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    Morning Report: Sarah Todd, PGY-3 August 7, 2015

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    Emily Eresuma
    A previously healthy 2 year old girl presented with progressive muscle weakness over 4 months characterized by a wide-based gait, frequent tripping and falling, inability to run or jump, and difficulty getting up from the floor. Physical exam found hyperflexible joints, weak lower extremities, and difficulty walking without support. Initial workup including bloodwork, imaging, and muscle biopsy was unremarkable. Possible diagnoses considered include congenital muscular dystrophy, congenital myopathy, spinal muscular atrophy type 3, and myasthenia gravis.

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    Morning Report: Sarah Todd, PGY-3 August 7, 2015

    Uploaded by

    Emily Eresuma
    242 views19 pages
    A previously healthy 2 year old girl presented with progressive muscle weakness over 4 months characterized by a wide-based gait, frequent tripping and falling, inability to run or jump, and difficulty getting up from the floor. Physical exam found hyperflexible joints, weak lower extremities, and difficulty walking without support. Initial workup including bloodwork, imaging, and muscle biopsy was unremarkable. Possible diagnoses considered include congenital muscular dystrophy, congenital myopathy, spinal muscular atrophy type 3, and myasthenia gravis.

    Original Description:

    Primary Children's Hospital Resident Morning Report

    Original Title

    Weakness

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    A previously healthy 2 year old girl presented with progressive muscle weakness over 4 months characterized by a wide-based gait, frequent tripping and falling, inability to run or jump, and difficulty getting up from the floor. Physical exam found hyperflexible joints, weak lower extremities, and difficulty walking without support. Initial workup including bloodwork, imaging, and muscle biopsy was unremarkable. Possible diagnoses considered include congenital muscular dystrophy, congenital myopathy, spinal muscular atrophy type 3, and myasthenia gravis.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    242 views19 pages

    Morning Report: Sarah Todd, PGY-3 August 7, 2015

    Uploaded by

    Emily Eresuma
    A previously healthy 2 year old girl presented with progressive muscle weakness over 4 months characterized by a wide-based gait, frequent tripping and falling, inability to run or jump, and difficulty getting up from the floor. Physical exam found hyperflexible joints, weak lower extremities, and difficulty walking without support. Initial workup including bloodwork, imaging, and muscle biopsy was unremarkable. Possible diagnoses considered include congenital muscular dystrophy, congenital myopathy, spinal muscular atrophy type 3, and myasthenia gravis.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 19

    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

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