Boucher-Neuhäuser syndrome (BNS) is an extremely rare condition. The syndrome was first described in 1975 by Neuhäuser and Opitz. The triad of symptoms are spinocerebellar ataxia, hypogonadotropic hypogonadism (no development of secondary sexual characteristics) and choroidal dystrophy. Boucher and Gibberd first reported these primary symptoms in 1969. The neurological syndrome is poorly recognized by doctors. The condition is hereditary and is caused by a gene mutation.
- Epidemiology Boucher-Neuhäuser Syndrome
- Causes and heredity BNS
- Symptoms: Eye abnormalities, hypogonadism and ataxia
- Diagnosis and examinations
- Treatment of condition
- Prognosis
Epidemiology Boucher-Neuhäuser Syndrome
There is little scientific literature regarding the prevalence of BNS. Several dozen patients have been reported so far. Men and women are equally affected by the syndrome.
Causes and heredity BNS
The syndrome is inherited in an autosomal recessive manner. A mutation in the PNPLA6 gene is the cause of Boucher-Neuhäuser syndrome.
Symptoms: Eye abnormalities, hypogonadism and ataxia
The triad of symptoms are spinocerebellar ataxia (progressive balance and coordination problems), hypogonadotropic hypogonadism (no development of secondary sexual characteristics) and choroidal dystrophy (also known as chorioretinal dystrophy). Most patients develop one or more symptoms in the first decade of life.
Ataxia
Cerebellar ataxia is variable and the first signs usually present during adolescence or early adulthood. The ataxia is slowly progressive and is sometimes accompanied by other neurological symptoms such as intention tremor and speech problems. Sometimes there are other brain lesions and a range of neurological symptoms appear: peripheral neuropathy (damage to nerves with pain, weakness, numbness and tingling, especially in the hands and feet) / mononeuropathy (nerve damage to one nerve), myelopathy, radiculopathy (disorder with pinched nerve in spinal column), …
Hypogonadism
Hypogonadism is evident during puberty because secondary sexual characteristics do not develop: lack of libido, infertility and reduced hormone production by the testes. In women, there is reduced hormone production by the ovaries. Menstruation does start, although it may be delayed (primary amenorrhea).
Eyes
The onset of visual symptoms occurs in patients between the ages of 10 and 60. It is different for everyone when and how the vision problems manifest themselves. A patient experiences progressive vision loss due to choroidal dystrophy (degeneration of the choroid) and photophobia (medical term for “photophobia”), although choroidal dystrophy is not always present. The eye condition has a highly variable rate of progression.
Diagnosis and examinations
Diagnosing this syndrome is difficult. Sometimes the eye diagnosis is retinitis pigmentosa and the doctor does not think further about a possible syndrome in combination with walking problems and delayed puberty. The doctor sees a diffuse atrophy of the cerebellar hemispheres via a CT scan or MRI scan. The ophthalmologist will perform an ERG (electroretinography), which provides evidence of rod and cone dysfunction.
Treatment of condition
Since there is no proven effective treatment, it is mainly symptomatic and supportive. In addition, the symptoms of each patient are examined separately.
An occupational therapist works on balance and stability and tries to improve functional skills. A number of aids help the patient to gain more mobility: walking stick, walker or wheelchair. Physiotherapy is also indicated. A doctor treats the underlying cause of peripheral neuropathy / mononeuropathy and myelopathy or prevents the conditions from worsening, for example by prescribing medication. A speech therapist works on any speech problems. Muscle relaxants, physiotherapy, an epidural injection and possibly anti-inflammatories or surgery improve the radiculopathy. In addition, treatment of any structural lesions of the brainstem, cerebellum, or brain is required, for example in multiple sclerosis (chronic neurological autoimmune disorder). Regular ophthalmological examination is further recommended to continue monitoring the deterioration of the choroids. A visually impaired person can use all kinds of low vision aids to move through life independently. For aids, adjustments, guidance and other tips, he can go to a low vision center or to an aftercare work for the blind.
Prognosis
The prognosis of progressive Boucher-Neuhäuser syndrome has not been described in scientific literature. There are no data available regarding mortality.
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