Coffin Lowry Syndrome
Care management for individuals with Coffin-Lowry syndrome is symptomatic, supportive and based is what is known of Coffin-Lowry syndrome.
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Individuals with CLS should be monitored for progressive kyphoscoliosis (reported to occur in 80% of patients) and pectus carinatum/excavatum (in 80% of patients), and progressive kyphosis/scoliosis, which can become life-threatening if the cardiorespiratory system becomes compromised. A sensorineural hearing defect is reported in 30% of the individuals. A cardiac evaluation, with attention to mitral valve dysfunction and cardiomyopathy, is recommended. 10 % suffer from a sudden loss of muscle tone induced by unexpected tactile or auditory stimuli. The events are usually not associated with impairment of consciousness. |
Anti-epileptic medications, such as clonazepam, may be used to treat drop attacks, although little is known about the effect of such a treatment. Some persons with CLS suffer from epilepsy.
Reference:
Coffin Lowry Syndrome, 2010
The natural history of spinal deformity in patients with Coffin-Lowry syndrome, 2018
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome, 2015
Coffin Lowry Syndrome
Coffin Lowry syndrome is a rare genetic disorder characterized by
- mental retardation;
- abnormalities of the head and facial (craniofacial) area;
- large, soft hands with short...
