Pediatrics CDB Flashcards
Pituitary Gland: Location?
Sella Turcica
Anterior Pituitary Gland
Adenohypophysis
Posterior Pituitary Gland
Neurohypophysis
Pituitary Gland: Embryology?
Rathke’s pouch
The most common type of tumor in the pituitary gland in pediatrics
Cranipharyngiomas
Definitive diagnosis of Hypopituitarism
Absent or Low levels of Growth Hormone
Polyuria (>5cc/k/hr) and polydypsia
Diabetes Insipidus
Master Gland
Pituitary Gland
Located in Supraoptic nuclei
Vasopressin (ADH)
Located in Paraventricular nuclei
Oxytocin
Vasopressin Deficiency
Central Diabetes Insipidus
Vasopressin insensitive kidneys
Nephrogenic Diabetes Insipidus
Most common etiology of central diabetes insipidus
Brain Tumors
2nd Most common etiology of central diabetes insipidus
Idiopathic
In Diabetes Insipidus, AVP acts on the
Distal Tubules
Significant diagnostic result of Diabetes Insipidus
HYPERnatremia
Precious Puberty
Polyostotic fibrous dysplasia
UNILATERAL café-au-lait spots
McCune Albright Syndrome
The Coast Of Maine TRIAD:
McCune Albright Syndrome:
Precious Puberty
Polyostotic fibrous dysplasia
UNILATERAL café-au-lait spots
DOC for McCune Alright Syndrome
Leuprolide acetate
21-hydroxylase Deficiency
Congenital Adrenal Hyperplasia
Mutation of CYP21A2 on short arm of chromosome 6
Congenital Adrenal Hyperplasia
Define Tall Stature?
Taller than 2 standard deviation ABOVE the mean
Cerebral Gigantism
Sotos Syndrome
Define Short Stature?
More than 3 standard deviation BELOW mean for age and gender
Male phenotype of Turner’s Syndrome
Noonan Syndrome
Pigeon breast
Web neck
Hypertelorism
Noonan Syndrome
Most common caused by thyroid dysgenesis
Hypothyroidism
Seen in maternal autoimmune disease like Hashimoto’s Ds.
Thyrotropin Receptor-Blocking Antibody
Most common cause by some form of THYROID DYSGENESIS of which ectopic thyroid is the most frequent
Congenital Hypothyroidism
Most common location of congenital hypothyroidism
Base of the tongue or sublingual
Earliest sign of congenital hypothyroidism
Prolonged jaundice
Earlobe crease + Macroglossia
Beckwith Syndrome
Thyroid panel result of Congenital Hypothyroidism
TSH ⬆️
T3 ⬆️
T4 ⬇️
Most common cause of thyroid disease in children
Thyroiditis
Most common cause of acquired hypothyroidism
Thyroiditis
Lymphocytic thyroiditis
Hashimoto’s Thyroiditis
Autoimmune thyroiditis
Hashimoto’s Thyroiditis
Components of Triple Screen Test
Beta HCG
Estriol
Alpha Fetoprotein
Triple Screen Test aka
Kettering Test
Barts Test
Catecholamine secreting tumor of the chromaffin cells
Pheochromocytoma
Guthrie Test
Newborn Screening
Guthrie Test Includes:
Congenital Adrenal Hyperplasia Congenital Hypothyroidism G6PD Deficiency Galactosemia PKU Maple Syrup Disease
Prolonged physiologic jaundice + genital edema
Congenital Hypothroidism
Female Pseudo-Hermaphroditism
21 Hydroxylase Deficiency
11 alpha-hydroxlase Deficiency
3 beta hydroxysteroid dehydrogenase Deficiency
5 alpha reductase deficiency
Male PseudoHermaphrodism
Persistent Mullerian Duct Syndrome
Male PseudoHermaphrodism
Deficiency of Cortisol
Congenital Adrenal Hyperplasia
Classic form of Galactosemia
Galactose-1-phosphate uridyl transferase deficiency (GALT)
Episode or chronic hemolytic anemia
