1.Biochemical and clinical findings in the first two cases of glutaric aciduria type I in the Philippines
Fodra Esphie Grace D. ; Lanot Vanessa O. ; Balansay Lorena S. ; Chiong Mary Anne D.
Acta Medica Philippina 2011;45(4):70-72
We report the first two diagnosed cases of Glutaric Aciduria Type I (GA I) in the Philippines. The diagnosis was confirmed by urinary organic acid analysis by Gas Chromatography-Mass Spectrometry (GC-MS) which showed the characteristic metabolites for GA I. Review of their clinical features showed macrocephaly, developmental delay, seizures, dystonia and choreoathetotic posturing. Cranial CT scan findings were also compatible with previously reported cases. This paper emphasizes the usefulness of locally available biochemical tools in the diagnosis of inborn errors of metabolism as well as the importance of clinical recognition of these disorders.
Human
;
Male
;
Female
;
Child Preschool
;
Infant
;
MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY
;
CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ABNORMALITIES
;
GENETIC DISEASES, INBORN
;
METABOLISM, INBORN ERRORS
;
AMINO ACID METABOLISM, INBORN ERRORS
2.A Case of Type A Niemann Pick Disease.
Hyo Nam CHO ; Hong Jin LEE ; Jae Won SONG ; Jung Hwan CHOI ; Hyung Ro MOON ; Je Geun JI ; Myeong Hee PARK
Journal of the Korean Pediatric Society 1987;30(12):1461-1467
No abstract available.
Niemann-Pick Disease, Type A*
3.A Case of Type A Niemann-Pick Disease.
Dong Hwan LEE ; Sang Jhoo LEE ; In Sook KIM ; Tae Jung KWON ; Dong Wha LEE ; Young Bong MOON ; Yang Bin IM
Journal of the Korean Pediatric Society 1989;32(3):402-411
No abstract available.
Niemann-Pick Disease, Type A*
4.Adrenogenital Syndrome with Congenital Adrenal Hyperplasia.
Myoung Sung MOON ; Kwang Nam KIM ; Woo Gill LEE
Journal of the Korean Pediatric Society 1984;27(5):511-515
No abstract available.
Adrenal Hyperplasia, Congenital*
;
Adrenogenital Syndrome*
5.A Case of Acrodermatitis Continua of Hallopeau.
Hae Woong LEE ; Kyoung Jin KIM ; Mi Woo LEE ; Jee Ho CHOI ; Kee Chan MOON ; Jai Kyoung KOH
Annals of Dermatology 2004;16(3):141-143
No abstract available.
Acrodermatitis*
6.Four Cases of Gianotti-Crosti Syndrome.
Yong Gab KWON ; Ki Sup CHUNG ; Kir Yong KIM
Journal of the Korean Pediatric Society 1984;27(8):820-826
No abstract available.
Acrodermatitis*
7.A case of congenital afibrinogenemia.
Hee Soo KIM ; Kook In PARK ; Ran NAMGUNG ; Chul LEE ; Dong Gwan HAN ; Kir Young KIM ; Hyun Sook KIM
Korean Journal of Perinatology 1992;3(2):99-103
No abstract available.
Afibrinogenemia*
9.Renal cell carcinoma in a horseshoe kidney
Luis Antonio R. Balajadia ; Michael Jonathan R. Latayan ; Al-Widzrin M. Jupli
Philippine Journal of Urology 2017;27(2):110-115
Horseshoe kidney is a rare form of congenital renal malformation. It occurs in 0.25 to 3% of the population and is usually asymptomatic. Occurrence of symptoms is usually related to infection, lithiasis, and rarely, malignancy. Presented is a case of a 62-year old male with a one-year history of occasional painless hematuria associated with epigastric discomfort. On physical examination, a palpable mass was noted on the right periumbilical area, 10cm x 10cm in size and was non-tender. CT-scan with IV contrast showed 10cm x 7cm x 12cm mass on the right side of a horseshoe kidney. He underwent Radical Nephrectomy, right with Isthmusectomy. Post-operative course was unremarkable. Histopathology result showed Renal Cell Cacrcinoma, clear cell type.. Although malignancy was present in an anomalous kidney, the prognosis is the same as with normal kidneys. To date, this is the first reported case of malignancy on a horseshoe kidney in the Philippines.
Fused Kidney
;
Carcinoma, Renal Cell
10.Familial Isolated Accessory Tragi.
Korean Journal of Dermatology 2008;46(2):238-240
Accessory tragi are an unusual congenital disorder, which are derived from a developmental abnormality of the first branchial arch. They appear at birth as soft or firm skin-colored papules or nodules, usually located in front of the auricle. There was no report of familial accessory tragi in Korean literature. Herein, we present two cases of familial accessory tragi occurring in a brother and a sister.
Branchial Region
;
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
;
Humans
;
Parturition
;
Siblings