Open AccessLETHARGY AND HYPOTONIA IN A PRETERM NEONATE – USUAL SYMPTOM WITH UNUSUAL DIAGNOSIS OF MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY
Author(s) -
Karthikeyan Kadirvel,
Liza Davis,
Ragasivamalini Sivapregassam
Publication year - 2022
Publication title -
indian journal of case reports
Language(s) - English
Resource type - Journals
eISSN - 2454-1303
pISSN - 2454-129X
DOI - 10.32677/ijcr.v8i2.3259
Subject(s) - lethargy , hypotonia , medicine , pediatrics , metabolic acidosis , exome sequencing , poor feeding , biotinidase deficiency , newborn screening , mutation , genetics , biology , gene
Background: Methodical evaluation of a neonate with common clinical findings (hypotonia and lethargy) is important whenever it cannot be attributed to the frequent causes. This case report is on a preterm neonate with persistent hypotonia and metabolic acidosis was evaluated and diagnosed with mitochondrial trifunctional protein deficiency. Report: A preterm male baby second born to second degree consanguineous parents was found to have profound lethargy and hypotonia with severe metabolic acidosis despite the shock being corrected. Management: In spite of negative reports of first tier investigations for inborn errors of metabolism (IEM), baby was started on carnitine and biotin with strong clinical suspicion for IEM. Whole exome sequencing in the baby and Sanger sequencing in mother showed same gene mutation in HADHA gene suggesting mitochondrial trifunctional protein (MTFP) deficiency. He was started on special infant formula containing medium chain triglycerides along with breastfeeding. Conclusion: Early diagnosis and initiation of fat modified diet, avoiding catabolic stress situation and aggressive treatment during intercurrent illness can have satisfactory growth and development in the child.