G6PD Deficiency
Heinz bodies + Reticulocytosis
G6PD Deficiency
Mousy or Musty Odor
Phenylketonuria
Deficiency of Tetrahydrobiopterin
Phenylketonuria
PAH Gene associated with Seizures
Folling’s Disease
Required to convert Phenylalanine to Tyrosine
Tetrahydrobiopterin
Pre-natal diagnosis of defects in phenylalanine hydroxylase deficiency or dihydropterin reductase
DNA Probes
Less reliable screening test employs FeCl3 to detect phenylpyruvate
Urinalysis
Tyrosine Precursors except:
Tryptophan
Niacin
Serotonin
Tyrosinemia Type 1
Fumaryl Acetoacetate Hydroxylase (FAH) deficiency
Tyrosinemia Type II
Tyrosine aminotransferase (TAT) Deficiency
Tyrosinemia Type III
4-hydroxy-phenylpyruvate dioxygenase (4-HPPD) Deficiency
Clinical Manifestation of TYROSINEMIA
Acute hepatic Crisis
Renal involvement
Acute peripheral neuropathy
Diagnostic result of Tyrosinemia found in Urinalysis
Succinyacetoacetate
Succinylacetone
Most common inborn error of METHIONINE metabolism
Homocystinuria
Basic Defect of Homocystinuria
Cystathione synthase deficiency
Tx of Homocystinuria
Vitamin B6 (Pyridoxine) 200mg-1g/day
Branched chain alpha ketoacid dehydrogenase deficiency
Maple Syrup Urine Disease
On Physical Exam:
Hypertonicity
Muscular rigidity
Opisthotonus
Maple Syrup Urine Disease
Urine Odor: Sweaty Feet
Glutaric Acidemia (Type III)
Urine Odor: Acrid
Glutatic Acidemia (Type III)
Urine Odor: Swimming pool
Hawkinsinuria
Urine Odor: Boiled Cabbage
Hypermethioninemia
Urine Odor: Tom Cat Urine
Multiple Carboxylase Deficiency
Urine Odor: Rotting Fish
Trimethylaminuria
Urine Odor: Rancid Butter + Boiled Cabbage
Tyrosinemia
Peroxisomal Deficiency
Zellweger Syndrome
Infantile Refsum Disease
Adrenoleukodystrophy
7-dehydrocholesterol reductase deficiency
Smith-Lemi-Optiz Syndrome
Mutation in the Sterol Delta - 7 - Reductase Gene (DHCR7)
Smith-Lemi-Optiz Syndrome
Characterized of hypospadias and syndactyly between toes 2 & 3 (fusion)
Smith-Lemi-Optiz Syndrome
Hexosamide A Deficiency
Tay-Sachs Disease
GM2 Gangliosidosis
Tay-Sachs Disease
Cherry-Red Spot with Optic Atrophy
Tay-Sachs Disease
Hexosaminidase A and B Deficiency
Sandhoff Disease
Coarse granulation in bone marrow histiocytes
Sandhoff Disease
Glucocerebrosidase Deficiency
Infantile Gaucher Disease
Crumpled Paper/Tissue Appearance
Gaucher Cells
Oculomotor Apraxia and Bilateral Strabismus
Infantile Gaucher Disease
Spingomyeline Deficiency
Infantile Neimann-Pick Disease
Vacuolated Histiocytes (Foam Cells)
Infantile Neimann-Pick Disease
Lipogranulomatosis
Farber Disease
Ceramidase Deficiency
Farber Disease
Horse Cry
Farber Disease
CerebroHepatoRenal Disease
Zellweger Disease
Pipecolate Oxidase Deficiency
Zellweger Disease
Lorenzo’s Oil
Adrenoleukodystrophy
Kinky or Steely Hair Disease
Menkes Disease
Trichopoliodystrophy
Menkes Disease
2nd most common Deficiency in Copper-dependent enzyme
Menkes Disease
Most common Deficiency in Copper-dependent enzyme
Willson’s Disease
Pili Torti
Menkes Disease
Arylsulfatase A Deficiency
Metachromatic Leukodystrophy (MLD)
Fronto-Occipital Demyelination
Metachromatic Leukodystrophy
Globoid Cell Leukodystrophy
Krabbe Disease
Galactocerebrosidase Deficiency
Krabbe Disease
Chromosome 14
Krabbe Disease
Pellagra-like Dermatosis
