Boucher Neuhauser syndrome
Overview
Boucher-Neuhauser syndrome (BNHS) is an autosomal recessive disorder, which is very rare and characterized by spinocerebellar ataxia, eye abnormalities and a failure of the pituitary to stimulate gonadal development during puberty.
Symptoms
- Progressive ophthalmic symptoms
- Hypogonadotropic hypogonadism characterized by reduced hormone production by testes and ovaries
- Spinocerebellar ataxia
- chorioretinal dystrophy characterized by visual impairment (not always present)
Causes
Boucher-Neuhauser syndrome (BNHS) is caused by homozygous or compound heterozygous mutation in the PNPLA6 gene (603197) on chromosome 19p13.
Diagnosis
The wise clinician should consider a neurologic referral at the outset. If there is vertigo, tinnitus, or deafness, then an audiogram and caloric testing should be done. If these suggest eighth nerve damage, then a CT scan or MRI of the brain should be done. Headaches, sustained nystagmus, or papilledema are other indications for a CT scan or MRI. If multiple sclerosis is suspected, MRI of the brain is very useful, as well as spinal fluid for gamma globulin and myelin basic protein. Perhaps VEP, brain stem evoked potential (BSEP), or SSEP studies should be done. If vascular disease is suspected, magnetic resonance angiography will allow assessment of the vertebral-basilar arteries. If this is not available, four-vessel cerebral angiography may be utilized. Patients with hypoactive reflexes and glove and stocking hypoesthesia and hypalgesia will need a neuropathy workup . When there is ataxia in the presence of a normal neurologic examination, referral to a psychologist for psychometric testing should be done.
Treatment
- Specific symptomatic measures to improve gait stability and efficiency may improve functional abilities –Assistive devices (e.g., canes, walkers, wheelchairs) –Orthotics (e.g., ankle-foot orthoses for foot drop) –Physical therapy
- Removing intoxicating substances if present
- Orthopedic pathologies may be resolved by rest, casting or orthotics, NSAIDs, or surgical therapy
- Peripheral neuropathy/mononeuropathy: Treat the underlying cause to improve gait or prevent worsening
- Radiculopathy: Physical therapy, medications (e.g., NSAIDs, muscle relaxants), local injection therapies (e.g., epidural injections), and/or surgical intervention
- Myelopathy: Treating the underlying cause may improve or prevent worsening of gait; spasticity may be treated with antispasticity agents (e.g., baclofen)
- Structural lesions of the brainstem, cerebellum, or cerebrum should be identified and treated if possible (e.g., multiple sclerosis)