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Martin J. Herman.
Department of
Orthopedic Surgery, St. Christopher’s Hospital for Children
Introduction:
Prader-Willi Syndrome (PWS) is a chromosome 15 disorder characterized by
hypotonia, hypogonadism, hyperphagia and obesity. Musculoskeletal
manifestations, including scoliosis, hip dysplasia and lower limb alignment
abnormalities, are well described in the orthopedic literature. However, care of
this patient population from the orthopedic surgeon’s perspective is complicated
by other clinical manifestations of PWS. Osteopenia, psychiatric disorders, and
diminished pain sensitivity are frequently noted in PWS but are not discussed in
the orthopedic literature. The authors present a clinical review of an 8-year
experience caring for 31 patients with PWS to highlight all clinical concerns
that influence orthopedic management.
Methods:
Thirty-one
institutionalized patients diagnosed with PWS were examined and all past medical
records were reviewed. Patient demographics, genetic testing, musculoskeletal
diagnoses, psychiatric diagnoses, and clinical behaviors were recorded.
Radiological studies performed in the course of routine clinical care were
evaluated.
Results:
Twenty-two
men and 9 women, average age 22 years (range 8-39 years), were studied. A
chromosome 15Q abnormality was confirmed in 18 patients. Scoliosis was
clinically detected in 24 of 31 patients and confirmed by radiographs in 14 of
these 24 patients (45% overall with scoliosis) with an average primary curve of
31°;
three were braced and 2 underwent spinal fusion. Radiographs also revealed
diminished cervical lordosis and increased cervicothoracic kyphosis in 16
patients, a previously undescribed finding. Hip radiographs of 26 patients
revealed dysplasia in 2 patients (13%); no SCFEs were identified. Fourteen
patients had sustained a total of 58 fractures with 6 patients sustaining
multiple fractures (range 2-7). Bone densitometry was performed on 14 patients;
8 patients had osteopenia and 4 had osteoporosis based on lumbar spine Z-scores.
Twenty-six patients had axis I psychiatric diagnoses including impulse control
disorder (7) organic personality disorder (6) oppositional defiant disorder (5)
dysthymic disorder (4) depressive disorder NOS (3) ADHD (2) and OCD (2). Nine
patients exhibited self-mutilating behaviors. Six patients have undergone
orthopedic surgical procedures with 1 major complication (spinal infection).
Fracture management was associated with frequent minor complications.
Discussion:
Osteopenia,
poor impulse control and defiant behaviors, and diminished pain sensitivity are
aspects of PWS that may complicate all facets of orthopedic non-surgical and
surgical management in this patient population. The treating orthopedic surgeon
must plan carefully and proceed with caution when treating children and adults
with PWS.
(Abstract
from the 2003 PWSA (USA) Scientific Conference in Orlando, FL)
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