Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It is well known that when the Horner's syndrome is congenital, a defect in pigmentation of the iris is usual; all or part of the iris remains light brown. We reported an adult case of congenital Horner's syndrome with remission and relapse of unilateral ptosis. A 25-year-old man was admitted to our hospital for ophthalmologic surgical treatment of right ptosis. According to the patient's mother, the patient was delivered with the aid of forceps at birth, and the right ptosis was observed during the first few days of his life. At 2 to 3 years of age, his parents noted lighter color of the right eye. The right ptosis was gradually improved as he grew older. However, he developed right ptosis again with left meralgia paresthesia since eighteen age. At age 25 years, he was noted to have right ptosis, right miosis (the left pupil measured 4.5 mm in diameter and the right 3.0 mm), right heterochromia iridis with pigmented iris nevi, and left meralgia paresthesia . Laboratory data of urine, blood and CSF as well as radiological studies of chest X-ray, skull X-ray, spine X-ray, brain MRI and spinal cord MRI showed unremarkable. Sweating test was intact, pharmacologic test to Horner's syndrome with 5% cocaine and 1.25% 1-epinephrine indicated that the damage was pointed to the post ganglionic sympathetic neuron. Ten patients with congenital Horner's syndrome reported in Japan since 1953 were reviewed including our case. Ten of eleven were male and Horner's sign was recorded on the left eye in 8 cases.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An adult case of congenital Horner's syndrome with heterochromia iridis--with special reference to alteration of Horner's sign associated with development]. 269 Nov 67

Cobb syndrome is a rare clinical entity that includes the combination of a vascular skin nevus and an angioma in the spinal canal present at identical dermatomal level(s) (cutaneomeningospinal angiomatosis). To date, 38 cases have been reported, only 18 of which are in adults (> 18 years of age). The majority of these cases have been described in the era predating current neuroimaging techniques, and most authors have assumed that each case involves similar vascular pathology. This report highlights 2 patients presenting with similar thoracic cutaneous vascular nevi yet with markedly differing spinal vascular pathology. A 29-year-old man presented with cutaneous hemangioma and a progressive paraparesis and paresthesia of the lower extremities. A 20 x 20-cm port-wine stain over his right upper midback (T6-10) correlated precisely with MR imaging that demonstrated an enhancing epidural mass between T-6 and T-10 causing compression of the cord and cord edema. A 34-year-old man also presented with progressive myelopathy and a 15 x 20-cm port-wine stain within the same dermatomal region as a Type III spinal arteriovenous malformation. Workup for each patient included pre- and postoperative contrast-enhanced MR imaging with vascular sequencing and spinal angiography. The first patient was treated with bilateral laminectomy at the T6-10 levels, with significant postoperative improvement in motor strength. The second patient underwent coil embolization of an intranidal aneurysm, with follow-up embolization 8 years later. Cobb syndrome is an unusual entity in the adult population and should be considered when there is a constellation of cutaneous manifestation and underlying neurological deficit. The vascular skin nevus associated with Cobb syndrome is accompanied by a wide variety of vascular pathologies.
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PMID:Variety of spinal vascular pathology seen in adult Cobb syndrome. 1944 4