeding preterm and underweight for gestational age infants
 Less than 1.5 kg
 IV fluids for first 48 hours (using Neonatalyte) then
 Nasogastric tube feeds:
 Tube feeding is necessary until the baby is able to suck strongly enough around 35-36 weeks
 Note:
Nasogastric tube length to be passed = 2x distance from suprasternal notch to xiphisternum, plus 2.5 cm.
 Over 1.5 kg
 start feeding shortly after birth (preferably breast milk)
 may require nasogastric tube feeds at first, depending on gestational age. (Use expressed breast milk)
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