Neurologic anomalies of Perrault syndrome.

We report on an 18-year-old man with neurosensory hearing loss and his sister with neurosensory hearing loss, ovarian dysgenesis, mental retardation, generalized ataxia of the trunk and limbs, and saccadic dysmetria. A CT scan showed cerebellar hypoplasia. The cardinal manifestations of Perrault syndrome in females are neurosensory hearing loss and ovarian dysgenesis. Other anomalies, including neurologic and skeletal, have been reported in other individuals with Perrault syndrome. We review the neurologic anomalies in previous patients with Perrault syndrome. Neurologic data are available on 14 of 21 girls; 7 of 14 had neurologic abnormalities. The high incidence of neurologic anomalies suggest that ataxia or mental retardation may not be just coincidental findings, but pleiotropic manifestations of Perrault syndrome.

Ptosis associated with sinusitis.

An adolescent male developed eye pain and a drooping lid. Imaging revealed adjacent pansinusitis and a swollen levator palpebrae and superior rectus muscle. Compression of a branch of the oculomotor nerve is the postulated cause because vertical eye movements were normal.

Connatal Leigh disease.

Two children are described with pathology-proven Leigh disease. Rather than the typical degenerative course with loss of acquired development, they presented with a static encephalopathy manifested by seizures from birth and failure to acquire any milestones. A similar connatal presentation has been reported in other degenerative disorders, such as Pelizaeus-Merzbacher disease. Heredodegenerative disorders should be considered when no cause is discovered for a severe, congenital, static encephalopathy.

Transient dystonia of infancy, a result of intrauterine cocaine exposure?

Intrauterine cocaine exposure has been associated with multiple transient and permanent neurologic sequelae. Although dystonic reactions have been reported in cocaine users, infantile dystonia following intrauterine exposure has not. We describe 4 infants testing positive for cocaine metabolite at birth with subsequent transient dystonic reactions, beginning at 3 hours to 3 months of age and persisting for several months.

Myelopathy secondary to neonatal bacterial meningitis.

Myelopathy is an infrequently reported complication of bacterial meningitis. Four patients with neonatal meningitis and cervical myelopathy are reported. This complication may be more frequent than presumed and should be closely assessed during evaluation. The conditions of most previously reported survivors improved or resolved and the majority involved the cervical spinal cord.

Leigh disease presenting as Guillain-Barré syndrome.

A 4-year-old male evidenced the criteria for the diagnosis of Guillain-Barré syndrome. Eventually a diagnosis of Leigh disease was made based on magnetic resonance imaging and mitochondrial enzyme deficiencies. Although chronic neuropathy has been reported with Leigh disease, this is the first reported patient with acute symmetric motor polyneuropathy.

Rett syndrome and mitochondrial enzyme deficiencies.

The etiology of Rett syndrome is unknown. Structural mitochondrial abnormalities have been described in muscle in patients with Rett syndrome. We report three children with Rett syndrome and normal muscle mitochondrial structure on light and electron microscopy. However, all had abnormalities in mitochondrial respiratory chain enzymes.

CHARGE and Joubert syndromes: are they a single disorder?

A patient with the CHARGE association (Coloboma of the eye, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, and Ear anomalies or deafness) had intermittent hyperpnea and cerebellar hypoplasia; therefore, he had both the CHARGE association and Joubert syndrome. The 2 syndromes have not been previously linked. We discuss their similarities and review the literature.

Familial spastic paraparesis: a case of a mitochondrial disorder.

Familial spastic paraparesis is characterized by progressive gait disturbance without associated sensory, cerebellar, or cranial nerve deficits. Mitochondrial disorders are associated with heterogenic clinical presentations, though not with spastic paraparesis. A patient with familial spastic paraparesis had deficiencies of respiratory chain enzyme complex I, III, and IV. Progressive spasticity was arrested after treatment with coenzyme Q, carnitine, vitamin C and K. Familial spastic paraparesis may represent a mitochondrial disorder.

Occluded fourth ventricle after multiple shunt revisions for hydrocephalus.

Trapped occluded fourth ventricle has been considered a rare occurrence. Intraventricular hemorrhage followed by repeated shunt revisions may increase the risk (8/47 cases). Because premature infants with intraventricular hemorrhage and shunted hydrocephalus often have preexisting neurologic abnormalities, dilation may produce clinically undetected further neurologic damage. Shunting improved function in both currently treated as well as 13 of 14 previously treated patients. In light of this observation, the importance of recognition is stressed.

Neonatal burst suppression: its developmental significance.

Burst suppression was recorded on electroencephalograms of 15 of 274 term infants (5.4%) in our hospital within a 5 year period. These 15 infants were examined, their perinatal histories reviewed, and detailed neurodevelopmental testing performed to examine the prognostic significance of burst suppression. Fourteen children (93%) had poor outcomes. Four (26%) died in infancy. Ten survivors were followed for a mean of 30 months (range: 18-61 months). Nine have severe motor deficits, 6 require total custodial care, 5 have intractable epilepsy, and 3 are blind. Their mean Gesell Developmental Quotient was 28; a score of less than 68 suggests severe retardation. A single patient, the only 1 with a perinatal history complicated by an easily-treated bacterial meningitis, achieved normal growth and development. This study documents the dire prognosis of neonatal burst suppression. The appearance of burst suppression, though transient, portended death or severe neurodevelopmental disability in 93% of our patients.

The open opercular sign: diagnosis and significance.

Four children with varying clinical manifestations, but with the unifying feature of severe developmental delay, had bilateral enlargement of the sylvian fissure confirmed by magnetic resonance imaging (MRI). Subsequently, we examined 125 consecutive MRI scans of the heads of pediatric patients, looking for this insular exposure, and did not find it. Pathological correlation in 1 child revealed arhinencephaly and abnormal gyral formation; another is known to have migrational abnormalities. We suggest that the open operculum is a sign of arrested development and is associated with other anomalies and a poor prognosis.

Candida meningitis: clinical and radiographic diagnosis.

Two patients with Candida meningitis are presented to emphasize cranial polyneuropathy and ventricular isolation with septation. These clinical and radiographic criteria can be used for early diagnosis and treatment.

Neonatal stroke: description of patients and investigation into pathogenesis.

We report 15 patients with neonatal stroke reviewed retrospectively. Twelve patients had left middle cerebral artery involvement--the same ratio observed in 36 previously reported patients with strokes. We studied 20 normal neonates prospectively to determine whether a difference in flow velocity could be detected between the left and right middle cerebral arteries; pulsed Doppler ultrasound, which compared both velocities, demonstrated no significant difference.