pediatric puzzler
DESCRIPTION
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. - PowerPoint PPT PresentationTRANSCRIPT
PEDIATRIC PUZZLEROCTOBER 30th, 2007Rachel and Caroline, MDsBest 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 PEDIATRICIANWhat 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 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 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
REFINE YOUR DIFFERENTIALWhat are your top 3 diagnoses?What studies do you want now?
LABS/STUDIES Plain films of spine
and pelvis- normal
11.48.4 327
32.3
48s 42 l 5m 5eMCV 71
ANA negative Anticardiolipin ab
neg Anti dsDNA neg
CMP wnl LDH nl CK nl C3/C4 nl SED 59 (0-20) CRP 24 (<1)
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 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 READMITTEDWhat 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 sent8.4
10.6 408 25.8
59s 36l 4m 1eSED 95CMP, Coags, IgGAME : normal
PROBLEM DEFINITION9 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
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
Characterized by abnormalities in social interaction, communication and behavior (DSM IV Criteria)
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 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
CORKSCREW
HAIRS IN
HYPERKERATO
TIC FOLLICLES
Vitamin C Deficiency
Deficient collagen production in connective tissue around small blood
vessel sheaths and sheaths of rapidly growing bone
Subperiosteal blood vessels rupture and lift the periosteum causing
reactive bone deposition
Reduced collagen production results in
decreased bone deposition, weakness,
hemorrhage and fractures
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 FILM
S MAD
E THE D
IAGN
OSIS!
Bone Age 2 years behind chronological ageWidened and Irregular growth plateOsteoporosis of epiphysis with sclerotic ringPeriosteal elevationSubperiosteal hemorrhages lead to fragmentation and metaphyseal spursDense Zone of calcification at margins of growth plate
Scurvy line
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 ForthAnd Heal
Hope you enjoyed another edition of our Pediatric Puzzler!