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December 1968

Picture of the Month

Author Affiliations

Boston; Burbank, Calif; Umea, Sweden
From Burbank, Calif (Dr. Reed), and the University of Umea Medical School, Umea, Sweden (Dr. Heijer).

Am J Dis Child. 1968;116(6):653-654. doi:10.1001/archpedi.1968.02100020657013

Denouement and Discussion 

Sjögren-Larsson Syndrome  (Congenital Ichthyosis With Spastic Paralysis and Oligophrenia)

Manifestations  The major manifestations include congenital ichthyosis, spasticity, and mental retardation. Chorioretinal pigmentary and degenerative changes may be present and ocular hypertelorism occasionally is noted. There is nonbullous congenital ichthyosis of the skin most prominent in the flexural areas of the extremities. Also present are moderate scaling of the palms and soles without involvement of the scalp, hair, or nails; lichenification of the flexural areas, axillae, neck, and trunk; deficiency of perspiration; and abnormal dermatoglyphics.Central nervous system involvement includes congenital cerebral spastic diplegia affecting first the legs and then the arms. It is usually nonprogressive after the age of 5. The deep tendon reflexes become hyperactive; ankle clonus and an extensor plantar response appear; and seizures develop. There is a marked mental retardation.Less frequent findings include widely spaced teeth, enamel hypoplasia, speech defects, and shortened metacarpals