A 24 year-old severely retarded, hyperactive woman with a long history of foul smelling discharge from the nasal fossae, requiring removal under general anesthesia of foreign material (rocks, crayon, cotton, paper) on 9 separate occasions by an ENT surgeon, is reported from my own practice records in Chicago. The cumbersome term, polyembolokoilomania, has been applied to this behaviorism. The patient was referred from a residential home center where she was placed at 16 years because of violent and destructive behavior, eccentric habits, insomnia, refusal to eat, and self-injurious behavior, including body bruising and insertion of foreign bodies in her nose. She had occasional minor seizures. Her IQ was <20 on the Stanford-Binet. She did not speak but giggled frequently, often had a blank stare, and sometimes appeared catatonic. Her facial features were not dysmorphic. Attention to a visual object was poor. Hearing was intact. Her gait was uncoordinated, she was hypotonic and could not hop, but she had learned to swim. Deep tendon reflexes were hypoactive and plantar responses flexor. EEG showed a 8-9 Hz/sec basic rhythm, excess theta and low-voltage-fast activity, but no epileptiform discharges. CT scan was normal. Birth was normal, she walked late at 2 years, and never talked intelligibly. An older brother was normal; a paternal aunt was retarded. She had a febrile seizure at 2 years and minor partial seizures controlled with phenytoin up to 9 years. EEGs had shown bilateral independent spikes in temporoparietal areas. Chromosome examination revealed 46,XX, r(22), with ring 22 chromosome present in all cells. Fragile X was absent. Improvement followed behavioral modification and use of signs for communication. [1]

COMMENT. Syndrome-specific behavioral phenotypes receive increasing attention in the literature, and the proposal that certain stereotypic behaviors are pathognomonic of a distinct syndrome requires further examination. The above case report is presented to demonstrate that one form of self-injurious behavior, involving repeated insertion of foreign bodies in the nose or other bodily orifices, may be common to ring 22 syndrome and the 17pll.2 deletion syndrome of Smith-Magenis.

Ring 22 syndrome is characterized by severe mental retardation, often associated with muscular hypotonia, poor coordination, hyperactivity and aggressive behavior, and rarely seizures. Facial features are not consistently dysmorphic but may include epicanthal folds, bushy eye-brows and long lashes, broad nasal bridge, high-arched palate, clinodactyly and syndactyly, More than two thirds are female. The above case report emphasizes the indication for chromosomal analyses in girls with severe mental retardation and self-injurious behavior, despite the absence of facial dysmorphism.