We report a case of giant M llerian duct cyst in a 6 month-old-boy with urinary tract infection. A mass displacing the bladder and prostatic urethra anteriorly was found on the voiding cystourethrogram, and it was a oval shaped retrovesical anechoic cyst on the abdominal ultrasonogram. On MRi, it was a tear-drop shaped cyst of isosignal intensity with a projection toward the prostatic urethra and located in the midline of vesicorectal space. Grossly, the cyst had communication with prostatic urethra and both vas deferenses were drained to the cyst. Pathologically it was confirmed as a M~'llerrian duct cyst lined with squamous epithelium.
Epithelium ; Magnetic Resonance Imaging ; Ultrasonography ; Urethra ; Urinary Bladder ; Urinary Tract Infections ; Vas Deferens

BACKGROUND: Tandem duplication of chromosome 17p11.2-p12 including peripheral myelin protein 22 (PMP22) gene is the most frequent cause of Charcot-Marie-Tooth 1A (CMT1A). Patients carrying one extra copy of PMP22 develop CMT1A, whereas the deletion of the 17p11.2-p12 region causes hereditary neuropathy with the liability to pressure palsies (HNPP). In the present study, we established the genotyping methods of 6 microsatellite markers (D17S921, D17S9B, D17S9A, D17S4A, D17S918 and D17S122) within the 17p11.2-p12 regions by the hexaplex PCR for the genetic diagnosis of CMT1A duplication and HNPP deletion. METHODS: We established polymorphic behavior and genotyping methods of 6 microsatellite markers (D17S921, D17S9B, D17S9A, D17S4A, D17S918 and D17S122) within the duplication region. The 6 markers were amplified by hexaplex PCR reaction and analyzed by an automatic sequencing analyzer and genotyper program. RESULTS: The genotype distributions of all markers were not significantly deviated from the Hardy-Weinberg equilibrium (P>or=0.05). When comparing the control group and CMT1A, HNPP patients group by the distribution of allele, there is no significant difference in the 5 locus except in the 1 locus (D17S921) among HNPP patients. The specificity was more than 99.9%. The sensitivity of each CMT1 and HNPP was 56.3% (40/71 pedigrees) and 72.1% (31/43 HNPP pedigrees), respectively. CONCLUSIONS: The error rate for the system may be less than 0.001. According to this study, it is possible to have rapid and exact genetic diagnosis of both CMT1A and HNPP, which may be helpful for the development of personalized therapy according to genetic defects.
Alleles ; Charcot-Marie-Tooth Disease ; Diagnosis* ; Genotype ; Humans ; Microsatellite Repeats* ; Multiplex Polymerase Chain Reaction* ; Myelin Sheath ; Paralysis ; Polymerase Chain Reaction ; Sensitivity and Specificity

No abstract available.
Intussusception*

Intraductal papillary mucinous neoplasms of the bile ducts (IPMNs-B) are uncommon lesions that are characterized by innumerable papillary fronds that contain fine vascular cores, enriched mucin production and bile duct dilatation. IPMNs-B are histologically similar to intraductal papillary mucinous neoplasms of the pancreas and they are occasionally associated with hepatolithiasis. IPMNs-B are considered to be relatively low-grade malignancy and they merit consideration for aggressive surgery. Thus, early and precise diagnosis is important to maximize patient survival. From July 2002 to March 2006, we identified four patients with IPMNs-B at our hospital. In three patients, intrahepatic or extrahepatic bile duct stones were associated with their condition. Computed tomography and magnetic resonance cholangiography were done in all four cases and this demonstrated marked dilatation of the biliary tree. Endoscopic retrograde cholangiography was done in two cases and a large amount of mucin that was draining from the patulous orifice of the duodenal papilla was seen on endoscopy. However, two cases were initially misdiagnosed as intrahepatic cholangiocarcinoma or choledochal cyst with intrahepatic bile duct stones. All the cases underwent ipsilateral hemihepatectomy with caudate lobectomy. Histologically, one case showed to be adenoma, one case was borderline and two cases were invasive adenocarcinoma.
Adenocarcinoma ; Adenoma ; Bile Ducts* ; Bile Ducts, Extrahepatic ; Bile Ducts, Intrahepatic ; Bile* ; Biliary Tract ; Cholangiocarcinoma ; Cholangiography ; Choledochal Cyst ; Diagnosis ; Dilatation ; Endoscopy ; Humans ; Mucins* ; Pancreas

