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Approach to hypotonic infant

Peds
by

Noor Sawalha

on 3 November 2013

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Transcript of Approach to hypotonic infant

Dysmorphic features, Growth Parameters
Muscle bulk
T NE
Strength & Deep Tendon Reflex

Additional important clues
Arthrogryposis
Other family members (M.Dys)
Approach to Floppy infant
Noor Alhuda Sawalha
Background
Classification
Etiology
Physical Exam
Workup
History
An infant with poor muscle tone affecting the limbs, trunk & the cranial–facial musculature.

*Tone:
Resistance felt when moving a joint passively through its range of movement.
=> Hypotonia: Dec.

*Power:
-Strenght of the active movement.
-MRC Scale

*DTR
Central
Prenatal:
Drug \ teratogen exposure, fetal mov, breech, oligo-\polyhydramnios, IUGR
Perinatal:
Birth trauma, anoxia, delivery complications, low cord pH, length of umbalical cord, Apgar score.

Postnatal:
Respiratory effort, character of cry, ability to feed, Level of alertness, Level of spontaneous activity, seizures

Family Hx:
*A 3-generation pedigree.
{Parental age, Affected parents\siblings (occult M.D), consanguinity, stillbirths, childhood deaths}
Grade 0: No visible contraction
Grade 1: Flicker \ fasciculations, no mov
Grade 2: Muscle can move only if gravity is removed
Grade 3: against gravity without examiner's resistance completely removed
Grade 4: Muscle strength is reduced, against resistance
Grade 5: Normal power
Medical Research Council Scale
*Motor Unit (4 Components)
1) Based on anatomical site:
Central (UMNL) vs. Peripheral (LMNL)

2) with\without weakness
Peripheral
M.C

Frog’s leg position
Supine position

Are the head and shoulders raised? (re age)
Prone position
Traction response
Head control is gradually achieved by 4 mo of age.
< 3 mo old
Put your hand under the baby’s abdomen& lift him
NL: head rises, limbs flexed.
Ventral suspension
Like a rag doll!
Axillary suspension
Holds the infant by the axillae without gripping the thorax.
Normal: suspended, flexion
Hypotonic: slip through your hands
usually starts @ 5 mo
Little resistance to passive movements
Assess it via the popliteal angle
Passive movements
Hypertonic!
Except Myotonic Muscular Dystrophy!
Hepatosplenomegaly:
Storage Ds, congenital infection
Wide fontanelles, high forehead, Renal cyst:
Zellweger's Sd (peroxisomal Dz)
Cataract, glaucoma:
oculocerebrorenal (Lowe) syndrome
Abnormal odour:
metabolic disorders
Hepatomegaly, retinitis pigmentosa
: neonatal adrenoleukodystrophy
undesceded testes:
SMA, myotonic muscular dystrophy, congenitalmyopathies, Prader Willi.
Fasiculation (@tongue - denervation):
SMA
Funnel shape thorax, thin & radiolucent ribs:
SMA, myotubular myopathy, neonatal myotonic dystrophy.
Think of!
Multiple joint contractures @ birth.
Associated with LMNL:
- Congenital muscular dystrophies
- Congenital myopathies.
Arthrogryposis
Floppy strong ~relatively!
Inc. DTR
Clonus
Babinski
Global dev. delay
Microcephaly\ suboptimal HC
Convulsions
Axial weakness
Putting it all together!
*Neuroimaging
TFU: in the first instance.
MRI: structural abnormality, R\O HIE.

*EEG: seizures, prognostic information on brain function
* Genetics review, Karyotype (w dysmorphic features)
* TORCH screen
* DNA methylation studies or FISH (Prader-Willi syndrome)
* Metabolic workup
* Plasma copper/caeruloplasmin: Menke
* Thyroid Function test
Central Hypotonia
Blood

Glucose
Gases
U&E
LFT’s
Ketones (β-Hydroxybutyrate, acetoacetate)
Lactate
Acylcarnitine profile
Ammonia
Alanine
Free Fatty Acids
Urine

Ketones
Organic acids screen
Amino acid screen
Glycoaminoglycan screen (if lysosomal Ds suspected)
Metabolic Workup
Workup
Floppy weak
Hypo- to Areflexia
Selective motor delay
NL HC & growth
Alert ~relatively
Low pitched weak cry
Tongue fasciculations
Paradoxical chest wall movement
Peripheral Hypotonia
, Menke Sd
* Creatine kinase:
Normal\ minimally elevated:
SMA
Mildly elevated
(100s)
:
myopathies
Markedly elevated
(1000s)
:
muscular dystrophies


*EMG/NCS studies:
Distinguish b\n myopathic & neurogenic

*Acetylcholine Rc Ab test:
-ve in congenital MG


*LFTs & Ammonia level:
hepatomegaly and GSD

* Depends on the underlying condition
* For most causes of hypotonia, treatment is
supportive.
*Few conditions have specific treatments(Metabolic, thyroid, MG, etc..)
Treatment
By convention the deep tendon reflexes are graded as follow:

0
: No response
1+
: A slight but definitely present response
2+
: A brisk response
3+
: A very brisk response
4+
: A tap elicits a repeating reflex (clonus)
-Nelson textbook of pediatrics, 19th edition.

-Pediatrics & child health, 2nd edition, Mary Rudolf.

-Parsad & Parsad 2010, "Genetic evaluation of the floppy infant", Seminars in fetal & Neonatal medicine.

-Bodamer et al 2013, "Approach to the infant with hypotonia and weakness", Up to date.
Scarf sign
Pull arm gently across the chest;
Elbow to mid-sternum
*Stool analysis:
Clostridium botulinum or botulinum toxin
*Muscle biopsy: Gold standard
for diagnosing muscle diseases
*Nerve biopsy:
Diagnostic for hypomyelinating neuropathy
*Genetic testing:
SMN gene deletion ( 95% SMA 1), myotonic syndromes
O
References:
Weakness of antigravity movements => the most sensitive clinical marker for neuromuscular disorders!
Take home massage
* R\O all acute & acquired disorders {sepsis, acute infectious, trauma, meds}
Eye Examination
Cataracts \Pigmentary retinopathy:
peroxisomal Ds
Lens dislocation:
sulfite oxidase/molybdenum cofactor deficiency
Eye Exam
R\O: ICH, Infection
(HIE)
Movements
-Spontaneous mov. & fixation on objects & following them
- Oculocephalogyric reflex: gentle rotation of the head
No fixation \ following + positive reflex --> lesion above the brainstem.
-Gestational age, preterm: repeat @ suitable intervals.
-State of alertness of the infant @ time of examination
- Exposure to CNS
depressant meds
Factors influence assessment of muscle tone
Full transcript