PEDIATRIC PUZZLER
OCTOBER 30th, 2007
Rachel and Caroline, MDs
Best Peds Chiefs Ever
HPI
Pt is a 9 yo autistic boy who presents to his PCP
with R hip pain and a limp.
 3 months ago he had a URI with fever and
shortly thereafter developed this hip pain. He has
had trouble climbing stairs as well.
 He also has been mildly fatigued and irritable
according to his mom.
 Of note, there has been a 3.6kg weight loss in the
past 3 months.

PHYSICAL EXAM (REPORTEDLY)
ROM of hips normal with some pain at end of
abduction
 Neuro

Gait- broad based
 Reflexes- normal


Skin- no petechiae

Exam otherwise WNL
YOU’RE THE PEDIATRICIAN
What are your top 3 differentials?
What 3 lab tests do you want to order?
THE PLOT THICKENS
4 days after his last visit, the patient’s symptoms
worsen and mom brought him to ER where he
was admitted
 He refuses to walk or sit up and won’t play.
 Mom noticed a rash on his legs.


ROS: no fever, night sweats, dysphagia, N/V/D,
cough, SOB, or urinary complaints.
PAST MEDICAL HISTORY
5 mo old- communicating hydrocephalus (dx by CT)
 2 yr old- dx with Autism

Baseline: nl motor function; fecal/urine incontinence
 +Stranger anxiety and stereotypic behaviors such as
head banging

Med: Clonidine
 No sick contacts
 No travel or insect bites
 Family Hx:

NKDA
Maternal: leukemia, breast ca, bone ca
 Paternal: leukemia, uterine ca, bone ca

PHYSICAL EXAM: PART DEAUX
Vital signs: normal
 Gen: alert, interacts with mom
 HEENT: OP clear, TMs clear, sclera nl
 CV/Resp: RRR no murmurs, CTAB
 Abd: soft, NT, ND, no masses or HSM, no
tenderness to palpation of spine
 Joints: full ROM of all joints, still tender at end
of abduction of L hip, no deformities, redness or
swelling of joints

MORE EXAM

Neuro:






CN: PERRL, nl fundus, other CN intact
Tone: normal
Sensory: normal
Motor: 4/5 throughout, no muscular atrophy.
Unwilling to bend knees or hips to sit or bend over.
Gait: Able to bear weight but walks with broad based
gait with out stretched arms. Walked slowly and
often reached for support.
Cerebellar: no ataxia
SKIN EXAM
REFINE YOUR DIFFERENTIAL
What are your top 3 diagnoses?
What studies do you want now?
LABS/STUDIES

Plain films of spine
and pelvis- normal

Anticardiolipin ab neg
 Anti dsDNA neg

CMP wnl
 LDH nl
 CK nl
 C3/C4 nl
 SED 59 (0-20)
 CRP 24 (<1)

11.4
8.4
327
32.3
48s 42 l 5m 5e
MCV 71
ANA negative
MORE LABS

MRI of brain

Stable
ventriculomegaly
Iron 22 (45-160)
 Ferritin 46 (30-300)
 TIBC 320 (228-428)

MRI of spine- normal
 MRI of pelvis
Multifocal
hyperintense
enhancing lesions
 Abnormal periosteal
enhancement
throughout pelvis

Iron studies

Bone scan

Normal
WHAT HAPPENED NEXT
Pt was sent home with Tylenol with codeine
 4 days later, he still wasn’t walking.
 He also had swollen knees, gingival swelling and
bleeding.
 The rash had become confluent.

PHYSICAL EXAM
Normal vital signs
 HEENT:

Hypertrophic gingiva
 Palatal petechiae


Skin


Palpable petechial
rash over legs and feet
Joints

Full ROM except R
hip which had pain
with flexion and
abduction
THE PATIENT IS READMITTED
What further workup should be done?
MORE AND MORE STUDIES

Bone marrow was done


Focal edema and fibrosis with extravasated RBCs;
normal flow cytometry
L knee joint aspirate
Gram stain negative
 917 wbc: 13s, 29l, no blasts
 Culture sent

8.4
10.6
408
25.8
59s 36l 4m 1e
SED 95
CMP, Coags, IgGAME : normal
PROBLEM DEFINITION
9 yo boy with autism presents with limb pain
and progressive decrease in ambulation
followed by a rash and gingival hypertrophy.
LET’S GO BACK TO THE BEGINNING
Multi-organ presentation: joints, skin, oral
mucosa
Remember our patient is autistic. Could his
autism be playing a role in his disease?
AUTISM
Characterized by abnormalities in social interaction,
communication and behavior (DSM IV Criteria)

