Peds syndromes

Question 1

Rett

Answer 1

1. X- linked deletion mutation 2. methyl- CpG- binding protein 2 (MECP2) 3. Females 6-18 mo 4. progressive stereotaxic hand movements 5. rapid loss of milestones 6. C- shaped curve scoliosis unresponsive to bracing Tx: Instrumentation of all of the kyphosis/ scoliosis

Question 2

Fibrodysplasia Ossificans Progressiva (myositis progressiva/ stoneman syndrome)

Answer 2

1. Activin receptor type IA/activin-like kinase 2 (ACVR1/ALK2)- BMP 1 receptor (stoned men listen to ACDC) 2. Overproduces BMP-4 3. short valgus gt. toe 4. Progressive HO of tendons, ligs, fascia, and skeletal muscle Tx: Do not excise! can lead to further ossification.

Question 3

Friedreich ataxia

Answer 3

AR- frataxin gene GAA repeating sequence Onset between 7 and 15 yrs and death between 40 & 50 Staggering wide based gait, nystagmus, cardiomyopathy, cavus foot, and scoliosis

Question 4

Disproportionate dwarfs

Answer 4

1. Kniest syndrome

Question 5

Proportionate dwarfs

Answer 5

1. MPS (Morquio, Hunter, Hurler, Sanfilippo) 2. Cleidocranial dysplasia

Question 6

Hurler’s syndrome

Answer 6

AR inheritance worst prognosis of MPS Dermatan/ Heparan sulfate Mental retardation bone marrow transplant extends lifespan Features: Short neck, coarse facies, claw hands, odontoid hypoplasia, decreased hip extension, anterior vertebral wedging, cardiac valvulopathy

Question 7

NF-1

Answer 7

Auto dom inheritance on X’some 17- inactivating mutation Clinical diagnosis= 2 of any of the following: 1. antero-lat tibial bowing and pseudarthrosis 2. Lisch nodules 3. axillary freckling 4. cafe-au-lait spots 5. optic gliomas 6. neurofibromas 7. 1st deg relative w/ NF

Question 8

Prox fem focal deficiency

Answer 8

Short bulky thigh flexed, abducted and ext rotated Associated w/ Coxa vara or fibular hemimelia approx 50% Bilateral in 50% SHH gene Classification: A. Fem head present w/ normal tab B. Fem head present w/ dysplastic tab C. Fem head absent w/ super dysplastic tab D. Fem head and tab absent

Question 9

Kocher criteria

Answer 9

Order of sensitivity: 1. Temp> 38.6 C/ 101.5 F 2. CRP > 2 mg/dL (74% probability in combo w/ refusal to bear weight) 3. ESR> 40 4. Inability to bear weight 5. WBC > 12k 0/4= <0.2% 1/4= 3% 2/4= 40% 3/4= 93% 4/4= 99.6%

Question 10

DDH

Answer 10