Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia.

A 5-year-old girl diagnosed with biotinidase deficiency at 9 months of age demonstrated limb and axial hypotonia which improved on biotin therapy. In this patient, electromyographic (EMG) studies prior to treatment were compatible with a mild myopathic process. Serial EMGs performed on biotin therapy demonstrated a gradual resolution of the myopathy. This is the first documented case of a reversible myopathy in a patient with biotinidase deficiency, which may contribute to the clinical findings of hypotonia.

Lissencephaly-pachygyria associated with congenital cytomegalovirus infection.

We report the presence of major cerebral migrational defects in five severely, multiply handicapped children with congenital cytomegalovirus (CMV) infection. These patients had both computed tomographic (CT) scan and magnetic resonance imaging (MRI) evidence of marked migrational central nervous system defects consistent anatomically with the spectrum of lissencephaly-pachygyria, a disorder commonly idiopathic or associated with chromosomal abnormalities or with unknown early gestational insults. Neuroradiologic features included broad, flat gyri, shallow sulci, incomplete opercularization, ventriculomegaly, periventricular calcifications, and white-matter hypodensity on CT scans or increased signal intensity on long-TR MRI scans. Evidence for congenital CMV infection included prenatal onset of microcephaly, periventricular calcifications, neonatal jaundice, hepatomegaly, elevated CMV-specific immunoglobulin M, or viral isolation from urine. Previous reports of the neurologic sequelae of CMV have emphasized varying degrees of psychomotor retardation, cerebral palsy and epilepsy due to polymicrogyria, periventricular calcification, microcephaly, or rarely, hydrocephalus. Our patients appear to represent extremely severe examples of the effects of CMV on neurologic growth, maturation, and development. Recognition of these severe migrational abnormalities was improved by use of MRI, a technique that affords superior definition of the nature and extent of gyral and white-matter abnormalities. We suggest that these abnormalities may be more common than has previously been recognized.

Pachygyriclike changes: topographic appearance at MR imaging and CT and correlation with neurologic status.

Studies of 23 pediatric patients with pachygyriclike changes (PLCs) examined with computed tomography (CT) and magnetic resonance (MR) imaging were reviewed to determine topographic patterns and correlate them with various clinical syndromes and degrees of neurologic impairment. Three types of topographic distributions were identified: unilateral, diffuse, and bilateral nondiffuse (of which eight of 10 showed frontotemporal predominance). PLCs were an isolated finding in seven patients, were associated with various congenital syndromes in nine patients, and were associated with congenital infection in seven patients, six of whom showed marked white matter abnormalities. Although most patients had severe developmental delay, three with nondiffuse PLCs had less severe impairment, permitting less required care.

Outbreak of poliomyelitis-like paralysis associated with enterovirus 71.

In the summer of 1987 five children were seen at The Children's Hospital of Philadelphia because of acute onset of flaccid paralysis of an arm or leg(s). Although there were documented exposures to oral poliovirus vaccine and coxsackievirus B3 in some of the cases, the clinical, epidemiologic and laboratory findings indicate that enterovirus 71 was the common etiologic agent for this unusual outbreak of poliomyelitis-like paralysis. Of the five children three recovered completely; the other two had residual paralysis with weakness and muscle wasting. Imaging studies of the spinal cord in the two children with residual paralysis revealed defects in the ventral aspect of the spinal cord. This series of paralytic cases attributed to enterovirus 71 is the largest reported in the United States.