Jeopardy 3- Neuro Heme Onc Flashcards
Central Hypotonia involves
UMNs and the cortical pyramidal neurons/corticospinal tract
Peripheral hypotonia involves
LMNs and Spinal Motor Neurons
Symptoms of central hypotonia
Altered mental status, increased DTRs and clonus
Symptoms of peripheral hypotonia
Decreased muscle bulk and DTRs
Hypotonia + weakness + tongue fasciculations
Spinal Muscular Atrophy
2nd most common hereditary neuromuscular disorder
SMA
Area affected by SMA
Anterior Horn Cell Degeneration
Type of SMA occurring before 6 months
Werding-Hoffman Disease
Inheritance of SMA
AR, SMN1 gene on Chromosome 5
Function of Botulinum Toxin
Prevents presynaptic release of ACh
Botulism symptoms occur when after ingestion
12-48 hrs
FIRST SYMPTOM of Botulism
Constipation
Symmetric and descending paralysis
Botulism
EMG of botulism shows
Small amplitude potentials + incremental response during high frequency stimulation
Treatment of botulism
Botulism Immune Globulin
Genetics of Congenital Myotonic Dystrophy
AD trinucleotide repeat on Chromosome 19
Bilateral weakness + Hypotonia + Areflexia + Arthrogryposis (joint contractures)
Congenital Myotonic Dystrophy
Adults w/ Congenital Myotonic Dystrophy have what complications
Mental Retardation + Cataracts + Arrhythmias + Infertility
Enlarged ventricles caused by obstruction
Noncommunicating Hydrocephalus
Enlarged ventricles caused by decreased absorption
Communicating Hydrocephalus
Type of hydrocephalus seen w/ meningitis
Communicating
Ventricular enlargement 2/2 brain atrophy
Hydrocephalus ex Vacuo
Downward displacement of the Cerebellum and Medulla through the foramen magnum
Chiari Type II Malformation
Chiari Type II malformations are associated w/
Lumbosacral myelomeningocele
Absent/Hypoplastic Cerebellar Vermis –> cystic enlargement of the 4th Ventricle –> blocks CSF
Dandy-Walker Malformation
Inheritance of Congenital Aqueductal Stenosis
X-linked Recessive
MOST COMMON cause of hydrocephalus in preterm infants
Intraventricular Hemorrhage
Sunset Sign (downward deviation of both eyes) is caused by
Hydrocephalus (enlargement of 3rd Ventricle)
Failure of bone fusion of the vertebral column
Spina Bifida
Herniation of the spinal cord tissue and meninges through bony cleft
Myelomeningocele
Herniation of only meninges through bony cleft
Meningocele
Teratogens that cause Spina Bifida
Valproate, Phenytoin, Colchicine, Vincristine, Azathioprine, MTX
Lumbosacral myelomeningoceles (90%) are associated w/
Chiari Type II Malformation
Accumulation of fluid within the spinal cord
Cervical Hydrosyringomyelia
Serum protein elevated w/ spinal defects
Alpha-Fetoprotein
MOST SENSITIVE test for diagnosing spinal defects
Fetal Sonogram
MOST COMMON causes of coma in younger than 5
Non-accidental trauma and near-drowning
MOST COMMON cause of coma in older children
Drug OD and Accidental Head Injury
CSF or blood draining from the nose or auditory canal
Basilar Skull Fracture
Decerabrate posturing is seen w/
sub-cortical injury
Decorticate posturing is seen w/
Bilateral cortical injury
Cheyne-Stokes breathing is associated w/
Bilateral cortical injury
Apneustic breathing (pausing at inspiration) is seen w/
Pontine damage
Uncal herniation has what physical sign
Unilateral dilated non-reactive pupil
Normal caloric response
Eye deviation to the irrigated side
Criteria for epilepsy
> 2 spontaneous unprovoked seizures
Time for status epilepticus
> 30 mins
% who have an afebrile seizure before 16
4-6%
Incidence of epilepsy
.5-.8%
MOST COMMON type of generalized seizure
Tonic-Clonic
Treatment of status epilepticus
IV Diazepam/Lorazepam… repeat… Phenobarbital or Phenytoin
Best treatment for generalized epilepsy
