Childhood adrenoleukodystrophy. Failure of intensive immunosuppression to arrest neurologic progression.

Cyclophosphamide in a dosage of 350 to 700 mg/m2/d was administered for five to 11 days to four patients with childhood adrenoleukodystrophy (ALD) and to one patient with the adult cerebral form of the disease. The rate of neurologic progression in the four patients with childhood ALD did not differ from that of 167 untreated patients with childhood ALD surveyed previously.

Radiation-induced cerebrovascular disease in children.

Radiation-induced internal carotid artery occlusion has not been well recognized previously as a cause of childhood cerebrovascular disease. A child who had received radiation as a neonate for a hemangioma involving the left orbit at the age of 6 years experienced a recurrent right-sided paresis, vascular headaches, and speech difficulties. Angiography showed a hypoplastic left carotid artery with occlusion of both the anterior and middle cerebral arteries. Collateral vessels bypassed the occluded-stenotic segments. Review of the literature showed two additional cases of large vessel occlusion in childhood associated with anastomatic telangiectatic vessel developmental following early radiation therapy of facial hemangioma.

Lymphocyte capping in muscular dystrophy.

We investigated lymphocyte capping in nine patients with muscular dystrophy (seven with Duchenne dystrophy and two with limb-girdle dystrophy), nine carriers, and five normal controls. No differences between the groups were observed. Thus, we have been unable to confirm a recent report that patients with muscular dystrophy, as well as carriers, have a defect in lymphocyte capping.

Congenital hydrocephalus due to villous hypertrophy of the telencephalic choroid plexuses. Case report.

A case of villous hypertrophy or bilateral papilloma of the choroid plexus of the lateral ventricles is reported. The child exhibited known features associated with overproduction of cerebrospinal fluid, hydrocephalus that was difficult to control, ascites after ventriculoperitoneal shunting, and relief after surgical removal of the papillomatous tissue. A unique feature is the complexity of the telencephalic choroid plexuses as shown by computerized tomography and ultrasound in the newborn period.

Cerebral embolism resulting from an intracardiac tumor in tuberous sclerosis.

Tuberous sclerosis was diagnosed in an infant girl during the first 3 days of life on the basis of electrocardiographic and cranial computed tomographic abnormalities. At 19 months of age, neurologic deterioration occurred and repeat computed tomography documented several new cortical lesions while the subaortic mass was markedly reduced in size. The sequence of events suggested cerebral embolization by the cardiac tumor.

Cerebrospinal fluid dynamics in megalencephaly.

Macrocephaly is one of the signs most commonly used in the diagnosis of hydrocephalus. Two children are reported who presented with macrocephaly. The results of neurological examination were normal apart from delay in mental development. Head circumferences were above the 98th percentile. Air studies showed mildly dilated ventricles with no obstruction, and ventriculolumbar perfusions indicated normal rates of cerebrospinal fluid formation and absorption. At seven years of age the children were mildly mentally retarded, with head circumferences above the 98th percentile. In the girl the ventricles were still mildly dilated but in the boy they were normal. It is concluded that the macrocephaly in these two children was the result of progressive megalencephaly and not of abnormal ventricular enlargement (hydrocephalus).

Neonatal respiratory depression and delay in diagnosis in Prader-Willi syndrome.

The authors retrospectively evaluated the diagnoses at four months of age for 48 individuals with known Prader-Willi syndrome. 15 had been diagnosed as having cerebral palsy, and at four months only two of the 48 had been correctly diagnosed as Prader-Willi syndrome. 11 (23 per cent) had had birth asphyxia, compared with an expected rate of 1 per cent. Other perinatal features which occurred more frequently than expected included breech presentation, decreased fetal movements and prolonged gestation. Failure to make an early diagnosis of Prader-Willi syndrome often results in later disability being blamed on the birth process, when instead the child's neonatal problems are secondary to a prenatal condition.