Lindex #1509

Levine SL, Manniello RL, Farrell PM

Familial Dysautonomia: Unusual Presentation in an Infant of Non-Jewish Ancestry

Journal of Pediatrics

1977; 90:79-81

In view of the prevailing notion that Familial Dysautonomia or Riley-Day Syndrome was a disorder found exclusively in Jewish children of eastern european ancestry, the authors reported on a case of this disease in whom no Jewish or eastern european ancestry could be traced. It was believed that this was the first report of Familial Dysautonomia diagnosed in a non-Jew.

The patient, a male, was born at term to Brazilian parents after an uncomplicated pregnancy. He was delivered vaginally with a vertex presentation weighing 2.78 kg. He was meconium-stained, apneic, and hypotonic with Apgar scores of 2 at one minute and 4 at five minutes. He was cyanotic and in respiratory distress. There was a simian crease of the left palm, bilateral equinovarus deformities, epicanthic folds, micrognathia, and a triangular facies. X-rays of the chest revealed evidence of massive aspiration and bilateral pneumonitis for which he was given oxygen for three days and a ten day course of parenteral antibiotic therapy. While his respiratory symptoms resolved there was an increase in hypotonia and weakness. The child also had watery diarrhea despite a variety of formulas as well as mechanical difficulties from the time of first nipple feeding. A barium swallow procedure with cineradiography revealed pharyngeal incoordination with pooling of liquids of hypopharynx as well as aspiration in the lungs on swallowing. This necessitated a gastronomy tube which was inserted at 1 month of age.

The youngster also presented with delayed motor milestones, skin blotching with excitement, breath holding spells, unexplained fever, frequent pneumonia, short stature, reduced or absent over flow tearing, impaired taste perception, absent lingual papillae, hyperreflexia, impaired pain perception, postural hypotension, hyperhidrosis, absent axon flare after intradermal histamine, and miosis after conjunctival methacholine.

Initial diagnostic studies of the child revealed 46 XY karyotype with normal banding, normal sweat electrolyte concentrations with an excessive volume of sweat produced by pilocarpine iontophoresis, normal serum and urine amino acid values, electroencephalogram, serum creatinine phosphokinase, serum glutamic oxalacetic transaminase, serum glutamic pyruvic transaminase and aldolase activities, electromyogram pattern. There was a striking lack of response to electrical stimulus as well as to the probing electromyogram needle.

The child had persistent diarrhea and poor growth and at 5 1/2 months of age was 3.2 kg and 53 cm in height. His triceps skim fold thickness was 2 mm. Studies at the National Institute of Health Clinical Center revealed that intradermal injection of 0.03 ml histamine sulfate produced a 1 cm, painless wheal with a 5 mm rim of erythema. The reaction disappeared within 30 minutes in contrast to the dermal reaction in a control who had a 6 cm painful flare that lasted more than an hour. Marked miosis in the right eye was produced with instillation of 2.5 percent methacholine compared with the left. Less than 5 mm of tears were produced with Schirmer testing on each side. Predigested casein-glucose-MCT formula or pregestimil helped cause the diarrhea to abate. The infant began to gain weight and was discharged at 9 months of age with a weight of 4.6 kg; a length of 59.5 cm; and triceps skin fold thickness of 6 mm.

The authors warned that while the diagnosis of Familial Dysautonomia can occur in the absence of Jewish ancestry and while this particular patient confirmed to the phenotypic criteria for the disease it may not necessarily be genotypically identical with the disorder as it occurs in Ashkenazic Jews.