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Pediatric Case StudyLawrence Raisz Memorial New England Bone Club

10/30/2014

Nina S. Ma, M.D.

Boston Children’s Hospital

1

Presentation of case

• 11 yo boy presented to Bone Health Clinic with

bilateral swollen knees and refusal to bear weight

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11 days priorPresented to general pediatrician’s office because of limping x 3 days

• No trauma, fever, bruising or swelling to his legs, not crying in pain

• Sitting and crossing legs seemed fine

• Not able to run

• 2 weeks prior he had a toenail issue and 1 week prior he hit his left shin, but seemed to recover

• Exam – well, non-toxic appearing child with limp, but normal exam of his lower extremities. Did not show discomfort with palpation or range of motion, but exam was limited due to lack of cooperation. No rashes or abnormal skin findings.

• CBC – normal

• Hip X-ray – normal (no fracture/dislocation, no joint or soft tissue abnormality)

• Pediatrician suspected toxic synovitis and recommended motrin Q6hr for 5-7 days and to return if fever, swelling, increased pain, refusal to walk

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4 days priorPresented to general pediatrician’s office again because of continued limping gait

• Over the past week, started to walk with his right leg turned inward, then the left leg, and eventually progressed to toe walking and scooting on the floor

• Mother noticed difficulty for the boy to climb out of the bathtub

• Father noticed one of the knees looked swollen

• Appetite decreased over the past few days, only eating cheese sandwiches and chocolate milk

• Exam – well, non-toxic appearing child with limp. Temp 97.5F. Throat clear without erythema, edema or exudate and mucous membranes moist. Abdomen was soft, non-tender, no masses. Very odd gait, hobbling and rocking back and forth while walking on his toes, never fully straightening either leg. Left knee had mild swelling and kept in a flexed position when supine. No apparent pain with manipulation of the lower extremities from hip to toe. Skin was intact without rashes or lesions.

• Pediatrician suspected arthritis and ordered blood tests and L knee films – no fracture, normal bones, joints and soft tissue

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Blood tests (PCP)

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11 days prior (PCP) 4 days prior (PCP)

WBC 6.5 (4.4-13.5) 7.38 (4.5-11.0)

Hemoglobin 13.8 (11.7-15.0) 11.6 (11.5-15.5)

Hematocrit 40.6 (35-45) 34.2 (35-45) L

Platelet 255 (140-440) 268 (140-440)

MPV

RBC 4.8 (3.8-5.4) 4.19 (4-5.2)

MCV 81.6 (77-95)

MCH 27.7 (27-31)

MCHC 33.9 (32-36)

RDW 12.3 (12-14) 11.9 (11.5-14.5)

HDW

Absolute Neutrophil Count 2.8 (1.5-8.0) 3.84 (1.8-7)

Absolute Lymphocyte Count 2.7 (1.5-7.0) 2.9 (1.5-6.5)

Absolute Eosinophil Count 0.18 (0.1-1)

Neutrophil/Band 43.1 (37.0-80.0) 52.1 (54-62) L

Left Shift

Lymphocyte 41.6 (10-58.5) 39.3 (25-50)

Monocyte 4.6 (4.7-12) L

Eosinophil 2.4 (0-3)

Basophil 1.2 (0-1) H

Atypical Lymphocyte

ASO Titer 1:2 (400-800) Pos

Parvo B19 IgG 4.95 Pos

Parvo B19 IgM 0.10 Neg

Lyme IgG/IgM Neg

Anti-Nuclear Ab <1:40 Neg

ESR 28 mm/hr H

2 days priorPresented to the Emergency Department because of a lack of improvement and perceived worsening of pain in the legs

• Refusal to bear weight, needing to be carried by mother; when he did walk still on his tip toes

• No trauma, bruising, bleeding, rash, fever, cough, difficulty breathing, chest pain, vomiting, diarrhea, change in urine output, headache

• No allergies or chronic medications

• PMH – Autism

• Exam – Temp 38.3C, HR 126, RR 20, SBP 122. Non-toxic appearing child, warm dry skin, normal head and neck, RRR without murmur, CTAB, soft, non-tender abdomen, normal back and GU without lesions or tenderness. Lower extremities – inability to fully extend the left knee, normal flexion, no warmth, erythema, or swelling of joints. Nonverbal but alert and cooperative.

