inborn errors of metabolism 09.18.2013
TRANSCRIPT
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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!!