Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor.

Transition from congenital junctional ectopic tachycardia to complete AV block was observed in an 8 month old girl, over a 36 hour period, during initial hospital admission. Two years later she had evidence of a rapidly increasing left ventricular end diastolic diameter, associated with lowest heart rates during sleep of < 30 beats/min. A transvenous permanent pacemaker was therefore implanted. This finding supports the idea that a pathological process in the area of the AV junction, initially presenting as junctional ectopic tachycardia may later extend to sudden complete atrioventricular block. (Heart 1998;80:627-628) Keywords: junctional ectopic tachycardia; heart block; congenital heart disease; paediatrics Junctional ectopic tachycardia (JET) is one of the rarest forms of supraventricular tachycardia in infancy. The mechanisms of termination of the congenital form of JET are unclear from most clinical series.1 2 Histological studies have shown His bundle degeneration and Purkinje cell tumours as well as fibroelastosis.3 Progression to complete atrioventricular block has been proposed, 3 but has not been described in the clinical setting. We present a girl who presented with JET at the age of 8 months who went into complete AV block during hospital admission 36 hours later. Case reportAn 8 month old girl presented to her local hospital after a period of crying, apnoea, and cyanosis at home. After stimulation she had recovered fully but at the hospital tachycardia was noted at a frequency of 230 beats/min. The ECG at admission showed a regular, narrow QRS complex tachycardia with AV dissociation consistent with the diagnosis JET (fig 1). Echocardiography showed an anatomically normal heart with decreased contractility (shortening fraction 15%) and left ventricular dilatation, suggesting longstanding tachycardia. Intravenous adenosine was ineVective, and digoxin was started (10 µg/kg at 8 hourly intervals). Thirty six hours later she exhibited complete AV dissociation with QRS rate of 100 beats/min (fig 2), and was discharged from hospital. At follow up ventricular function had normalised within three months (shortening fraction 38%). Two years later digoxin was discontinued. Routine Holter recordings at follow up showed no episodes of tachyarrhythmia and she was asymptomatic. At the age of 2 years and 8 months, she had evidence of a rapidly increasing left ventricular end diastolic diameter, associated with lowest heart rates during sleep of < 30 beats/min. A transvenous permanent pacemaker was therefore implanted.

Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor.

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