7/27/2019 Hypotonia 09.30.2013

1/24

MORNING REPORTCarrie JohnsonSeptember 30th, 2013

7/27/2019 Hypotonia 09.30.2013

2/24

HPI

In continuity clinic

12 month Well Child Check, new patient to the practice

Mom has concerns about previous diagnoses of low

tone and developmental delay First noted concerns at age 2-3 months when he was not

holding his head up as well as cousins of the same age

Has been enrolled in Early Intervention since 6 months

old Receives PT/OT every other week

7/27/2019 Hypotonia 09.30.2013

3/24

Birth History

Uncomplicated pregnancy, reported normal intrauterine

fetal activity

Term vaginal delivery, forceps-assisted

8 pounds 5 ounces Providers mentioned moderate low tone at birth but no

resuscitation efforts necessary

Routine Well Baby Nursery Care, discharged with Mom

Breastfed with a good latch

7/27/2019 Hypotonia 09.30.2013

4/24

Developmental History

Persistent Moderate low tone noted at all subsequent

Well Child Checks.

2 months: Social Smile, makes eye contact, tracking

appropriately, breastfeeding with a good suck. Struggles

with head control

4 months: Persistent impaired head control, minimally

raises head when placed prone. Does not place weight on

legs. No laughing, minimal cooing. Does not grasp

objects.

6 months: Does not sit unsupported, no tripod-ing, no

rolling. No grasping of objects still.

7/27/2019 Hypotonia 09.30.2013

5/24

Developmental History

10 Months: discontinued breastfeeding. Trouble taking abottle. Takes formula from Sippy cup with valve removed.Started purees, takes without coughing and gagging,pushes food out of mouth mostly.

11 months: Rolling, able to sit unsupported. Raises head90 when prone, does not push up with arms.

12 months: No pulling to stand, does not consistently bearweight. Raking grasp, no pincer. No self feeding. Nobabbling/consonants, just guttural noises. Does make eyecontact. Sucks on pacifier. Now grasps objects, notransfer between hands, does not bring to mouth.

No loss of skills previously required. Making progress,especially since early intervention.

7/27/2019 Hypotonia 09.30.2013

6/24

Growth History

Weight percentile has decreased with time, previously 50th

percentile, more recently at 4th percentile

Height consistently between 25-50th percentile.

OFC stable at 30th

percentile.

7/27/2019 Hypotonia 09.30.2013

7/24

PMH

Noisy breather, evaluated by ENT. Laryngoscopy without

any anatomical abnormalities.

Saw Ophthalmology at 6 months. Normal optic nerve, no

abnormalities.

No concern for seizures

7/27/2019 Hypotonia 09.30.2013

8/24

Medications: None

Allergies: NKDA Immunization: received up to 6 month vaccinations, then

held out of mothers concern for delay.

Family History: Two maternal male cousins with Autism

Spectrum Disorder (finished HS, live with parents, work ingrocery store). Triplet siblings, born at 28 weeks, Doing

well. No chronic conditions, genetic syndromes, seizures,

development delay, or learning disabilities

Social: Lives with Mom, Dad, triplet siblings. No daycare.

ROS: sensitive to textures, lights, noises.

7/27/2019 Hypotonia 09.30.2013

9/24

Physical Exam

Wt 8.76 kg (4%) Height 75.5 cm (32%) OFC 46 cm (30%)

T 35.8, HR 144, RR 40

Gen: Well developed but small for age. Smiling,

interactive, fussy when laid supine or when pacifier taken HEENT: NCAT, Mild hypertelorism, intermittent left

esotropia, almond shaped eyes, broad nasal root,

tenting of the mouth, protruding tongue when pacifier

removed. Normally positioned ears.

Neck: No LAD, full ROM

Resp: CTAB, intermittent inspiratory stridor

CV: Moderate Pectus Excavatum, RRR, no murmur

7/27/2019 Hypotonia 09.30.2013

10/24

Physical Exam cont.

Abd: distended but soft. No HSM. Mild reducible

umbilical hernia

Extrem: Long fingers and toes, stacking of 2nd, 4th

toes over 3rd toe bilaterally. No distinct Ulnar bulge,

long slender fingers and toes. No abnormal palmar

creasing.

GU: Small penis and scrotum. Testes palpable

bilaterally

Back: No dimples or hair tufts

Skin: Fair skin, caf-au-lait spot on right leg

7/27/2019 Hypotonia 09.30.2013

11/24

Neuro Exam

No distinct language or consonant sounds

RR bilaterally, Fixates but does not consistently track.No ptosis, nystagmus. Intermittent left esotropia.Symmetric facial movements. Palate elevates, tongue

protrudes, no fasciculations Diffuse hypotonia with mild slip through on vertical

suspension, mild head lag. Normal strength and bulk forlevel of tone. No abnormal movements at rest. Brieflysits, briefly bears weight, will left head when prone,

not chest.

DTRs 1+ UE, 2+ LE, symmetric.. No clonus

Does not reach for objects, briefly grasps objectplaced in hand

7/27/2019 Hypotonia 09.30.2013

12/24

12 month old, former term infant with longstanding diffuse

hypotonia, motor development delay, dysmorphic facial

features, and congenital anomalies.

