Defined as those seen in any macrocytic, megaloblastic anemia: * Anemia: causing fatigue, conjuctival pallor, pale complexion, and in some cases, a mild icterus (yellowing of the eye). * Glossitis ("shiny tongue"): shiny, glossy tongue. * Cheilosis (stomatitis): Inflammation of the edges of the lips and the oral mucosa. * Tabes dorsalis ("subacute combined degeneration of the spinal cord"): This involves the posterior section of the spinal cord and therefore involves proprioception (sense of position), touch, sense of vibration and in severe cases the lateral corticospinal tract, causing spastic paralysis of the limbs. * Peripheral neuropathy: tingling sensation in the arms and legs. * Pancytopenia: decreased number of blood cells of all lineages (RBCs, leucocytes, platelets), due to decreased bone marrow production. * Methylmalonic Acidemia: defined as blood having an unusually high concentration of methylmalonyl CoA. * Peripheral findings such as hypersegmented neutrophils and large RBCs on high field view of the blood smears. * Laboratory findings indicating increased MCV (Mean Corpuscular Volume), decreased Hgb/Hct (indicating anemia), and decreased value of vitamin B12 in the blood. * Proteinuria: protein found in the urine detected by analysis or by dipstick. * Reversal of all symptoms except neurological symptoms, by IV injection of vitamin B12. * Schilling test indicating no radioactive vitamin B12 in the urine. (This test has dropped out of favor and should not be tried in patients with any form of renal failure).
Imerslund–Gräsbeck syndrome
Kohlschütter-Tönz syndrome
Naegeli–Franceschetti–Jadassohn syndrome
König's syndrome
Franceschetti–Klein syndrome
Parry–Romberg syndrome
Schöpf–Schulz–Passarge syndrome
Zechi-Ceide syndrome