Ophthalmologic Findings in a Patient With Cerebellar Ataxia, Hypogonadotropic Hypogonadism, and Chorioretinal Dystrophy

Salvador, Francisco; García‐Arumí, José; Corcóstegui, Borja; Minoves, Teresa; F, Tarrus

doi:10.1016/s0002-9394(14)72612-1

Cited by 16 publications

(7 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The Boucher-Neuhauser syndrome (OMIM 215470) is composed of spinocerebellar ataxia, hypogonadotrophic hypogonadism, and chorioretinal dystrophy. [4][5][6][7][8][9][10][11][12] There are several distinguishing features between our reported patients and previous reports of Boucher-Neuhauser syndrome. First, the ataxia is spinocerebellar in the Boucher-Neuhauser syndrome, though the spinal component was not always mentioned, 10 whereas in our patients the ataxia was purely cerebellar.…”

Section: Discussionsupporting

confidence: 54%

Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?

Jbour¹

2003

Journal of Medical Genetics

View full text Add to dashboard Cite

A number of syndromes have been described in which hypogonadotrophic hypogonadism is associated with multiple somatic and neurological anomalies such as tall stature, anosmia, ataxia, mental retardation, and choroidal dystrophy. [1][2][3][4][5][6][7] The large number of syndromes indicates the considerable clinical heterogeneity associated with hypogonadotrophic hypogonadism. In this report, we describe an unusual constellation of neuroendocrinological findings in an Arab family with three affected sibs. A major finding is hypogonadotrophic hypogonadism associated with short stature owing to gonadotrophic and somatotrophic cellular dysfunction in the anterior pituitary. Although, we discuss several possible modes of inheritance, we speculate that the mode of inheritance of this disorder in this family is autosomal recessive. PATIENTS, MATERIALS, AND METHODSThe family was ascertained through the proband VI.5 (fig 1). All three seemingly affected family members had a detailed evaluation by an endocrinologist, a neurologist, a clinical geneticist, and an ophthalmologist. Three of the four older sibs were examined by the same team and were reported to be normal. The three affected subjects also had electrocardiograms, echocardiograms, brain and pituitary MRI, electromyography, nerve conduction studies, electroretinograms, and electro-oculograms.Patient 1 (VI.5) This male patient is currently 21 years old. He was the product of a 35 week gestation born by normal spontaneous vaginal delivery. At birth, he developed respiratory distress requiring neonatal intensive care for about 6 weeks. He achieved the early milestones of development on time but there is no available record for his growth pattern during the early years.The onset of symptoms was gradual with a slowly progressive ataxic gait around the age of 6 years, which was associated with a progressive decline in his scholastic performance. He presented to us at the age of 20 years, and his height was 1.45 m (<5th centile), weight was 39 kg (<5th centile), and head circumference was 50.5 cm (>2 SD below the mean). He had mild non-progressive bilateral ptosis, and the genital examination showed an infantile penis, small testes, and sparse pubic hair. He had no dysmorphic features or obvious anomalies in the skeletal or cardiovascular systems. He showed evidence of mild impairment of cognitive function (Weschler intelligence scale: verbal IQ 69, performance IQ 47, and full IQ 54). Scanning, dysarthric speech, and multidirectional jerky nystagmus were present. While the saccadic eye movement was abnormal with bilateral hypometric saccades, pursuit eye movement was normal and he had no visual complaints.The neurological evaluation showed normal muscle bulk, without wasting or fasciculations, normal strength throughout, and generalised hypotonia. The deep tendon reflexes were +2 and symmetrical, with a flexor plantar reflex. There were no sensory abnormalities on deep or superficial evaluation. Dysmetria, past pointing, dysdiodochokinesia, and intentional tremors were ...

show abstract

Section: Discussionsupporting

confidence: 54%

Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?

Jbour¹

2003

Journal of Medical Genetics

View full text Add to dashboard Cite

show abstract

“…These include problems associated with activation of the receptor such as G-protein coupling, glycosylation, or second messenger activation. It is noteworthy that Boucher-Neuhauser syndrome is characterized by the same symptoms as Gordon Holmes syndrome, with the addition of chorioretinal atrophy [38]. Recently, GnRH has been implicated in normal eye development in the zebrafish model [39].…”

Section: Discussionmentioning

confidence: 99%

The Gonadotropin-Releasing Hormone Type I Receptor is Expressed in the Mouse Cerebellum

et al. 2008

View full text Add to dashboard Cite

Gonadotropin-releasing hormone (GnRH) is a decapeptide hypothalamic hormone that was named according to its first discovered function--at the head of the neuroendocrine reproductive axis. Numerous other organ systems express GnRH and/or its receptor, although a specific physiological role for GnRH outside of the reproductive axis has yet to be established. Several studies in lower vertebrates have reported GnRH and/or its receptor in the cerebellum. Here, we describe the presence of immunoreactive GnRH receptors in the Purkinje cells of the mammalian cerebellum for the first time. This study provides compelling anatomical evidence for a common link between the cerebellum and the hypothalamo-pituitary axis. Dysfunction of this link occurs in the rare genetic ataxia disorders--Gordon Holmes syndrome and Boucher-Neuhauser syndrome.

show abstract

“…However, the diagnosis may be difficult to establish when visual complaints occur in a prepubertal child or when they appear before the neurologic symptoms 11. The Boucher-Neuhäuser syndrome should be included in the differential diagnosis of patients with chorioretinal degeneration, particularly if there are neurologic or endocrinologic manifestations.…”

Section: Discussionmentioning

confidence: 99%

Ophthalmologic Findings of Boucher-NNeuhä Syndrome

Kim

Lee

et al. 2008

Korean J Ophthalmol

View full text Add to dashboard Cite

To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa at the age of 12 years. His puberty was delayed. At 16 years of age, the patient experienced progressive deterioration of his balance and gait disturbance. Then he was referred to our clinic because Boucher-Neuhäuser syndrome was suspected. He had no specific family history; his visual acuity was 0.04 in both eyes. We observed broad retinal pigment epithelium atrophy and degeneration in both fundi. Both fluorescein and indocyanine green angiography showed choriocapillaris atrophy in the posterior pole area and midperiphery. Macular optical coherence tomography showed thinning of the neurosensory retina. An electroretinographic examination showed no photopic or scotopic responses. The Boucher-Neuhäuser syndrome should be included in the differential diagnosis of patients with retinitis pigment epithelium atrophy and degeneration.

show abstract

Ophthalmologic Findings in a Patient With Cerebellar Ataxia, Hypogonadotropic Hypogonadism, and Chorioretinal Dystrophy

Cited by 16 publications

References 10 publications

Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?

Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?

The Gonadotropin-Releasing Hormone Type I Receptor is Expressed in the Mouse Cerebellum

Ophthalmologic Findings of Boucher-NNeuhä Syndrome

Contact Info

Product

Resources

About