Neuro

Question 1

Hypotonia

Answer 1

“Floppy”

Definition: Simply defined as lower than normal resistance to passive motion across a joint
*Abnormal posture is also suggestive

Question 2

Hypotonia key components (2)

Answer 2

1. Muscle strength is a key component

2. Tone can be used as an indicator of strength in infants who cannot cooperate with resistance testing

Question 3

Floppiness

Answer 3

A term used to describe babies who have marked muscle hypotonia

Question 4

hypotonia epidemiology (2)

Answer 4

1. Not unusual in newborns

2. Non-neuromuscular causes more common than neuromuscular

Question 5

hypotonia family hx and genetics (4)

Answer 5

1. Genetic abnormalities frequently present after birth, low tone, poor feeder
2. Non-response to painful stimuli
3. Is this a boy? (Duchenne muscular dystrophy)
4. Spontaneous mutation?

Question 6

Hypotonia patient history (7)

Answer 6

very important to ask these questions!!

1. Were there fetal movements (same as previous pregnancies)?
2. What happened at the delivery?
3. Was there birth trauma?
4. Hypoxic-ischemic encephalopathy (HIE)
5. What is the gestational age at birth?
6. IVH/PVL brain lesions
7. Is the infant losing developmental skills- or has not progressed?

Question 7

Hypotonia noting time of lack/loss of tone (3)

Answer 7

1. Rapid onset hypotonia, constipation, poor feeding in infants, think: Infant Botulism (C. botulinum) – a spore-forming organism found in nature
2. Ask what they ate – contaminated honey or soil
3. Treatment: Botulism Immunoglobulin →full recovery

Question 8

Hypotonia in newborn period (4)

Answer 8

1. Asked to evaluate the “floppy” infant
2. Tone related
3. Poor feeder
4. Lack of movements

Question 9

Hypotonia after newborn period (3)

Answer 9

1. Usually accompanied by a concern about developmental progress
2. Lack of meeting milestones
3. Most likely the motor development raises a red flag

Question 10

Hypotonia clinical presentation (5)

Answer 10

1. Posture of full abduction and external rotation of the legs as well as a flaccid extension of the arms
2. When traction is delivered to the arms, there is prominent head lag
3. The presence of a typical ‘myopathic’ facies and lack of facial expression are common
4. Low pitched cry or a progressively weaker cry – easily distinguishes from a vigorous cry of a normal infant
5. Lack of antigravity movements

Question 11

Hypotonia physical exam (3)

Answer 11

1. In newborns tone measurement is subjective
2. Dependent on the experience of the examiner
3. Quantification of tone has been problematic?!

Question 12

maneuvers identified to be useful in the demonstration of tone and the detection of abnormalities of tone (4 maneuvers, 2 info)

Answer 12

1. Pull to sit
2. Scarf sign
3. Shoulder suspension
4. Ventral suspension

INFO:
1, Remember – tone is gestational age dependent and you must take into account the State-Of-Alertness of the infant during exam
2. Regularly performing the maneuvers will help develop a sense of what is normal and what is not

Question 13

Hypotonia neuro level affected… (4)

Answer 13

1. The neurological exam correlates the site of the lesion with the level of the nervous system affected (UMN, Spinal cord, Anterior horn cells, peripheral nerve, neuromuscular junction, muscle).
2. The neuro exam is most important in determining the etiology of hypotonia in infants.
3. Central (60-80% of causes)-(non-neuromuscular)
   * Upper motor neurons – brain, brainstem, cervical spinal junction – inputs from the CNS
4. Peripheral regions (15-30%)-(neuromuscular)
   * Lower motor region, anterior horn cells, neuromuscular junction, muscles

Question 14

Central non-neuromuscular (UMN) hypotonia Causes (7)

Answer 14

1. More common than peripheral disorders
2. HIE
3. Brain insult
4. Intracranial hemorrhage
5. Chromosomal disorders
6. Congenital syndromes
7. Inborn errors of metabolism

Question 15

Peripheral neuromuscular hypotonia Causes (5)

Answer 15

1. Abnormalities in the motor unit specifically the anterior horn cell
2. Spinal muscular atrophy
3. Myasthenia gravis (peripheral nerve)
4. Botulism (neuromuscular junction)
5. Myopathy (muscle)

Question 16

Pompe disease epidemiology and etiology (3)

Answer 16

1. Rare 1:40,000
2. Inherited, fatal disorder if complete deficiency
3. Cannot breakdown glycogen d/t lack of acid alpha-glucosidase (GAA) – excessive amounts of lysosomal glycogen accumulates in the body
   * Heart and Skeletal Muscle

Question 17

Early Infancy Pompe Disease Presentation (9)

