Hypotonia:

First of all why is Hypotonia more important in pediatrics than in adults?

Because it affects the development and it is a nonspecific sign of lower
and upper motor neuron lesions. So anything that affects the brain in the
first 6 months of age will result in Hypotonia, unlike an adult who will have
spasticity in the case of upper motor neuron lesions and Hypotonia in lower
motor neuron lesions, and this is because the white matter of the brain isn't
yet myelinated and the long tract doesn't work properly so anything that
affects the brain (TORCH infection, hypoglycemia, meningitis, etc) either
temporally or permanent will result in Hypotonia.

Actually the number of diseases which affect the brain in neonatal

period

are more than those that affect the lower neuron, so the most

common cause of neonatal Hypotonia is brain problems and those patient with
brain problems after 6-9 months of age we'll start see spasticity in them,
this means that after 6 months he'll start to have fisting and scissoring and
in the same time he will have head lag which means a combination of central
Hypotonia and limp spasticity and this is a typical characteristic of insult to a
developing brain. Most insults are prenatal or within the first year after life.

How to examine for Hypotonia?

1. Head control: excessive in a hypotonic baby.
2. The traction response: which means when you start to examine for head
lag the infant starts to elevate his head from the bed in spite the
presence of head lag (y3ni he tries to elevate his head) , also he flexes
the knees and ankles with you, absence of traction response indicates
severe Hypotonia and weakness.
3. Vertical suspension: hypotonic baby will slip from you.
4. Ventral suspension: C shaped if hypotonic.
5. Posture: frog like - position which means both elbows and both knees
touch the bed at the same time.
And why do we do these maneuvers rather than asses the tone by moving
the limbs like in adults? Because as we said the Hypotonia here is central and
the limbs maybe spastic, so to assess the central Hypotonia in them we do
these maneuvers, and thats because brain causes of Hypotonia cause central
Hypotonia unlike motor unit problems which cause Hypotonia more in limbs .

What are the features of Hypotonia?

1. Hypotonia in utero: like a decrease in fetal movements or abnormal lie.
2. Arthrogryposis: which is a congenital disorder characterized by multiple
joint contractures, and the most common form is club foot, but still we
have others like contracture of elbow which prevents the infant from
extending the elbow.
3. Polyhydramnios.
4. Abnormal presentation.
5. Problematic delivery.

Now, the most important thing to do when you find a baby with Hypotonia is
to differentiate if it is upper or lower motor neuron problem and the most
common is a brain problem which is affected by acquired diseases more than
motor units.
So what are the clues to differentiate between them?
Cerebral Hypotonia: in addition to having Hypotonia the patient also has:
1. Abnormalities of other brain functions: like he cant concentrate on
your face or having seizers.
2. Dysmorphic features: like micro or macro cephaly.
3. Fisting of the hands: while in motor unit problems there is weakness in
fisting.
4. Malformations of other organs: like cleft lip or cleft palate.
5. Movement through postural reflexes.
6. Normal or brisk tendon reflexes.
7. Scissoring on vertical suspension with spasticity.
So the most important thing in cerebral Hypotonia is there is evidence of
cerebral dysfunction while in motor unite Hypotonia the baby is alert, he only
has motor delay.
So motor unit Hypotonia is characterized by:
1. Normal brain functions: this is the most important one.
2. No abnormalities of other organs.
3. Absent or depressed tendon reflexes.
4. Failure of movement on postural reflexes.
5. Fasciculations.
6. Muscle atrophy.

And here in lower motor neuron problems the baby is hypotonic and weak
while in upper the baby is hypotonic but slightly weak which means when you
start playing with him he starts moving his limbs.
So, how to assess the weakness in infants? By looking at the movement of
the child (antigravity movement).

DD-X to cerebral Hypotonia: anything that affects the brain will result in
cerebral Hypotonia like:
1. CNS infections: TORCH, acquired CNS infections.
2. Chromosomal abnormalities, like:
- Down syndrome.
- Prader - Willi syndrome: hypotonic and Dysmorphic.
3. Cerebral malformations: like holoprosencephaly or Lissencephaly
(smooth brain) and others.
4. Hypoxic ischemic encephalopathy: either pre or post natal.
5. Inborn errors of intermediary metabolism, like:
- Peroxisomal disorders (Zellweger Syndrome).
- Acid maltase deficiency (Pompes disease).
Usually, we cant treat a brain insult after it occurs and we have to prevent
it. The outcome of Hypotonia in the future depends on the severity of the
insult to the brain and the underlying cause of Hypotonia; which means if it is
not severe then the patient will have a delay in acquiring milestones, on the
other hand, if it is severe the patient will not acquire the ability to sit or
walk. So our aim is to diagnose diseases early to prevent brain insult.

As we know, the neuraxis starts from the brain through the spinal cord and
nerves till muscles, any problem in this pathway in infant will give you
Hypotonia.
An examples of it in the brain is Prader-Willi Syndrome, in the spinal cord is
hypoxic ischemic myelopathy, hyper twisting injury of the spinal cord during
delivery, problems in the peripheral nerves in perinatal period is uncommon,
congenital myasthenic syndrome in the neuromuscular junction, congenital
muscular dystrophies, all of these will give you neonatal Hypotonia.