The symmetrical peripheral gangrene syndrome consists of sudden onset of symmetrical gangrene of the fingers, toes and more raely, the nose, upper lip, ear lobes, or genitalia. There is no evidence of occulusion of large vessels or vasculitis. We experienced a case of symmetrical peripheral gangrene developed in fingers and toes with disseminated intravascular coagulation in 20 day-old permature infant with sepsis by Enterobacter aerogenes. Thereafter, we presented a case with a brief review of the related literatures.
Disseminated Intravascular Coagulation* ; Ear ; Enterobacter aerogenes ; Fingers ; Gangrene* ; Genitalia ; Humans ; Infant ; Lip ; Nose ; Sepsis ; Toes ; Vasculitis

The combination of dacryocystography and computed tomography have been called as computed tomographic dacryocystography. The authors carried out computed tomographic dacryocystography using water soluble contrast media, Rayvist(R), in two patients with a mass around the lacrimal fossa. This radiologic technique demonstrated that the lacrimal system was not invaded by the tumor and was helpful in planning the surgical approach. The results of excisional biopsy of the mass revealed an epidermoid cyst in both cases.
Biopsy ; Contrast Media ; Epidermal Cyst ; Humans

Cysts of accessory lacrimal gland are rare. They are generally retension cysts that result from obstruction of the excretory duct and are found between the palpebral conjunctiva and the levator aponeurosis. We experienced three cases of subconjunctival cyst in the upper fornix. Histopathological examination showed the cysts lined by two layers and occasionally one layer of epithelium. These cysts seem to be originated from Krause's gland, considering their anatomical location and histopathological findings.
Conjunctiva* ; Epithelium ; Lacrimal Apparatus

The authors reviewed 104 cases(51 men and 53 women) of the orbital tumors diagnosed hitopathologically at the Department of Ophthalmology, Yeungnam University Hospital from March 1984 to April 1996. Age istribution of the orbital tumors was reviewed. Eighty-four cases of benign tumors were found evenly distributed in all decades, but twenty cases of malignant tumors were mainly distributed in 1st, 6th, and 7th decades. The frequency of benign orbital tumors was in the following order; dermolipoma(19%, 20 cases), dermoid cyst(13.5%, 14 cases), mucocele(7.7%, 8 cases), lipoma(6.7%, 7 cases) and pleomorphic adenoma (5.8%, 6 cases). Of malignant orbital tumors, the frequency was in the following order; retinoblastoma (3 cases), malignant melanoma (2 cases), sebaceous carcinoma(2 cases), and maxillary sinus carcinoma (2 cases). Malignant orbital tumors of eight expired cases were revealed as secondary or metastatic orbital tumors.
Adenoma, Pleomorphic ; Classification* ; Dermoid Cyst ; Humans ; Male ; Maxillary Sinus ; Melanoma ; Ophthalmology ; Orbit* ; Retinoblastoma

Functional lacrimal obstruction is a rare physiologic dysfunction of the lacrimal drainage system without any mechanical obstruction. Twelve eyes of 9 patients were diagnosed by syringing, dacryacystography, and lacrimal scintigraphy. Normal drainge pattern was noticed in syringing and in the initial film of dacryocystography. However slow or non-functioning drainge was disclosed in the delay film of dacryocystography and lacrimal scintigraphy. The causes of functional problem were facial nerve palsy, trauma and idiopathic. Conjunctivodacryocystorhinostomy was performed in all 12 eyes with satisfactory results.
Drainage ; Facial Nerve ; Humans ; Paralysis ; Radionuclide Imaging

The authors performed reconstructive surgery for three cases of extensive upper and lower lid defects using modified Hughes procedure during the past one year. Two cases were upper lid reconstruction for the recurrent sebaceous carcinoma and the upper lid coloboma due to thermal bum. The other one was the adenoid cystic carcinoma of the lower lid. The first stage of this procedure was performed by tarsoconjunctival flap. The second procedure was performed after 6 weeks. This lid sharing technique was excellent for both cosmesis and lid function. All of the three patients have been very happy without any complications such as malposition of the lid margin, lid retraction or blepharoptosis.
Blepharoptosis ; Carcinoma, Adenoid Cystic ; Coloboma ; Humans