Cardic beriberi or Shoshin beriberi

CARDIAC BERIBERI OR SHOSHIN BERIBERI

I.      DEFINITION :

Infant Beriberi, a disease caused by the mother's thiamine deficiency. The heart of infant is primarily affected and these infants have classical heart failure and sudden death.

II.      ETIOLOGY

·    Beriberi can occur in breast-fed infants when the mother’s body is lacking in thiamine.

The condition can also affect infants who are fed anusual formulas that don’t have enough

thiamine.

·    Beriberi may be found in mother whose diet consists mainly of polished white rice, which is very low in thiamine because the thiamin-bearing husk has been removed.

·    It can also be seen in mother chronic alcoholics, arsenic poisoning

·    A rare condition known as genetic beriberi is passed down through families. People with genetic beriberi lose the ability to absorb thiamine from foods

·    The peak prevalence of this form occurs in fat breastfed babies of 2-12 months with predominant pick of 3 months of age.(14)

III.      PATHOPHYSIOLOGY

·    Thiamin acts as coenzyme to produce acetylcholine, a neurotransmitter(messenger between nerve fibers) :

o It is needed as TTP for nerve and muscle function..TTP (thiamin triphosphate )

activates ion channels in nerve and muscle cells by phosphorylating them.

The flow of the electrolytes, such as sodium and potassium in and out of the cell plays a role in nerve impulse conduction and voluntary muscle action

o It is essential as TPP for metabolism of carbohydrates into simple sugars, such as glucose. Thiamin Pyrophosphate is a coenzyme for pyruvate dehydrogenase complex and alpha-ketogluterate dehyrgoenase complex which is required in the Citric Acid Cycle(Kreb cycle ) to extract energy from food . In this process TPP acts as a dehydrogenase and removes CO2 .

o Phosphorylation- the process of transferring a phosphate group,from one molecule to  another. In this illustration the phosphate is being taken from the Adenosine

Triphophate and placed on the protein leaving Adenosine Diphosphate .

·    Deficiency of thiamine affects the cardiovascular, muscular, nervous, and GI systems :

o Cardiomegaly and congestive heart failure, with a characteristic high cardiac

output presumablyrelated to low peripheral resistance, is seen in thiamin deficiency

and is termed cardiac (Shoshin) beriberi.

o Lactate acidosis : due to pyruvate dehydrogenase complexactivity decreased, acetic acid and pyruvic acid  increase . the accumulation of lactic acid in the brain, may lead to impairment of respiratory and kidney function.

o Gastrointestinal System: Thiamin deficiency can also lead to nausea,lack of appetite, weight loss and constipation . Carbohydrate digestion and the metabolism of glucose are diminished.

o Neurologic Problems : reduces  absorption ,alters metabolism and depletes body stores. mental confusion, visualdisturbances , staggering gait, depression, irritability and reduced ability to concentrate are later followed by fatigue, muscle cramps and various pains.

IV.      CLINICAL ASSESSMENT

1.   High risk mother:

·    Low socio-economic status

·    Peripheral oedema and tender sole

·    Intermittent paraesthesiae in the hands and feet during and after pregnancy without subjective or clinical evidence of neurological deficit.

·    Excessive alcohol intake

2.   Infant present history

·    Breast feeding from high risk mother

·    Sibling died with the same symptoms

3.   Urgent clinical signs and symptoms

·    Acute respiratory distress and characteristic horse voice (Aphonic beriberi)14

·    Lethargy or drowsiness14

·    Shortness of breath (clear lung) with or without shock7

·    Central and peripheral cyanosis10, 11, 12

·    Liver enlarged and low urine output14,7

·    Convulsion14

·    Poor feeding10, 11, 12,13

4.   Imaging Studies

·    Chest radiography: cardiomegaly (mean cardiothoracic ratio 56,1%)

·    Heart ultrasound14:

o Cardiomegaly (right ventricular hypertrophy and dilatation)

o Pulmonary arterial hypertension

o Tricuspid valve regurgitation

·    MRI descriptions in this condition. These infants had involvement of the frontal lobes and basal ganglia, in addition to the lesions present in the periaqueductal

region, thalami, and the mammillary bodies that have been described in adults. The lesions that have been noted were described as symmetric and hyperdense. Brainstem involvement was noted. In small numbers of patients severe frontal

damage was noted in long term follow-up with a loss of parenchyma and atrophy of the basal ganglia and thalami in some.

5.   Laboratory Study

·    Thrombocytosis ( Platelet count > 400000/mm3 80% of cases)14

·    Metabolic acidosis (62% of cases)14

·    Thiamin in blood or urine

·    Erythrocyte transketolase (ETK) activity test

·    Blood lactate & pyruvate

Note: The most rapid, and thus the best diagnostic test for beriberi in urgent situations, is observing a clinical response to administration of intravenous thiamine (few hours duration)

V.      MANAGEMENT: Assess ABCD:

A – Airway

·    Position the head - neutral position (<1 year old), or sniffing position  (1 year of age)

·    Open airway - Head tilt and chin lift, or jaw thrust

·    Use oro-pharyngeal airway if required.

