Pediatric Neurology Exam 2016

Front 1

Which gene is now considered as the most common cause of congenital myopathy?

Back 1

RYR1

Front 2

describe the tissue?

diagnosis?

Inheritance modes:

Back 2

Muscle in H&E stain. couple of cells with central nucleus.

Centronuclear myopathy

X-linked=myotubulin mutations (MTM1)

AD: Dynamin (DNM2)

AR: Amphiphysin (BIN1)

Front 3

describe?

distinguish which particles?

Back 3

Gommori-trichome stain.

Best illustration of connective tissue

Visualization of Nemaline Rods

Front 4

describe?

diagnosis?

stain?

Back 4

Group atrophy, large muscle fibers are hypertrophied. Only one type (I) of muscle fibers.

SMA

Lt - VvG stain, Rt. H&E stain

Front 5

describe

diagnosis

Back 5

Duchenne muscular dystrophy.

H&E stain

Front 6

which stain?

Properties of the stain?

pahological findings?

diagnosis?

Back 6

NADH stain - Nicotinamide adenine dinucleotide tetrazolium reductase (NADH) stain

Differentiate type I from type II fibers because type I fibers are more aerobic users (more NADH).

The holes in the muscle cell is the "core" area devoted from mitochondria. Only stains that reflect the oxidative state illustrate the cores

Front 7

diagnosis?

features?

Back 7

Central core disease

Gene: 90% due to AD de-novo mutations in RYR1

Pt. are at risk for malignant hyperthermia (like all cong. myopathies)

Front 8

Stain?

diagnosis?

describe?

Back 8

ATP stain in 4.3 pH. Uses to differentiate fiber types and blood vessels. lower pH differentiate better immature fibers

Multi-mini core disease, the fibers looks like moth-eaten

Front 9

SEPN1 - which disease it causes?

Back 9

AR multimini core

cong. muscular distrophy: rigid spine, early scoliosis and respiratory impairment

Front 10

describe?

diagnosis?

clinical features?

Back 10

Rods in Nemaline myopathy, Gommori trichome stain.

Progressive weakness involving face, neck and limbs. delay in attaining motor milestones.

Front 11

What is the prognosis of the most common types of Menaline myopathy?

Back 11

Typical congenital type is the most common form. Manifests w weakness and feeding problems but no respiratory compermize. Pt. walks independently but late, might become wheelchair bounded as teenagers

Front 12

Muscular dystrophy: severe v/s mild disease

Back 12

Severe: Duchenne; Sarcoglycanopathy (LGMD 2C, 2D, 2E, 2F); LGMD 2A (Some patients)

Mild: Becker; LGMD 1G, 2A, 2B, 2G

Front 13

DD for external nuclear ophtalmoplegia w/w.o ptosis in neuronuscular diseases:

Back 13

Neuromuscular junction:Myasthenia Gravis. Botulism

Muscle: Thyroid

Mitochondrial: Kearns-Sayre

Progressive External Ophthalmoplegia

MNGIE

Congenital Myopathy: Centronuclear Myopathy: InfantileMulticoreHereditary myopathiesOculopharyngeal Muscular DystrophyOculopharyngodistal myopathyInclusion body myopathy with joint contractures & ophthalmoplegiaEarly-onset myopathy with external ophthalmoplegiaCongenital & hereditary ophthalmoplegias

Front 14

The most common MD

describe the pathological findings

Back 14

Duchenne MD

1. loss of variability of fibers

2. necrosis

3. fibrosis

4. fatty infiltrate

Front 15

Symptomathic carriers in Duchenne?

Back 15

Only 10%' but can be more if checking various muscles. Symptomatic carrier has high levels of CPK and typical biopsy.

5- 48% of them have silent cardiomyopathy

Front 16

Atypical presentation of Baker?

Back 16

Mild weakness, hypertrophy of calves'

myalgia, muscle cramps and even myoglobinuria.

Dilated CMP - exist

Front 17

match one disease to each pattern

Back 17

1. Duchenne/Baker MD with calves HT

2. Distal MD (pelvic girdle is not affected) - Emery Dreifuss

3. Congenital MD - walker-warburg

4. LMGD - calpainopathy

5. Fascio-scapulo humeral disease (bulbar, scapula stabilizers, dorsi-flexion of foot)

6. oculo-pharyngeal MD- age at onset~50y

Front 18

where Lamin a/c is located?

what is the function of dysferlin?

what is the function of Calpain 3?