Hartnup Disease
Tryptophan Deficiency
Hartnup Disease
Phytanoyl-CoA Hydroxylase(Chromosome 10) or Peroxin-7(Chromosome 6)
Deficiency
Refsum Disease
Cannot Digest Dairy Products
Refsum Disease
Glycogen Deficiency Type 1
Von Gierke’s Disease
Glucose-6-Phosphate Deficiency
Von Gierke’s Disease
Galactose 1-Phosphate Uridyl Transferase (GALT) Deficiency
Galactosemia
Hypoxanthine guanine phosphoribosyl transferase (HPRT) Deficiency
Lesch-Nyhan Syndrome
Clinical Manifestation:
Self injurious behavior
Self mutilation
Lesch-Nyhan Syndrome
MOA: Inhibits xanthine oxidase
Allupurinol
- Progressive external ophthalmoplegia
- Retinitis pigmentosa
Kearans-Sayre Syndrome
Bony Spicule Appearance
Retinitis Pigmentosa
Most frequent mitochondrial disease of the perinatal period and early infancy
Leigh Encephalopathy
Subacute Periventricular Necrotizing Encephalopathy (SPNE)
Leigh Encephalopathy
Most common vasculitis in children
Henoch-Schonlein Purpura
Anaphylactoid purpura
Henoch-Schonlein Purpura
Vasculitis of SMALL VESSELS
Henoch-Schonlein Purpura
Rash describe as palpable purpura on dependent area
Henoch-Schonlein Purpura
Mucocutaneous Lymphadenopathy
Kawasaki Disease
Polyarteritis nodosa
Panarteritis nodosa
Necrotizing vasculitis of small and medium sized vessels
Panarteritis nodosa
Vasculitis of large vessels
Takayasu’s Arteritis
Pulseless Disease
Takayasu’s Arteritis
Hammer Toes
Friedreich Ataxia
Stork Legs
Charcot-Marie-Tooth Disease
Cerebellar Hemangioblastomas
Von Hippel Lindau Disease
47, XXY
Klinefelter Syndrome
45, XO
Turner Syndrome
Most common sex chromosome abnormalities in females
Turner Syndrome
Paternal microdeletion of Chromosome 15
Prader-Willi Syndrome
Happy Puppet
Angelman Syndrome
Maternal microdeletion of chromosome 15
Angelman Syndrome
Facial nevus flammeus
Earlobe crease
Beckwith-Wiedemann Syndrome
Loss of normal peristalsis in the body of the esophagus and failure of the lower esophageal sphincter (LES) to relax in response to swallowing
Achalasia
Beaking on barium swallow
Achalasia
Nonbilous vomiting starts at 3rd week of life
Hypertrophic Pyloric Sphincter
Olive-shaped mass
Hypertrophic Pyloric Sphincter
Shoulder sign
Hypertrophic Pyloric Sphincter
Double Tract Sign
Hypertrophic Pyloric Sphincter
String Sign
Hypertrophic Pyloric Sphincter
Triad of Gastric Volvulus
Severe epigastric pain
Inability to pass tube into the stomach
Retching with emesis
Retching + Hematemesis
Mallory Weis Tear
Bird’s Beak Sign
Gastric Volvulus
Inverted U Sign
Gastric Volvulus
Coffee Bean Sign
Gastric Volvulus
Failure to RECANALIZE the lumen after the solid phase of the intestinal development during the 4th and 5th week AOG
Duodenal Atresia
BILIOUS VOMITING without abdominal distension usually noted on the 1st day of life
Duodenal Atresia
Double Bubble Sign
Duodenal Atresia
In duodenal atresia, obstruction usually at
Distal to the ampulla of vater
Soap Bubble Sign
Meconium Ileus
Egg Shell Pattern
Meconium Ileus
Ground Glass appearance in the RIGHT LOWER QUADRANT
Meconium Ileus
Most common congenital gastrointestinal anomaly
Meckels Diverticulum
Most common cause of lower GI bleeding in children
Meckels Diverticulum
Brick Colored Stool
Meckels Diverticulum