B – Breathing

·    If respiration is adequate, administer oxygen by facemask at 10 l/min.

·    If the child is not breathing, commence artificial ventilation  ( See APLS)

·       Intubation should only be attempted by those credentialed and skilled to do

(see APLS)

C – Circulation

·    If there are no signs of circulation, i.e. no pulse, slow pulse (<60) or you are not sure, commence CPR (cardiopulmonary resuscitation), and determine the cardiac rhythm - display the ECG

D- Drugs to consider: Thiamine2

·    Day 1: Dilute 1 ml of thiamine (vial 1 ml - 100 mg) with 9 ml of water for injection. Inject 1 ml of this diluted solution (10-mg thiamine) by slow IV. Repeat after 30 minutes. Then, give 25 mg by IM to  complete the first day treatment.  If

IV access is not possible, give 50 mg/day by IM divided in 2 injections over the first 24 hours.

After thiamine administration ,the smaller dose sodium bicarbonate may also be prescribed for management of lactic acidosis13

·    Day 2: It is usually possible to switch to PO treatment:

o If the infant is breast-fed: treat the mother with thiamine PO 100 mg/day for 1 month.

o If the child has been weaned: treat the child: with thiamine PO 10 mg/day for 1 month.

VI.      PATIENT/PARENT EDUCATION:

Population at risk must be educated regarding:

·     The diversification of diet.

·     The incorporation of foods rich in thiamine (liver, brown rice, green leaves, and potatoes).

·    Proper food preparation (shorter cooking time for vegetables, reduction in amount of rice washing prior to cooking).

·    The value of whole grains.

·    Avoidance of alcohol.

·    Thiamine supplementation.

REFERENCES

1.   Clinical Practice Guidelines, Dept. of General Medicine, The royal children's hospital

Melbourne. Australia.

2.   Clinical Practice Guidelines, for referral hospital,Cambodge,1999

3.   Katsura E, Oiso T, Beiberi, WHO, Chapiter 9,136-145

4.   Simon S Rabinowitz, Batres, Sheela Moorthy, Beriberi,  eMedicine Specialties > Pediatrics: General Medicine > Nutrition, Sep 18, 2009

5.   Nicola J et al, Beriberi. The major cause mortality in Caren refusees, Transaction of the royal society of tropical medicine and hygiene (2003) 97, 2051-2055.

6.   Loma-Osorio P., Penafiel P., Doltra A., Sionis A., Bosch, Shoshin Beriberi Mimicking a High-risk Non-ST-Segment Elevation Acute Coronary Syndrome with Cardiogenic Shock: When the Arteries are Not Guilty, J Emerg Med. 2008 Oct 17.

7.   Raidoo DP et al, Clinical diagnosis of cardiac beriberi, SAMJ, Volum 77, 3 febr 1990.

8.   Greespon J,Samuel M Alaish, Shoshin Beriberi mimicking central line sepsis in a child with short bowel line syndrom,  world journal of pediatrics, volum6 N 04, november,2010

9.   AVIVA FATTAL-VALEVSKI, IRIS AZOURI-FATTAL, and al, Delayed language development due to infantile thiamine deficiency, developmental medicine and child neurology, original article, ª The Authors. Journal compilation ª Mac Keith Press 2008,DOI:

10.1111/j.1469-8749.2008.03161.x .

10. Christine Luxemburger 1'2'3 , Nicholas J. White 1'2'3 , Feiko ter Kuile l'e, H. M. Singh 4., Ir6ne Ailier-Frachon s,Mya Ohn 1, Tan Chongsuphajaisiddhi 2 and Francois Nosten, Beri- beri: the major cause of infant mortality in Karen refugees, TRANSACTIONS OF THE ROYAL SOCIETY OF TROPICAL MEDICINE AND HYGIENE (2003) 97, 251-255.

11. Douangdao Soukaloun1, Sue J. Lee2,3, Karen Chamberlain4, Ann M. Taylor2, Mayfong Mayxay1,2,5, Kongkham Sisouk1, Bandit Soumphonphakdy1, Khaysy Latsavong1, Kongsin Akkhavong1, DouangkhamPhommachanh1, Vanmaly Sengmeuang1, Khonsavanh Luangxay1, Theresa McDonagh6, Nicholas J, Erythrocyte Transketolase Activity, Markers of

Cardiac Dysfunction and the Diagnosis of Infantile Beriberi, PL0s neglected tropical diseases, February 2011 | Volume 5 | Issue 2 | e971.

12. D. P. NAIDOO, V. GATHIRAM, A. SADHABIRISS, F. HASSEN, Clinical diagnosis of cardiac beriberi, SAMJ VOL 77 3 FEB 1990.

13. D. P. NAIDOO, Beriberi heart disease in Durban, A retrospective study, SAMT VOL 72 15

AUG 1987.

14. Beriberi known as Kantha Bopha Syndrom (KB Sd), Kantha Bopha Children's Hospital, Cambodia