Lowry Yong syndrome

Overview

A rare syndrome characterized by a small head, rapid involuntary eye movements (nystagmus) and abnormal development of the ends of long bones where growth occurs.

Symptoms

* Small birth size * Small head * Multiple epiphyseal dysplasia * Rapid involuntary eye movements * Short stature * Mental retardation * Square iliac bones * Flattened acetabula

Causes

* Mental retardation - see all causes of Mental retardation * Rapid involuntary eye movements - see all causes of Eye twitching * Short stature - see all causes of Short stature * Small head - see all causes of Small head

Diagnosis

The basic diagnostic workup includes visual acuity, visual fields, audiogram, caloric testing, and x-rays of the skull, mastoids, and petrous bones. If these are negative or indefinite, a CT scan or MRI of the brain will be necessary. A spinal fluid analysis will help diagnose central nervous system lues and multiple sclerosis. A BSEP or VEP study may be needed to diagnose multiple sclerosis. The help of a neurologic specialist should be sought before ordering expensive diagnostic tests. Cisternography, tomography, and vertebral basilar angiography are occasionally necessary to establish the diagnosis. Magnetic resonance angiography is an excellent noninvasive means of visualizing the vertebral-basilar circulation.

Treatment

* Treat the underlying etiology if possible * Remove offending medications/toxins if possible * Medications to treat the nystagmus (e.g., meclizine for BPV) have varying success * BPV: Otolith repositioning maneuvers (Epley's, Semont's) * Botulinum toxin injection to the appropriate extraocular muscles may be used for severe disabling nystagmus * Congenital nystagmus: Maximize vision by refractive lenses, treat amblyopia (“lazy eye”) if indicated, prism, and/or eye muscle surgery * Vestibular: Vestibular suppressant (meclizine, diazepam), vestibular adaptation exercises * Baclofen may be useful in periodic alternating nystagmus and some congenital nystagmus * Clonazepam for downbeat nystagmus