Answer 17

1. Hypotonia
2. Poor feeding
3. Poor weight gain
4. Poor tone “floppiness”
5. Head lag
6. Respiratory difficulties
7. Enlarged heart
8. Enlarged tongue
9. Most die within first year of life – cardiac/respiratory complications

Question 18

Pompe disease clinical presentation and progression (3)

Answer 18

1. Musculoskeletal – profound and rapidly progressive muscle weakness
2. Cardiac – marked cardiomegaly/cardiomyopathy
3. Respiratory – progression to respiratory insufficiency

Question 19

UMN neuro manifestations (4)

Answer 19

1. Hypotonia initially that may later present with fisting of the hands, scissoring, seizures
2. May later develop into spasticity and increased tone
3. The deep tendon reflexes may be brisk or easily elicited
4. Serum muscle enzymes, EMG, nerve conduction and muscle biopsy all normal

Question 20

Neuromuscular manifestations (3)

Answer 20

1. May have more facial expression
2. Deep tendon reflexes difficult to elicit or absent in many neuromuscular lesions
3. Loss of tone or strength may signify a progressive condition rather than a static problem; progressively loses tone and strength

Question 21

Prader-Willi Syndrome Etiology (3)

Answer 21

1. Chromosome 15 deletion (paternal) or disomy (maternal)
2. Methylation analysis >99% detected
3. FISH only identifies deletion

Question 22

Prader Willi Syndrome Presentation in Infancy (7)

Answer 22

1. Hypotonia
2. Weak cry
3. Poor feeding
4. Small penis
5. Poor growth
6. Almond shaped eyes
7. Down-turned mouth & thin upper lip

Question 23

Prader Willi Syndrome Disease Progression (5)

Answer 23

1. 2 years of age – develop hyperphagia
2. Overweight
3. Problems related to obesity
4. Behavioral
5. Mild to moderate intellectual impairment

Question 24

Assessing hypotonia evaluation and differential diagnosis (2)

Answer 24

1. Complete history and physical exam

2. Age-appropriate cognitive skills should be assessed

Question 25

Hypotonia clues to help with differential diagnosis (9)

Answer 25

1. Facies of Trisomy 21 2. Poor feeding, hypotonia, small male genitalia think Prader-Willi Syndrome 3. A high-arched palate is often noted in infants with neuromuscular disorders 4. Large tongue may be seen in storage disorders (Pompe) 5. Tongue fasciculation suggests anterior horn cell involvement 6. Neurogenic disorders are associated with a higher incidence of other congenital anomalies 7. Myopathic features are less likely to be associated with other defects 8. Rapid onset with constipation may indicate botulism 9. IEM must be on your list with hypotonia

Question 26

Hypotonia laboratory work up (7)

Answer 26

1. Sepsis has to be ruled out * Electrolytes, (anion gap- elevated in IEM), LFTs, pH, ammonia levels, organic acids, urine for ketones, spinal fluid for WBC (infection) or protein (immune, storage diseases) may be helpful 2. Magnesium levels 3. Serum creatine phosphokinase (CPK) * Screen for muscle fiber necrosis * History suggests degenerative condition, or exam leads to Neuromuscular pathway * CPK is 10-100 times higher than normal in muscular dystrophy 4. Consider EMG 5. IM Neostigmine test (to confirm myasthenia gravis) 6. Muscle biopsy (for neuromuscular disorders) 7. Brain MRI * Exam suggest upper motor neuron (hypotonia with active DTR and ankle clonus)

Question 27

Things to remember with hypotonia (3)

Answer 27

1. Appropriate and cost effective use of lab tests to establish a specific etiologic diagnosis is always desirable 2. The history and physical assessment will point out the possible etiology and the indications for diagnostic tests 3. Etiologic diagnosis is related to the nervous system level of the lesion

Question 28

Hypotonia Management (10)

Answer 28

1. Depends on diagnosis 2. Respiratory support 3. Feeding support 4. Comfort care if appropriate (Werdnig-Hoffman anterior cell disease –rapidly degenerative, terminal condition) 5. Education 6. Early intervention 7. Physical and Occupational therapy 8. Genetics 9. Counseling 10. Neurology

Question 29

Hypotonia take home (7)

Answer 29

1. Infants with hypotonia pose a challenge 2. Key distinction is to determine low tone with or without muscle weakness 3. Weak infants are always hypotonic – but hypotonia can be present with normal strength! 4. ‘Benign congenital hypotonia’ is a diagnosis of exclusion 5. A detailed feeding history from birth may provide valuable diagnostic clues 6. The HISTORY may narrow the possibilities significantly 7. Pregnancy, delivery, postnatal, infection, family history, consanguinity, feeding issues/special diets?

