Orthopedics - Oleksa A.P. 2006

Pathophysiology of Joints
Developmental Defects and Congenital Skeletal Anomalies
Pfaundler-Hurler Syndrome (Gargoylism)

Pfaundler-Hurler disease (enchondral dysostosis multiplex or gargoylism) is the most severe form within this group of systemic disorders, which are occasionally inherited in an autosomal recessive manner.

Unlike the previously described types of enchondral dysostosis, this condition is characterized not only by the aforementioned features but also by profound pathological changes in Internal Organs and metabolic disturbances. Affected children suffer from intellectual disability and marked skeletal deformities. The Heart is affected, The Liver and Spleen are enlarged, and characteristic signs such as corneal clouding and deafness are also present. In most cases, children with gargoylism die shortly after birth or within the first few months of life. Those who survive exhibit the same musculoskeletal abnormalities as described in the preceding type of dysostosis.

Pfaundler-Hurler dysostosis (Fig. 64) is typically characterized by macrocephaly, a low hairline on the forehead and temples, widely spaced eyes (hypertelorism), and occasional strabismus. The eyebrows are usually overhanging, the bridge of the Nose is depressed (saddle nose), and the ears are set somewhat low. The Mandible protrudes forward, while the Maxilla is underdeveloped. The Lips and Tongue are enlarged. Due to pathological changes throughout the body, metabolic processes are severely disrupted. Overall, this is an exceptionally severe and progressive condition.

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Fig. 64. Enchondral dysostosis of the Pfaundler-Hurler type (gargoylism) (Sturm, V.A., 1968).

Diagnosis of the First and Second types of enchondral dysostosis can be challenging and is sometimes misconstrued as an atypical form of Achondroplasia.

Children with dysostosis are born with normal body proportions and no external signs of the disease. It is only as the child grows that the typical clinical and radiographic features of enchondral dysostosis gradually develop and manifest. These include disproportionate dwarfism, where the deformed limbs are longer relative to the shortened, deformed spine—whereas in achondroplasia, the length of the spine exceeds that of the significantly shortened limbs.

Diagnostic difficulties may arise when radiographic Changes in the growth plate—characteristic of achondroplasia—are detected in patients with dysostosis. Additionally, a progressive Kyphosis is sometimes mistaken for spinal tuberculosis. Only a comprehensive and thorough evaluation allows for an accurate diagnosis.

Treatment for enchondral dysostosis is not pathogenetic; however, The Use of general tonics, stimulants, and a well-balanced vitamin-rich diet can help improve osteogenesis to a certain extent and potentially halt the progression of the disease spontaneously.

Children are prescribed massages, Therapeutic Exercises (physiotherapy), and corrective splints or limb braces to prevent The Development of contractures and deformities. Somatotropin or methylandrosterone may also be administered to stimulate bone growth.

If limb deformities and axial malalignment cannot be prevented, surgical intervention becomes necessary. Corrective osteotomies can help restore the static and dynamic function of the limbs to a certain degree.

Obviously, successful treatment cannot be expected in severe forms of enchondral dysostosis. Limb and spinal deformities, even those occurring in Morquio-Brailsford dysostosis, impair functional and work capacity despite treatment. Furthermore, children with the Pfaundler-Hurler type (gargoylism) who survive remain profoundly disabled and unable to care for themselves.