Perlman syndrome: four additional cases and review.

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.

Competitive pulmonary flow in infancy: the effect of respiration.

Superior caval flow during positive pressure mechanical ventilation and spontaneous breathing was investigated by Doppler echocardiography in a neonate with a coexisting superior cavopulmonary shunt and an aortopulmonary shunt. During positive pressure ventilation, retrograde systolic flow in the superior vena cava was recorded, with low velocity anterograde flow. This pattern was reversed during spontaneous respiration. Low intrathoracic pressure plays an important role in maintaining anterograde pulmonary blood flow in patients with this physiology.

[Two children with unusual causes of torticollis: primitive neuroectodermal tumor and Grisel's syndrome]. / Twee kinderen met bijzondere oorzaken van dwangstand van het hoofd: primitieve neuro-ectodermale tumor en syndroom van Grisel.

Two children were presented with a torticollis. One, a 2-year-old girl, had a primitive neuroectodermal tumour of the cervical spinal cord which could not be radically removed surgically (the patient died three days later), the other, a 9-year-old boy, had the syndrome of Grisel. He was treated with antibiotics, head traction and atlantoaxial posterior spondylodesis. Acquired torticollis is a frequent innocent symptom in children with cervical lymphadenopathy following a respiratory tract infection. These cases demonstrate that additional investigation should not be delayed if relief of symptoms is not achieved very soon.

Catastrophic transcatheter baffle fenestration for failing Fontan physiology.

Transcatheter fenestration and balloon dilation of an atrial baffle created from native atrial tissue was attempted in a 15-year-old girl with failing Fontan physiology and protein-losing enteropathy. After transseptal puncture, initial dilations with a 10-mm and 12-mm diameter balloon resulted in an inadequate fenestration, with no significant decrease of right atrial pressure or systemic arterial saturation. Dilation of the fenestration with a 16-mm-diameter balloon produced a tear of the atrial septum and subsequent death. Balloon dilation of native atrial tissue may result in uncontrolled tears of the atrial septum.

Junctional ectopic tachycardia evolving into complete heart block.

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.

Naltrexone and the behavioural action of clonidine in normotensive and spontaneously hypertensive rats.

The present experiments were aimed at the behavioural effects of clonidine and the possible involvement of opiate systems therein. Previous work had shown that opiate antagonists could block the effects of clonidine on blood pressure. In the open-field, clonidine treatment induced a decrease in ambulation and rearing activity. This effect was similar in normotensive Wistar and Wistar-Kyoto rats and in spontaneously hypertensive rats. In neither strain did naltrexone pretreatment influence the behavioural action of clonidine, however. These results do not lend support to the proposed interaction between opiate systems and the central effects of clonidine.