A Case Report of Diaper Staining Since Birth: Rare Metabolic Disorder Alkaptonur
Journal Title: The Indian Journal of Maternal-Fetal and Neonatal Medicine - Year 2017, Vol 4, Issue 2
Abstract
Alkaptonuria is a rare metabolic autosomal recessive disorder caused by deficiency of homogentisic acid oxidase [1]. A three old female child presented with history of staining of diaper since birth and during treatment underwent battery of scanning and investigations. Diagnosis was suspected when urine turned black when kept in a sterile container. Her urine examination showed homogentisic acid. Patient was diagnosed alkaptonuria.
Authors and Affiliations
Deeksha Shakywal
Keywords
Related Articles
- EP ID EP454935
- DOI 10.21088/ijmfnm.2347.999X.4217.19
- Views 102
- Downloads 0
Neurodevelopmental Clinic at Tertiary Care Centre since 6 years: A Humble Beginning
Context: The improvement in perinatal care has led to increase in survival as well as morbidity in sick newborns. Babies discharged from NICU need to neurodevelopmental (ND) follow ups and rehabilitation. Aims: To assess...
A Study on Chronic Hypertension in Pregnancy in a Tertiary Care Hospital
This is a retrospective study on antenatal mothers with chronic hypertension detected either preconceptionally or before 20 weeks of gestation, carried out during a period of 6 months from February 2017 to July 2017 at G...
A Retrospective Observational Study of Bilateral Internal Iliac Ligation (BIAL) as a Therapeutic Measure in Severe Obstetric Hemorrhage at a Tertiary Care Centre in North Maharashtra
Background: Obstetric hemorrhage is major cause of maternal mortality worldwide. In India obstetric hemorrhage constitutes 38% of maternal deaths. BIAL is advocated as effective means of controlling severe obstetric hemo...
Prevalence of Premenstrual Syndrome and Coping Behavior among Higher Secondary School Girls
Background: Premenstrual syndrome is a psychosomatic disorder of unknown etiology often noticed just prior to menstruation. Premenstrual symptoms are a group of symptoms linked to the menstrual cycle. Premenstrual sympto...
Rudimentary Horn Pregnancy: A Diagnostic Dilemma
Background: Rudimentary horn pregnancy carries grave consequences for the mother. Though sonography and magnetic resonance imaging can clinch the diagnosis in early stages, majority of the cases are diagnosed only after...