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 review the literature on the oculo-mandibulo-facial syndrome and present the case of a six-year-old boy with congenital cataracts, microphthalmos, nystagmus, failure to thrive, dysmorphic features with a tiny pinched nose, mandibular hypoplasia, microstomia, double chin, chronic snoring, recurrent respiratory infections and dental problems. Chronic obstructive sleep apnoea with decreased oxygen saturation was present. Optimal medical management of OMFS-patients is described.
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PMID:A new look at the management of the oculo-mandibulo-facial syndrome. 159 91

A case of Chiari malformation type 1 with sign of upbeat nystagmus was reported. The patient was a 9-year-old girl who was admitted to the Department of Neurosurgery with the chief complaints of snoring and headaches. The neurological examination on admission revealed a lower cranial nerve disturbance bilaterally and upbeat nystagmus in the primary ocular position that increased in amplitude upon gazing upward, and horizontal nystagmus on gazing laterally. The skull tomogram showed platybasia. The vertebral arteriogram and the pneumoencephalotomogram showed downward displacement of cerebellar tonsils to the level of C2. The patient received suboccipital craniectomy and C1, C2 laminectomy for decompression and the foramen of Majendie was opened. From the operative findings the diagnosis was confirmed as Chiari malformation type 1. In the first two postoperative weeks, the upbeat nystagmus as well as other symptoms was gradually improved. It was therefore considered that the responsible lesion of the upbeat nystagmus in this case might be in the lower brain stem or the inferior vermis due to mechanical compression or circulatory disturbance.
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PMID:[A case of up-beat nystagmus associated with Chiari malformation type I (author's transl)]. 744 31