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8/13/2019 ppt kelainan bawaan

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pediatric

Down Syndrome. The association of trisomy 21 (Down syndrome) withinstability of the upper cervical spine is well known; estimates of theincidence of instability range from 10-25%. Reported abnormalitiesinclude occipitoatlantal instability, atlantoaxial instability, occipitalizationof the atlas, and os odontoideum. The number of patients with symptomsrelated to C1-2 instability or other anomalies of the cervical spine is much

lower. A minority of Down syndrome patients with cervical instability have

neurologic symptoms (see Chapter 70). Patients with Down syndrome andupper cervical instability who have abnormal neurologic signs have highlyvariable manifestations.

Obvious abnormalities such as incontinence, gait disturbances, and

seizures may be the presenting symptoms in some patients, whereasothers may be noted to have intermittent balance problems or decreasedexercise tolerance.

The incidence of instability increases with age.


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Unfortunately, significant neurologic injury, including quadriparesis or

death, has been reported in previously asymptomatic patients.

The Orthopedic Section of the American Academy of Pediatrics has

recommended screening of patients with Down syndrome with neurologic

examination and lateral radiographs in the neutral, flexed, and extended

positions.

Patients with no neurologic abnormalities but with radiographic evidence

of instability require further evaluation; at the least, they should be

restricted from contact sports and followed periodically.


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Patients with myelopathy and those with marked instability without

myelopathy are candidates for cervical spine fusion. Decision-making is

complicated by the lack of knowledge of the long-term outcome of

patients with myelopathy treated nonoperatively and by the variability of

outcome in patients treated surgically. Unfortunately, the results of

surgical treatment of instability in Down syndrome are less predictable

than that of instability in other conditions. Failure of fusion and graft

resorption may occur, and the incidence of complications is high. It is notlikely that pre-existent myelopathic changes will improve. Based on these

findings, it has been recommended that patients with instability and no

neurologic abnormality be treated nonoperatively. When operative

intervention is necessary, all parties must be aware of the high potential

for serious complications.


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Down Syndrome and Acute Leukemia

and Myeloproliferation Acute leukemia occurs about 14 times more frequently in children with Down syndrome than in the

general population. The ratio of ALL to AML in patients with Down syndrome is the same as that inthe general population. In Down children with ALL, the expected outcome of treatment is the sameas that for other children.

However, patients with Down syndrome demonstrate a remarkable sensitivity to methotrexate andother antimetabolites, which can result in substantial toxicity if standard doses are administered.

In AML, however, patients with Down syndrome have much better outcomes, with a greater than80% long-term survival rate, than does the non-Down syndrome population. After inductiontherapy, these patients require less intensive therapy to achieve the better results. Neonates withDown syndrome are prone to develop a transient leukemia or myeloproliferative syndromecharacterized by high leukocyte counts, blast cells in the peripheral blood, and associated anemia,thrombocytopenia, and hepatosplenomegaly. These features usually resolve within days to a fewweeks after onset. Although these neonates may require temporary transfusion support, they donot require chemotherapy. However, patients who have Down syndrome and who develop thistransient leukemia or myeloproliferative syndrome require close follow-up because 20-30% willdevelop typical leukemia within the first few years of life.


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Zellweger syndrome

Newborn infants withZellweger syndromeshow strikingand consistent abnormalities that are easily recognized. Ofcentral diagnostic importance are the typical facialappearance (high forehead, unslanting palpebral fissures,hypoplastic supraorbital ridges, and epicanthal folds; Fig.75-3), severe weakness and hypotonia, neonatal seizures,and eye abnormalities (cataracts, glaucoma, cornealclouding, Brushfield spots, pigmentary retinopathy, andoptic nerve dysplasia). Because of the hypotonia and"mongoloid" appearance, Down syndrome may be

suspected. Infants with Zellweger syndrome rarely livemore than a few months. More than 90% show postnatalgrowth failure. Table 75-2lists the main clinicalabnormalities.


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Autoimmune thyroid disease

Autoimmune thyroid disease has an increased

incidence in children with congenital rubella.

Lymphocytic thyroiditis is also associated with

certain chromosomal disorders, particularly

Turner syndrome and Down syndrome. In

children with Down syndrome, one study

reported that 28% had antithyroid antibodies(predominantly anti-TPOs), 7% had subclinical

hypothyroidism, 7% had overt

hypothyroidism, and 5% had hyperthyroidism.


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Antithyroid antibodies may also be found in

almost half the siblings of affected patients

and in a significant percentage of the mothers

of children with Down syndrome or Turner

syndrome without demonstrable thyroid

disease. They are also found in 20% of

children with diabetes mellitus and in 23% ofchildren with the congenital rubella syndrome.


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Diabetes Melitus

Lipoatrophic diabetes : Down syndrome


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Cancer Type Risk Factor

Comments

Genetic conditions : Down syndrome and

neurofibromatosis type 1 are strongly

associated. Familial monosomy 7 and several

other genetic syndromes are also associated

with increased risk.

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