pseudorheumatoid
TRANSCRIPT
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