inborn errors of metabolism 09.18.2013

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  • 7/27/2019 Inborn Errors of Metabolism 09.18.2013

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    Nathan Bexfield

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    H&P

    4 m.o.female previously healthy until 3

    months of life

    Noted vomiting 1-5x/day that is mostly

    breast milk that is worse when laying down Emesis is not projectile

    Mother noted lethargy over last month

    Reportedly eats every 2-3 hours whileawake and waking to feed once during the

    night

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    H&P

    Normal UOP and SOP over the last month

    Stool is normal

    Mother also notes that she has lost

    strength and cant hold her head up

    Was seen at the PCP on DOA and found to

    have lost 2 kg since her 2 month WCC

    Sent to Primary Childrens Hospital forwork up.

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    H&P

    PMH

    Term AGA infant born via C-section for

    transverse lie

    5 days in NICU for fever and leukopenia.Cultures were negative and leukopenia

    resolved in 2 weeks

    DDH and currently wearing a harness

    Normal newborn screen x 2

    PSH: None

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    H&P

    Imm: UTD

    Meds: Vit D, Gripe water, Coconut oil

    (for face)

    Allergies: NKDA

    Diet: Breast milk

    FHx: Seizures (Aunt), CHD (cousin),

    Tethered cord (cousin)

    SHx: Lives w/ parents

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    H&P

    ROS: Lacrimal duct stenosis

    Development:

    Not rolling over

    Will not put toys in mouth

    Will not transfer objects

    Cannot sit up w/out support or hold head up

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    Physical Exam

    VS: T 36.6, HR 116, RR 34, BP 91/47,

    SaO2 100% on RA

    Weight: 4.25 kg (0%); Length: 59 cm (13%)

    Gen: Slow to arouse to exam ; si lent cry

    Head: NCAT, AFSOF

    Eyes: PERRL, Red reflex bilaterally,

    difficulty fixating on objects, EOMI, Noconjunctival injection

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    Physical Exam

    Nose: Normal

    Oropharynx: MMM, no cleft, no erythema

    or lesions, weak suck

    Neck: Normal

    CV: RRR, Normal S1/S2, No murmur,

    Pulses appropriate, CR 3 seconds

    Lungs: CTAB, no increased WOB Abdomen: S/NT/BS present/no HSM, Liver

    edge at 1 cm below costal margin

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    Physical Exam

    Extremities: Unable to s traigh ten

    knees, otherwise WNL

    Back: Normal

    GU: Normal. Tanner stage 1

    Skin: Pale, otherwise normal

    Neuro: CN 2-12 grossly intact, dif fusely

    decreased s trength and tone, reflexes

    1+, w ithdraws to painfu l st imul i

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    Labs and Imaging

    Labs:

    CBC: WBC 7.3 (3% Neutrophils, 86%Lymphs), Hgb 13, Hct 36, Platelet 572

    CMP: Na 133, K 3.8, Cl 92, CO2 19,BUN 8, Cr 0.28, Glu 62, Ca 10.5, Pro6.9, Alb 5, ALT 57, AST 54

    Imaging:

    KUB: Normal

    CXR: Normal

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    Hospital course

    Allowed to PO ad lib w/ minimal goal q 3hours via pumped breast milk

    Overnight, was allowed to breast feed afterseveral episodes of emesis

    Neuro was consulted MRI obtained and found edema of cervical

    spine and lower brain stem

    MR spectroscopy showed elevated lactate

    in brainstem NJ placed the next day and feeds were

    started and tolerated

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    Hospital Course

    On hospital day 3, was noted to have irregularbreathing pattern and liver edge was noted tobe at 4 cm below costal margin

    CG8 checked:

    7.28/28/58/13/-12 Lactate 10

    PICU consulted. CT brain obtained and foundto be indicative of inborn error of metabolismand agreed w/ previous MRI/MRS findings

    Metabolic acidosis continued to worsen andthe patient passed away two days later w/suspected mitochondrial disorder

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    See topic table in UpToDate

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    Neurologic Features of IEM

    Neurologic manifestations:

    Lethargy

    Coma

    Seizures Developmental delay or regression

    Peripheral neuropathy

    Abnormalities of tone

    Motor problems Ataxia

    Neuropsychiatric manifestations.

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    GI Features of IEM

    vomiting or dehydration

    poor feeding

    failure to thrive

    decreased gastrointestinal motility

    hepatomegaly or hepatosplenomegaly

    jaundice

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    Other features of IEM

    Cardiomyopathy

    Dysmorphic features

    Ophthalmologic

    Dermatologic

    Hydrops fetalis

    Abnormal odors

    Urine changes

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    Utah Newborn Screen

    METABOLIC DISORDERS: Biotinidase deficiency

    Galactosemia

    Fatty Acid Oxidation Disorders

    Amino acid disorders Organic Acid Disorders

    ENDOCRINE DISORDERS CAH

    Congenital hypothyroidism HEMOGLOBIN DISORDERS:

    Sickle cell disease and otherhemoglobinopathies

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    Take home points

    Not all Failure To Thrive is psychosocial

    Keep IEM in the differential, especially

    w/ constellation of symptoms including

    neurological and gastrointestinal.

    Newborn screens do not screen for

    everything!!