Neurology

Question 1

Infantile Spasms

Answer 1

90% will present within the first year. Developmental delay is common, and the EEG pattern is hypsarythmia.
Treatment:
Vigabatrin (retinal toxicity) or
ACTH (irritability, central adrenal axis suppression).

Question 2

Sandifer Syndrome

Answer 2

Abnormal movements (associated stiffening) that is also occurring with GERD.

Question 3

Benign Myoclonus of Infancy/Shutter Attacks

Answer 3

These are sudden brief, symmetrical axial flexor spasms of trunk and head the are “vibratory”. They may be provoked by a certain emotional response. Usually will remit by about 5 years of age.

Question 4

Breath Holding Spells

Answer 4

Present around 6-18 months of age.
There are two types:
Cyanotic: apnea and cyanosis
Pallid: limpness, diaphoresis and pallor after an injury.

Commonly associated with iron deficiency anemia.

100% will resolve by 8 years of age.
You should try to intervene prior to the tantrum and the event happening.

Question 5

Infantile Masturbation

Answer 5

Will often start within the first year of life. It is more common in girls. There is usually an autonomic phenomenon that is associated.
Should resolve by about3-5 years of age.
The only time you intervene and discuss with the child is if it is happening in public places.

Question 6

Childhood Absence Seizures

Answer 6

Peak around 6-7 years; 70% will remit by the time they are adolescents. They do have an increased risk of having GTC (40%).
Treatment: Ethosux (VPA, Lamotrigine).

Question 7

Benign Rolandic Epilepsy

Answer 7

4-10 years is classic onset
Nocturnal focal seizures of face lating 1-2 minutes wtih no loss of consciouness. 
They usually only occur at night. 
Most will be outgrown in puberty. 
Do not require treatment.

Question 8

Anti-epileptic Drugs <2 years of age

Answer 8

Phenobarbital

Don’t use VPA (increased risk of toxicity); carbamazepine (poor absorption)

Question 9

> 2 years of age

Answer 9

Valporate is never wrong UNLESS metabolic disease, teenage girls and know there are many side effects. 
Focal: Keppra or Carbamazepine
General:
Absence (ethosuximide)
Keppra
Lamotragine

Question 10

Absence or myoclonic seizures

Answer 10

Do not use carbamazepine

Question 11

Only proven prophylaxis in pediatric migraine

Answer 11

Flunarizine

Question 12

SMA

Answer 12

0-IV
Disease of the anterior horn cell (motor neuron)
proximal weakness, hypotonia and areflexia

Question 13

Mytonic Dystrophy:

What are the common characteristic comorbidities

Answer 13

Type 1 DM - have to monitor the HgA1C
Hypogammaglobulinemia
Cataracts

Question 14

Mytonic Dystropy: Testing and Inheritance

Answer 14

AD

Genetic testing for CTG repeat on DMPK gene

Question 15

4 Causes of Acute Ataxia

Answer 15

Infectious - CNS
Tumor
Medications - Acute Dystonic Reaction (Risperidone)
labrynthitis

Question 16

Ataxia Telangectasia

Answer 16

Autosomal Recessive.
Humoral and Adaptive Immune system affected
At risk for lymphoma and leukemia
Mutation in DNA repair gene, therefore, need to limit exposure to radiation.
Characteristics: Immune deficiency, pulmonary progressive disease, multiple telangectasia and progressive ataxia

Question 17

Friedrich’s Ataxia

Answer 17

Autosomal Recessive; the most common hereditary ataxia.
Onset it late adolescent (later than ataxia telangectasia) and is also progressive.
Motor weakness with eventual loss of your dtr
High arched feet, hammer toes, kyphoscoliosis and hypertrophic cardiomegally

Question 18

Tuberous Scerlosis

Answer 18

Genetic Testing: and CT and MRI for diagnosis
Hypopigmented macules, shagreen patch - Skin
CNS: Tubers, epilespsy, developmental delay
Heart and Kidney- Rhabdomyomas
Lung: Lymphang changes
Face: Facial agiomas (Adenoma sebaceum) treatment with sirolimus
Harmatroms and Ungal fibromas

Question 19

5 Causes of acute post infectious ataxia

Answer 19

HSV
EBV
CMV
Varicella
Other GI bugs

Question 20

Complications of sturge weber

Answer 20

Glaucoma
Leptomengieal enhancements
Seizures 
DIC 
Intellectual disability

Question 21

5 Reasons to Head Image with Headache

Answer 21

Headache with focal signs
Waking up in middle of night 
Waking up in the morning with vomiting
Progressing nature of headache
Changing type of headache from normal 
Worsening with cough or valsava maneuver

Question 22

Mobius Syndrome

Answer 22

Congenital Absence of the facial nerve

Question 23

5 Features of a Basilar Migraine (similar to brainstem problem)

Answer 23

Vertigo
Dysarthria
Nystagmus
Ataxia
Papilledema

Question 24

Sacral Dimple guidelines

Answer 24

Greater than 2.5 cm above rectum
Any abnormalities surrounding it
Off of the center of sacrum