Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III

Abstract

Mucolipidosis Type III, or pseudo-Hurler polydystrophy, is a rare genetic abnormality, the result of a mutation to one of two genes that encode the hexameric protein N-acetylglucosaminyl-1-phosphotransferase (Glc-NAc-PT). The abnormality results in the accumulation of unprocessed macromolecules in cell and tissue compartments throughout the body. In this case report, we describe the clinical and radiographic findings of a 15-year-old male with this disorder. He presented with bilateral ectopically developing mandibular molar teeth with enlarged follicles and multiple joint involvement, including the temporomandibular joints. The patient underwent surgical removal of the molar teeth and curettage of the associated follicles. The subsequent histopathological examination of the tissues revealed hyperplastic follicles suggestive of dentigerous cysts. This report presents the plain film and cone beam CT examinations of the patient.

Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology

“…Patients usually present between two and four years of age with symptoms referable to the joints. [4][5][6] The typical clinical symptoms include short stature, cardiac valve involvement, normal intelligence or mild mental retardation, normal corneal appearance or steaminess of the cornea, and scoliosis and skeletal and orthopedic complications including hand and shoulder stiffness, claw-hand deformities, short iliac wings, erosion of the femoral heads, dysostosis multiplex of the vertebral bodies, long bones, skull, phalanges and clavicles with no to mild organomegaly. [3][4][5][6][7] Cardiopulmonary complications are the usual reasons of mortality in patients with ML III.…”

“…Prenatal diagnosis is possible by assay of the enzyme in cultured amniocytes or chorionic villus cells or by molecular genetic analysis. [5][6][7][8] Due to the manifestations in the skeletal system and involvement of joints in ML, the first application should be to the clinics of pediatric rheumatology. Family history, consanguinity, lack of pain and inflammation are key points to consider for the diagnosis of this rare disease.…”

“…The differential diagnosis of ML II or III is based on the age of onset, clinical findings and degree of severity. 4,5 In this article, we present four pediatric patients with joint stiffness and diagnosed as ML III or pseudo-Hurler polydystrophy with characteristic radiographic findings to attract attention to this rare entity in pediatric rheumatology. abnormal vertebral bodies with anterior vertebral beaking on the lateral cervical radiogram and chest X-ray demonstrated short and thick clavicles ( Figure 2).…”