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Infantile spasms in COFS syndrome
C L Harden1, A J Tuchman, M Daras
1Department of Neurology, New York Medical College, NY 10029.
Insights
Cerebro-oculo-facial-skeletal syndrome, a rare genetic disorder, is associated with infantile spasms in a reported case. Treatment with ACTH effectively managed the spasms and EEG abnormalities.
Area of Science:
- Genetics and rare diseases
- Pediatric neurology
- Clinical case reports
Background:
- Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare autosomal recessive disorder.
- It is characterized by microcephaly, microphthalmia/cataracts, neurogenic arthrogryposis, and congenital anomalies.
Observation:
- A term infant diagnosed with COFS syndrome developed infantile spasms at three months of age.
- The patient exhibited hypsarrhythmia on electroencephalography (EEG).
Findings:
- Intramuscular ACTH therapy led to the disappearance of infantile spasms.
- EEG showed resolution of hypsarrhythmia, replaced by a slow, synchronous pattern.
- Spasms and modified hypsarrhythmia recurred upon discontinuation of ACTH therapy.
Implications:
- Infantile spasms represent a potentially treatable aspect of COFS syndrome.
- This case expands the known clinical spectrum of COFS syndrome or suggests a variant.
- Highlights the importance of recognizing and treating infantile spasms in COFS patients.
Abstract:
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.