Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The patient was a 52-year-old woman who was initially admitted to our hospital with a recent history of diplopia, ptosis and visual impairment on the right, adding to 6 years history of the right orbital pain and temporal headache. She had gradually developed pain and fatigue of the right knee since childhood and had been suffered from multiple subcutaneous tumor in the both hands and the right foot from youth onward. On neurological examination, she has had right exphthalmos and 3rd and 6th cranial nerve palsies on the right. Skull X-ray and CT scan showed parasellar calcified mass on the right. In chromosome examination, the inversion of the No. 1 chromosome was disclosed by the Q- and C-band dyeing of her leucocytes and skin culture. Cavernous hemangioma of her skin lesion and enchondroma of the skeletal lesion were diagnosed by X-ray examination and histological specimen, indicating so-called Maffucci's syndrome. One year and a half later, she was readmitted to our institution, because of progressive visual loss on the right and left hemiparesis. Malignant change of the parasellar lesion was suspected by the clinical course and neuroradiological findings and was confirmed histologically by the second peration. During postoperative course, intratumoral hemorrhage had occurred twice and the patient died, and postmortem examination confirmed her clinical affair. This is the case which was clarified malignant transformation of enchondroma in the parasellar region, and is the first case verified the chromosome abnormalities in Maffucci's syndrome.
 ...
PMID:[Maffucci's syndrome with intracranial manifestation and chromosome abnormalities--a case report]. 370 42

We report a case of a 13 year old boy with non-familial, multiple blue rubber bleb nevi (BRBN). He also had additional dysmorphic anomalies including a low hairline, low set ears, narrow nares, ptosis, hypotelorism, a high arched palate and downward slanting of the outer canthi. Skeletal deformities included a short, slightly webbed neck, kyphosis, cubitus valgus, non-traumatic luxation of the head of the right radius and a short left little and index fingers. He had no evidence of gastrointestinal lesions or bleeding, congenital heart or renal disease or enchondromata. The boy was mentally slow compared to his peers. He had normal chromosomes. The absence of gastrointestinal bleeding or iron deficiency anaemia is inconsistent with Bean's syndrome and the lack of enchondromata in this patient militates against the diagnosis of classical Maffucci syndrome. Some of his physical features are obviously similar to those observed in a Noonan's syndrome yet the presence of extensive BRBN would be an extremely unusual finding. Since the overall picture does not fit into any of the classical categories mentioned above, the constellation of his features has yet to find a specific syndrome. It may, however, represent an overlap between them or, possibly, a new syndrome.
 ...
PMID:A patient with extensive blue rubber bleb nevi associated with multiple congenital anomalies: an overlap or a new syndrome? 1456 63