Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022568 (keratitis)
 5,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a new case of non-familial dysautonomia. The patient was a boy with no known Jewish ancestry in whom psychomotor retardation in early infancy failed to lead to specialized evaluation. Regressive episodes of ataxia developed at the age of three and infrequent generalized seizures occurred between four and seven. Diagnosis was first considered at the age of seven after neuroparalytic keratitis developed and rapidly became bilateral. This case has remained highly unusual throughout the course since none of the commonly reported complications (swallowing disorders, aspiration pneumonia, and dysautonomic "attacks") has occurred. No life-threatening manifestations have developed. Peripheral nerve biopsy specimens showed that myelinated fibers, especially of large diameters, were abnormally scarce, and that the histogram failed to exhibit the normal bimodal aspect. Ultrastructural studies also disclosed a marked reduction in the caliber of unmyelinated fibers, whose axons were flattened or occasionally missing. No evidence of regeneration was found. The atypical clinical features in our patient are discussed.
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PMID:[Dysautonomia. A clinical study of a case, ultrastructural data]. 236 47

A 4 year old girl presented with keratitis and ataxia. Over the next two months she developed profound hearing loss, arthritis, and polychondritis. A diagnosis of Cogan's syndrome was made. The literature on the condition is reviewed and the importance of early diagnosis to prevent hearing loss is highlighted.
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PMID:Cogan's syndrome: a rare systemic vasculitis. 794 43

A 10-year-old boy with palmoplantar hyperkeratosis and keratitis was reported. His physical development was normal and mental development was lower limit. He had also convulsions with low grade fever several times, and his EEG showed paroxysmal discharges. The plasma levels of phenylalanine and tyrosine were 5 to 10 times higher than those of controls. Tyrosinemia II was diagnosed on the low level of cytosol tyrosine aminotransferase in biopsied liver. The cases of tyrosinemia II were reviewed on the symptoms of the central nervous system. Two of twelve cases had convulsions. Adult cases demonstrated nystagmus, tremor, ataxia, and convulsion. Hyperkeratosis and corneal lesions were characteristic in symptoms of tyrosinemia II, but attention should be paid to the symptoms of the central nervous system.
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PMID:[A case of tyrosinemia type II with convulsion and EEG abnormality]. 826 Feb 11

During a 3-year period, 25 caudalis dorsal root entry zone (DREZ) operations were done for severe, facial pain. Intraoperative brainstem recordings were done before and after DREZ in all patients. Primary diagnosis included refractory trigeminal neuralgia, atypical headaches or facial pain, posttraumatic closed head injuries, postsurgical anesthesia dolorosa, multiple sclerosis, brainstem infarction, postherpetic neuralgia and cancer-related pain. At the time of discharge, good to excellent pain relief was present in 24/25 patients and fair relief in 1. At 1 month, 19/25 (76%) patients had good to excellent results and at 3 months following surgery, 17/25 (68%) continued to have good to excellent pain relief. One year following surgery, 18 patients could be evaluated, 12/18 (67%) still considered their relief as good to excellent, 2 fair and 4 poor. Transient postoperative ataxia was present in 15/25 patients (60%), but was largely resolved at 1 months. In 3/18 (17%) patients, a degree of ataxia was still present at 1 year although in none was it disabling. Two patients had transient diplopia, and 3 had increased corneal anesthesia with 1 later developing a keratitis. No surgical or postsurgical mortality was noted. This procedure has proven to be a satisfactory treatment for many patients with debilitating facial pain syndromes with acceptable morbidity.
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PMID:The caudalis DREZ for facial pain. 971 11

We report five children with previously unrecognized vestibular dysfunction detected by clinical examination and confirmed by quantitative vestibular testing. Patient 1 presented with fluctuating visual acuity and intermittent nystagmus. Patient 2 had congenital hearing loss associated with imbalance, delayed motor development, and cyclic vomiting. Patient 3 had neurotrophic keratitis with an intermittent head tilt, imbalance, and motor delays. Patient 4 showed ataxia and eye movement abnormalities following traumatic brain injury and had reading difficulties. Patient 5 had episodic vertigo and eye movement abnormalities from infancy. Clinical vestibular testing emphasized spontaneous nystagmus, rapid head thrust, and assessment of post-rotatory nystagmus. Quantitative vestibular testing included the sinusoidal chair rotation and velocity step tests, measurement of dynamic visual acuity, post-head-shake nystagmus, and computerized platform posturography. Pediatric neurologists encounter children with congenital and compensated vestibular dysfunction, which can be recognized on the basis of relevant history and clinical abnormalities of the ocular-ocular reflex.
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PMID:Congenital and compensated vestibular dysfunction in childhood: an overlooked entity. 1697 Aug 46