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Pediatric Puzzler. August 2007. Chief Complaint. “My baby is not right and she’s got yellow eyes”. HPI. 5 week old Caucasian female who presents with lethargy, jaundice and poor weight gain. PCP referred to a gastroenterologist for rising direct hyperbilirubinemia. PMH. Birth history:

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chief complaint
Chief Complaint
  • “My baby is not right and she’s got yellow eyes”
slide3
HPI
  • 5 week old Caucasian female who presents with lethargy, jaundice and poor weight gain.
  • PCP referred to a gastroenterologist for rising direct hyperbilirubinemia
slide4
PMH
  • Birth history:
    • FT C/S for failure to progress
    • BW 3.61 kg
    • NICU for 6 days b/c of hypothermia and hypoglycemia  sepsis w/u done was negative
    • NICU labs:
      • initial glucose 27
      • bili t/d (6dol) 15.3/1
  • Diet: Breastfed until DOL 8 when changed to hydrolyzed protein formula secondary to persistent elevated bili. Feeding well per mom
  • Elimination: 10 wet diapers/day, 2 yellow-brown seedy stools/day
the next pcp visit
The next PCP visit
  • Patient was seen by PCP for jaundice at 5 weeks.
  • She was noted to have a bili t/d of 9.5/4.5
  • Patient was referred to a gastroenterologist for further workup
definition of the day
Definition of the Day
  • What is direct hyperbilirubinemia exactly?
    • Direct bilirubin >2 mg/dL
    • Direct bilirubin > 20% of total bili
  • Direct hyperbilirubinemia effects 1 in 2500 infants.
    • That’s fairly common!
    • BUT…it’s never normal!
do you have any questions
Do you have any questions?

Don’t be afraid to ask…

physical exam
Physical Exam
  • Wt 3.55 kg (10-25%) Lt 55 cm (75%) HC 39 cm (50%)
  • T 98.7 P 160 R 36 B/P 92/58
  • Gen: quiet, responds to mom, no apparent distress, minimal subcutaneous fat, no dysmorphic features
  • HEENT: mm dry, sclera icteric, OP clear
  • CV/RESP: RRR no murmurs, CTAB
  • Abd: soft, ND, no HSM, no masses
  • GU: normal female
  • Skin: capillary hemangioma in right axilla
  • Neuro: grossly intact, + moro, +suck, +grasp
what do you think
What do you think?

Top 3 diagnoses

Top 3 tests

…with rationale por favor

what labs do i get
What Labs Do I Get?
  • Elevated LFTs
    • Hepatocellular injury
    • Elevated Alkphos and GGT-- point to obstructive conditions
  • Make sure to fractionate the bili!
  • TORCH titers, Ucx, Sweat test, Urine reducing substances if indicated by Hx/PE
  • Follow up on NBS!
  • Consider liver function studies as well.
slide11
Labs
  • 139 106 13 101 4.6 18 0.7 10.3
  • Alb 2.3
  • Bili t/d 8.9/4.2
  • AST 50/ALT 22/ AP 385
  • ESR 8 (0-20)
  • NBS- normal from the state lab
  • 14.6 11 537 33 s 14 l 81 m3
  • Ammonia 58 (29-70)
  • α 1 antitrypsin - normal
  • UA- 1.004 pH 5; 1 WBC; 0 RBC; no RS
  • Cultures sent BCx, UCx, CSF Cx
while in the hospital
While in the hospital…
  • IVF
  • IV Antibiotics
  • Breastfeed or formula ad lib
  • Is and Os monitored
  • Scans ordered
scan on scan on
Scan on, scan on…
  • Abdominal u/s
    • Reason for order: Exclude surgical cause of extrahepaticbiliary obstruction
    • Result: NORMAL
  • Hepatobiliary nuclear scan
    • Reason for order: Look for patency of biliary tract R/O biliaryatresia
    • Result: NORMAL, gallbladder visualized and excretion was normal
on rounds
On Rounds
  • The astute T3, just joking it’s a L3, questions the UOP on rounds. She noticed that it was 6 cc/kg/hr.
  • The resident had failed to check the baby’s Is & Os for the day. Whoops.
hmm mo problems
Hmm… mo’ problems

As a group, refine your problem definition and differential

Do we need any other labs/ tests? Why?

causes of direct hyperbilirubinemia
Causes of Direct Hyperbilirubinemia
  • IntrahepaticCholestasis
    • Primary
      • Alagille Syndrome
      • Idiopathic Neonatal Hepatitis
    • Acquired
      • Drugs/ Fetal Alcohol
      • Sepsis
      • TORCH
      • Hep B
      • HIV
      • TPN
  • Endocrine Disorders
    • Hypothyroidism
    • Hypopituitarism
  • ExtrahepaticCholestasis
    • BiliaryAtresia
    • Choledochal cyst
    • Choledocholithiasis cyst
  • Genetic/ Metabolic
    • α 1 antitrypsin
    • Cystic fibrosis
    • Galactosemia/ Fructosemia
    • Gaucher disease
    • Niemann Pick
    • Glycogen storage disease
    • Trisomy 18
    • Trisomy 21
    • Tyrosinemia
alagille syndrome
Alagille Syndrome

