Showing posts with label Inborn errors of metabolism. Show all posts
Showing posts with label Inborn errors of metabolism. Show all posts

Tuesday, July 19, 2011

July updated

A bit behind in Morning Report postings. Please forgive the hit and miss of the presentations.

07.06.2011...

07.04.2011
4th of July. No morning report.

07.01.2011
seizure in a 3 day old newborn...

View my collection, "Newborn Seizure -- diagnosis and treatment" from NCBI

Most common metabolic dificiency in newborns...

View my collection, "Medium chain acyl coenzyme A dehydrogenase deficiency" from NCBI

Monday, May 10, 2010

Infant Hypocalcemia?

An infant has been referred to the Emergency Department by the PCP. The parents complain that the newborn (8 days of life) is twitching and has rapid eye movement. He does not seem to be getting better.

Differential Diagnoses:
Parathyroid, Hypocalcemia, Hypomagnesemia, Disorder of Vitamin D Metabolism.

View my collection, "Infant Hypocalcemia?" from NCBI

AM Report Hypocalcemia in Children

Wednesday, November 18, 2009

Mitochondrial Deletion Syndrome

Mitochondrial DNA (mtDNA) deletions have been identified in patients with progressive external ophthalmoplegia (PEO), Kearns-Sayre syndrome (KSS), Pearson syndrome and mitochondrial myopathies (MM).

Mitochondrial Deletion Syndrome

View my collection, "Mitochondrial deletion syndrome" from NCBI