Pediatric Beriberi Clinical Presentation

Thiamine deficiency has a wide range of clinical presentations. Although clinical overlap is common, the basic phenotypes are as follows:

• Wet beriberi

  • This phenotype affects the cardiovascular system and is divided into acute and chronic forms.
  • In acute wet beriberi or Shoshin beriberi, the predominant injury is to the heart, and rapid deterioration occurs because of the heart's inability to maintain function.
  • Presenting symptoms include tachycardia, low diastolic pressure, cardiomegaly, pulmonary edema, and cyanosis. Wet beriberi is characterized by elevated lactic acid levels. This condition can be readily reversed with thiamine infusion, if administered early.
  • Chronic wet beriberi with high-output cardiac failure has 3 stages.
    • Initially, peripheral vasodilatation occurs, yielding high-output cardiac failure.
    • Then, the progression of vasodilatation is perceived by the kidney as a relative loss of volume. The ensuing activation of the renin angiotensin system produces greater salt and water retention.
    • Consequently, further fluid overload results in peripheral edema and pulmonary effusions.
  • Cardiac overuse injury that occurs in the above setting results in tachycardia, hypertension, and chest pain.
  • Thyrotoxicosis, a more common cause of high-output cardiac failure, is always among the differential diagnoses.
• Dry beriberi

  • This phenotype affects the neuromuscular system.
  • Polyneuritis and symmetric, ascending paralysis of the peripheral nerve systems predominate.
  • The sensory system is affected first, followed by the motor and autonomic systems.
  • Typically, tactile sensation is the first to be lost, followed by pain, and, finally, temperature.
  • Paresthesia and hyperesthesia usually begin with the lower extremities and gradually involve the upper extremities and perioral area.
  • Deep tendon reflexes are lost, calf muscles become painful, and foot drop and, eventually, wrist drop occur.
  • If untreated, progressive weakness, wasting of muscles, and, ultimately, complete paralysis occur.
  • Encephalopathy is an alternative mode of presentation, with vomiting, disorientation, horizontal nystagmus, palsies of the eye movements (ophthalmoplegia), ataxia, and progressive mental impairment.
  • Korsakoff syndrome is a more ominous condition that usually precludes complete recovery. Confusion is followed by the loss of recent memory and confabulation, which is the creation of accounts of events to cover up the loss of memory.
• Infantile thiamine deficiency

  • This occurs in various forms and typically affects breastfed infants whose mothers had beriberi.
  • Early on, the infant is constipated, crying, restless, and has emesis.
  • Three forms are recognized:
    • The pure cardiologic or pernicious form is common in infants aged 1-3 months. They present with cyanosis and features of acute cardiac failure. Infants usually die within 2-4 hours, but this type of deficiency responds very rapidly to thiamine.
    • The aphonic form is seen in infants aged 4-6 months. This milder form causes loss of voice due to paralysis of the vocal cords.
    • The pseudomeningitic form is encountered in infants aged 7-9 months. It presents with clinical signs of meningitis, but cerebrospinal fluid findings exclude infection. Vomiting, sweating, and seizures may be present.
• Wernicke-Korsakoff syndrome

  • This is an autosomal recessive genetic disease seen most often in individuals of European descent.
  • Affected patients have transketolases that bind thiamine pyrophosphate 10 times less tightly than normal; thus, the serum levels required to yield maximum enzyme activity are higher. Patients with Wernicke-Korsakoff are thus symptomatic with much less severe thiamine depletion.
  • This syndrome occurs most often in individuals with alcoholism who are malnourished. It is often precipitated by administration of glucose because excessive carbohydrate metabolism exacerbates a subclinical thiamine deficiency.
  • Clinically, it combines features of both Wernicke encephalopathy and Korsakoff psychosis.
• Subclinical thiamine deficiency

  • This deficiency is seen in people with high carbohydrate intake and low thiamine intake.
  • Other at-risk groups include those with increased thiamine requirements because of raised physiological or metabolic demands. Clinical scenarios include pregnancy and lactation, heavy physical exertion, intercurrent illness (eg, cancer, liver diseases, infections, hyperthyroidism), and surgery.
  • This deficiency is rarely encountered in patients with increased losses, such as those seen with dialysis, chronic diuretic use, and malabsorption.
  • Symptoms are usually mild, with anorexia often the presenting symptom. Anorexia is regarded to be a protective phenomenon because continued intake of a high-carbohydrate diet could be detrimental.
  • Other early symptoms include weakness, aching, burning sensation in the hands and feet, indigestion, irritability, and depression. After 6-8 weeks, the only objective signs at rest may be a slight fall in blood pressure and moderate weight loss. After 2-3 months, apathy and weakness become extreme and calf muscle tenderness develops. Also, loss of recent memory, confusion, ataxia, and, sometimes, persistent vomiting occur.
  • Pediatric associations include growth restriction and sudden infant death syndrome (SIDS).

• Wet beriberi (cardiac)

  • Edema
  • Waxy skin
  • Vomiting
  • Widened pulse pressure
  • Systolic flow murmur
  • Gallop rhythm (third heart sound); best heard in left-lateral position during inspiration
  • Jugular venous distension
  • Tachycardia
  • Cardiomegaly
  • Pallor
  • ECG changes (prolonged QT, T-wave inversion, low voltage)
• Acute fulminant cardiovascular beriberi (Shoshin beriberi or occidental beriberi)

  • Breathlessness, cyanosis
  • Wet crackles in lower lung fields
  • Classic heart failure
• Dry beriberi (paralytic or nervous)

  • Pallor
  • Wasting
  • Listlessness
  • Tachycardia
  • Hepatomegaly
  • Symmetric peripheral neuropathy
  • Symmetric paresthesias, especially of the distal extremities, with diminished touch sensation
  • Weakness (starting with feet)
  • Loss of ankle and knee reflexes
  • Normal vibration and pain sensation
• Wernicke disease

  • Irritability, forgetfulness
  • Ataxia
  • Mental confusion
  • Nystagmus (horizontal more common than vertical)
  • Ptosis
  • Ophthalmoplegia
  • Delirium
  • Coma
• Korsakoff psychosis

  • Retrograde amnesia
  • Inability to learn
  • Confabulation
• Wernicke-Korsakoff syndrome - Combined features of both Wernicke disease and Korsakoff psychosis
• Infantile beriberi

  • Physical findings depend on the form but usually begin with nonspecific early findings, including the following:
    • Fatigue
    • Anorexia
    • Headaches
    • Irritability, fatigue
  • The physical findings in acute cardiac infantile beriberi are similar to those found in Shoshin beriberi, often with cyanosis.
  • The physical findings in aphonic infantile beriberi include hoarseness that progresses to a complete loss of crying.
  • The physical findings in pseudomeningeal infantile beriberi include nystagmus, muscle twitching, bulging fontanelle, convulsions and coma.

• Beriberi is caused by thiamine deficiency, which can be the result of different physiologic, dietary, and environmental factors.
• Frequently, more than one risk factor is present.