Back 18

1. Nucleus membrane

2. Keeping the sarcolemma's integrity

3. control and modulate apoptosis pathway

Front 19

disease?

genetic?

why female members in the pt. family should be assessed?

Back 19

Emery Dreifuss

95% x-linked due to mutation in Emerin

female carriers suffer from cardiomyopathy or arrhythmia

Front 20

The triad of symptoms in Emery Dreifuss?

Back 20

1. Contructures (before weakness)

2. Humero-peroneal weakness (mild)

3. Cardiopmypathy and arrhythmia

Front 21

Sarcoglycanopahy with preserved ambulation is?

Sarcoglycanopathy with mild SNHL?

Back 21

1. Alpha sarcogl. (the most common)

2. Gamma sarcog. (severe lordosis)

Front 22

Identify the weak kids..

All had recurrent cellulitis as infants, neutropenia and motor developmental delay.

CPK levels were normal.

Back 22

Barth's syndrome.

Front 23

In which MD the weakness is a-symetric?

In which MD pt. sleep with open eyes?

Back 23

1. Fascio-scapulo-humoral

2. Fascio-scapulo-humoral and oculo-pharyngeal

Front 24

myoglobulinuria - what are the features differentiate between glycolytic defects v/s fatty acid oxidation defect?

Back 24

Glycolytic: triggered by exercise: lifting , climbing stairs.

Age of onset in the 2nd decay in previously healthy children

CPK is elevated between attacks

F.A: triggered by infections, younger children

medical hx. positive for developmental delay

CPK normal between attacks

Front 25

Glycogen storage disease VIII:

enzyme

describe the features of the muscular disease

Back 25

Phosphorylase kinase B

X-linked exercise intolerance starts in childhood, develop cramps, weakness and myoglobulinuria

Front 26

Glycogen storage disease which involves alpha motor neurons, the tongue is huge with faciculations?

Back 26

Acid maltase deficiency

Front 27

describe;

which stain is helpful in identifying the material in the cells?

Back 27

Acid maltase deficiency; in all 3 diseases the biopsy shows vacuolar myopathy, most prominently stained in PAS

Front 28

You are called to NICU for a 4 hours baby, born at term following a pregnancy positive for polyhydroamnion and decreased fetal movements.

Apgar 8,9. Mother suffers from hypothyroidism.

Currently: hypotonic, requires nasal c-PAP to keep oxygen saturations, droopy eyes and weak sucking.

suggest DD and work/up

Back 28

central: HIE / cerebral insult - no

CNS malformation - post. fossa

chromosomal: prader willi, down syn, angelman

infection

Peripheral: alpha motor neuron - not typical with facial involvement

neuropathy: hereditary motor neuropathies

myasthenia- transient or congenital

congenital muscular dystrophy

congenital myopathies

Front 29

newborn with hypotonia, poor feeding, joint laxity and bilateral pes-cavus. from the congenital muscular dystrophies- which group is probable?

Back 29

defect in collagen VI

Front 30

In which congenital muscular dystrophy the heart is involved and can be the presenting symptom?

Back 30

LMNA (laminin a/c) deficiency (also named Merosin def.): pt. can presents with arrhythmia and dilated CMP

Front 31

In which congenital muscular dystrophy the CPK level is usually normal?

Back 31

SEPN1 related MD

Collagen VI

Front 32

nocturnal respiratory failure is characteristic in children with which congenital mypopathy ?

Back 32

Ulrich CMD (Collagen VI)

Merosin deficiency (MCT1A)

SEPN1 (rigid spine)

Front 33

born with hypotonia and muscle weakness,

knee and elbows contractures developed by 2-4 years of age, f/u for dilated CMP.

normal intelligence

Back 33

Merosin deficient CMD - may develop seizures,

might need respiratory support by 8-15 years

on MRI - T2 htperintensity around the ventricles

Front 34

hypotonia and weakness at birth, never walked. scolioisis started by 3 y.

rash on extensor areas

Normal MRI

Back 34

Ullrich CMD

Front 35

I was born in Georgia in 1965. When I started elementary school, my parents and others noticed that I was walking on my toes and had very limited strength and stamina. My brother who is 2 years younger also showed the same signs.

