A rare case of Pyruvate Kinase deficiency

Journal Title: Medpulse International Journal of Pediatrics - Year 2018, Vol 5, Issue 1

Abstract

A 7 months old female child brought to us with complaints of abdominal distention and increased pallor since one month. Child also had failure to thrive and developmental delay. On examination, had severe pallor with hepatosplenomegaly. Investigations revealed severe anemia with Macrocytosis with Reticulocytosis along with indirect hyperbilirubinemia. Work up for hemolytic anemia done. Enzyme studies revealed Pyruvate Kinase deficiency. Child was transfused with PCV and folate supplementation done. Child’s general condition improved. On regular blood transfusion. Clinical Presentation similar to Thalassemia.

Authors and Affiliations

Harshal Wagh, Swapnil Mirajkar, Sudha Bhave

Keywords

Related Articles

Association of iron deficiency anaemia with febrile seizure in children

Background: Previous studies reported that iron deficiency could be a risk factor for Febrile Convulsion (FS) because both conditions are common in children of the same age. However, few studies described iron deficiency...

Study of different variable and outcome in early and late onset childhood epilepsy

Background: Epilepsy is a chronic neurological disorder outcome of childhood epilepsy differs among early onset (onset before one year) and late onset (onset after one year) childhood epilepsy. There is a paucity of data...

Study of maternal sociodemographic factors influencing low birth weight in institutional deliveries

Background: Birth weight act as an important public health indicator. Low birth weight is more common in developing countries than in developed countries. Mothers living in lower socio-economic conditions frequently have...

Study of sociodemographic characteristics associated with patients of scrub typhus

Background: Rickettsial diseases are some of the most covert re-emerging infection of the present times Aims and Objectives: To Study sociodemographic characteristics associated with patients of scrub typhus. Methodology...

Rare case report of Laurence-Moon-Bardet-Biedel syndrome

Laurence-Moon-Bardet-Biedl (LMBB) syndrome is a rare autosomal recessive disorder characterized by structural and functional abnormalities of different organ and tissues. In 1920 Bardet described a female patient of 4 ye...

Download PDF file
  • EP ID EP266358
  • DOI -
  • Views 105
  • Downloads 0

How To Cite

Harshal Wagh, Swapnil Mirajkar, Sudha Bhave (2018). A rare case of Pyruvate Kinase deficiency. Medpulse International Journal of Pediatrics, 5(1), 11-12. https://europub.co.uk/articles/-A-266358