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PEDIATRIC PUZZLER. OCTOBER 30 th , 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.

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pediatric puzzler

OCTOBER 30th, 2007

Rachel and Caroline, MDs

Best Peds Chiefs Ever

  • 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
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
You’re the Pediatrician

What are your top 3 differentials?

What 3 lab tests do you want to order?

the plot thickens
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
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 NKDA
  • No sick contacts
  • No travel or insect bites
  • Family Hx:
    • Maternal: leukemia, breast ca, bone ca
    • Paternal: leukemia, uterine ca, bone ca
physical exam part deaux
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
More Exam
  • Neuro:
    • CN: PERRL, nlfundus, 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
refine your differential
Refine your differential

What are your top 3 diagnoses?

What studies do you want now?

labs studies
  • Plain films of spine and pelvis- normal


8.4 327


48s 42 l 5m 5e

MCV 71

  • ANA negative
    • Anticardiolipinabneg
    • Anti dsDNAneg
  • CMP wnl
  • LDH nl
  • CK nl
  • C3/C4 nl
  • SED 59 (0-20)
  • CRP 24 (<1)
more labs
More Labs
  • MRI of brain-
    • Stable ventriculomegaly
  • MRI of spine- normal
  • MRI of pelvis-
    • Multifocal hyperintense enhancing lesions
    • Abnormal periosteal enhancement throughout pelvis
  • Iron studies
    • Iron 22 (45-160)
    • Ferritin 46 (30-300)
    • TIBC 320 (228-428)
  • Bone scan
    • Normal
what happened next
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
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
The patient is readmitted

What further workup should be done?

more and more studies
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


10.6 408


59s 36l 4m 1e

SED 95

CMP, Coags, IgGAME : normal

problem definition
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
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?


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
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
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
So what’s the diagnosis?

Tie together the joint pain, the MRI changes, the rash and the gingival swelling…

  • 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 deficiency defective collagen synthesis
Scurvy- Vitamin C Deficiency- Defective Collagen Synthesis
  • Lethargy
  • Fatigue
  • Depression
  • Vasomotor instability
  • Acute Bone Marrow Hemorrhage
  • Poor wound healing
  • Petechiae
  • Ecchymoses
  • Corkscrew hairs
  • Hyperkeratosis
  • Perifollicular hemorrhages
  • Gingival swelling and hemorrhage
  • Subperiosteal bleeding- Bone Disease
  • Subungual hemorrhage

A radiograph of the left wrist (Panel A) shows irregularity with widening of the distal ulnarphysis (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
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

Plain Films made the diagnosis!

Scurvy line

our patient1
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
Worth mentioning…
  • AKA Ascorbic Acid
  • Vitamin C is renally excreted.
  • Excessive mega doses can cause oxalate and cysteinenephrocalcinosis.
  • Vitamin C can trigger a hemolytic crisis in a patient with G6PD deficiency!

Go Forth

And Heal

Hope you enjoyed another edition of our Pediatric Puzzler!