Normal intelligence, playing piano.

Had X2 elongations of heel cord

Back 35

Bethlehem CMD

Front 36

True/false

1. One can differentiate CMD from congenital myopathy according to clinical features at birth

2. Children with Ullrich CMD develop contractures by age 1-2 yO

3. Hypotonia and poor feeding which requires support in the first weeks of life is typical in central core myopathy

4. Facial weakness in cong. myopathies involves mainly eyes and eye-lids in cong. myopathies

5. Extra-ocular muscles involvement is typical in centro-nuclear myopahth

6. Cognitive impairment is a common finding in Nemaline myopathy

Back 36

1. false, either through f/u (cong. myopathies remain stable)

2. True, and early scoliosis

3. false - typical in Nemaline

4. fales- lower part of face

5. true

6. False- in disproportionate muscle fibers

Front 37

CPK in cong. myopathies is X5 times elevated

Back 37

False- normal or slightly elevated

Front 38

List the common genes in Nemaline myopathy

Back 38

50%: Nebulin

25% actin A1

Front 39

True/false re. Nemaline myopathy

1. Orthopedic complications from birth are typical in all cong. myopathies

2. All proteins involve in Nemaline myopathy are related to the thin filaments in the sarcomere

3. Extra ocular muscles and ptosis are the hall mark of facial involvement in Nemaline

4. Morbidity in the 2nd decade is related to orthopedic issues and respiratory problems

5. In all types, life expectancy is up to 2-3 decade

Back 39

1. False- typical to Nemaline

2. True

3. False- usually sparing of the eye area, but pharyngeal and facial muscles are affected

4. True

5. false- in the earliest and congenital forms life expectancy is in months.

Front 40

exercise induced myalgia and cramps is typical to which myopathy?

Back 40

Central core (RYR1 related)

Front 41

Male newborn with bilateral hip dislocation, hypotonia, bilateral ptosis and respiratory difficulties. Muscle biopsy shows type 1 predominance with rows of internal nuclei.

suggested diagnosis?

DD?

Back 41

Myotonic dystrophy 1 and Centro-nuclear myopathy share same clinical and histological features.

Front 42

maternal complications in beta-oxidation defects

Back 42

Mothers of babies w LCHAD/Trifunctional are prone to HELLP or fatty liver during the pregnancy

Front 43

In which carnitine transporter defect cardiomyopathy is the main feature?

Back 43

OCNT2

Front 44

Multiple acyl-CoA dehydrogenase = MADD:

1. other name?

2. biochemical defect?

3. clinical subtypes?

Back 44

Glutaric aciduria type II

Defect in electron-transfer flavoproteins (the carriers of electrons into the ox-phos system)

Clinical:

1. Neonatal presentation of hypoglycemia (usually prematures) w various cong. defects

2. Neonatal presentation w/o cong. defects

3. late onset mild disease

Front 45

Neonatal severe MADD:

describe 4 clinical clues

Back 45

1. Hypoglycemia in premature+ metabolic acidosis

2. sweat feet

3. large kidneys with cysts, facial dysmorphism

4. gastrochisis

Front 46

female carriers of DMD - describe risks:

Back 46

1. Mild muscle weakness

2. cardiomyopathy

3. calf hypertrophy

4. elevated CPK

Front 47

Narcolepsy - describe 4 + criteria

Back 47

1. Daytime sleepiness

2. Hypnagogic hallucinations

3. Sleep-onset paralysis

4. Fragmented night sleep

+ : cataplexy in 80% of Pt. (sudden loss of skeletal muscle tone in response to emotional triggers like laughter, fright, or surprise

Front 48

DD for excessive daytime sleepness

Back 48

1. narcolepsy

2. Myotonic dystrophy

3. Prader willi

Front 49

Klein-Levin syndrome: describe 4 clinical features

Back 49

1. attacks of excessive sleep: 18 hours/day lasting 1-2 weeks, accompanied by :

2. compulsive hyperphagia

3. hypersexsual behaviour

4. intervals of 2–4 months of normal alertness and behavior

Front 50

DD for len's dislocation

Back 50

Homocystenuria

Marphan

MoCo def.

Sulphite oxidase