History of weak cry and poor suck at birth in suspected respiratory chain disorder- a case report

• Published in: Indian journal of clinical biochemistry Vol. 31; no. S1; p. S108
• Main Authors: Saritha, Kamath U, Bhaskaranand, Nalini, Rao, Anjali
• Format: Journal Article
• Language: English
• Published: Springer 01-12-2016
• Subjects: Analysis; Diagnosis; Enzymes; Lactates; Medical research; Medicine, Experimental; Seizures (Medicine)
• ISSN: 0970-1915

Introduction: Respiratory chain disorder is an inborn errors of energy metabolism. Diagnosis of any IEM initiates with study of patients family history, birth history, clinical symptoms. The initial laboratory indicators might include lactate, lactate:puruvate ratio which tells about redox status in the cytoplasm. Structural abnormalities of mitochondria and analysis of enzyme assay are essential to confirm the diagnosis. Here we present a case of suspected respiratory chain disorder who born at full term with good birth weight. Case report: A 11-month-old female baby born to nonconsanguinous parent was brought to our hospital because of lethargy and seizures. Pregnancy period was normal, there was no perinatal insult. She was having a history of poor feeding, weak cry at birth and history of vomiting after feed. There was no delay in her developmental milestones till the age of 9 months after which she had episodes of seizures. Mother observed, there was a regression in milestones following seizures. Her physical examination was remarkable for lethargy, axial hypotonia. Results of baseline metabolic work up and MRI suggestive of mitochondrial disorder. Hence treated with megavitamin which included thiamine, riboflavin. Child was responding to the treatment, unfortunately succumbed during setback. Comment: Weak cry, poor suck, vomiting on history and lethargy with hypotonia on clinical examination warrants baseline metabolic workup. Referring babies with suspicion of IEM to higher centers helps in early diagnosis and proper intervention. Educating about these to parents and primary care takers may be useful in this respect.