7/27/2019 Hypotonia 09.30.2013

13/24

Labs

CK

Muscle inflammation, damage (ex: Muscular Dystrophy)

Acylcarnitine

Disorders of fatty acid oxidation (ex: medium-chain acyl CoA

dehydrogenase deficiency) and organic acid metabolism (ex:

Propinionic Acidemia, Glutaric Acidemia)

Plasma Amino Acids, Urine organic acids

Looking for defects in Protein Metabolism (ex: PKU, Maple Syrup

Urine Disease, Homocystinuria) Lactic Acid

Defects in carbohydrate metabolism

All Within Normal Limits

7/27/2019 Hypotonia 09.30.2013

14/24

Imaging

MRI Brain without Contrast

Midline anatomy and myelination normal

Delayed myelination throughout internal capsule,

supratentorial myelination more typical for 6-8months of age

Axial Imaging shows mild trigonocephaly reflecting

early metopic suture closure

Normal Spectroscopy

7/27/2019 Hypotonia 09.30.2013

15/24

Final Diagnosis

Yet to be determined

Considerations include

Prader-Willi

Parents holding off on genetictesting, Methylation studies

until meeting with Genetics

7/27/2019 Hypotonia 09.30.2013

16/24

Infantile Hypotonia vs. Weakness

Hypotonia is reduced resistance to passive range of

motion in joints; weakness is reduction in the maximum

power that can be generated.

Hypotonia is an impairment of the ability to sustain

postural control and movement against gravity...exhibit

poor control of movement, delayed motor skills, and

hypotonic motor movement patterns.

Weak infants always have hypotonia, but hypotonia may

exist without weakness

The Floppy Infant Evaluation of Hypotonia. Pediatrics in Review Vol.30 No. 9 September 1, 2009. pp. e66e76

7/27/2019 Hypotonia 09.30.2013

17/24

Prader Willi Syndrome

Multi Systemic Disorder

Caused by the loss of expression of the paternally

inherited genes from chromosome 15q11-q13.

can be caused by a de novo deletion, maternal uniparental disomy

where both copies are inherited from the mother, or an imprinting

mutation wherein gene expression is inhibited.

Clinical diagnosis confirmed by methylation test.

Prevalence of about 1 in 12,000 births

Prader-Willi Syndrome: Consensus

Diagnostic Criteria. Pediatrics Vol. 91 No. 2

February 1, 1993. pp. 398 -402

7/27/2019 Hypotonia 09.30.2013

18/24

Diagnostic CriteriaMAJOR MINOR

- Neonatal hypotonia with poor

suck, feeding problems, FTT in

infancy;

- Onset of rapid weight gainbetween 12 months and 6 which

causes obesity;

- hyperphagia and foraging for

food (onset ~2-4 years old)

- hypogonadism

- characteristic facial features

(dolichocephaly, almond-shaped

eyes, down-turned mouth)

- developmental delay with

mental retardation

- Decreased fetal movement or

infantile lethargy

- Sleep apnea

- Short stature- Hypopigmentation

- Small hands or feet

- Characteristic behavior

problems (temper tantrums,

obsessive-compulsive

behaviors, opposition, rigidity)

- Skin picking

- Esotropia and myopia

- Thick viscous saliva

- Speech articulation defects.

7/27/2019 Hypotonia 09.30.2013

19/24

Our Patient

Infant meets 5 of the major criteria for PWS

Infantile hypotonia or poor suck

Feeding problems

Dysmorphic facial features

Hypogonadism

Developmental delay

Minor criteria

Small hands and feet Pale skin

?Sleep apnea

7/27/2019 Hypotonia 09.30.2013

20/24

Treatment

Multidisciplinary team Genetics

endocrinology

nutrition

primary care physician Psychiatry/Behavioral Health

Approach

Stringent dietary restrictions (often involves lockingkitchen cabinets and refrigerators).

Encouragement of healthy food choices

Exercise

A normal life span may be achieved if obesity and itsrelated complications are avoided.

7/27/2019 Hypotonia 09.30.2013

21/24

Growth Hormone

Some benefit for improved height velocity, decreased fat

mass, improved body composition, improved behavior

and appetite control

Must be used in conjunction with diet, exercise

*Case reports of fatalities related to sleep apnea and

sudden death.

7/27/2019 Hypotonia 09.30.2013

22/24

Pearls

May present with central adrenal insufficiency (inadequate cortisolproduction during times of stress)

High pain tolerance or lack of typical pain signals is common, maymask the presence of infection or injury.

increased risk of respiratory problems. Hypotonia, weak chest

muscles, and sleep apnea are potential complicating factors Water intoxication has occurred in relation to use of certain

medications with antidiuretic effects and from excess fluid intakealone

Vomiting rarely occurs in individuals with PWS (important to

consider if possible ingestion of uncooked, spoiled, or otherwiseunhealthful food) may be sign of serious illness

increased risk of complications from anesthesia

Unusual reactions to standard dosages of medications caution in giving medications that may cause sedation: prolonged and

exaggerated responses have been reported Medicalhomeportal.org

7/27/2019 Hypotonia 09.30.2013

23/24

Learning Points

Recognize clinical features of PWS

Younger: hypotonia, feeding difficulties, global developmental delay

Older: Excessive eating, obesity, behavioral problems

Consider in cases of intellectual disability, hypothalamic

hypogonadism

Results from the lack of a paternally derived gene

normally present on chromosome 15.

Requires Multidisciplinary approach

GH becoming standard of care

7/27/2019 Hypotonia 09.30.2013

24/24

References

1. Dawn E. Peredo and Mark C. Hanniba. The Floppy

Infant Evaluation of Hypotonia. Pediatrics in Review Vol.

30 No. 9 September 1, 2009. pp. e66e76

2. Barbara K Burton. Inborn Errors of Metabolism in

Infancy: A Guide to Diagnosis. Pediatrics Vol. 102 No. 6

December 1, 1998 pp. e69

3. Cassidy et al. Prader-Willi Syndrome: Consensus

Diagnostic Criteria. Pediatrics Vol. 91 No. 2 February 1,

1993. pp. 398 -402

4. Bode. Index of Suspicion Case 4. Pediatrics in Review

Vol. 26 No. 9 September 1, 2005

5. Medical Home Portal