Social Interaction





Impairment of
nonverbal behaviors
such as eye contact or
gestures
Poor peer relationships
Solitary play
Lack of emotional
reciprocity
Don’t demand attention

Communication
Delay in spoken language
 Don’t initiate conversation
 Repetitive language
 Lack of make-believe play


Behavior
Preoccupation with pattern
 Inflexible with routines
 Stereotyped motor
movements
 Preoccupation with parts of
objects

FROM UPTODATE
“Rituals — Apparently inflexible adherence to
specific, nonfunctional routines or rituals is another
characteristic feature of autism. These may manifest
during various aspects of daily life, such as the need
to always eat particular foods in a specific order, or to
follow the same route from one place to another
without deviation. Rituals may also manifest as
repetitive ordering of toys, or mimicking the actions
or dialogue from television or video”
OUR PATIENT

His diet was restricted to foods of certain color
and consistency.
Toaster pastries
 Cola 





Sounds good to me!!!
No fruits, vegetables or juice
No MVI
His recent URI may have increased his metabolic
needs as well
*Of note, autistic children are at risk for a variety
of vitamin deficiencies: A, D, and C especially!
SO WHAT’S THE DIAGNOSIS?
Tie together the joint pain, the MRI changes, the
rash and the gingival swelling…
THINK ABOUT THE SHORT DIFFERENTIAL
OF GINGIVAL SWELLING
YOU GUESSED IT!!!
SCURVY!
SCURVY
Vitamin C deficiency
 Vitamin C plays an essential role in collagen
synthesis


Cofactor in hydroxylation of proline to hydroxyproline
First described in 1550 B.C.
 Successful treatment with oranges and lemons
established one of the earliest recorded clinical
trials in 1753.

SCURVY- VITAMIN C DEFICIENCYDEFECTIVE COLLAGEN SYNTHESIS








Petechiae
Ecchymoses
Corkscrew hairs
Hyperkeratosis
Perifollicular
hemorrhages
Gingival swelling and
hemorrhage
Subperiosteal bleedingBone Disease
Subungual hemorrhage






Lethargy
Fatigue
Depression
Vasomotor instability
Acute Bone Marrow
Hemorrhage
Poor wound healing
CORKSCREW HAIRS IN HYPERKERATOTIC FOLLICLES
Vitamin C Deficiency
Deficient collagen
production in connective
tissue around small
blood vessel sheaths and
sheaths of rapidly
growing bone
Reduced collagen
production results in
decreased bone
deposition, weakness,
hemorrhage and
fractures
Subperiosteal blood
vessels rupture and lift
the periosteum causing
reactive bone deposition
A radiograph of the left wrist (Panel A)
shows irregularity with widening of the
distal ulnar physis (arrow). However,
there is normal mineralization of the zone
of provisional calcification on the
metaphyseal side of the growth plates and
surrounding the epiphyses. (The curved
band is a tube outside the patient's hand.)
A radiograph of the right knee (Panel B)
shows additional findings typical of
scurvy: metaphyseal irregularities with
spurring (Pelkan's sign, black arrows);
white lines surrounding the epiphyses
(Wimberger's sign), indicative of
osteoporosis; a white line of Frankl in the
zone of provisional calcification (white
arrowhead) with a lucent line immediately
below this (Trummerfeld zone or scurvy
line, black arrowheads); and periosteal
reactions along the metaphyses (white
arrows). The estimated bone age is 2 years
behind the patient's chronologic age.
PLAIN FILMS MADE
THE DIAGNOSIS!
Scurvy line
Bone Age 2 years
behind
chronological age
Widened and
Irregular growth
plate
Osteoporosis of
epiphysis with
sclerotic ring
Periosteal
elevation
Subperiosteal
hemorrhages lead
to fragmentation
and metaphyseal
spurs
Dense Zone of
calcification at
margins of growth
plate
OUR PATIENT
Serum Vitamin C level 0.12 mg/dL (0.2-1.9)
 25-OH Vit D and PTH also low

Started on Vitamin C, 160 mg daily
 Ped MVI
 Within one day, patient more comfortable, sitting
up, able to bear weight on legs
 Continued improvement at one month follow up

WORTH MENTIONING…
AKA Ascorbic Acid
 Vitamin C is renally excreted.
 Excessive mega doses can cause oxalate and
cysteine nephrocalcinosis.


Vitamin C can trigger a hemolytic crisis in a
patient with G6PD deficiency!
MORAL OF THE STORY….
CHEERS!!!!!!!!
AHOY
MATES!
Go Forth
And Heal
Hope you
enjoyed
another
edition of
our
Pediatric
Puzzler!