Hereditary sensory autonomic neuropathy Type IV.

Hereditary sensory autonomic neuropathy Type IV is an autosomal recessive disorder due to lack of maturation of small myelinated and unmyelinated fibers of peripheral nerves, which convey sensation of pain and temperature, therefore, resulting in self mutilation. There is anhidrosis due to lack of innervation of normal sweat glands resulting in recurrent episodes of hyperpyrexia. The clinical presentation of two children with this rare disease is described.

Efficacy of oral phenobarbitone in term "at risk" neonates in decreasing neonatal hyperbilirubinemia: a randomized double-blinded, placebo controlled trial.

OBJECTIVE: To evaluate the efficacy of oral phenobarbitone in "at risk " term neonates (with high cord bilirubin) in decreasing hyperbilirubinemia. DESIGN: Double blind, placebo-control, randomized trial. SETTING: Tertiary level neonatal unit. OUTCOME: Primary-hyperbilirubinemia defined as total serum bilirubin (TSB) greater than 13 mg/dL. Secondary-TSB at 72 +/- 12 hr, need for phototherapy or exchange transfusion and side effects of phenobarbitone therapy. METHODS: All consecutively born term healthy neonates with cord bilirubin > or = 2.5 mg/dL were randomly assigned to receive either phenobarbitone (n = 37) or placebo (n = 38) after obtaining informed consent. Phenobarbitone was administered orally (5 mg/kg/day) for 3 days starting within 12 hours of birth. The neonates were followed up till seven days of life. TSB was estimated in neonates who developed jaundice with clinically assessed level of 8-10 mg/dL and at 72 +/-12 hours of age in 55 neonates. RESULTS: The baseline characteristics were similar in two groups. There was no significant reduction in incidence of hyperbilirubinemia in phenobarbitone group compared to in placebo group (6/37 (16.2%) versus 13/38 (34.3%); RR 0.47, 95% confidence interval: 0.20-1.11; risk difference: -18.1%, 95% confidence interval: -39.5 to 3.3%). However TSB at 72 +/-12 hours in phenobarbitone group (mean +/- S.D: 10.0 +/- 3.7 mg/dL) was significantly lesser than in placebo group (mean +/- S.D: 12.3 +/- 3.3 mg/dL) (difference of means: -2.3 mg/dL, 95% confidence interval: -3.9 to -0.7 mg/dl, P = 0.018). No significant difference with respect to need for treatment was observed in two groups. No significant adverse effects of phenobarbitone were noted. CONCLUSIONS: Prophylactic phenobarbitone is not helpful in reducing the incidence of hyper-bilirubinemia in "at risk" term neonates.