Classical Galactocemiain a fifty day old male child, obscured by the concomitant presence of TORCH infection -A Case Report
Journal Title: Scholars Journal of Medical Case Reports - Year 2015, Vol 3, Issue 12
Abstract
Classical Galactocemiain a fifty day old male child, obscured by the concomitant presence of TORCH infection -A Case Report. Galactosemia is a rare metabolic disorder with autosomal recessive inheritance due to deficiency of one of the three enzyme needed for galactose metabolism. Classical galactosemia results from deficiency of enzyme galactose-1-phosphate uridyl transferase (GALT).Its incidence varies greatly among different ethnic groups, manifesting in the new born period with persistent jaundice, failure to thrive, diarrhoea, vomiting, septicaemia, hepatosplenomegaly, and cataract, mortality is high if diagnosed late or left untreated . In a case report A fifty day old male baby born to 30 consanguineous parents, was admitted with complaints of vomiting, jaundice, dull activity and abdominal distention on and off since 4th day of life. There was history of hospitalization twice in the neonatal period for jaundice during which he was diagnosed as congenital rubella syndrome based on positive torch profile and presence of bilateral cataract. On admission in our hospital the child appeared malnourished with pallor, icterus, pedal oedema and bilateral nuclear cataract. His urine for GCMS demonstrated high level of galactose.The levels of galactose-1-phosphate in erythrocytes was elevated (36mg/dl), with decreased quantitative GALT enzyme assay (1.0 U/g Hb) thus confirming the diagnosis of galactosemia. The child was further investigated for mutation analysis which showed Q118R gene mutation. He was given symptomatic treatment along with substitution of breast milk with soya based milk formula. In conclusion We report a case of classical galactosemia in a fifty day old male baby, misdiagnosed as congenital TORCH infection. There by emphasizing the need for new born screening, and considering galactosemia as a differential diagnosis for all such cases.
Authors and Affiliations
Dr. Altaf Naseem, Dr. Naila Mazher, Dr. Soumya Anumula, Dr. Bismah Gul, Dr. E Apoorva, Dr. Wasim Akram, Dr. Shafi Khan
Keywords
Related Articles
- EP ID EP377661
- DOI -
- Views 66
- Downloads 0
A Patient with Thrombotic Thrombocytopenic Purpura and Crohn Disease
Thrombotic thrombocytopenic purpura is a rare disease characterized with microangiopathic hemolytic anemia, thrombocytopenia, fever, kidney damage and neurologic symptoms. Thrombotic thrombocytopenic purpura was reported...
An Interesting Case of Paediatric Penetrating Head Trauma by a Wedge of Concrete
Traumatic Brain Injury is among the leading cause of morbidity and mortality in modern times. Data suggests that almost 50 % of all trauma related deaths are secondary to traumatic brain injuries (TBI). Penetrating head...
Enhancement of Patient Aesthetics Using Detachable Cheek Plumpers in Complete Dentures: Case Series
Complete Dentures not only replace missing teeth but also improve facial esthetics. However, disfigurement of face in the form of sunken cheeks is still a common clinical problem in edentulous patients which sometimes ca...
Congenital Rubella Syndrome in a Term Male Neonate with Patent Ductus Arteriosus and Bilateral Nuclear Cataracts: A Case Report
Transplacental transmission of rubella virus leads to Congenital Rubella Syndrome. It is comprised of congenital cardiac defects (most commonly patent ductus arteriosus), cataracts and sensorineural hearing loss. While p...
Congenital Pulmonary Stenosis in Pregnancy with Favourable Feto-Maternal Outcome: A Case Report
Abstract: Pulmonary stenosis (PS) accounts for 10% to 12% of congenital heart disease in adults. Informations on the outcome of pregnancy in patients with pulmonary valve stenosis is scarce. We present a case report of 2...