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)

Metachromatic leukodystrophy (MLD) is a neurodegenerative disorder with autosomal recessive inheritance, in which cerebroside sulphate (sulphatide) accumulates in the central and peripheral nervous systems due to a deficiency of arylsulphatase A. This article presents a 2-year-old boy who had occasional shortness of breath, horizontal nystagmus and unstable gait for 3 months prior to the entry. He was admitted to our hospital due to shortness of breath, frequent apnea, generalized hypotonia and conscious disturbance. The lumbar puncture, brain CT scan, serum amino acid analysis, urine organic acid assay and nerve conduction velocity of lower extremities all showed negative findings. The electron microscopic finding of muscle elicited lipid deposition. The auditory brainstem response showed bilateral impairment. The routine EEG revealed diffuse slow waves. The brain MRI showed widespread low signals over the white matter of bilateral frontal and parietotemporal areas of the cerebral hemispheres, as well as the white matter of the bilateral cerebellar hemispheres, and the brain stem in the T1-weighted image corresponding the high signals in T2-weighted image. The blood leukocyte lysosomal enzyme activity test revealed arylsulphatase A deficiency. Rapid progressive neurological deterioration was noted since admission. Unfortunately, the patient expired due to respiratory failure in the final.
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PMID:Late infantile form metachromatic leukodystrophy: report of one case. 129 37

Thymomas are relatively uncommon malignancies of the anterior mediastinum and present with four distinct histological types based on the specific epithelial to lymphocyte ratio: spindle cell, epithelial predominant, lymphocyte predominant, or mixed. Each histologic type of thymoma has a propensity for local invasion and metastasis and can have a wide variety of paraneoplastic manifestations, myasthenia being the most common. We present a unique case of a 34-year-old African-American female who initially presented with a history of profound weakness with repetitive motion, shortness of breath, horizontal nystagmus, persistent anemia, keratoconjunctivitis sicca, and what was initially thought to be azithromycin-induced hepatitis. Upon left anterior thoracotomy with biopsy of the mediastinal mass, pathology yielded a lymphocyte-predominant (B1), Masaoka stage IVA invasive thymoma with pericardial extension. This case illustrates the clinical significance of considering a multitude of extrathymic paraneoplastic manifestations, each with a unique physiological mechanism.
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PMID:Polyparaneoplastic Manifestations of Malignant Thymoma: A Unique Case of Myasthenia, Autoimmune Hepatitis, Pure Red Cell Aplasia, and Keratoconjunctivitis Sicca. 2874 21