Most common cause of lower intestinal obstruction in the neonate
Hirschsprung Disease
Sausage Shaped Mass
Intussuseption
Absence of Meissner and Auerbach Plexus
Hirschsprung Disease
Currant Jelly Stool + Colicky Pain
Intussuseption
Pellet-Like Stool
Hirschsprung Disease
Ribbon-like stool
Hirschsprung Disease
Most common cause of INTESTINAL OBSTRUCTION between 3 months and 6 years of age
Intussuseption
Coiled Spring Appearance
Intussuseption
UTZ: Doughnut or Target Sign
Intussuseption
Prolonged elevated levels of conjugated bilirubin after 14th day of life
Neonatal Cholestasis
Neonatal infection resulting from inadequate care of the umbilical cord
Omphalitis
Most common surgical emergency in neonate
Necrotizing Enterocolitis
Most common site of Necrotizing Enterocolitis
Distal Ileum
Proximal Colon
Hemoglobin -> Biliverdin
Heme oxygnase
Metalloporphyrins
Biliverdin -> Bilirubin
Biliverdin reductase
Phenobarbital
Bilirubin-Albumin Complex -> Conjugated Bilirubin
Glucuronyl transferase
Conjugated bilirubin -> Urobilinogen
Beta-glucuronidase
Inherited form of non-hemolytic jaundice
Crigler-Najjar Syndrome
Autosomal recessive disorder that causes an increase of conjugated bilirubin without elevation of liver enzymes
Dubin-Johnson Syndrome
Most common hereditary cause of increased bilirubin
Gilbert-Meulengracht Syndrome
Autosomal recessive metabolic disorder affecting enzyme involved in bilirubin metabolism
Lucey-Driscoll Syndrome
Non-itching jaundice
Rotor Syndrome
Transplacental Infections:
CMV
Rubella
Listeria monocytogenes
Treponema pallidum
Predominant Pathogens in Early Onset of Sepsis
Staph. aureus Listeria monocytogenes Strep. agalactiae Pseudomonas aeruginosa E. Coli Kliebsiella pneumoniae
Capable of causing corneal perforation and blindness
Neisseria gonorrhea
Pseudomonas
Classic Triad of Toxoplasmosis
Chorioretinitis
Hydrocephalus
Intracranial calsification
Intracranial calsification
TB
Toxoplasmosis
Cisticercosis
Schistosomiasis
Pseudoparalysis of Parrot
Osteochondritis
Saddle nose vasculitis
Wegeners granulomatosis
Spoke like pattern
Rhagades
A zigzag scarring often in a dermatomal distribution
Cicatrix
Most common clinical manifestation of german measles
Sensorineural hearing loss
Blueberry Muffin Lesion
Congenital Rubella
Discrete rose-colored spot on soft palate found in congenital rubella
Forscheimer Spot (F Spot)
Heterophile NEGATIVE
Most common cause of congenital infection
CytoMegaloVirus
Striking enlarged epithelial
Mesenchymal cells with LARGE INTRANUCLEAR INCLUSIONS
CytoMegaloVirus
A vesicular rash that is present at birth or appear shortly thereafter
Herpes Simplex
Bullneck Appearance
Diphtheria
Pharyngeal PSEUDOMEMBRANE
Diphtheriae
haEMOPhilus influenza
Epiglotittis
Meningitis
Otitis
Pneumonia
Machine gun-like cough
Pertussis
Seal-like Cough
Croup
Reversible obstruction airway disease involving both the small and large airways
Bronchial Asthma
3 components of asthma attack
Bronchospasm
Airway obstruction
Mucus production
Common disease of the lower respiratory tract of infants
Bronchiolitis
Severe form of pediatric bronchiolitis
Bronchiolitis obliterans
Peasoup diarrhea and Rose spots maculopapular rash
Salmonella typhi
Enteric Fever