Valproate or Phenobarbital
Best treatment for absence epilspsy
Ethosuximide
Best treatment for partial epilepsy
Carbamazepine or phenytoin
COMMON SIDE EFFECT of vagal nerve stimulators
Hoarseness
% Children who have febrile seizures
3%
What makes a febrile seizure complicated
Focal signs, recurs within 24hrs, >15 mins
Percent of patients w/ febrile seizures who have a recurrence
30%
MOST COMMON cause of Infantile Spasm (West Syndrome)
Tuberous Sclerosis
Brief myoclonic jerks (arm extension, head/trunk flexion) lasting 1-2seconds which occur 5-10 x over about 3minutes
Infantile Spasm (West Syndrome)
Age range for Infantile Spasm (West Syndrome)
3-8 months
EEG of Hypsarrhythmia
Infantile Spasm (West Syndrome)
Tx of infantile spasm
ACTH, Valproate or Vigabatrin
Best treatment for Infantile Spasm 2/2 Tuberous Scleosis
Vigabatrin
Inheritance of Absence Epilepsy
AD
EEG of 3-Hz Spike and Wave Discharges
Absence Epilepsy
MOST COMMON partial epilepsy of childhood
Benign Rolandic Epilepsy (Benign Centrotemporal Epilepsy)
Inheritance of Benign Rolandic Epilepsy (Benign Centrotemporal Epilepsy)
AD
Early morning oral-buccal seizures (moan, grunt, saliva) –> generalize to Tonic Clonic
Benign Rolandic Epilepsy (Benign Centrotemporal Epilepsy)
First line drug for Benign Rolandic Epilepsy (Benign Centrotemporal Epilepsy)
Valproic Acid
MOST COMMON cause of HA in children
Migraine
Path of Migraines
Changes to cerebral blood flow
MOST COMMON form of migraine in children
Migraine without aura
Ptosis/ CN III palsy w/ HA
Ophthalmoplegic Migraine
Vertigo, tinnitus, ataxia or dysarthria prior to HA
Basilar Artery Migraine
Migraine prophylactic drug of choice
Propranolol
MOST COMMON cause of ataxia in children
Acute Cerebellar Ataxia
Common infections –> acute cerebellar ataxia
Varicella, influenza, EBV and mycoplasma
Ascending weakness + areflexia + normal sensation
Guillain Barré Syndrome
MOST COMMON cause of Guillain Barré
Campylobacter Jejuni
Path of Guillain Barré
Demyelniation of ventral spinal roots and peripheral nerves via cell mediated response to infection
Ophthalmoplegia + Ataxia + Areflexia
Miller-Fischer Syndrome
LP in Guillain Barré shows
Albuminocytologic Dissociation (increased protein, norm cell count)
Unable to maintain protrusion of tongue (Charmeleon Sign) and unable to maintain grip (Milkmaid’s Grip)
Sydenham Chorea
Treatment of Sydenham Chorea
Haloperidol, Valproic Acid or Phenobarbital
Tics occur in
3% children
Incidence of Tourretes
1/1000
Corprolalia occurs in what % of Tourretes
15%
Tx of Tourretes
Pimozide, Clonidine, Haldoperidol (risk Tardive Dyskinesia)
DMD and BMD are
X-linked deletion in Dystrophin Genes
First sign of DMD/BMD
Weakness of the legs
Cause of pseydohypertrophy of calves
lipids replacing degenerating muscle
Cause of death in DMD
respiratory failure in teens
Path of Myasthenia Gravis
Antibodies against ACh receptors at NMJ
Bilateral ptosis + weakness at end of day + diplopia
MG
Diagnosis of MG
Tensilon Test (IV Edrophonium –> transient improvement of ptosis)
AChR Antibody Titers
Surgery done in pts w/ MG
Thymectomy
Treatment of MG
Pyridostigmine
HgB nadir occurs at
2-3 months (1-2 in preterm)
Fetal Hg disappears by
6-9 months
MOST COMMON blood disease during childhood
Iron Deficiency Anemia
Spoon shaped nails are seen w/
Iron Deficiency Anemia
Iron Deficiency lab findings
Low Iron, Ferritin and %Sat; High Transferrin and Erythrocyte protoporphyrin
Substance given w/ iron to increase intestinal absorption
Vitamin C
Disease seen w/ Southwest Asians
Alpha thal
Hgb Bart is seen w/
Hemoglobin H Disease (3 alpha globins gone)
Beta Thal is seen in
Mediterraneans
Microcytosis, Target Cells and Poikilocytes
