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Morning Report

Sarah Todd, PGY-3


August 7, 2015

Previously healthy 2 YO girl who presents to


neurology clinic for the first time

HPI

Walking strange for about 4 months


Walk described as a wide waddle
Many recent episodes of tripping and falling
Sometimes falls when she is standing still
Can no longer run, jumpor squat
Cannot get up off the floor without help
Cannot lift things most kids her age can
Sometimes complains of foot/leg pain,
especially at night.
Massage made the pain worse

Past Medical/Surgical History


Born atterm with BW of 9 lbs 3 oz
In the NICU on antibiotics for 6 days because
of maternal infection
Eczema
Poor weight gain, recently started on
cyproheptadine by PCP
No prior surgeries

CURRENT MEDS:
Cyproheptadine for appetite stimulation
Topical steroid for eczema, as needed
ALLERGIES: None

IMMUNIZATIONS:

Up to date

Development
Met milestones as a infant, per family
Learned to walk at 10 months
Used to be able to run, jump and
keep up with kids her age
Very talkative. Knows many, many
words in both English and Spanish

Family History
No known family history of muscular problems, unexplained weakness
or loss of milestones
No known family history of pediatric cancers or syndromes
No known family history of seizures, learning disability or
developmental delay
Dad notes that both he and the patient have flat feet

Social History

Lives with mom, dad and two half-sisters


Mom is currently pregnant with a full sibling
Family speaks both English and Spanish at home
Does not attend daycare; grandfather cares for her while parents work

Review of Systems
Positive
Leg pain (often at
night)
Charley horses
constipation (as a
neonate, resolved)
poor appetite
poor weight gain

Negative
Fevers
Rash
Vomiting
Incontinence
Changes in
mood/behavior
Changes in vision
Recent illnesses

Physical Exam
Weight: 11.4 kg (7%) Height:89 cm (18%) OFC: 46.5 cm (11%)
Vital Signs: Temp:Not obtainedHR:104 R: 20 BP: 79/62
General: Well-appearing toddler examined standing up, leaning on
Dads legs. She is playful and talkative.
HEENT: NCAT. No dysmorphic features. Sclera anicteric. Conjunctivae
clear. Ears with normal position and rotation. MMM. Oropharynx
without erythema or ulcerations.
Neck: Supple, no masses or LAD, full ROM.
CV: RRR, No murmur, 2+ pulses in distal extremities. Cap refill <3
seconds.
Resp: Complete air entry bilaterally. No wheezes. No signs of
increased work of breathing.
Abd: Soft, non-tender and non-distended. No HSM. Normal bowel
sounds.
Ext: No clubbing, cyanosis, edema or deformities.
Skin: No rashes, no scars, lesions or unusual birthmarks.

Physical Exam, continued


Neurologic:
Mental status: Awake and alert. Language and interaction seem appropriate for age.
CN: PERRL, EOMI, no ptosis or nystagmus, facial sensation intact, facial movements
are strong and symmetric, hearing intact, palate elevates symmetrically, tongue
protrudes to midline without fasciculations.
Motor: No tremor or abnormal movements at rest. Muscle bulk appears normal, but
calf muscles feel "doughy." Joints are hyperflexible. Stands with knees hyper-extended.
Appears more weak in lower extremities than upper extremities. Cannot get up off the
floor without pulling herself up on furniture or walking hands up legs. Throws a ball
well.
Sensation: Intact to light touch throughout, no pronator drift.
Reflexes: 2+ and symmetric throughout, no clonus, downgoing toes.
Cerebellar: Normal finger-to-nose test without evidence of dysmetria. Appears offbalance while walking. Leans on dad at rest.
Gait/Station: Walks with a wide, waddling gait. Feet turn out bilaterally. Nearly falls a
number of times during the exam. Does not seem to be able to run. Cannot jump or
stand on one foot.

Weakness vs.
Ataxia?

Previously healthy 2
YO girl with
progressive muscle
weakness

CHRONIC WEAKNESS

ACUTE WEAKNESS

Brain
Tumor
CP
Neurodegenerative diseases

Brain
Intracranial Hemorrhage
Head trauma
Stroke
Tumor
Todd's paralysis

Spinal Cord
Myelomeningocele
Tethered cord
Chiari malformation
Amyotrophic lateral sclerosis

Spinal Cord
Trauma
Tumor
Discitis
Epidural abscess
Transverse myelitis
Stroke

Anterior Horn
SMA
ALS

Anterior Horn
Polio

Peripheral Nerves
Nerve palsy (Erb)
Heavy metal toxicity
Congenital peripheral neuropathies

Peripheral Nerves
Guillain-Barre Syndrome
Heavy metal poisoning
Acute intermittent porphyria

Neuromuscular Junction
Myasthenia Gravis

Neuromuscular Junction
Botulism
Myasthenia gravis
Organophosphate poisoning
Snake venom
Tick paralysis

Muscle
Congenital myopathies
Muscular dystrophies
Myotonic dystrophy
Dermatomyositis
Steroid myopathy

Muscle
Rhabdomyolysis
Viral myositis
Pyomyositis
Periodic paralysis
Trichinellosis

Other
Hypothyroidism
Cushing syndrome
Conversion Disorder

Other
Electrolyte
Drug-related
Conversion Disorder

CHRONIC WEAKNESS

ACUTE WEAKNESS

Muscle
Congenital myopathies
Muscular dystrophies
Myotonic dystrophy
Dermatomyositis
Steroid myopathy

Muscle
Rhabdomyolysis
Viral myositis
Pyomyositis
Periodic paralysis
Trichinellosis

The dystrophin associated protein


complex
See the whole figure in UpToDate article: Clinical features
and diagnosis of Duchenne and Becker muscular
dystrophy.

Approach to the Child with


Muscle Weakness
Thorough History
Timing (acute vs. indolent)
History of trauma
Seizure
Headache
Neck/back pain
Fever
Response to exercise
Diet (food-borne illness)
Constipation
Dark urine
Medications/toxins

Physical Exam
- Inspect: muscle hypertrophy,
atrophy, fasciculations, ptosis
- Palpate for tenderness
- Tone/strength: generalized vs. focal,
symmetric (proximal vs. distal vs.
regional) vs. asymmetric
- Full neurologic exam

Additional Studies

Assess respiratory function (ABG, PFTs)


Evaluate electrolytes
CK
Urinalysis
Neuroimaging
Muscle biopsy
Electrophysiologic testing of muscles
and nerves

Workup for our patient


CMP: Na 140 K 3.9 Cl 107 HCO3 22 AG 11 Gluc 82 BUN 8 Cr 0.21
Ca 10.2 Pro 6.9 Alb 4.5 Bili 0.3 Alk phos 201 ALT 16 AST 31
CBC with diff: WBC 7.6 HGB 12.9 HCT 37.4 PLAT 285 Neut 23.6%
Lymph 65% Mono 8% Eos 2.9% ANC 1800
TSH: 2.49
Free T4: 1.2
CK: 83
Imaging: Hip X-rays with 3 views and frog-leg: Normal
Muscle biopsy is pending. If biopsy is normal, shell need an EMG

Possible Diagnoses:
-Congenital muscular dystrophy
-Congenital myopathy
-SMA type 3
-Myasthenia gravis