Wegener's granulomatosis is a disease of unknown etiology that is characterized by the clinicopathologic complex of necrotixing granulomatous vasculitis of the upper and lower respiratory tract, glomerulonephritis, and variable degrees of small vessel vasculitis. Recently Antineutrophil Cytoplasmic Antibody (ANCA) has been reported to be a highly specific test for the diagnosis of Wegener's granulomatosis. We have experienced a patient of Wegener's granulomatosis in a 11 year old girl who was admitted with complaints f arthralgia, hematuria, convulsion and associated with otitis media and sinusitis. Serologic test of C-ANCA was positive and histologic findings of the kidney showed crescentic glomerulonephritis with sclerosis and surrounding infiltration of multinucleated giant cells. Patient was treated with pulse methylprednisolone without improvement. The clinical course progressed rapidly and expired due to the renal failure, gastrointestinal bleeding and status epilepticus. A brief review of literatures was made.
Antibodies, Antineutrophil Cytoplasmic* ; Arthralgia ; Child ; Diagnosis ; Female ; Giant Cells ; Glomerulonephritis ; Hematuria ; Hemorrhage ; Humans ; Kidney ; Methylprednisolone ; Otitis Media ; Renal Insufficiency ; Respiratory System ; Sclerosis ; Seizures ; Serologic Tests ; Sinusitis ; Status Epilepticus ; Vasculitis ; Wegener Granulomatosis*

Currarino triadis a unique malformation complex of congenital caudal anormalies, including anorectal malformatio (anal stenosis, anal ectopis, imperforated anus), sacral bony abnormality (scimitar or crescentic bony defect, malsegmentation) and presacral mass (meningocele, teratoma, enteric cyst or any combination of these). This triad is familial in at least half of cases and the usual symptomatology is constipation due to anorectal stenosis. The embryogenesis is presumably due to abnormal separation of the neuroectoderm from the endoderm, so this triad is in the spectrum of the split notochord syndrome. We report a case of Currarino triad in 5-month-old female patient who had chronic constipation and abdominal distention with brief review of the related literatures.
Constipation ; Constriction, Pathologic ; Embryonic Development ; Endoderm ; Female ; Humans ; Infant ; Neural Plate ; Notochord ; Pregnancy ; Teratoma

Maffucci's syndrome is a very rare, congenital and non-hereditary mesodermal dysplasia manifested by multiple enchondromas and soft tissue hemangiomas. Since Maffucci had reported this sysdrome in 1881, there have been more than 100 cases reported, and also there has been reported that Maffuddi's syndrome has various interstitial tumor. However there hasn't been any report about Maffucci's syndrome with testicular teratoma. Here we report in this paper that the patient was diagnosed as Maffucci's syndrome of enchondroma and liver hamangioma and also had testicular teratoma. He was admitted for the evaluation of gynecomatia and diagnosed as enchondroma by bone biopsy of the right rib and tibia. Liver hemangioma was also found through abdominal ultrasonogram, CT scan and liver biopsy. And the testicular teratoma was confirmed through testicular biopsy. He is finally diagnosed as Maffucci's syndrome with testicular teratoma and literatures were reviewed.
Biopsy ; Chondroma ; Enchondromatosis ; Hemangioma ; Humans ; Liver ; Mesoderm ; Ribs ; Teratoma* ; Tibia ; Tomography, X-Ray Computed ; Ultrasonography

In 1947, Ota et al. first reported a case of phakomatosis pigmentovascularis and defined a subgroup of this disease having a congenital generalized hemangioma and pigmented lesions including a mongolian spot-like lesion, nevus pigmentosus and nevus of Ota. We experienced a case of phakomatosis pigmentovasularis type IIb in a 10-day old male baby, who since birth, had generalized nevus flammeus and blue spots, syndactyly between 2nd and 3rd toes in both feet, and dilated collecting system in left kidney.
Foot ; Hemangioma ; Humans ; Kidney ; Male ; Neurocutaneous Syndromes* ; Nevus ; Nevus of Ota ; Parturition ; Port-Wine Stain ; Syndactyly ; Toes

Apert syndrome is an uncommon, congenital disorder characterised by malformation of the skull, most often acrocephaly or oxycephaly, in association with symmetrical syndactyly of both hands and feet. It is due to disturbance in the growth of bone and soft tissue affecting principally the head, the hands and the feet. The original description was presented by Troquart in 1886, and acrocephaloyndactyly was named by Apert in 1906. Since then, more than 200 cases have been reported in the world upto 1970. Recently, we have experienced three for typical Apert syndrome and made a brief related literature review
Acrocephalosyndactylia* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Craniosynostoses ; Foot ; Hand ; Head ; Skull ; Syndactyly

No abstract available.

No abstract available.

No abstract available.
Osteogenesis Imperfecta* ; Osteogenesis*

No abstract available.
Progeria*

No abstract available.
Teratoma*