Beta Thal
Complication of Beta Thal
Hemochromatosis (increased iron from intestines and from transfusions)
Cause of sideroblastic anemia
Iron in mitochondria of RBC precursors
Drugs that cause Sideroblastic Anemia
Isoniazid, Alcohol, Lead Poisoning, Chloramphenicol
Macrocytic =
MCV > 95
B12 is absorbed at the
Terminal Ileum after binding w/ Intrinsic Factor from the Parietal Cells
Smooth Red Tongue + Ataxia + Hyporeflexia + Babinski
B12 Deficiency
MOST COMMON inherited abnormality of RBC membrane
Hereditary Spherocytosis
Genetics of Hereditary Spherocytosis
AD mutation in Spectrin
Clinical Sx of Hereditary Spherocytosis
Pallor, weakness, pigmented gallstones and aplastic crisis
Diagnostic Test for Hereditary Spherocytosis
Osmotic Fragility Test and Abnormal RBC Fragility
Genetics of Hereditary Elliptocytosis
AD mutation in Spectrin
Inheritance of Pyruvate Kinase Deficiency
AR
Polychromic RBCs suggest
Pyruvate Kinase Deficiency
MOST COMMON RBC enzymatic defect
Glucose-6-Phosphate Dehydrogenase Deficiency
Bite Cells and Heinz Bodies
G6PD
Drugs that can trigger hemolysis in G6PD
Salicylates, Sulfa an Anti-Malarials
Diagnostic test for Autoimmune Hemolytic Anemias
Direct Coombs Test Positive
Condition that can cause hemolytic disease in first child
ABO Hemolytic Disease
Incidence of SS Disease
1/800 (8% have trait)
Path of SS
Valine –> Glutamic Acid at #6 of B-globin chain
MOST COMMON crisis in SS
Painful Bone Crisis
Leading cause of death in SS patients
INFECTION (sepsis or meningitis)
Function of Hydroxyuria in SS
Increases Hgb F
Vaccines to give in SS
23-Valent Polysaccharide Pneumococcal at 2yrs and Meningococcal
Evaluation of stroke in SS
Begin at 2yrs w/ serial transcranial doppler or MRA
3 Types of Childhood Red Blood Cell Aplasias
1) Diamond Blackfan Anemia
2) Transient Erythroblastopenia of Childhood (TEC)
3) Parvovirus B19
Anemia + cranial/facial anomalies + cardiac and renal anomalies + short stature + triphalangeal thumbs
Diamond Blackfan Anemia
Pancytopenia + Short Stature + Absence or hypo plastic thumb + skin hyper pigmentation + renal problems
Fanconi Anemia
Inheritance pattern of Fanconi Anemia
AR
Drugs that can cause aplastic anemia
Sulfonamides, AEDs, Chloramphenicol
MOST COMMON cause of polycythemia in childhood
Congenital Heart Disease
Hemophilia A is a deficiency in
Factor VIII
Inheritance of Hemophilia A
XL
Treatment of Hemophilia A
DDAVP (Desmopressin Acetate)
MOST COMMON hereditary bleeding disorder
VWD
Assay for VWF activity
Ristocetin Cofactor assay
Vitamin K dependent factors
1972 (10, 9, 7, 2, Protein C and S)
Disease causing large hemangiomas
Kasabach-Merritt Syndrome
Path of HSP
IgA mediated vasculitis
Symptoms of HSP
Palpable purpura, renal issues, abdominal pain and arthritis
Inheritance of Hereditary Hemorrhagic Telangiectasia
AD
Small Platelets, thrombocytopenia, eczema and defects in T and B cells
Wiskott-Aldrich Syndrome
Inheritance of Wiskott Aldrich Syndrome
XL
AR disease w/ thrombocytopenia + absent radius + cardiac/renal problems
Thrombocytopenia-Absent Radius Syndrome
MOST COMMON acquired platelet abnormality in childhood
Immune Thrombocytopenic Purpura
Cause of ITP
Cross reaction 1-4 wks after Viral Infection where antibodies target platelets
Treatment of ITP
IVIG
Cause of Passive Autoimmune Thrombocytopenia
Mom with ITP and antibodies to platelets cross placenta
Cause of Isoimmune Thrombocytopenia
Mom makes antibodies to baby’s platelets
AR disease of GIIb/IIIa on platelet membrane
Glanzmann’s Thrombasthenia
AR disease of GPIb on platelet
Bernard-Soulier Syndrome
MOST POTENT anticoagulant
Protein C
Shock + fever + skin bleeding + intravascular thrombosis
