CASE PRESENTATION

Juvenile Arthritis in Turners Syndrome

Kelvin A. Barry Pediatrics Rotation #8 March 20, 2003

Juvenile Rheumatoid Arthritis

Unknown etiology Most common form of childhood arthritis and one of the more common chronic childhood illnesses. For a majority, the immunogenetic associations, clinical course, and functional outcome are quite different from adult-onset RA. Rheumatoid factor is positive in these patients Prevalance in US has been estimated to be between 57 & 113 per 100,000 children under the age of 16 years.

Juvenile Rheumatoid Arthritis

Clinical Features Diagnostic criteria for JRA: disease onset at younger than 16 years old Persistent arthritis in one or more major joints for at least six weeks Presence of swelling, effusion, limitation of motion, tenderness, pain on motion, or joint warmth The three subtypes of JRA include: systemic onset, polyarticular onset, and pauciarticular.

Turners Syndrome
Chromosomal disease common in females that affects many body systems. Absence of all or part of one sex chromosome, the Xchromosome (45 XO karyotype) Associated with autoimmune conditions including thyroid disease, inflammatory bowel disease, and diabetes Increased risk for autoimmune diseases has been documented in Turner's syndrome Present in one in every 2,500 female babies

Turners Syndrome
Clinical Features At birth: webbed neck, swollen feet, horse shoe kidney Short stature is a consistent finding in Turner's Syndrome cause is multifactorial, including intrauterine growth retardation, gradual decline in height
velocity in childhood, absence of pubertal growth spurt and to end organ resistance resulting from skeletal dysplasia

Patients with Turner's Syndrome have abnormal body proportions characterized by

markedly shortened lower extremities

Sexual infantilism (failure to mature sexually) More than 90% of females with Turner's Syndrome have underdeveloped ovaries

Turners Syndrome
Clinical Features (contd)

Children with Turner's Syndrome may have: congenital lymphedema, low posterior hair line, webbed neck, prominent ears, high arched palate, micrognathia, broad chest, cubitus valgus, multiple pigmented nevus, abnormal finger nails, intestinal telangiectasia and hypoplastic nipples Cardiovascular anomalies are common and the most clinically frequent is coarctation of the aorta Echocardiographic studies however, showed non-stenotic bicuspid aorta valve might be
the most common cardiovascular lesion in Turner's Syndrome

increased frequency of chronic lymphocytic thyroiditis and diabetes mellitus or carbohydrate intolerance

CASE STUDY
A thirteen year old female presents with mother, complaining of right ankle pain secondary to a two and a half year old ankle sprain where she tore her anterior tibial fibular ligament. Patient states that pain is present when walking and playing, and has made participating in gym difficult. Patient refers to the pain as an achy and is alleviated by rest; she states that she also gets swelling. Mother states that prescribed pain medication has also helped relieve the pain. Patient has been receiving hydrotherapy intermittently for approximately 2 years. Mother also states that child has been treated for a ganglion on the dorsal aspect of the right foot. PMH: Turners Syndrome, Juvenile Rheumatoid Arthritis PSH: Mother denies MEDS: Naprosyn 250mg bid PRN, Notropin 10mg, Famoxeline 20mg Allergies: NKDA, NKFA

CASE STUDY

Mother presents a binder with all of the patients medical visits for treatment and diagnostic studies of JRA and TS over the years. Mother goes on to state that patient has been experience knee pain with swelling, and also that the pain in ankles started after patient began growth hormone therapy last summer.

CASE STUDY

Physical Exam
vascular status is intact with warm foot and instant capillary filling time neurological status is intact no skin changes; no edema present, no erythema present adequate ankle and subtalar joint ROM with mild pain on passive ROM of ankle and subtalar joint bilaterally Hip ROM reveals greater external than internal range of motion WB exam reveals moderate pes valgus-- there is significant rearfoot valgus bilaterally Also revealed are genu valgum and a flexible forefoot equinus Gait Exam reveals genu valgum, out-toe gait

CASE STUDY

Diagnosis
Right ankle arthralgia associated with Juvenile Rheumatoid Arthritis

Plan
Requested that mother return with X-ray reports Also requested that mom bring in rheumatology report Patient to continue OTC ankle support for use during the day RTC 1 month

References
Arthritis foundation: Juvenile Rheumatoid Arthritis and Juvenile Spondyloarthropathies. Primer on the Rheumatic Diseases Ed. 12: 534-542, 2001. Wihlborg CE, Babyn PS, Schneider R: The Association Between Turners Syndrome & Juvenile Rheumatoid Arthritis. Pediatr Radiol Sep; 29(9): 676-681, 1999. Zulian F, Schumacher HR, Calore A, Goldsmith DP, Athreya BH: Juvenile Arthritis In Turners Syndrome: A Multicenter Study. Clin Exp Rheumatol Jul-Aug; 16(4): 489-494, 1998