Upper airway infection but does not involve the epiglottis
Bacterial Tracheitis
Brassy Cough
Bacterial Tracheitis
Texas Star
Vibrio Cholera
Excessive methylmalonic acid in the urine
Vitamin B12 (Cobalamin) Deficiency
Most common hematologic disease of infancy & childhood
Iron Deficiency Anemia
Most common familial and congenital abnormality of the red cell membrane
Hereditary Spherocytosis
In hereditary spherocytosis, what is the cytoskeletal protein defects
SPECTRIN
Hamarthrosis
Factor VIII Deficiency
Disease of Royalty
Factor IX Deficiency
Most common hereditary bleeding disorder
Von Willebrand Disease
Factors affecting Vitamin K Deficiency
Factors II, VII, IX, X
Jaundice within first 24hrs
ABO Hemolytic Disease of the Newborn
Most common cause of hemolytic disease of the newborn
ABO Incompatibility
Increased erythrocyte adenosine deaminase
Diamond Blackfan Syndrome
Congenital Hypoplastic Bone Marrow
Diamond Blackfan Syndrome
Most common malignant neoplasm in childhood
Leukemias
Most common childhood malignancy
Acute Lymphoblastic Leukemia
Predominant neonatal / congenital leukemia
Acute Myelogenous Leukemia
Positive Myeloperoxidase
Acute Myelogenous Leukemia
Reed Stenberg Cells
Hodgkin Disease
Owls Eye Cell
Hodgkin Disease
Lacunar Cells
Hodgkin Disease
Most common type of Hodgkin Disease
Nodular Sclerosing
Most number of Reed Sternberg Cell
Mixed Cellularity
Worst Prognosis of Hodgkins Disease
Lymphocytic Depletion
Philadelphia Chromosomal Translocation
CML
Most common EXTRACRANIAL tumor of CHILDHOOD
Neuroblastoma
Most frequent diagnosed tumor in infants
Neuroblastoma
Will cross the midline
Neuroblastoma
Does not cross the midline of the abdomen
Willm’s Tumor
Most common EXTRACRANIAL tumor in ADULTS
Pheochromocytoma
Homer Wright Pseudorosette
Neuroblastoma
Salt and Pepper Chromatin
Neuroblastoma
Most common PRIMARY BONE TUMORS in CHILDREN
Osteosarcoma
Most common PRIMARY BONE TUMORS in ADULTS
Multiple Myeloma
Spindle-Cell Producing Osteoid
Osteosarcoma
Metaphysis of long bones
Osteosarcoma
Diaphysis of long bones
Ewing Sarcoma
Onion-Skinning
Ewing Sarcoma
Blue Cells
Ewing Sarcoma
Moth-Eaten Appearance
Ewing Sarcoma
Primary tumors arising from the Chest Wall of Ewing Sarcoma
Askin Tumors
Most common pediatric soft tissue tumor
Rhabdomyosarcoma
Most common SOFT TISSUE tumor in vaginal (grape-like mass) of pediatrics
Botyroid
Most common INTRA-OCULAR tumor in childhood
Retinoblastoma
Flexner-Wintersteiner Bodies/Rosettes
Retinoblastoma
Most common primary malignancy LIVER neoplasm in CHILDREN
Hepatoblastoma
Most common primary malignant LIVER neoplasm in ADULT
Hepatoma
Most common chronic glomerular disease WORLWIDE
IgA Nephropathy
Most common cause of gross hematuria in children
IgA Nephropathy
Most common hereditary nephritis
Alport’s Syndrome
Crescents and LUMPY BUMPY DEPOSITS
Acute PSGN
Most common of bacterial spontaneous PERITONITIS
Nephrotic Syndrome
Most common nephrosis in childhood
Idiopathic Nephrotic Syndrome
Nephroblastoma
Wilm’s Tumor
WAGR Syndrome
Wilm’s Tumor
Aniridia
Genitourinary anomalies
mental Retardation
Most severe form of neural tube defect
Meningocele
Fluctuant mass that transilluminates
Meningocele
Most severe form of dysraphism involving the VERTEBRAL COLUMN