Purpura Fulminans (presentation of Protein C def)
MOST COMMON cause of neutropenia
Infection
AR severe agranulocytosis w/ infections beginning in infancy
Kostmann Syndrome
Albinism + Blue-Gray Granules + Neutropenia + Silver Hair
Chediak-Higashi
Pancreatic Insufficiency + Short Stature + Metaphyseal chondrodysplasia + neutropenia
Schwachman-Diamond Syndrome
Leading cause of death from disease in kids
Cancer
MOST COMMON childhood cancer
Acute Lymphocytic Leukemia
Wiscott Aldrich predisposes to
Lymphoma and Leukemia
Leukocoria is associated w/
Retinoblastoma
Anemia + Thrombocytopenia + WBC changes (norm, high or low)
ALL
Factors making for a favorable ALL prognosis
Female, 1-9, CALLA+, no t(9,22)
Induction tx for ALL is
Intrathecal MTX
Causes of neutropenic fever
Staph aureus, Staph epidermidis, Pseudomonas, E. coli
Cancer associated w/ Down Syndrome
Acute Myelogenous Leukemia (specifically M7- megakaryocytic)
Fever + HSM + gingival hypertrophy and bone pain
AML
Leukemic Myeloblasts and Auer Rods
AML
Cancer associated w/ t(9,22)
CML (Philadelphia Chromosome- BCR/ABL)
Fever + eczema-like facial rash + petechiae + lymphadenopathy
Juvenile Chronic Myelogenous Leukemia
Cancer of APCs
Hodgkin Disease
Infection associated w/ Hodgkin
EBV
Reed-Sternberg Cell
Hodgkin Lymphoma
Complications of treatment of Hodgkin Lymphoma
Growth retardation, secondary malignancy, hypothyroidism and male sterility
MOST COMMON presenting symptom of Non-Hodgkin Lymphoma
Painless Lymphadenopathy
Cancer presenting as an anterior mediastinal mass and possible SVC syndrome
Lymphoblastic Lymphoma
What condition must be considered w/ intussusecption
Lymphoma
Jaw Mass in an African
Burkitt Lymphoma
MOST COMMON solid tumor of childhood
Brain Cancer
MOST COMMON type of brain cancer in kids
Glial Cell Tumors
Most common location of brain tumors
Infratentorial
MOST COMMON infratentorial tumor
Medulloblastoma
MOST COMMON supratentorial tumor
Astrocytoma
CSF findings for medulloblastoma
Homovanillic Acid, (HVA) VMA and Polyamines
Brain cancer w/ poorest prognosis
Brainstem Glioma
Urine VMA, HVA and catecholamines
Neuroblastoma
MOST COMMON childhood renal tumor
Wilms Tumor
Genetic Conditions associated w/ Wilms Tumor
Beckwith-Wiedemann Syndrome (hemihypertrophy, macroglossia, visceromegaly), deletion of q11 and WAGR Syndrome (Wilms + Aniridia +GU problems + Retardation)
Tumor that does not cross abdominal midline
Wilms
% Wilms tumors that are bilateral
5%
MOST COMMON site of rhabdomyosarcoma
Head and Neck
MOST COMMON bone tumor
Osteosarcoma
Site of Osteosarcoma
Metaphysis of long bones
Site of Ewings
Flat bones and diaphysis
Systemic symptoms are more common with which bone tumor
Ewings
Sunburst Pattern
Osteosarcome
Onion skin appearance and periosteal retractions
Ewings
Translocation w/ Ewings
11 and 21
Hepatoblastoma is associated w/
Beckwith-Widemann Syndrome
Bony skull lesions + chronic draining ears + seborrheic dermatitis + pituitary involvement
Langerhans Cell Histiocytosis
Neurofibromatosis II
Acoustic Neuroma
Neurofibromatosis I
Brain tumors, lymphoma, leukemia and schwannoma
Beckwith-Wiedemann Syndrome
Wilms, Hepatoblastoma, Rhabdomyosarcoma, Adrenal
Bloom Syndrome
Leukemia/Lymphoma and GI tumors
Ataxia Telangiectasia
Hodgkin and non-Hodgkin
Fanconi Anemia
Leukemia
Klinefelter
Leukemia, Germ Cell and Breast
Trisomy 18
Wilms and neurogenic tumors
Trisomy 13
Leukemia and teratoma
Turner
Gonadoblastoma
Downs
ALL or AML
Prolonged PTT only
Factor VIII, IX deficiency,
Prolonged PTT and Bleeding Time
VWF
Prolonged bleeding time only
Platelet dysfunction OR thrombocytopenia
Prolonged PT and PTT
Vitamin K Deficiency
Prolonged PT, PTT and Bleeding Time
DIC
