Neurological Manifestations of Folate Transport Defect: Case Report and Review of the Literature-Reference-Cited by-同舟云学术

Neurological Manifestations of Folate Transport Defect: Case Report and Review of the Literature

Published:2007-06 Issue:6 Volume:22 Page:783-786
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Sofer Yael¹,Harel Liora²,Sharkia Mohamad³,Amir Jacob²,Schoenfeld Tommy⁴,Straussberg Rachel⁵

Affiliation:

1. Department of Pediatrics C, Schneider Children's Medical Center of Israel, Petach Tikva,

2. Department of Pediatrics C, Schneider Children's Medical Center of Israel, Petach Tikva

3. Primary Pediatric Ambulatory Clinic, General Health Services, Jatt, Israel

4. Intensive Care Unit Schneider Children's Medical Center of Israel, Petach Tikva and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

5. Neurology Unit, Schneider Children's Medical Center of Israel, Petach Tikva

Abstract

Folate is essential for normal brain development. This report describes a 15-month-old boy who presented with generalized and focal seizures and a decline in mental status. Laboratory tests revealed low folate levels in blood (1.13 nmol/L) and cerebrospinal fluid, accompanied by pancytopenia. Bone marrow aspiration confirmed the presence of megaloblastic anemia. Treatment with high-dose intravenous folinic acid led to normalization of cerebrospinal folate levels. These findings apparently indicate a defect in folic acid transport to the central nervous system. A clinical picture of developmental arrest, seizures, somnolence, and megaloblastic anemia should alert physicians to the possibility of folate deficiency.

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/0883073807304004

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3. A new inborn error of metabolism: Folic acid responsive megaloblastic anemia, ataxia, mental retardation, and convulsion

4. Isolated Congenital Malabsorption of Folic Acid in a Male Infant: Insights Into Treatment and Mechanism of Defect

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