Infantile thiamine deficiency (infantile beriberi) may develop suddenly and is associated with a high mortality rate unless promptly diagnosed and treated. This is complicated by the nonspecific features which are shared by other disorders.


Common feature: infant breast fed by mothers with thiamine deficiency


Types of presentations:

(1) cardiac

(2) aphonic

(3) pseudomeningitic


Cardiac presentation (usual onset age 1-3 months):

(1) peripheral edema

(2) breathlessness, cyanosis and pulmonary edema

(3) enlargement of the heart and liver

(4) colic and restlessness

(5) anorexia and vomiting

(6) decreased urine output

(7) sudden death, which may occur within hours of onset


Aphonic presentation (usual onset age 4-6 months):

(1) cries at the onset but eventually no sound is produced when crying

(2) restlessness

(3) breathlessness

(4) peripheral edema.


Pseudomeningitic (encephalitic; usual onset 7-9 months):

(1) nystagmus

(2) muscle twitching

(3) bulging fontanelle

(4) convulsions

(5) reduced levels of consciousness

(6) stiffness of the neck

(7) sweating

(8) vomiting


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