Question 30

Infantile Spasms (West Syndrome) Clinical Presentations (6)

Answer 30

Age-related seizure syndrome with typical movements of: 1. flexion contraction of the trunk with the head bowed and sudden raising of the arms, and cry 2. Sudden jerk followed by stiffening 3. “Jack knife seizures” 4. Most commonly occur just after waking 5. Occur several times in succession in a series – lasts only a second but occurs in a series 6. Often mistaken for colic – but colic does NOT occur in a series

Question 31

Infantile spasms onset and resolution

Answer 31

Onset: 3mo – 2y of age Resolution: 4y of age

Question 32

West syndrome clinical triad (4)

Answer 32

1. Infantile spasms 2. Hypsarrhythmia EEG 3. Mental retartdation 4. 60% have a ‘brain injury’ before the seizures occur but others have no injury or family history

Question 33

Infantile Spasms Differential Diagnosis

Answer 33

1. Birth trauma 2. Congenital infections 3. Benign myoclonus of infancy 4. Colic 5. Sepsis 6. Breath-holding spells (apnea) 7. Sandifer syndrome 8. Infantile shuddering 9. Electrolyte imbalance 10. Hypoglycemia 11. Tuberous Sclerosis – common cause of IS • Drug withdrawal 12. Ohtahara syndrome * Infants with abnormal neurologic exam and structural brain abnormalities * Burst-suppression EEG pattern * Poor developmental prognosis * Devastating disorder

Question 34

Infantile Spasms Work Up (2)

Answer 34

1. May get a full sepsis work up with CSF and MRI 2. EEG to confirm diagnosis * Unusual pattern at rest – hypsarrhythmia – chaotic, high voltage pattern of activity

Question 35

Infantile Spasms Tx (3)

Answer 35

1. Steroid therapy 2. Anti-seizure medications 3. Ketogenic diet? (low carb, high protein and fat-90%)

Question 36

Infantile Spasms Prognosis (3)

Answer 36

1. Most children are developmentally delayed 2. If normal development prior to start of IS may have normal functioning 3. Some develop epilepsy later in life

Question 37

Sacral Dimples and Occult Spinal Dysraphism (5)

Answer 37

1. Skin dimples over the spine commonly referred to as sacral dimples are common minor congenital anomalies, estimated to occur in 3-8% of children. When a clinician sees a skin dimple, the possibility of occult spinal dysraphism (OSD) usually crosses the mind. 2. OSD is a wide-range of skin-colored spinal column and neuraxis abnormalities that are caused by abnormal neurolation. 3. OSD lesions include dermal sinuses, tethered cord, lipomyelomeningocoele, and diastematomyelia. 4. Lesions that are greater than 2.5mm above the anus indicate a need for further evaluation 5. OSD can present with a variety of abnormalities, but is also frequently asymptomatic and can present at any age. Skin abnormalities accompany 50-80% of OSD

Question 38

OSD Clinical Presentation (5) and Prognosis (2)

Answer 38

Prognosis: 1. OSD is less obvious than open neural tube defect 2. Not identified prenatally ``` Presentation: Impairments progress overtime in these closed defects 1. Paresis 2. Spasticity 3. Sensory disturbance 4. Bowel and bladder dysfunction 5. Deformity ```

Question 39

Sacral Dimples: High-Risk Features (7)

Answer 39

1. Multiple dimples 2. Dimple diameter larger than 5mm 3. Location greater than 2.5mm above the anal verge (gluteal creases) 4. Association of a dimple with other cutaneous markings 5. The end is NOT visualized 6. THESE ABOVE NEED FURTHER WORK-UP 7. Work-Up is NOT NEEDED for solitary sacrococcygeal dimples located entirely within the gluteal fold with intact skin visible- Normal Anatomic Variant!

Question 40

OSD Summary (4)

Answer 40

1. Spinal skin dimples and cutaneous lesions are associated with OSD/closed neural tube defects 2. The presence of more than 1 skin dimple anywhere along the neural axis is an indicator of possible OSD and needs further evaluation 3. The neurologic deficits associated with OSD progressive are often not detected until permanent dysfunction 4. Early neurosurgical intervention is best to halt or prevent progression of neurological deficits due to spinal cord tethering

Question 41

OSD Take Home (6)

Answer 41

1. Early Diagnosis = optimal outcome * Early diagnosis of OSD comes from identification of spinal skin dimples!! * Recognition of lesions is important to reduce risk of neurologic, urologic and ortho dysfunction TURN THE BABY OVER 1. Dimples; Identify dimple location and number present * 2. Abnormal Hair growth 3. Asymmetric gluteal creases 4. Pits, sinuses, hemangiomas 5. Skin tags; MAY all be associated with OSD – so image and refer