Moebius syndrome and hydrosyringomyelia: description of a new association.

The diagnosis of Moebius syndrome, a rare congenital disorder, is primarily based on congenital facial and abducent nerve palsy. Involvement of other cranial nerves is also common. Occasionally the V, X, XI, and XII cranial nerves are involved, resulting in a difficulty to chew, swallow, and cough, which often leads to respiratory complications. Mental retardation and autism have been reported in some cases. Moebius syndrome can be associated with orofacial anomalies and limb malformations. The authors describe a patient with a confirmed diagnosis of Moebius syndrome associated with hydrosyringomyelia. No case of Moebius syndrome involving primarily the spinal cord has been reported so far. This patient did not present with other factors directly linked to syringomyelia.

Sjögren-Larsson syndrome: phenotypic variability in two brothers with a neurocutaneous disorder.

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessively inherited neurocutaneous disorder caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. It is characterized by an unusual combination of cutaneous and neurologic signs and symptoms. The authors describe two brothers of consanguineous parents with SLS, one of whom was born from a dizygotic twin pregnancy (with an apparently normal sister), and they focus on the variability of the clinical findings of the syndrome even among siblings and twins.

The ICF-CY perspective on the neurorehabilitation of cerebral palsy: a single case study.

Starting from the case of a 12-year-old boy with dyskinetic (athetoid-dystonic subtype) cerebral palsy, the authors apply the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) of the World Health Organization (WHO) as a comprehensive documentation tool to guide the pathway of care and illustrate a multidisciplinary and interdisciplinary neurorehabilitation team approach. The ICF-CY provides a common and universal language for describing and measuring health and disability in the first 2 decades of life. Despite the fact that this is a single case design, the authors consider it useful for the identification of an ICF-CY core set for the description of children with cerebral palsy. The results of this single case study are preliminary and need to be tested in a large trial of children with cerebral palsy.

Os odontoideum as a rare but possible complication in children with dyskinetic cerebral palsy: a clinical and neuroradiologic study.

The authors describe a 12-year-old boy with dyskinetic (athetoid-dystonic subtype) cerebral palsy and os odontoideum. Dystonic and choreoathetotic components in cerebral palsy are movement disorders that are difficult to treat and cause major disability. Dystonic posturing causes excessive flexion, extension, and rotation of the neck. Repetitive abnormal movements in patients with this type of cerebral palsy give rise to a higher incidence of pathologic conditions affecting the craniovertebral junction. Os odontoideum is one of these pathologies, and it represents a rare anomaly of the odontoid process. There are only a few reports describing os odontoideum in children with dyskinetic cerebral palsy. This clinical and neuroradiologic study focuses on the problem of atlantoaxial instability and os odontoideum in these forms of cerebral palsy, which is too often underestimated.