AD genetic d/o with paucity of bile ducts. May also have PPS and vertebral defects

Features:

Long nose with bulbous tip

Triangular face

Broad forehead

biliary atresia
Biliary Atresia
  • Most common and serious cause of direct hyperbilirubinemia
  • Destroys the intra- and extrahepaticbiliary tree
  • May also see acholic stools
  • Should be diagnosed before 2 months--- HIDA
  • Tx: Kasai then transplant
other causes of conjugated hyperbili
Other Causes of Conjugated Hyperbili
  • Idiopathic neonatal hepatitis
    • Self limited- resolves in 3-4 weeks
    • Giant cells are seen on biopsy
  • Alpha 1 Antitrypsin
    • Most common genetic cause of acute and chronic liver disease in children
    • Liver retains abnormally folded protein
    • May also develop lung disease (later in life)
complications of cholestasis
Complications of Cholestasis
  • Coagulopathy
  • Fat malabsorption
  • Ascites
  • Encephalopathy
back to our patient
Back to Our Patient
  • What do we think about UOP of 6 cc/kg/hr?
  • What could be the cause?
  • Looking back at labs done during the hospitalization, it was noted that the serum sodium peaked at 149 mEq/L
  • What are we worried about now?
diabetes insipidus
Diabetes Insipidus
  • “Flavorless Urine”
  • Characterized by:
    • Inability to concentrate urine
    • Polyuria
    • Polydipsia
  • Cause
    • ADH deficiency- Central
    • Lack of end organ response to ADH- Nephrogenic
      • Thick limb of ascending loop of Henle
      • Collecting duct
diabetes insipidus23
Diabetes Insipidus
  • Characteristics in infancy
    • FTT
    • Vomiting
    • Constipation
    • Unexplained fevers
    • Shock (hypovolemic)
    • Convulsions
more tests done
More tests done…
  • Urine Osmolality= 167 mOsml/L (>200)
  • Serum Osmolality= 300 mOsml/L (275-295)
  • DDAVP was given  UOsm of 310 mOsml/L
  • What type of Diabetes Insipidus is this?
    • CENTRAL
    • The kidney responded appropriately to DDAVP dose.
don t get confused
Don't Get Confused!

DI

SIADH

  • High serum Na
  • Low urine SG <1005
  • Low urine osm 50-200
  • Low vasopressin
  • Tx: DDAVP
  • Low serum Na
  • Low serum Cl
  • Inappropriately concentrated urine
  • Euvolemic or hypervolemic
  • Tx: Fluid restrict
what to do now
What to do now?

Why does this girl have central DI?

What tests do we want now?

correct get a mri
Correct! Get a MRI!
  • MRI was done- Pituitary was completely normal!
    • In Central DI- the signal on T1 is usually abnormal (not as bright (hyperintense) as usual)
  • Further investigation of the pituitary was done. Why?
    • Central DI
    • The glucose in the NICU was low
      • ? Cortisol deficiency
      • ? Growth hormone deficiency
    • Result: Serum cortisol low for age
revisit the h p
Revisit the H & P
  • The resident went back to spend some time examining and observing the infant.
  • She noted that the eyes seemed to “wander”. That is, the baby could not fix her gaze
  • Why? What should you do at this point?
  • Ophthalmology consult was obtained
    • Impression: Bilateral optic nerve hypoplasia
problem definition revisited
Problem Definition Revisited
  • So what do we have now?
    • Direct hyperbilirubinemia
    • Central Diabetes Insipidus
    • Cortisol deficiency
    • Optic Nerve Hypoplasia
  • Can we tie all these problems into one diagnosis?
final diagnosis
Final Diagnosis:

Septo-Optic Dysplasia (SOD)

septo optic dysplasia
Septo-Optic Dysplasia
  • One of the most common forms of congenital growth hormone deficiency
  • Results from incomplete development of forebrain & pituitary
  • Must have 2 of these 3 features for a diagnosis
    • Optic nerve hypoplasia
    • Absent septum pellucidum/corpus callosum
    • Pituitary endocrinopathy (deficiency)
      • Isolated GH deficiency
      • Multiple pituitary hormone deficiencies
  • May also see other midline defects (ex cleft lip)
  • MRI results widely vary
pituitary abnormalities
Pituitary Abnormalities
  • Varying degrees of endocrine disturbance seen
    • None
    • GH
    • TSH
    • LH/FSH
    • ACTH
    • Prolactin
    • ADH
  • Did you know??
    • Hypopituitarism can lead to cholestasis
clinical features
Clinical Features
  • Short stature
  • Precocious/ Delayed Puberty
  • Diabetes Insipidus (25%)
  • Most cases are sporadic but familial forms do occur suggesting genetic defects may play an important role
    • Viruses
    • Teratogens
follow up of our patient
Follow-up of our patient
  • Continued to have low cortisol (replaced)
  • Became hypothyroid and was started on thyroxine
  • Direct hyperbilirubinemia resolved with DDAVP
take home messages
Take Home Messages

What are your take away points?

thanks for your participation

Thanks for your participation

Hope you enjoyed the puzzler and learned something new!