Pseudorheumatoid

Dr.S.Nivedita

DNB PG,

Railway Hospital.

8 yr old girl First born of second degree cons. marriage

Presents with h/o progressive restriction of joint movements

progressive difficulty in walking - 4yrs

Difficulty in getting up from sitting position- 3yrs

Difficulty in climbing stairs - 2yrsWidened joints and child gets up by supporting her hands on knees - recent onset

h/o inability to form a fist – recent

onset

Not growing in height- 1yr

Good in studies

With normal appetite and sleep

Antenatal ,Neonatal period uneventful.

Developmental milestones normal.

Family h/o: brother also affected with same disease progression.

No other family members affected

Taking adequate calories & protein. Belong to upper socioeconomic class

Conscious, alert & active. No pallor, icterus, clubbing, cyanosis, edema, lymphadenopathy.

Vitals : Normal Anthropometry : weight : 21.8kg(25thpercentile) ofc : 49.5 cm normal on erect posture hands almost touch the knees.

Short neck

Dentition normal

Harrison sulcus seen

Lordosis present

Ul & LL muscles, Thenar and

introssei wasting and

contractures seen

Widening of both major and minor

joints seen

coxa-vara and genu valgum seen Flat foot seenMovements of all joints restrictedNo skin manifestationsNails normalNo pain or tenderness of any muscle group / joints.

Waddling gait present.Other systems normal.

The widening and

fixed flexion

deformity of the MCP

& IP joints of the

hands gave claw

hand like

appearance.

Prominence of pip & dip joints

Juvenile rheumatoid arthritisSpondylo epiphyseal dysplasia congenita

Spondylo metaphyseal dysplasia congenita

pseudoachondroplasia

CBC : normalSr.Calcium :9.8 mg/dlSr.Phosphorous :3.2 mg/dlAlk phosphatase:248CPK : 108rheumatoid factor and antinuclear

antibodies were negative. ESR : 11 mm fall in first

hour .

Xray spine – AP n Lat View

•Ant. Erosion of vertebreal body

•platyspondyly

•Tongue like projection in the ant end

•Inter vertebral space normal

Tongue like projection

Fish mouth

Progressive pseudo

rheumatoid chondrodysplasia

Both the children are currently undergoing physiotherapy

Progressive pseudorheumatoid

chondrodysplasia – AR inherited

skeletal dysplasia

First described by Spranger et al

Distinct osteochondrodysplasia with

defined clinico-radiological features

and genetic patterns.

a primary disorder of the joint cartilage- non-inflammatory chondropathy

Early onset of cartilage loss is a very important element in the pathogenesis of the disease

Presents between three and eight years

Features :pain, kyphoscoliosis,easy fatigability, muscular

weakness, progressive restriction of joint movement and swelling at several joints.

Joint stiffness affects the hips, progressively involves the other joints, including the proximal and distal interphalangeal joints.

Incidence unknownchromosome 6q22-mutations in the CCN (CTGF, cyr61/cef10, nov) family member WISP3 are associated

CCN gene family encodes cysteine-rich secreted proteins with roles in cell growth and differentiation, essential for normal postnatal skeletal growth & cartilage homeostasis

The characteristic radiographical features :

narrow joint space with wide metaphyses

and flat epiphyses,

Osteopenia/ osteoporosis

enlarged femoral heads with irregular

acetabular margins.

Spinal abnormalities include

platyspondyly with erosion of the

endplates, narrowing of intervertebral disc

spaces

juvenile rheumatoid arthritis -bony changes show joint space narrowing, over-growth of epiphyses and osteopenia

spondyloepiphyseal dysplasia congenita- extremities are normal;

spondyloepiphyseal dysplasia tarda -patient has a characteristic dorsal hump, Premature osteoarthritis of hip jts, the peripheral skeleton is unaffected and the interphalangeal joints are normal

spondylo-metaphyseal dysplasia -epiphyses are not affected and joint stiffness is not present.

Pseudoachondroplasia - disproportionately large trunk with shortening of limbs, hypermobile joints , arthosis of hips and knees, mild scoliosis and shortened long bones

Spinal abnormalities mimic those of Scheuermann’s disease.

Scheuermann’s disease presents at puberty whereas in PPRC, spinal abnormalities appear before the age of ten years.

Management : Comprehensive orthopedic management for the malformations.

No particular treatmentCrippling diseaseCan become wheel chair bound in few decades

Am J Med Genet. 1983 Feb;14(2):399-401. Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis –first case.

J Med Genet. 1997 July; 34(7): 559–563. Progressive pseudorheumatoid dysplasia: report of a family and review. 6 subjects from same jordan family

Singapore Med J C a s e R e p o r t 2007; 48(5) : e151 reported a case of 26yrs old woman with Progressive pseudorheumatoid chondrodysplasia & synovial osteochondromatosis of glenohumeral and knee joints

3 cases reported in indian pediactrics j.

Indian Jpediatrics. 1990.Nov-Dec;57(6):785. Progressive pseudorheumatoid chondrodysplasia simulating juvenile rheumatoid arthritis affecting 4 members in same muslim family was presented by

Archik SG, Kamat RD.

Indian J Pediatr. 1999 May-Jun;66(3):455-60. Progressive pseudorheumatoid arthropathy of childhood presents a 11 year-old girl was diagnosed as having PPAC at Ege University, Faculty of Medicine, Department of Paediatrics.

Indian Pediatrics 2001; 38: 93-96 Department of Pediatrics and Radiology,* Army Hospital (R&R), Delhi Cantonment 110 010, India presents an 11-year-old girl