Infantile spasms in COFS syndrome.
Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies. A term female infant with COFS syndrome who developed infantile spasms at the age of 3 months is reported. The patient had a good response to intramuscular ACTH with disappearance of infantile spasms and resolution of the hypsarrhythmic pattern on electroencephalography succeeded by a slow, synchronous pattern. Modified hypsarrhythmia returned after ACTH therapy was discontinued. Infantile spasms have not previously been reported in association with COFS syndrome and are a potentially treatable aspect of the disease. This patient may add to the clinical spectrum of COFS syndrome or may have a variant.
Department of Neurology, New York Medical College, NY 10029.
C L
CL
Harden
A J
AJ
Tuchman
M
M
Daras
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D001177:Arthropathy, Neurogenic / Q000503:physiopathology; D001921:Brain / Q000002:abnormalities*; D004569:Electroencephalography; D005124:Eye Abnormalities / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000503:physiopathology; D013036:Spasms, Infantile / Q000209:etiology* / Q000503:physiopathology; D013577:Syndrome