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.

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.

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder for which the biochemical defect is as yet unknown. Recently, two cloned segments of human X-chromosome DNA have been described which detect structural alterations within or near the genetic locus responsible for the disorder. Both of these cloned segments were described as tightly linked to the locus and were capable of detecting deletions in the DNA of boys affected with DMD. In an attempt to determine more precisely the occurrence of these deletions within a large population of DMD patients and the accuracy of one of the segments, DXS164 (pERT87), in determining the inheritance of the DMD X chromosome, the subclones 1, 8 and 15 were made available to many investigators throughout the world. Here we describe the combined results of more than 20 research laboratories with respect to the occurrence of deletions at the DXS164 locus in DNA samples isolated from patients with DMD and Becker muscular dystrophy (BMD). The results indicate that the DXS164 locus apparently recombines with DMD 5% of the time, but is probably located between independent sites of mutation which yield DMD. The breakpoints of some deletions are delineated within the DXS164 locus, and it is evident that the deletions at the DMD locus are frequent and extremely large.

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.

Neuropsychological impairment in Duchenne muscular dystrophy.

Fourteen younger (ages 6 to 10 years) and 11 older (ages 11 to 16 years) Duchenne Muscular Dystrophy (DMD) patients were tested with the WISC-R and neuropsychological language, visual-motor, and motor tasks. Older boys had an average IQ; younger boys were in the low average IQ range. Younger DMD boys were inferior to the older DMD group on tasks requiring some language and attentional-organizational skills, but not on visual-motor tasks. Older DMD boys were inferior on motor tasks. Results suggest that the reported low cognitive skills in DMD patients are not fixed or global, but reflect selective deficits in the younger boys. Possible bases for age differences in performance are discussed.

Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness.

Six patients are described in whom facial diplegia occurred in the first year of life, with subsequent development of facioscapulohumeral dystrophy. All had severe progressive disability prior to adolescence. Facial involvement did not include extraocular muscles. All six patients had a sensorineural hearing loss. Evidence of a mildly affected parent was found in three families. Progressive and severe facioscapulohumeral dystrophy accompanied by facial diplegia and sensorineural hearing loss may represent a separate genetic form of facioscapulohumeral dystrophy.

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.

Childhood subgaleal hematoma following minor head trauma.

Subgaleal hematoma developed one to eight days after minor head trauma in four children and in two infants, one with presumed trauma. These six children had no evidence of fracture or abnormality of coagulation. Hemorrhage into the subgaleal space resulted most likely from either radial or tangential forces applied to blood vessels within the subgaleal space.

Syndrome of opsoclonus-myoclonus caused by Coxsackie B3 infection.

Coxsackie B3 was cultured from 2 children who presented within two weeks of each other from the Cape Cod, Massachusetts, area showing opsoclonus and myoclonus. The organism was recovered from the cerebrospinal fluid of 1 patient and from the stools of both. Both children had cerebrospinal fluid pleocytosis and gradual, spontaneous resolution of their symptoms.

Childhood multiple sclerosis: clinical features and demonstration of changes in T cell subsets with disease activity.

Using monoclonal antibodies that identify T cell subsets in human beings (T4 = inducer cell; T5 = suppressor/cytotoxic cell), we have previously shown that most patients with multiple sclerosis (MS) have decreased T5 cells and an elevated T4:T5 ratio during periods of disease activity. We have recently studied three children with MS beginning at 4 years 11 months, 101/2 years, and 2 years 11 months of age. Clinical symptoms included a relapsing brainstem syndrome in the first, Devic syndrome and recurrent optic neuritis in the second, and multiple attacks with accumulating neurological deficits in the third. Two of these children represent the youngest cases of MS yet reported. In each child, circulating T5 cells were reduced or absent during an acute exacerbation of disease; following stabilization, T5 cells returned and the T4:T5 ratio became normal. No changes in T cell subsets were seen in a group of age-matched healthy children or in children suffering from other neurological diseases. Our finding that young children with active MS have a pattern of T cell abnormalities identical to that of adult MS patients suggests that the same pathophysiological process which causes MS in adults occurs in young children as well.

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.

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.

Anticerebral oedema therapy in Reye's syndrome.

Sixteen patients with Reye's syndrome were seen over a 3-year period and treated with conservative management with an overall mortality of 31%. 6 of the 16 had illness limited to stages II and III. Intensive therapy of suspected cerebral oedema, with careful monitoring of serum osmolarity, was associated with survival in 5 of 10 patients with stage IV disease. The risks of lumbar puncture in the presence of cerebral oedema (stages III-IV) are emphasized. A change in clinical status (usually a reversal to a less severe stage and an improved electroencephalogram) was seen within hours of starting anticerebral oedema therapy. Neurological sequelae (memory deficit, hemiparesis, hemiballismic movements, and delayed motor milestones) that were present in stage IV survivors at discharge were absent 12 months after discharge. Conservative supportive management emphasizing treatment of presumed cerebral oedema in severe cases of Reye's syndrome has a mortality comparable to that occurring in exchange transfusion or peritoneal dialysis. This form of therapy should be included in controlled trials to determine which form of therapy is optimal.

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).