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)

A case, a 18-year-old male, of an endodermal sinus tumor (yolk sac tumor) in the fourth ventricle, was reported. The patient had a month history of headache, vomiting and gait disturbance prior to the hospitalization, when he admitted to our service he was in lethargic condition with left cerebellar ataxia and horizontal nystagmus. Lumbar tap revealed clear CSF under normal pressure of 110 mm H2O with the CSF protein of 432.5 mg/dl and cell count of 147/3. The vertebral angiography demonstrated space occupying lesion in the posterior fossa. Plain CT demonstrated only disappearance of the fourth ventricle and slightly dilated bilateral ventricles and third ventricle. However diffuse high density area around the fourth ventricle was demonstrated and the wall of bilateral anterior horn was slightly enhanced, after injection of contrast media. There was no other abnormal findings around the pineal region. Suboccipital craniectomy was performed and the tumor was totally removed macroscopically. The tumor was situated in th floor of the fourth ventricle and infiltrated into the fourth ventricular wall and th adjacent cerebellar tissue. The tumor was with soft, greyish color and extremely vascular. Histologically the tumor was diagnosed as endodermal sinus tumor according to Teilum's classification. There were stellate cells arranged in a loose with vacuolated network which formed cystic cavities and a complicated network of honeycomb appearance with a system of communicating cavities and channels. Various size of intra- and extracellular PAS-positive hyaline globules were also seen. Glomerular-like structure (Schiller-Duval body) was not observed. Immunoperoxidase study clearly demonstrated the presence of intra- and extracytoplasmic alpha-fetoprotein granules in the tumor tissue. The amount of the serum alpha-fetoprotein, measured by radioimmunoassay, showed 400 ng/ml. After irradiation in the posterior fossa (5000 rad) the patient was discharged. Three months later, follow up CT demonstrated small high density area in the anterior horn of the left lateral ventricle, so he was rehospitalised. Irradiation in the whole brain was again administered. The tumor was very radiosensitive. CT, after 800 rad, demonstrated complete disappearance of the tumor. After irradiation totally (3000 rad), he discharged with left cerebellar ataxia.
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PMID:[Primary endodermal sinus tumor of the fourth ventricle (author's transl)]. 616 17

A 20-year-old man presented with diplopia. Neurological examination revealed mild skew deviation and upbeat nystagmus. Computed tomography showed a clover-shaped isodense mass in the pineal region with homogeneous enhancement. The lesion was isointense on both T(1)- and T(2)-weighted magnetic resonance (MR) imaging with homogeneous enhancement by gadolinium-diethylenetriaminepenta-acetic acid. Cerebral angiography showed no tumor staining. Serum and cerebrospinal fluid were negative for beta-human chorionic gonadotropin, alpha-fetoprotein, and placental alkaline phosphatase. Open biopsy was performed using a right occipital transtentorial approach. Histological examination revealed a tumor consisting of clusters of germinoma cells, but with prominent infiltration of lymphocytes, plasma cells, and macrophages, and proliferation of small vessels. The histological diagnosis was germinoma with granulomatous reaction. MR imaging showed complete disappearance of the tumor after chemoradiotherapy. Neurosurgeons should be aware of this rare tumor to avoid misdiagnosis as granulomatous inflammation.
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PMID:Pineal Germinoma with granulomatous reaction: case report. 1612 61

Ataxia with ocular apraxia type 2 (AOA2) is an autosomal recessive, early onset ataxia caused by mutations in the senataxin (SETX) gene. Ocular apraxia and increased levels of alpha-fetoprotein are characteristic but not obligate markers of the disease. AOA2 is allelic with ALS4, a motor neuron disorder of early onset and autosomal dominant inheritance. We observed a two generation family with ataxia which started at age 14 and 17 in two sibs and at age 23 in their paternal uncle.Oculomotor disturbances included strabismus, saccadic pursuit and gaze evoked nystagmus. MRI revealed severe cerebellar atrophy. All patients presented pronounced peripheral neuropathy with wasting of hand and leg muscles resembling distal motor neuronopathy. Increased alphafetoprotein levels triggered genetic analyses of SETX. We found the sib pair to be compound heterozygous for a single base deletion c.2835delC, resulting in a frameshift mutation and causing nonsense related mRNA decay, and a base exchange c.6106G > A, resulting in abnormal splicing and skipping of exon 15. The similarly affected uncle was homozygous for the c.6106G > A mutation probably due to distant consanguinity in the paternal branch of the family. Pseudodominant occurrence in two generations has not been described before in AOA2 and led, in this family, to false categorization as dominant ataxia before SETX mutations were detected. Clinically this family presented with a phenotype combining typical features of AOA2 and ALS4; thus extending the phenotypic spectrum of SETX mutations.
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PMID:"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). 1835 Mar 59