Case 4 History ---- This was a 7 month old male who was brought to the ER with a two day history of respiratory compromise, nasal congestion and a fever of 102°.The child on this and subsequent hospitalizations exhibited marked hypotonia and poor weight gain. An extensive workup was conducted at that time, which found increased lactate and pyruvate in the cerebrospinal fluid. Thiamine inhibitor was searched for, but was negative on three occasions. An alanine test was positive, suggesting a pyruvate dehydrogenase or decarboxylase deficiency. It was felt that the child had an inborn error metabolism consistent with a diagnosis of Leigh’s syndrome. His developmental milestones continued to regress and developed tonic spells, which involved flexion of all the extremities and a startled appearance. The family history was positive for two other siblings who died in infancy (at 3 1/2 and 5 months of age) with similar problems. ABG's showed a pH of 6.98 and pC02 of 69. The baby continued to deteriorate and was intubated when he had no spontaneous respirations and bradycardia. The EEG had become flat. Terminal pH on the urine was 5.73 and the baby expired.
