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A case of hemihypertrophy associated with multiple anomalies of the skin, bone and visceral organs is presented. A 31-year-old female was admitted for evaluation of her skin conditions. Her family history is noncontributory, while her past history discloses operations for syndactyly of the right foot, tonsillar hypertrophy, anal prolapse and ovarial cyst. Erythemas of the face and the left upper extremity were noticed during the neonatal period and hypertrophy of the right side of the body started at age 2 months. On admission, hemihypertrophy was observed in the face, trunk and extremities. Multiple faint nevi flammei were seen on the right half of the face and on the left side of the trunk and extremities. Telangiectasis and nevus anemicus were seen in the upper chest. The left upper extremity showed diffuse brown patches that was histologically basal pigmentation with some giant melanosomes. Visceral anomalies consisted of fibromatous tumors of the tip of the tongue and mitral prolapse. Angiography and computed tomography revealed a possible arteriovenous malformation of the right occipital region, small hemangiomas around the patella, dilation of the lateral ventricle, and calcification of the choroid plexus. Tortuous superficial veins were noted in the right leg. She had no seizure, but her IQ was 68. The bone disorders consisted of scoliosis, short forth metacarpus, hypoplastic mandible and peroneal exostosis. Examination revealed a slight diminution of urinary corticosteroid, but no other endocrinological disorders were found. The hemihypertrophy in this case is at least partially due to an arteriovenous shunt, suggested by elevated oxygen saturation of the blood obtained from the internal saphenous vein.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Congenital hemihypertrophy associated with cutaneous pigmento-vascular, cerebral, visceral and bone abnormalities]. 282 Feb 92

A 61-year-old woman is presented with a bilateral total ophthalmoplegia as an initial ocular symptom, caused by a midbrain hematoma. She complained of acute headache, nausea, vomiting and bilateral closure of her eyelids. Examination on admission showed meningeal irritation; mild consciousness disturbance; bilateral total ophthalmoplegia; left hemiparesis; ataxia in all extremities, more marked to the left. Computed tomography demonstrated a small hematoma in the midbrain tegmentum. Angiography demonstrated midbrain arteriovenous malformation, and she was treated conservatively. Abduction of both eyes and adduction of the left eye appeared on the next day of the ictus, and after that, improved gradually. Left ptosis had improved since one week after the ictus. Light reflex of the left pupil had seen 5 days after the ictus. At the same time, the left pupil revealed an oval-shape. Right internal ophthalmoplegia continued to exist. One year later, the right eye deviated externally, and the left deviated inferio-medially. Abduction of both eyes was normal. Infraduction of both eyes was seen, but limited on the left. Upgaze paresis remained unchanged, and adduction of the right eye was absent. Adduction of the left eye showed almost full recovery. There was right complete ptosis, but left ptosis became indefinite. These ocular findings indicated typical right oculomotor paresis plus superior rectus paresis of the left eye, which suggested a destructive lesion in the right oculomotor nucleus. Also, her left extremities showed a hemiparesis as a pyramidal tract sign (Weber's syndrome) and an ataxia as a cerebellar sign (Claude's syndrome).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Midbrain arteriovenous malformation causing bilateral total ophthalmoplegia as an initial ocular symptom--a case report]. 337 Jan 70

The 3p- syndrome (terminal deletion of the short arm of chromosome 3 with breakpoint at 3p25) was found in the G-banded karyotypes from an undergrown and developmentally retarded 13-month-old girl with a distinct pattern of congenital abnormalities. Features present in the patient and characteristic of the 3p- syndrome included low birthweight, brachy-trigonocephaly, a high and narrow forehead with a prominent metopic suture, epicanthic folds, upslanting palpebral fissures, ptosis, depressed nasal bridge, anteverted nares and a small mandible. She lacked postaxial polydactyly of fingers and toes which is present in about half of the so far reported about one dozen 3p- cases, but she showed an anteriorly placed anus. The deletion was overlooked at a first routine cytogenetic examination. At a later clinical evaluation of the patient, the suspicion of the 3p- syndrome was raised and the aberration found at revision of the old karyotypes. The importance of a good information flow between clinicians and cytogeneticists is stressed.
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PMID:Terminal deletion of the short arm of chromosome 3, del(3pter-p25): a recognizable syndrome. 344 53

