Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report on one case of Wolfram syndrome, a rare condition, which is characterized by juvenile onset diabetes mellitus, diabetes insipidus, optic atrophy and sensorineural deafness. The findings of this 13-year follow-up show that this patient developed typical neurological complications of long-standing diabetes mellitus as in the common type 1 variant. Moreover, some peculiar signs occurred such as anosmia, ophthalmoplegia interna, and central nystagmus. Since Wolfram syndrome is probably part of a more generalized neurodegenerative disorder, long-term prognosis will depend both upon the severity of chronic diabetic complications and upon the rapidity, by which degeneration of cerebellar, pontine and brain stem structures appear. Prognosis of the cardinal clinical signs is such that optic atrophy, though usually quite rapid in the beginning, generally does not lead to complete blindness. Sensorineural hearing loss progresses very slowly so that deafness might be expected exceptionally only. The hearing deficit in classical diabetics, however, is of retrocochlear origin. Therefore, in Wolfram syndrome, a combined inner-ear and retrocochlear hearing loss may occur.
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PMID:Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (Wolfram syndrome)--neurological findings and prognostic implications. 185 94

We describe a family consisting of 3 affected men with congenital ichthyosis, anosmia, hypogonadism, nystagmus with decreased visual acuity, strabismus, hypopigmentation of the iris, and mirror movements of the hands and feet. Two of them had limitation of ocular movement and unilateral renal agenesis or hypoplasia. The condition appears to be inherited as an X-linked recessive trait. Clinical, pathological, and biochemical evaluations were compatible with a diagnosis of X-linked ichthyosis. Steroid sulfatase and arylsulfatase C activities in leukocytes and fibroblasts were markedly diminished in the affected patients. Their hypogonadism was due to decreased luteinizing hormone-releasing hormone secretion (hypogonadotropic). Hyposecretion of antidiuretic hormone was also recognized. Chromosome analysis of leukocytes and skin fibroblasts revealed a normal 46,XY male karyotype in all of the patients.
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PMID:A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C. 351 63

We experienced two cases of "Osteosclerosis" who were 12 and 15 year old sisters. Previous reported cases of this disease are 50 cases and among them only one patient was reported in Japan. Osteosclerosis seems to be inherited as an autosomal recessive trait. Parental consanguinity is also observed. The peculiar facies are evident in infancy, characterized by broad, flat nasal bridge, ocular hypertelorism and prognathic, broadened mandible. Commonly, they have cutaneous syndactylies in bilateral hands and feet, especially between the second and third finger and toe. Roentgenographically, hyperostosis with osteosclerosis can be observed in systemic bones, particularly the calvarium is greatly thickened. Since such a bony change occurs most severely at the base of the skull, important clinical symptoms of this disease are cranial nerve palsies resulting from obliterations of unilateral or bilateral several cranial nerve foramina. In many cases deafness due to progressive encroachment upon the middle ear cavities and auditory nerve canals appears early in infancy. Transient palsy of the facial nerve occurs somewhat later, and bilateral facial paralyses are usually permanent in adulthood. In some cases optic atrophy and visual field defect due to compression of the optic nerves are late complications. Other ocular symptoms are strabismus, nystagmus and exophthalmos. Anosmia and trigeminal nerve palsy are less common. Lower cranial nerve symptoms can not be noted but the reason is unclear. Chronic headache, convulsion and mental retardation are occasionally present. They are considered as a result from increased intracranial pressure due to progressive diminution of the cranial capacity. By same mechanism, several patients have died suddenly from impaction of the medulla oblongata in the foramen magnum in early adulthood. Then, some reporter puts emphasis on prophylactic opening of the foramen magnum in all adult cases.
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PMID:[Sibling case of osteosclerosis with cranial nerve symptoms]. 629 11

See-saw nystagmus is a pendular nystagmus with two distinct components: a conjugate torsional component and a disjonctive vertical component. The acquired form of nystagmus is usually seen with parasellar mass and less frequently in head injury or brainstem infarction. Almost all patients with parasellar mass or head injury have associated bitemporal hemianopia. We report the case of a 27-year-old man who developed intermittent daily oscillopsia five years after a severe head injury. On neurological examination, the patient showed a congenital left eye divergence with left eye convergence paresis, an anosmia, a right optic atrophy and a bitemporal hemianopia. Visual acuity was 7/10 and 3/10 for the right and left eyes. The rest of the neurological examination was unremarkable. Electroencephalogram during oscillopsia was normal. MRI revealed bilateral orbito-frontal low signal intensity on T1 weighted images. The brainstem, the diencephalon and the ventricular system appeared to be intact. Eye movement recordings exhibited intermittent see-saw nystagmus. Clonazepam treatment resolved the see-saw nystagmus. Slowly withdrawal of clonazepam was done without return of the see-saw nystagmus.
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PMID:[Intermittent sea-saw nystagmus successfully treated with clonazepam]. 767 33