Myelomeningocele
Failure of closure of the ANTERIOR (ROSTRAL) NEUROPORE
Anencephaly
Most common location is occipital but for Asians it is in the FRONTAL or NASOFRONTAL areas
Encephalocele
Most common cause of OBSTRUCTIVE or noncommunicating hydrocephalus
Aqueductal Stenosis
Most common cause of NON-OBSTRUCTIVE or communicating hydrocephalus
Obliteration of the SUBARACHNOID CISTERNS (subarachnoid hemorrhage)
Foreshortened Occiput
Chiari Malformation
Prominent Occiput
Dandy-Walker Malformation
Partial or Complete absence of the CEREBELLAR VERMIS
Dandy-Walker Malformation
Most common seizure disorder in childhood
Febrile Seizure
5 minutes of seizure without regain of consciousness
Status Epilepticus
Petit Mal and Blank Stare
Absence Seizures
Parinaud’s Syndrome
Pineal Tumors
Paralysis of upward gaze
Nystagmus (retraction or convergence)
Lid retractions
Neurofibromatosis 1
Von Recklinghausen Disease
Hallmark of neurofibromatosis 1
6 or more Café Au Lait Macules
Bilateral Acoustic Schwannoma (Aucostic Neuroma)
Neurofibromatosis 2
Spider Cell
Tuberous Sclerosis
Candle-Dripping
Tuberous Sclerosis
Serpentine or Railroad Tract Appearance
Sturge Weber
Most common chronic motor disability
Cerebral Palsy
Most common HEREDITARY NEUROMUSCULAR disorder in children
Duchenne Muscular Dystrophy
Gowers Sign
Duchenne Muscular Dystrophy
Xp21 Locus
Duchenne Muscular Dystrophy
Dystrophin Gene
Duchenne Muscular Dystrophy
Prominent forhead Bitemporal hollowing Anteverted nostrils Prominent upper lip Micrognathia
Miller-Dieker Syndrome
Milk Maid’s Grip
Darting or Parting Tongue
Sydenham Chorea
Motor and Vocal Tic
Snorting
Coprolalia
Gilles de la Tourette Syndrome
Emaciation
Marasmus
Shrunken and wizened face
Marasmus
Hair is sparse and thin
Kwashirkor
Cause of Edematous PEM
Aflatoxin poisoning
Autosomal recessive metabolic disorder affecting the uptake of zinc
Acrodermatitis enteropathica
“Brandt Syndrome” / “Dandbolt-Cross Syndrome
Acrodermatitis enteropathica
Scorbutic Rosary
Scurvy
DISTAL ENDS OF LONG BONES with a ground glass appearance
Scurvy
Corkscrew Hair
Scurvy
Disease of growing bones which occurs in children only BEFORE FUSION OF THE EPIPHYSES
Rickets
Rachitic Rosary
Rickets
Harison’s Groove
Rickets
Windswept Deformity
Rickets
1 leg valgus other leg varus
Most commonest respiratory problem of a premature infant
Hyaline Membrane Disease
Most common cyanotic heart disease surviving infancy
Tetralogy of Fallot
Blalock-Taussing Shunt
Tetralogy of Fallot
Pulmonary arteries arise from aorta
Truncus Arteriosus
Rostelli Repair
Truncus Arteriosus
Second most common cause is IDIOPATHIC
Primary Pulmonary Hypertension
Black Lung
Primary Pulmonary Hypertension
Coarse streaking granular pattern in both lung field
Primary Pulmonary Hypertension
Rib Notching
Coarctation of the Aorta
Most common in children / young adults between 5-15 years old
Rheumatic Fever
EGG on its side
EGG on a string
Transposition of Great Vessels
Box Shaped Heart
Ebstein’s Anomaly
Brock’s Procedure
Pulmonary Stenosis
Casal’s Necklace
Pellagra
dermatitis encircling the neck
Premature closure of skull sutures
Craniosyntosis
Arylsulfatase A Deficiency
Metachromatic Leukodystrophy (MLD)