• DDx – contusion, fracture and sprain, also possible infectious process such as osteomyelitis; doubt septic arthritis

• Plan – blood tests, X-rays, Orthopedics consultation

6

Blood tests (ED)

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Reference Range 11 days prior (PCP) 4 days prior (PCP) 2 days prior (ED)WBC (5.69 - 9.88) 6.5 (4.4-13.5) 7.38 (4.5-11.0) 7.90 K cells/uLHemoglobin (11.0 - 13.3) 13.8 (11.7-15.0) 11.6 (11.5-15.5) 11.3 g/dLHematocrit (31.5 - 38.0) 40.6 (35-45) 34.2 (35-45) L 32.00%Platelet (198 - 371) 255 (140-440) 268 (140-440) 228 K cells/uLMPV (7.4 - 8.1) 7.3 fL LRBC (3.85 - 4.75) 4.8 (3.8-5.4) 4.19 (4-5.2) 3.96 M cells/uLMCV (78.2 - 83.9) 81.6 (77-95) 80.8 fLMCH (27.5 - 29.7) 27.7 (27-31) 28.4 pgMCHC (34.4 - 35.8) 33.9 (32-36) 35.2 g/dLRDW (13.0 - 14.2) 12.3 (12-14) 11.9 (11.5-14.5) 12.3 % LHDW (2.69 - 3.15) 2.83 g/dLAbsolute Neutrophil Count (2.77 - 6.34) 2.8 (1.5-8.0) 3.84 (1.8-7) 5.91 K cells/uLAbsolute Lymphocyte Count (1.23 - 2.69) 2.7 (1.5-7.0) 2.9 (1.5-6.5) 1.35 K cells/uLAbsolute Eosinophil Count (0.05 - 0.22) 0.18 (0.1-1) 0.15 K cells/uLNeutrophil/Band (36 - 74) 43.1 (37.0-80.0) 52.1 (54-62) L 75 % HLeft Shift (Absent - ) AbsentLymphocyte (8 - 45) 41.6 (10-58.5) 39.3 (25-50) 17%Monocyte (4 - 8) 4.6 (4.7-12) L 5%Eosinophil (2 - 4) 2.4 (0-3) 2%Basophil (0 - 1) 1.2 (0-1) H 1%Atypical Lymphocyte (0 - 4) 1ASO Titer 0-199 1:2 (400-800) PosParvo B19 IgG <0.9 4.95 PosParvo B19 IgM <0.9 0.10 NegLyme IgG/IgM NegAnti-Nuclear Ab (None Detected - ) <1:40 NegESR (0 - 20) 28 mm/hr H 30 mm/hr HC-Reactive Protein ( - <=0.50) 1.79 mg/dL HBlood Culture Neg or Flora

Radiology studiesX-rays –

• Pelvis: No fracture or dislocation. The femoral head heights and physes are symmetric without abnormal physeal widening.

• Knee: No fracture or effusion

• Tibia: No fracture seen

• Foot: No fracture or joint effusion

Knee ultrasound – normal cartilage about the joint and no effusion

Orthopedics consultation – MRI

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MRI

• Symmetric marrow edema in metaphyses of distal femurs, proximal tibia and fibulas, and subtrochanteric region

• Asymmetric physeal enhancements in the same areas

• Symmetric myositis and synovitis around bilateral knees

• Findings not suggestive of neoplastic, infectious, or infiltrative disease

• Consider scurvy

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Bone Health ClinicProblem List

• Worsening limp x 2 weeks, refusal to bear weight

• Swollen left knee, unable to extend

• Diminished appetite 4 days prior

• Low-grade temp 2 days prior (ED), defervesced

• Autism (limited exam)

• Elevated ESR, CRP

• Abnormal MRI – marrow edema, physeal enhancement, myositis and

synovitis; consider scurvy

DDx

• Nutritional

• Rheumatologic

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More historyHPI –

• Large faint bruise over left anteromedial knee

• Runny nose and bad breadth

Diet – meat and potatoes, cheese, milk; devoid of all fruits and vegetables.

Medications, vitamins or supplements – none

Immunizations - UTD

PMH – autism diagnosed at age 3 (expressive and receptive language and social delays), at baseline very active with normal gait, runs, climbs

• 1 year ago (age 10), dentist noted petechiae on soft palate and lower anterior gingivitis, no caries

FMH – Raynaud’s (mother), scleroderma (MGM), MS (maternal great aunt); thyroid condition (maternal and paternal aunt); no arthritis, hip or spine fractures, multiple fractures, rickets, IBD or celiac disease

SH – lives with both parents, 14 and 16 year old brothers (healthy)

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Growth Curves

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MPTH

Physical exam• Well, non-toxic appearing child. Non-dysmorphic. Normal head, hair,

eyes (white sclerae), nose, lips. Grossly normal dentition, detailed

intraoral exam unable. No goiter. Normal chest, arms and abdomen.

