Pedia Flashcards
Origin of pituitary gland
Rathke’s pouch
Most common pituitary tumor in children
Craniopharyngioma
Most common pituitary tumor in adults
Prolactinoma
Absent or low GH
Hypopituitarism
Polyuria
> 5cc/k/hr
Polyuria and polydypsia
Diabetes Insipidus
ADH deficiency
Central Diabetes Insipidus
ADH insensitive kidneys
Peripheral Diabetes Insipidus
Most common cause of Diabetes Insipidus
Brain tumor
Pale urine (SG 1.001-1.005) Hypernatremia
Diabetes Insipidus
Breast bud before 8 years old
Precocious puberty
Testicular enlargement before 9
Precocious puberty
Most common cause of Precocious puberty
Hypothalamic hamartomas
Unilateral cafe au lait spots
Precocious puberty
Polyostotic fibrous dysplasia
McCune Albright Syndrome
Treatment for McCune Albright Syndrome
Leuprolide acetate
21-hydroxylase deficiency
Congenital Adrenal Hyperplasia
Most common cause of ambiguous genitalia
Congenital Adrenal Hyperplasia
Treatment for Congenital Adrenal Hyperplasia
Cortisol
Male phenotype of Turner’s Syndrome
Noonan Syndrome
Pulmonary stenosis
Pigeon breast
Webbed neck
Noonan Syndrome
Most common cause of congenital hypothyroidism
Thyroid dysgenesis
Most common site of ectopic thyroid
Base of tongue
Sublingual
Prolonged jaundice
Growth deceleration
Large tongue
Congenital Hypothyroidism
Drug of choice for Congenital Hypothyroidism
Levothyroxine
Most common cause of acquired hypothyroidism
Thyroiditis
Most common cause of thyroid disease in children
Thyroiditis
Autoimmune
Hypothyroidism
Hashimoto’s thyroiditis
Autoimmune
Hyperthyroidism
Grave’s disease
Kettering or Bart’s test
AFP
Estriol
Beta HCG
Catecholamine secreting tumor
Pheochromocytoma
Diagnostic for Pheochromocytoma
Urine VMA
Treatment for HTN crisis in Pheochromocytoma
Phenoxybenzmine
Newborn Screening
48-72 hours after birth
5 alpha reductase deficiency
Male pseudohermaphroditism
Galactose 1 phosphate uridyltransferase
Galactosemia
Episodic hemolytic anemia
G6PD
Heinz bodies
G6PD
Phenylalanine hydroxylase
Phenylketonuria
Tetrahydobiopterin
Phenylketonuria
Mousy odor
Phenylketonuria
Diagnosis of Phenylketonuria prenatally
DNA probe
Test for urinary phenylpyruvate
FeCl3
FAH
Tyrosinemia I
Tyrosine aminotransferase
Tyrosinemia II
4-HPPD
Tyrosinemia III
Homogentisate oxidase
Alkaptonuria
Tyrosine hydroxylase
Albinism
Acute hepatic crisis
Acute peripheral neuropathy
Renal involvement
Tyrosinemia
Succinylacetoacetate and succinylacetone in urine
Tyrosinemia
Most common inborn error of methionine metabolism
Homocystinuria
Cystathione synthase
Homocystinuria
Treatment for Homocystinuria
Vitamin B6
Branched chain alpha ketoacid dehydrogenase
Maple Syrup Urine disease
Branched chain amino acids
Leucine
Isoleucine
Valine
Poor feeding Lethargy and coma Hypertonic Opisthotonus Maples syrup odor
Maple Syrup Urine disease
Sweaty feet
Acrid
Glutaric acidemia
Isovaleric aciduria
Boiled cabbage
Tyrosinemia
Hypermethioninemia
Rotting fish
Trimethylaminuria
Zellweger syndrome
Infantile Refsum disease
Adrenoleukodystrophy
Very Long Chain Fatty Acid disorder
7-dehydrocholesterol reductase
Smith-Lemli-Opitz Syndrome
Syndactyly
Smith-Lemli-Opitz Syndrome
Hexosaminidase a
Tay Sach’s Disease
Cherry red spot
Tay Sach’s Disease
Niemann-Pick’s Disease
Hexosaminidase a and b
Sandhoff disease
Coarse granulations in bone marrow histiocytes
Sandhoff disease
Sphingomyelinase
Niemann-Pick’s disease
Foam cells
Fabry
Niemann-Pick’s disease
Ceramidase
Farber/Lipogranulomatosis
Periarticular subcutaneous swelling
Progressive arthropathy
Farber/Lipogranulomatosis
Pipercolate oxidase
Cerebrohepatorenal/Zellweger disease
Copper dependent enzymes
Menkes/Kinky/Steely Hair disease
Pili torti
Hypotonia
Menkes/Kinky/Steely Hair disease
Arylsulfatase A
Metachromatic leukodystrophy
Fronto-occipital demyelination
Metachromatic leukodystrophy
(+) urine sulfatide
Metachromatic leukodystrophy
Galactocerebrosidase
Globoid Cell Leukodystrophy
Tryptophan deficiency
Hartnup disease
Scaly rash like Pellagra
Episodic cerebellar ataxia
Hartnup disease
Dermatitis
Diarrhea
Dementia
Death
Pellagra
Phytanol coA dehydroxylase
Refsum disease
Peroxin 7
Refsum disease
alpha-L-iduronidase
Hurler Syndrome
Corneal clouding
Coarse facies
Hurler Syndrome
Iduronate sulfatase
Hunter Syndrome
Glucose 6 phosphatase
G6PD/Von Gierke’s disease
Hepatomegaly
Hypoglycemia
Lactic acidosis
G6PD/Von Gierke’s disease
