Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Trichothiodystrophy is characterized by sparse, short, sulfur-deficient hair. Numerous symptom complexes have been described in which the hair abnormality represents a constant feature. We report a boy with trichothiodystrophy, ichthyotic skin changes, onychodystrophy, chronic neutropenia, osteosclerosis, hypothyroidism, nystagmus, growth and mental retardation, and microcephaly, who developed a progressive encephalopathy with ataxia and optic atrophy at 2.5 years of age. In addition to a deficient cystine level identified on a hair sample, a disturbance in the composition of other amino acids was present. Although features were reminiscent of osteosclerosis, ichthyosis, brittle hair due to trichothiodystrophy, impaired intelligence, decreased fertility, and short stature (SIBIDS) and could represent a variant of this disorder, findings in our patient may reflect a new trichothiodystrophy symptom complex that carries a poor prognosis for survival beyond childhood.
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PMID:Trichothiodystrophy and associated anomalies: a variant of SIBIDS or new symptom complex? 834

Masses in the posterior fossa may be divided into extra-axial and intra-axial lesions. Because of its multiplanar capabilities, improved soft-tissue resolution and contrast, and the absence of scanning artifacts related to the osseous skull base, which are frequently present on CT, MRI is the imaging modality of choice in evaluating lesions arising in the posterior fossa. It is the best means of critically localizing lesions and determining the extent of disease. Analysis of the signal characteristics of a lesion on multiple different imaging sequences (T1-weighted, T2-weighted, and enhanced images) may provide information about the tissue constituents within a mass/neoplasm, such as the presence of cellularity, necrosis, and hemorrhage. MRI is also useful in guiding localization for brain tumor biopsies and assists in planning radiation therapy. However, CT also plays an important role. CT is frequently the first imaging study performed in patients with posterior fossa masses who often present with nausea, vomitting, ataxia, and other signs of increased intracranial pressure. It is a quick, available, and relatively inexpensive study to assess neurological emergencies including hydrocephalus, hemorrhage, and herniation syndromes. In addition, it frequently provides complimentary information, such as the presence of calcification or bony remodeling (osteosclerosis or osteolysis), which MRI is less sensitive in detecting.
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PMID:Imaging features of posterior fossa neoplasms in children and adults. 1023 5

A 60-year-old man with progressive gait ataxia and mild pyramidal signs showed at MRI a pontine lesion with post-contrast enhancement in the left middle cerebellar peduncle. Diagnosis of Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis, was suggested, further supported by a previously diagnosed retroperitoneal fibrosis. X-ray films demonstrated characteristic bilateral and symmetric osteosclerosis of the long bones of the lower limbs, which at radionuclide studies exhibited a marked increase in technetium-99 uptake. A cerebral 18FDG-PET showed a relevant pontine uptake of the tracer. Re-evaluation of a past retroperitoneal biopsy showed an intense CD68+, CD1a-, and S100- infiltrate of histiocytes with foamy cytoplasm, thus confirming the diagnosis. ECD should be regarded as a rare cause of adult-onset sporadic ataxia, especially when pontine lesions and extraneurological manifestations are present.
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PMID:Late-onset sporadic ataxia, pontine lesion, and retroperitoneal fibrosis: a case of Erdheim-Chester disease. 1881 Jun 2