Prepubertal. Non-verbal.

• Musculoskeletal exam – bilateral swollen knees, no warmth, erythema

or pain with palpation (limited) though could not fully extend knees

left greater than right. Took a few steps on toes only.

• Skin – large bruise over anteromedial aspect of his left knee, no other

bruises, petechiae or bony abnormalities.

13

Limp

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Blood tests (Clinic)

4 days prior (PCP) 2 days prior (ED) Bone Health ClinicESR (0 - 20) 28 mm/hr H 30 mm/hr HC-Reactive Protein ( - <=0.50) 1.79 mg/dL H 2.32 mg/dL HSodium (135 - 148) 135 mmol/LPotassium (3.20 - 4.50) 4.16 mmol/LChloride (99 - 111) 97 mmol/L LCO2 (22 - 30) 23 mmol/LAnion Gap (7.0 - 14.0) 15.0 mmol/L HGlucose Level (61 - 199) 90 mg/dL BUN (5 - 18) 16 mg/dLCreatinine (0.3 - 1.0) 0.5 mg/dLCalcium (8.0 - 10.5) 9.5 mg/dLPhosphorus (3.0 - 5.7) 4.6 mg/dLMagnesium (1.5 - 2.2) 2.0 mg/dLAlkaline Phosphatase (40 - 360) 148 unit/LPTH (10.0 - 65.0) <3.0 pg/mL L25-Hydroxy D (30.0 - 80.0) 41.5 ng/mL Vitamin C (23-114 - ) <5 umol/L LZinc (60 - 120) 56 mcg/dL LCopper (85-150) 206 mcg/dL HTSH (0.700 - 5.700) 1.900 mcunit/mLIgG (639 - 1,344) 1,563 mg/dL HIgA (70 - 312) 208 mg/dLIgM (34 - 210) 103 mg/dLCK (4 - 175) 112 unit/L Aldolase (3.3-9.7 - ) 5.1 unit/L Factor VIII Activity (70 - 170) 176 % HAST (2 - 40) 36 unit/LALT (3 - 30) 20 unit/LLDH (110 - 295) 316 unit/L HCalcium, Urine (spot ratio) 3.6 mg/dL (0.27)

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Vitamin C (105 mg)

16IOM

10 days later

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Reference Range 4 days prior (PCP) 2 days prior (ED) Bone Health Clinic 10 days later

ESR (0 - 20) 28 mm/hr H 30 mm/hr H 28 mm/hr H

C-Reactive Protein ( - <=0.50) 1.79 mg/dL H 2.32 mg/dL H 0.46 mg/dL

Vitamin C (23-114 - ) <5 umol/L L 13 umol/L L

Copper (85 - 150) 206 mcg/dL H 175 mcg/dL H

Recommendations:1. Vitamin C treatment until symptoms resolved and adjust to a maintenance

regimen suitable for age2. Multivitamin 3. Nutrition & Child Psychology

1 and 2 weeks later

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Scurvy

• Caused by vitamin C deficiency

• Rare in developed countries, but case reports in children and

adults

• Symptoms relate to essential role of vitamin C in collagen synthesiso Fragile capillaries, resulting in bruising and poor wound healing

o Gums deteriorate and bleed, loss of teeth

o Bone formation is affected

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Bone

• Type 1 collagen – basic building block of bone matrix

• Triple-helical molecule – 2 1, 1 2 polypeptide chains (Gly-X-Y)o X (proline), Y (hydroxyproline)

• Post-translational modifications – stabilize collagen, proper coil, structurally mature scaffolding o Hydroxylation of certain prolyl and lysyl residues – prolyl-3-hydroxylase, prolyl-4-

hydroxylase, lysyl hydroxylase

o Dependent on vitamin C as a cofactor

• Vitamin C is essential to the development and maintenance

of collagen in bone

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Diagnosis

• Low vitamin C level in the blood

Clinical recovery – reversal of symptoms with

vitamin C replacement

21

Treatment

22IOM

Conclusions

• Scurvy is rare, but can occur in individuals with very

restrictive diets (autism)

• This case illustrates some of the clinical symptoms

that can present with this type of malnutrition

• Consider checking a vitamin C level if a patient has

musculoskeletal and vascular complaints

• Vitamin C replacement leads to rapid reversal of

symptoms

23

Thank you

Acknowledgements

Jeannette Perez-Rossello, MD (Radiology)

Patient’s family (videos)

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