An 18-year-old girl developed a reversible locked-in state with bilateral ptosis and almost complete ophthalmoplegia. She later presented with a relapsing and remitting course suggestive of multiple sclerosis. Autopsy findings demonstrated bilateral capsular and tegmental demyelinating lesions. In addition to this unusual aetiology, this is the first report with pathological evidence of a locked-in syndrome due to lesions outside the ventral brainstem.
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PMID:Reversible capsulo-tegmental locked-in state as first manifestation of multiple sclerosis. 368 27

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.
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PMID:[Maffucci's syndrome with intracranial manifestation and chromosome abnormalities--a case report]. 370 42

A 21-year old women taking oral contraceptives suffered thromboembolic stroke associated with mitral valve prolapse. She had been using an unspecified oral contraceptive for 3 months postpartum, and had smoked a pack a day for 5 years. She complained of sudden right orbital headache, left-sided weakness and pain. Clinical exam showed left sided anopsia, facial paralysis, tongue protrusion, parietal sensory deficit, and loss of position sense. Computed tomography suggested a lesion near the right middle cerebral artery; and cerebral angiography revealed an 8 x 2 mm filling defect in that artery. A midsystolic click without a murmur was evident in the cardiac exam. Thickened, redundant mitral valve leaflets with marked prolapse, and a mass on the atrial side of the posterior leaflet appeared on the echocardiogram. The atrial thrombus was considered the source of the apparent embolism in the cerebral artery. Oral contraceptives have been found to increase the risk of thrombotic stroke and venous thromboembolism. Therefore, women with known mitral valve prolapse or leaflets may be advised not to use the pill.
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PMID:Embolic stroke in a woman with mitral valve prolapse who used oral contraceptives. 374 65

A case of solitary neurinoma of oculomotor nerve is reported. A 40-year-old female had a sudden headache with nausea and vomiting in January, 1978. She complained of diplopia and right ptosis two months later and visited a neurosurgical clinic, but radiological examination was told to be normal. Headache and right ptosis diminished, but diplopia continued. She was admitted to our clinic on Aug. 30, 1984, complaining of diplopia and right ptosis which were noticed only when she was tired. On admission, she had no neurological deficits except for right oculomotor nerve palsy. There was no cutaneous manifestation of von Recklinghausen's disease. Plain skull radiogram and angiogram showed normal study. CT scan showed a solitaly enhancing mass in the right prepontine region. On Sept. 22, 1984, a right frontotemporal craniotomy was performed, and the tumor was totally removed by pterional approach. The tumor was located beside the right internal carotid artery and the oculomotor nerve was incorporated in the tumor. The histological diagnosis was Antoni B type neurinoma. The clinical features of fourteen reported cases of neurinoma of the oculomotor nerve in the literature were reviewed.
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PMID:[Neurinoma of the oculomotor nerve: case report]. 378 66

An 18-month-old girl presented with the ocular findings of severe ptosis of the right upper lid, astigmatism and the Adduction Fixation Preference. She also had psychomotor retardation and multiple congenital anomalies. The karyotype revealed an interstitial deletion of the long arm of chromosome 5 at q 12. This is the first description of the ophthalmological findings in this chromosomal disorder.
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PMID:Eye findings in interstitial deletion of band q12 of chromosome 5. 644 14

A 34-year-old White woman underwent surgery for the correction of bilateral ptosis. She had a known diagnosis of hypoparathyroidism following previous thyroidectomy, and was receiving replacement therapy. The peri-operative handling and the physiopathology and therapeutic management of hypoparathyroidism are discussed.
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PMID:Anaesthesia and hypoparathyroidism. A case report. 662 59

Two cases of ureteroceles are reported. Case 1: Transurethral prolapse of a simple ureterocele was seen in a 27-year-old woman. Bilateral vesicoureteral neostomy was carried out, and she has been living with no vesicoureteral reflux or complaints. Case 2: An ectopic ureterocele was seen in a 51-year-old woman. She had right complete double renal systems, neither of which was dilated. There were three stones in the ureterocele and several stones in the upper renal system. Ureterocelectomy and plasty of the ureteral orifices were performed, and a complete cure was achieved.
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PMID:[Ureteroceles in adult women: report of two cases]. 667 40


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