A Bizarre Gait as a Result of Overlapping Functional Disorder With Coffin–Lowry Syndrome

Abstract

Coffin-Lowry syndrome (CLS) is a rare X-linked disorder with variable clinical presentation, including growth retardation, facial and skeletal dysmorphic features, sudden drop episodes, epilepsy, and different degrees of intellectual disability. Females tend to be mildly affected. Movement disorders in CLS are common and disabling, but the genotype-phenotype correlations have been difficult to establish. To our knowledge, the gait pattern in this syndrome has never been discussed. We present a 21-year-old woman, first child of nonconsanguineous white parents. Pregnancy and delivery were uncomplicated. There was no family history of intellectual disability, skeletal abnormalities, or recurrent miscarriages. No history of central nervous system infections or febrile seizures was reported. Psychomotor delay was noticed at the age of 18 months. At the age of 3 years, she developed a complex gait disturbance, accompanied by multiple episodes of unprovoked sudden falls, with increasing frequency and without loss of consciousness. At the age of 7 years, she developed tonic asymmetric nocturnal daily motor seizures. The neurological examination was unremarkable. The gait was bizarre, with retrocollis movements, abnormal generalized posturing, stereotypies (she touches her hair and wipes her nose), and transient loss of tone in inferior limbs. (Video segment 1).