PRADER WILLI SYNDROME:

It is a non-inherited Dysmorphic genetic disorder that results from a
deletion mutation on chromosome 15 from the maternal side, it is a common
genetic cause of obesity, and it is a cause of cerebral Hypotonia.

This syndrome present in infancy with:

a) Profound Hypotonia and muscle weakness.
b) Low birth weight and failure to thrive.
c) Poor suckling, swallowing, & respiratory problems.
d) Lethargy.
e) Subtle dysmorphism triangle mouth, almond shaped eyes, narrow
forehead,
f) Underdeveloped genitalia.

At the age of 2-6 years, the patient starts having:

a) Hyperphagia and preoccupation with food consumption: they start eating
anything even from the rubbish, so this stage is called hunger stage.
b) Slow metabolic rate due to hormonal problems and weight gain (become
obese).
c) Low energy.
d) Behavioral problems and mild mental retardation.

SPINAL CORD INJURY:

Clues to spinal cord injury are affected lower limbs and spared upper limbs,
urinary retention (also in adults and the elderly), dry skin under a certain
level and moist and sweaty skin above that level.

Spinal muscular atrophy: Its a very bad disease, its a primary

degeneration of the anterior horn cells of the spinal cord and motor nuclei of
the cranial nerves, and it's an autosomal recessive disorder with a gene
defect on chromosome 5.
They are classified according to the age of onset to:
1. Proximal SMA type I (severe form): they never sit and die within one
year of age.
2. Proximal SMA type II (intermediate form): able to sit but they dont
walk.
3. Proximal SMA type III (mild form): able to walk but they cant run and
have some developmental delay.

Clinical picture:
1) Lower motor neuron lesion:
a. Hypotonia and flaccid weakness: they are the weakest and the most
floppy infant you will see, they dont have any antigravity movement.
b. Decreased or absent deep tendon reflexes
c. Fasciculations: always a sign of anterior horn cells disease either in
children or adults so we see them also in polio, so always fasciculation
and weakness mean anterior horn problem. In SMA, it is mostly seen
in the tongue and look like a bag of worms.
d. Atrophy.

2) Pectus excavatum: in long standing respiratory muscles weakness.

3) Dysphagia and dysarthria.
Usually , those patients have Hypotonia from birth but able to breathe,
suck and produce sounds, with time the Hypotonia and weakness increase and
the patient loses the ability to suck and swallow and develop Pectus
excavatum by one year of life, they die from respiratory failure.

All the muscles in the body are affected except eye muscles, so you see
these patients usually intubated, alert, awake and cant move their muscles
except eye muscles.
The previous analysis is applied to type 1 SMA.

SMA type 2 is autosomal recessive, onset is after 6 months and less than
18 months and the life span is longer because they dont develop severe
respiratory failure.

SMA type 3 is the best, they have normal life span because they dont
develop respiratory muscles failure.

Diagnosis of SMA: we have to do genetic testing to diagnose SMA and to look

for

evidence

of

denervation

NCS/EMG

(nerve

conduction

study/

electromyography).

There is no treatment to SMA, it is just supportive.

NEONATAL NEUROMUSCULAR JUNCTION DISORDERS:

1. Transient

acquired

neonatal

myasthenia:

when

the

mother

has

myasthenia so the antibodies cross to the baby, good prognosis, and

treatment is to give anticholinesterase 3-5 times daily before feeding
to facilitate feeding. They are not very weak; they have weak swallowing
and may have ptosis but the limbs are slightly weak. Bulbar weakness is
present in most of these patients.
2. Congenital myasthenic syndromes: baby has genetic neuromuscular
disease not autoimmune like myasthenia and not necessary to be postsynaptic, they are much more difficult to treat, some of them are mild
and some are severe.

3. Magnesium toxicity: if the mother is on magnesium sulfate and it will

give you NM junction weakness.
4. Infantile botulism: Environmental most of the times like industrial
areas, the honey is the least reported cause of botulism because nobody
gives honey to his infant. Botulism is characterized by Hypotonia and
autonomic dysfunction like constipation and dilated pupil, they have good
prognosis just to do supportive management. Some of them are so
severe, so we put the patient on a ventilator and GI tube till his
situation improves.

Of course, immediate consideration of a floppy infant is to know the

cause and support the breath and feeding.
How to ask about feeding? Does he suck well, ask if the milk comes out
from the mouth during feeding, ask about aspiration, chocking and weight
of the baby.
Diagnostic workup depends on the underlying cause; if Dysmorphic and
floppy do MRI and genetic testing. If floppy but seems to be lower motor
neuron lesion we do nerve conduction study and PCR, seems like a myopathy
do EMG, seems like a metabolic cause do MRI and metabolic workup.
In general, when you suspect upper motor neuron disorder do MRI to the
brain.

The end