Patterson syndrome

Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as Donohue Syndrome (also known as Leprechaunism).

Patterson syndrome
Other namesPseudoleprechaunism syndrome, Patterson type
Named afterJoseph Hanan Patterson

It is named for Dr. Joseph Hanan Patterson.[1] It was described by Patterson and Watkins in 1962.[2] The pathogenesis and cause of the Patterson syndrome was unknown until 1981.[3]

Signs and symptoms

Patterson syndrome is characterized by the patient's having an unusual facial look, similar to that caused by Leprechaunism. It primarily affects the connective tissue and the neuroendocrine system, giving rise to bronzed hyperpigmentation, cutis laxa of the hands and feet, bodily disproportion, intellectual disability, and major bony deformities. Radiographs reveal a characteristic generalised skeletal dysplasia.

It comprises endocrine abnormality, hyperadrenocorticism, cushingoid features, and diabetes mellitus. One other case has shown premature adrenarche.

Cause

References
  1. Zach Samson (July 1, 2006). "Dr. Patterson, influential past president of AAP Georgia Chapter". AAP News. 27 (7): 39. Retrieved 2008-03-24.
  2. PATTERSON JH, WATKINS WL (1962). "Leprechaunism in a male infant". J. Pediatr. 60 (5): 730–9. doi:10.1016/S0022-3476(62)80100-0. PMID 14484402.
  3. David TJ, Webb BW, Gordon IR (1981). "The Patterson syndrome, leprechaunism, and pseudoleprechaunism". J. Med. Genet. 18 (4): 294–8. doi:10.1136/jmg.18.4.294. PMC 1048735. PMID 7277424.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.