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Re: Intradermal histamine test for familial dysautonomia
The Journal of P E D I A T R I C S
635
Letters to the Editor
Re: Intradermal histamine test for Jamilial dysautonomia
To the Editor: The intradermal histamine test has been reported by Smith and Dancis to be of diagnostic value in familial dysautonomia (J. PEDIAT. 63: 889, 1963). The youngest infant with dysautonomia verified by this test was 10 months of age. We performed a series of control tests on 15 newborn infants employing a high dilution (10 -4) of histamine phosphate, and found that they had the same normal pattern of reaction as older infants and children. A 5-day-old baby (who was presented to one of us [H. B.] was thought to have Riley-Day syndrome). The impression was based upon the clinical findings of marked hypotonia, absence of deep tendon reflexes, and poor feeding, and the fact that a sibling born to these Jewish parents 2 years previously had similar though more severe symptoms and died of pneumonia at the age of 3 weeks.
Through the courtesy of Dr. Herbert M. Porter, the infant's pediatrician, we were permitted to perform an intradermal histamine test when the child was 10 days of age. The reaction to 0.03 ml. of histamine phosphate (10 -4) was of the type described by Smith and Dancis as characteristic of familial dysautonomia: no development of the peripheral flare, but prompt formation of a normal wheal surrounded by a 1 mm. wide reddish purple marginal area. Further course of the patient will determine whether the diagnosis is correct. If so, the histamine test will have been shown to be of considerable value in recognizing the newborn with this disease. t I A N S BEHRENDT AND MARVIN GREEN N E W YORK~ MEDICAL COLLEGE N E W YORK~ N, Y.
Reply To the Editor: This interesting brief note by Drs. Behrendt and Green appears likely to document, at birth, the validity of the intradermal histamine test in the diagnosis of familial dysautonomia. This would provide objective evidence that the neurologic defect is already well developed, a fact also indicated by the early onset of symptoms. Two additional tests may be used to verify the diagnosls--the response to one drop of 2.5 per cent mecholyl, freshly prepared, instilled into the conjunctival sac and the examination of the tongue for fungiform papillae. The former
produces miosis within 30 minutes in about 90 per cent of patients with dysautonomia. Fungiform papillae have been absent from the tip of the tongue in all cases examined so far, including a 3-week-old infant. Neither test has been applied at birth but both should be positive since the neurologic defect appears to be present at or before birth. These observations will shortly be reported in detail. A. SMITI-I~ M.D., AND j . DANCIS~ M.D. DEPARTMENT OF PEDIATRICS NEW YORK
UNIVERSITY SCI-IOOL OF MEDICINE
N E W YORK~ N. Y.
635
Letters to the Editor
Re: Intradermal histamine test for Jamilial dysautonomia
To the Editor: The intradermal histamine test has been reported by Smith and Dancis to be of diagnostic value in familial dysautonomia (J. PEDIAT. 63: 889, 1963). The youngest infant with dysautonomia verified by this test was 10 months of age. We performed a series of control tests on 15 newborn infants employing a high dilution (10 -4) of histamine phosphate, and found that they had the same normal pattern of reaction as older infants and children. A 5-day-old baby (who was presented to one of us [H. B.] was thought to have Riley-Day syndrome). The impression was based upon the clinical findings of marked hypotonia, absence of deep tendon reflexes, and poor feeding, and the fact that a sibling born to these Jewish parents 2 years previously had similar though more severe symptoms and died of pneumonia at the age of 3 weeks.
Through the courtesy of Dr. Herbert M. Porter, the infant's pediatrician, we were permitted to perform an intradermal histamine test when the child was 10 days of age. The reaction to 0.03 ml. of histamine phosphate (10 -4) was of the type described by Smith and Dancis as characteristic of familial dysautonomia: no development of the peripheral flare, but prompt formation of a normal wheal surrounded by a 1 mm. wide reddish purple marginal area. Further course of the patient will determine whether the diagnosis is correct. If so, the histamine test will have been shown to be of considerable value in recognizing the newborn with this disease. t I A N S BEHRENDT AND MARVIN GREEN N E W YORK~ MEDICAL COLLEGE N E W YORK~ N, Y.
Reply To the Editor: This interesting brief note by Drs. Behrendt and Green appears likely to document, at birth, the validity of the intradermal histamine test in the diagnosis of familial dysautonomia. This would provide objective evidence that the neurologic defect is already well developed, a fact also indicated by the early onset of symptoms. Two additional tests may be used to verify the diagnosls--the response to one drop of 2.5 per cent mecholyl, freshly prepared, instilled into the conjunctival sac and the examination of the tongue for fungiform papillae. The former
produces miosis within 30 minutes in about 90 per cent of patients with dysautonomia. Fungiform papillae have been absent from the tip of the tongue in all cases examined so far, including a 3-week-old infant. Neither test has been applied at birth but both should be positive since the neurologic defect appears to be present at or before birth. These observations will shortly be reported in detail. A. SMITI-I~ M.D., AND j . DANCIS~ M.D. DEPARTMENT OF PEDIATRICS NEW YORK
UNIVERSITY SCI-IOOL OF MEDICINE
N E W YORK~ N. Y.