Protects RBC from oxidative stress
Glutathione reductase
Cherubin facies
G6PD/Von Gierke’s disease
Definitive diagnosis of G6PD/Von Gierke’s disease
Liver biopsy
Medications used for G6PD/Von Gierke’s disease
Allopurinol
HMG CoA reductase inhibitors
Fibrates
Avoid in G6PD/Von Gierke’s disease
Sulfas
Anti malarial
Fava beans
Aspirin
Familial idiopathic calcification of basal ganglia
Fahr disease
Bilateral basal ganglia calcification
Parkinsonism
Fahr disease
Hypoxanthine guanine phosphoribosyl transferase (HGPRTase)
Lesch-Nyhan Syndrome
Self injury/mutilation
Hyperuricemia
Extrapyramidal symptoms
Lesch-Nyhan Syndrome
Definitive diagnosis for Lesch-Nyhan Syndrome
HPRT enzyme analysis
Prevent renal failure in Lesch-Nyhan Syndrome
Allopurinol
Xanthine oxidase inhibitor
Allopurinol
Frozen eyeball
Retinitis pigmentosa
Kearns-Sayre syndrome
Bony spicule on fundoscopy
Retinitis pigmentosa of Kearns-Sayre syndrome
Most frequent mitochondrial disease of perinatal period and infancy
Leigh encephalopathy/Subacute Periventricular Necrotizing Encephalopathy
Small vessel vasculitis
Henoch Schonlein Purpura
Medium vessel vasculitis
Panarteritis nodosa
Large vessel vasculitis
Takayasu
Most common vasculitis in children
Henoch Schonlein Purpura
Anaphylactoid purpura
Henoch Schonlein Purpura
Palpable purpura following URTI
Henoch Schonlein Purpura
Leukoclastic angitis
Henoch Schonlein Purpura
Second most common vasculitis in children
Kawasaki disease/Mucocutaneous lymphadenopathy
Conjunctivitis
Strawberry tongue
Unilateral cervical lymphadenopathy
Kawasaki disease/Mucocutaneous lymphadenopathy
Drug of choice for Kawasaki disease/Mucocutaneous lymphadenopathy
IVIG
Most common cause of death Kawasaki disease/Mucocutaneous lymphadenopathy
Coronary artery aneurysm
Hepatic failure associated with aspirin
Reye syndrome
Fibrinoid necrosis of medium vessels
Blindness
Panarteritis nodosa
Treatment for Panarteritis nodosa
Corticosteroids
Most common systemic disease associated with Panarteritis nodosa
Hepatitis B
Frataxin gene
Chromosome 9
Friedrich ataxia
Ataxia
Nystagmus
Kyphoscolosis
Pes cavus
Friedrich ataxia
PMP22 gene
Charcot-Marie-Tooth disease
Peroneal muscular atrophy
Foot drop
High arched foot
Stork legs
Charcot-Marie-Tooth disease
Most common peripheral neuropathy
Charcot-Marie-Tooth disease
Cerebellar and retinal hemangioblastoma
Von Hippel Lindau disease
Associated cancer in Von Hippel Lindau disease
Renal cell carcinoma
Pulseless disease with claudication
Takayasu
Treatment for Takayasu
Steroids
Progressive ataxia
Apraxia
Choreoathetosis
Telangiectasias
Ataxia-Telangiectasia
Deletion of short arm of chromosome 5
Cri du chat syndrome
XXY
Decreased muscle tone
Dysmetria
Kleinfelter syndrome
45X Sexual infantilism Webbed neck Short Ovarian dysgenesis
Turner syndrome
Paternal deletion chromosome 15
Prader Willi syndrome
Obese
Hyperphagia
Mental retardation
Prader Willi syndrome
Maternal deletion chromosome 15
Angelman syndrome
Happy puppet
Angelman syndrome
Macroglossia
Intractable neonatal hypoglycemia
Facial nevus flammeus
Earlobe creases
Beckwith-Wiedemann Syndrome
Pathogens for early onset sepsis
Group B Streptococcus
E. Coli
Listeria monocytogenes
Conjunctivitis in neonates
Ophthalmia Neonatorum
Pathogens for late onset sepsis
Staphylococcus aureus
Gram negative enterics
TORCHS
Toxoplasmosis Others Rubella CMV Herpes Simplex Syphilis
Toxoplasmosis
Toxoplasma gondii
Chorioretinitis
Hydrocephalus
Intracranial calcifications
Toxoplasmosis
Treatment for Toxoplasmosis
Pyrimethamine
Treponema pallidum
Syphilis
Anterior bowing of mid portion of the tibia
Saber shins
Leads to saber shins
Periostitis of long bones
Barrel shaped upper incisors during 6 yrs old
Hutchinson teeth
Abnormal lower molars with small biting surface and excessive cusps
Mulberry molars
Depression of nasal root due to destruction of the bone and cartilage
Saddle nose
Unilateral or bilateral synovitis of the lower extremities
Clutton joint
Treatment for Syphilis
Penicillin
Varicella zoster
Neonatal varicella
Associated with Horner syndrome
Neonatal Varicella
Zigzag scarring in dermatomal distribution
Cicatrix
Treatment for Varicella
Acyclovir
Sensorineural hearing loss
Cataract and glaucoma
PDA
Congenital Rubella
Blueberry muffin lesion
Congenital Rubella
Diagnostic of Congenital Rubella
Rubella specific IgM Antibody