Wolfram's syndrome, also known as DIDMOAD syndrome, includes juvenile diabetes mellitus and optic atrophy variously associated with diabetes insipidus and deafness. We describe the neurological findings in 5 patients with Wolfram's syndrome. All patients had a neurological examination and were subjected electrophysiological and brain imaging including CT scan and, in one patient, MRI. There were two pairs of brothers and a sporadic case with paternal consanguinity suggesting recessive inheritance. Neurological abnormalities were found in four patients including dysarthria, seizures, anosmia, nystagmus, ataxia and changes in the electroencephalograms, electroretinograms and evoked potentials. In contrast with previous reports, four patients had abnormal brain CT scan with prominent atrophy of the brainstem. In the patient studied with NMR, severe brainstem and cerebellar atrophy was found. These neuroradiological findings are reminiscent of those described in olivopontocerebellar atrophy and are in agreement with previous pathological studies. We conclude that Wolfram's syndrome includes phenotypical manifestations of olivopontocerebellar atrophy. This reinforces the opinion that olivopontocerebellar atrophy is a nonspecific syndrome of varied causes.
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PMID:[Neurologic manifestations in Wolfram's syndrome]. 833 58

A 58-year-old woman developed slowly progressive hearing loss, anosmia, and unsteady gait. She had neither repeated episode of headache nor a past history of neurosurgical operation or head injury. Neurological examination revealed anosmia, moderate degree of sensorineural hearing loss. She showed loss of caloric response bilaterally. No nystagmus was found. Romberg sign was present. No cerebellar ataxia was noted in the finger-to-nose or the heel-to-knee test. No adiadochokinesis was noted. Deep tendon reflexes were increased in both upper and lower extremities. Sensation was intact. She showed disturbance of the righting reflex in the tilt-table examination. CSF were under normal pressure, xanthochromic with siderophages. CSF total protein and ferritin level were elevated. T2-weighted image (TE4000/TR100) of high field strength magnetic resonance imaging (MRI) showed marginal hypointensity of the brain stem, the Sylvian fissures, the tips of temporal lobes, anterior cerebellar surfaces and the entire spinal cord. Angiography of the cerebral vessels and spinal arteries failed to identify the source of bleeding. It seemed likely that she had lost bilateral vestibular and auditory functions caused by hemosidelin deposition to her eighth nerves which are often affected by this disorder. Her disturbance of gait and station was apparently similar to cerebellar ataxic gait, however, she did not have limb ataxia. The electronystagmogram revealed marked degree of vestibular dysfunction (VOR) and relative sparing of cerebellar function (OKN). Her disturbance of the righting reflex in the tilt-table examination and the characteristic feature of her Romberg sign with directional preponderance also indicate that the bilateral loss of vestibular functions, i.e., vestibular ataxia caused her dysequilibrium syndrome. It is our impression that vestibular ataxia might precede cerebellar ataxia commonly reported so far.
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PMID:[A case of superficial siderosis of the central nervous system with bilateral vestibular dysfunction]. 936 92

We investigated the molecular cytogenetic status of two unrelated boys and their family members because they had features consistent with Kallmann syndrome but normal karyotypes. The first patient was a 6-year-old boy who suffered from ichthyosis, bilateral cryptorchidism, hyposmia, and neurologic disorders including mirror movements of the hands and nystagmus. Mild to moderate mental retardation was also noted in this boy, his mother, and maternal grandmother. Fluorescence in situ hybridization (FISH) study using probes for Kallmann (KAL), steroid sulfatase, and ocular albinism type 1 all showed nullisomy on Xp22.3 in this patient, and hemizygosity in his older sister, mother, and maternal grandmother. The second patient was a 1-year-old boy who had micropenis, cryptorchidism, and hypoplastic scrotum since birth. Family study disclosed a 28-year-old maternal uncle with cryptorchidism, lack of secondary sexual characteristics, and anosmia. FISH showed only the KAL gene deletion. Polymerase chain reaction analysis also showed an absence of the KAL-1 sequence. FISH is a useful tool for the detection of KAL-1 deletion in people with normal karyotypes but features consistent with Kallmann syndrome.
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PMID:Detection of KAL-1 gene deletion with fluorescence in situ hybridization. 1044 71

Wolfram syndrome is a rare autosomal recessive neurodegenerative disease; it is characterized by the appearance of diabetes mellitus in childhood associated with bilateral optic atrophy that often leads to blindness. Insipid diabetes, deafness, psychiatric disorders, anosmia, anomalies of the urinary tract, nystagmus, ataxia, and myoclonias are less frequent. We report two cases of Wolfram syndrome, diagnosed in a 12-year-old girl and a 13-year-old boy. In each case, there was a history of diabetes mellitus; they consulted for a progressive loss of vision. Ophthalmologic examination objectified that visual acuity was reduced to finger counting in both eyes as well as isolated bilateral optic atrophy and constriction of the peripheral visual field. Through these two cases and a review of the literature, we propose to study the genetic and clinical aspects of Wolfram syndrome.
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PMID:[Two cases of Wolfram syndrome]. 1764 50

This case reports a 20-year-old female patient who was in northern Italy when the state of emergency was declared on the 31st of January 2020, developing 15days after return to Spain upper respiratory symptoms characterized by fever, headache and anosmia that was treated as sinusitis. Three weeks later presented with dizziness and an intermittent horizontal nystagmus with rotatory component. Otorhinolaryngology and neurological examination including MRI were normal. COVID-19 IgG antibodies where positive. In the context of the ongoing pandemic, and associating the symptoms with positive IgG antibodies, we can consider the infection of SARS-CoV-2 as a probable cause of the acquired nystagmus.
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PMID:COVID-19 presenting with nystagmus. 3327 55