Misc Peds Disorders

Question 1

glutaric aciduria type 1

Answer 1

AR
on newborn screen, but may be missed
typically presents at 6-18 mo, macrocephaly, poor feeding, irritable, mild hypotonia, dystonia, dyskinesia
can look like child abuse when macrocephaly leads to easily acquired subdural hematomas

dx w/ urine organic acids

Question 2

dx criteria for NF1

Answer 2

need 2 or more of:
6+ cafe au lait spots
2+ neurofibromas or 1 plexiform neurofibroma
freckling in axillary or inguinal regions
optic glioma
2+ Lisch nodules
sphenoid dysplasia or tibial pseudoarthrosis
affected 1st deg relative

Question 3

tuberous sclerosis

Answer 3

AD (2/3 de novo)
genes: TSC1 and TSC2
benign tumors in brain, kidney, heart, lung + skin findings

Question 4

pathognomonic finding for tuberous sclerosis

Answer 4

cardiac rhadomyoma