Case Challenge #7

A 26 year old Asian male presents with headache and neck stiffness. This is the 3rd episode in last 6 years since coming to US for school. Also notes oral ulcers in mouth and genital area. He takes no medications and denies recent sexual activity.

On physical exam, the patient is afebrile and nontoxic appearing. He has bilateral eye redness c/w uveitis, oral ulcers, and genital ulcers. Exam also reveals neck stiffness.

Labs: WBC 11k, Hgb 12, other wnl. CSF with 45 cells (85% Lymphs), protein 65, glucose normal. Gram stain is negative.


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Vitamin B 12 Deficiency

General Information
  • Cobalamin is necessary for DNA synthesis and is found in sardines, shrimp, calf’s liver, and other animal meats.
  • Cobalamin is released from food by gastric peptidases and is then absorbed in the ileum through intrinsic factor.
  • Because of the large hepatic reservoir and efficient reuptake by the enterohepatic system, cobalamin deficiency due to decreased PO intake takes several years to develop.
  • Malabsorption – pernicious anemia, inflammatory bowel disease, celiac disease, bacterial overgrowth, pancreatic insufficiency
  • Pernicous anemia is due to antibodies directed at hydrogen potassium adenosine triphosphatase in the parietal cell membrane causing parietal cell atrophy and reduced intrinsic factor levels
Clinical Presentation
  • Glossitis, weight loss, pale yellow skin, abdominal pain secondary to gastritis
  • Loss of vibration and propioception which can progress to spastic ataxia, hallucinations, dementia, psychosis
  • Peripheral smear can show hypersegmented neutrophils, basophilic stippling, oval macrocytes
  • Hemolysis, thrombocytopenia, and leukopenia are other common lab findings due to inefficient hematopoiesis
  • Elevated homocysteine and methylmalonic levels; high methylmalonic levels are more sensitive and specific in diagnosing cobalamin deficiency than actual cobalamin levels
  • Parental: 1000mcg daily for 1 week, 1000mcg once a week for 4 weeks, 1000mcg every month for rest of life
  • Oral: 1000mcg-2000mcg PO every day. Recent research has shown PO regimens to be comparable to parental as it is thought that the presence of a second, lower efficiency transport system for cobalamin which does not require intrinsic factor or a functioning terminal ileum can be utilized


ACE Score – Never Heard of It? You May Want to Know

Last week NPR’s All Things Considered highlighted the Adverse Childhood Experiences (ACE) Score which is a 10 item questionnaire with higher scores associated with increased risk of smoking, alcoholism, cancer, suicide, and other di. The score was developed as part of the ACE Study – a collaborative research project between the CDC and Kaiser Permanente in San Diego that recruited over 17,000 participants between 1995-1997 and have been in long-term follow-up for health outcomes. The NPR segment focused on the ACE Score and its utility in taking care of patients and how childhood experiences can impact one’s future health into adulthood. However, the score has not been universally implemented due to the very personal nature of the questions and how long it can take to complete. However, proponents of the score believe it can help patients better understand their health and physicians better understand their patients and how to help them. Click on the links below to read about the ACE Study from the CDC’s website and NPR’s segment.

CDC – ACE Study

10 Questions Some Doctors Are Afraid to Ask

#clinicalpearl ARDS definition

In 2011, the definition of acute respiratory distress syndrome (ARDS) was updated by the European Society of Intensive Care Medicine with endorsement from the American Thoracic Society and the Society of Critical Care Medicine. Referred to as the “Berlin Definition” because the panel had met in Berlin, Germany. Check out the table below from JAMA outlining the definition of ARDS!

ARDStableThe ARDS Definition Task Force*. Acute Respiratory Distress Syndrome: The Berlin Definition. JAMA. 2012;307(23):2526-2533. doi:10.1001/jama.2012.5669.