Author | Atiya Khan, MD

Articles

Photoclinic: Scaphocephaly

September 01, 2006

This 9-month-old infant was brought for evaluation of anteroposterior elongation of the cranium. The infant was born at term via uncomplicated vaginal delivery. His mother had noticed that his head was more elongated and narrower than his sibling's. He had achieved appropriate motor and social milestones for his age. Neither parent had a family history of abnormal head shape. The rest of the examination findings were unremarkable.

Photoclinic: Schizencephaly

August 01, 2006

The adoptive parents of an 11-month-old infant noticed that their son did not use his right arm as often as the left. Concern for brachial plexus injury was raised. Antenatal, natal, family, and early developmental history were unknown.

Photoclinic: Cephalhematoma

July 01, 2006

A male neonate was born at 39 weeks' gestation by vertex vaginal delivery with focal swelling of the head. Vacuum extraction and forceps were not necessary for delivery. The mother had no complications during labor. Apgar scores were 7 and 9 at 1 and 5 minutes, respectively. A cephalhematoma was suspected when the fluctuant parietal swelling did not transilluminate.

Photoclinic: Lesch-Nyhan Syndrome

May 01, 2006

This 14-year-old boy has Lesch-Nyhan syndrome. The picture shows chronic scarring of the lip--a result of self-mutilating behavior that characterizes this syndrome. Lesch-Nyhan syndrome is also characterized by dystonia, choreoathetosis, and mental retardation--all of which are associated with hyperuricemia, write Arvind Vasudevan, MD, and Atiya Khan, MD, of Morgantown, WVa. This X-linked recessive abnormality of the long arm of the X chromosome (Xq26) causes a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in the brain, liver, and red blood cells.1 In the United States, this condition may be as rare as 1 in 1.2 million.2 Because of the mode of transmission, this disorder affects males primarily; however, cases involving females have been reported.1 Partial variants of the syndrome involving decreased, but not entirely absent, levels of HGPRT also have been identified.2