EM day 1 Flashcards
child’s growth was normal during early infancy but began to lag later on, becoming more obvious during mid-childhood/prepubescence. The upper and lower segment ratio is slightly immature, and bone age is retarded.
constitutional delay in growth,
As the height and arm span are equal, it excludes short stature due to
short limb dwarfism or achondroplasia.
- children whose parents have short stature.
- small at birth and their growth remains slow.
- do not achieve anticipated height
- their growth velocity is less than normal, but it is more than 4 cm per year.
- Puberty and sexual maturation occurs within the normal age.
- Bone age is normal for the chronological age.
Familial short stature
Bone age is normal or may be slightly delayed. These children often have learning disabilities in school. There is no evidence of growth hormone deficiency.
Primordial dwarfism or intrauterine growth retardation occurs due to arrest of fetal growth during early embryonic life. This causes reduction in the total number of cells, leading to severe intrauterine growth retardation and diminished growth potential during later life.
normal in weight and height at birth and may grow normally for the first few months of life. Delay in growth is observed at about 1 year of age. Growth is regular but slow, and the child gains less than 4 cm per year in height. Ratio of upper and lower segments is normal. Bone age is less than the chronological age by about 2 years.
The children with hypopituitarism or human growth hormone deficiency
typically presents at birth with short limbs, long narrow trunk, and large head with prominent forehead. Limb shortening is greatest in the proximal segments. Motor milestones are delayed, but intelligence is normal. Delayed walking is due to hypotonia and difficulty in balancing a large head on a normal size trunk and short extremities. It is transmitted as an autosomal dominant trait with complete penetrance.
Achondroplasia
Children with cerebral palsy and other neurologic disorders are likely to have feeding dysfunction causing inefficient feeding through spillage as well as aspiration. Besides the prevalence of gastroesophageal reflux, the inability to communicate hunger and satiety, generally reduced physical activity, and sometimes slow feeding also lead to decreased intake of calories and nutrients. what is the best way for frequent assessment of nutritional status ?
Weight gain, linear growth, and body mass index may be difficult to obtain accurately in affected children having musculoskeletal contractures or scoliosis. Monitoring skinfold thickness and arm circumference with a caliper is more useful in such children to assess overall nutritional status. The skin fold thickness correlates with total body fat, and the upper arm circumference is a sensitive index of lean body mass.
most reliable test for celiac disease,
Antiendomysial antibody testing, although results are technician-dependent. The gold standard for diagnosis remains a small intestinal biopsy, revealing blunting of the small intestinal villi while consuming gluten-containing foods as well as the response to a gluten-free diet. However, in milder cases where the villous atrophy is less severe, the diagnosis rests on clinical data with histological data and serological tests.
If a child is uncooperative for vision testing, a second attempt should be made 4 to 6 months later for the 3-year-old and 1 month for children 4 years and older. Children unable to be tested after 2 attempts should be
referred to an ophthalmologist experienced in the care of children. A referral should also be made when an abnormality is suspected or detected.
Earliest visual acuity measurements can usually be performed at approximately
3 years of age.
Vision testing machines are being used but can be difficult for children younger than
3 to 4 years of age to use.
What is Photoscreening?
Photoscreening involves photographing both pupils with a calibrated camera under prescribed conditions that show a red reflex.
Photoscreening can identify what abnormalities?
can identify ocular abnormalities, such as strabismus, refractive errors, media opacities, and retinal abnormalities; however, it is not a substitute for accurate visual acuity measurement.
Ophthalmoscopy exam might be possible starting at
at 3 to 4 years of age if a child is willing to fixate on an object. It is useful to evaluate the optic nerve and retinal vasculature; however, it does not assess visual acuity.
There is considerable evidence of an association between exposure to diesel exhaust and an increased risk of
lung cancer.
bilateral facial and abducens nerve paralysis. Other cranial nerves (e.g. Hypoglossal) may also be involved and occurs with equal incidence in both males and females. Most cases are sporadic, but familial forms have also been reported.
Moebius Syndrome
This syndrome is believed to be caused by a defect in the development of the rhombencephalon or an interruption in its vascular supply during intra-uterine development.
What can cause complete ophthalmoplegia, bilateral ptosis, profound weakness, and decreased tone, which worsens as the day progresses.
Congenital myasthenia gravis.
Some of these neonates may have a transient neonatal myasthenia gravis due to a transplacentally acquired antibody that causes symptoms in the first few weeks of life and then resolves completely as the antibody disappears.
Injury due to forceps delivery is a common cause of facial nerve injury in neonates but is unlikely to have
eye findings.
Aplasia of depressor anguli oris muscle, when bilateral, can give the appearance of an expressionless look in lower half of face, but does not have the associated
eye findings.
full term female neonate and reports difficulty with breast feeding at 24 hours of life, complete adduction of both eyes. No facial expressions appear on crying, and her eyes do not close fully during sleep, normal tone and actively moves all 4 limbs, with normal gag reflex and no dysmorphic features. Her Moro’s reflex is symmetric, and deep tendon reflexes elicit a 2+ response with an equivocal Babinski response.
Moebius Syndrome
presents with bilateral facial paralysis but also causes areflexia and weakness,
Congenital myotonic dystrophy
- autosomal dominant, trinucleotide repeat disorder
This patient developed hyponatremia due to a combination of administration of excessive amount of fluids and SIADH caused by the stress of surgery. Since she is now showing features of cerebral edema, it requires
quick correction of her serum sodium before her cerebral edema increases further and leads to brainstem herniation. However, too rapid correction of serum sodium level is likely to lead to central ponitne myelinolysis, so the correction should be done in a manner that will not increase her sodium by >12mEq/L in a 24-hour period.
Achondroplasia, the most common skeletal dysplasia, is transmitted as an autosomal dominant trait; although, 75% of affected infants result from a new mutation.
Complications of abnormal linear growth require close monitoring. Midface underdevelopment can lead to
obstructive apnea due to smaller than average airway size and adenoidal hypertrophy. Retractions, glottal stops, choking, intermittent breathing, deep compensatory sighs, recurrent night-time awakening or emesis would require additional pulmonary evaluation and polysomnography.
