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Our prospective cohort study of extremely low gestational age newborns evaluated the association of neonatal head ultrasound abnormalities with cerebral palsy at age 2 years. Cranial ultrasounds in 1053 infants were read with respect to intraventricular hemorrhage, ventriculomegaly, and echolucency, by multiple sonologists. Standardized neurological examinations classified cerebral palsy, and functional impairment was assessed. Forty-four percent with ventriculomegaly and 52% with echolucency developed cerebral palsy. Compared with no ultrasound abnormalities, children with echolucency were 24 times more likely to have quadriparesis and 29 times more likely to have hemiparesis. Children with ventriculomegaly were 17 times more likely to have quadriparesis or hemiparesis. Forty-three percent of children with cerebral palsy had normal head ultrasound. Focal white matter damage (echolucency) and diffuse damage (late ventriculomegaly) are associated with a high probability of cerebral palsy, especially quadriparesis. Nearly half the cerebral palsy identified at 2 years is not preceded by a neonatal brain ultrasound abnormality. © 2009 Sage PublicationsAddress correspondence to: Karl C. K. Kuban, MD, SM Epi, 1 Boston Medical Center Place, Dowling 3 South, Boston, MA 02118; karl.kuban@bmc.org. Reprints: http://www.sagepub.com/journalsReprints.navThe authors have no conflicts of interest to disclose with regard to this article. Cranial ultrasound studies are used both to identify acute cerebral events in newborns and to assist with prognosis of motor and cognitive dysfunctions. For example, white matter damage, most often identified by a cranial ultrasound abnormality, is the single strongest predictor of cerebral palsy. [1][2][3][4][5][6][7][8][9][10][11] One limitation of many previous prognostic studies of neonatal ultrasound lesions is the reliance on a single sonologist to interpret scans. Because of the inherent variability in interpreting cranial sonograms, multiple readers may increase reliability. 12 Another limitation of previous prognostic studies is the lack of replicable operational definitions of cerebral palsy and its types. [1][2][3][4][5][6][7][8][9][10][11][13][14][15][16][17][18][19] In this article, we report how well cranial ultrasound scans obtained in the neonatal intensive care unit predicted cerebral palsy types and severity of motor dysfunction when children were 2 years old, corrected age. Our study of 1053 children born before the 28th postmenstrual week differs from previous studies in several ways. First, the protocol scans of these children were read by at least 2 independent sonologists for congruence about major abnormalities including intraventricular hemorrhage, moderate/severe ventriculomegaly, echogenic lesion, and echolucent lesion. Second, the sonologists' evaluation included specifically information about the location, extent, and laterality of these lesions. Third, the children were given a standardized neurological examination; the standardization of the examination res...

Isolated sulfite oxidase deficiency is a rare but devastating neurologic disease that usually presents in early infancy with seizures and alterations in muscle tone. Only 21 cases have been reported in the literature. We report a case of a newborn infant boy with isolated sulfite oxidase deficiency who presented with generalized seizures on his fourth day of life. Plasma total homocysteine was not detectable. Urinary sulfite, thiosulfate, and S-sulfocysteine levels were elevated. The patient began a low-methionine and low-cysteine diet and was treated with thiamine and dextromethorphan. However, he became increasingly microcephalic and was severely developmentally delayed. Mutation analysis of the sulfite oxidase gene revealed that the patient was homozygous for a novel 4-base pair deletion, and both of his parents were found to be heterozygous carriers of the same deletion. We reviewed the clinical, biochemical, neuroradiologic, and neuropathologic features in all published cases of isolated sulfite oxidase deficiency. Seizures or abnormal movements were prominent features in all cases. Developmental delays were reported in 17 cases. Ectopia lentis was detected in 9 cases. Clinical improvement with dietary therapy was seen in only 2 patients, both of whom presented after the age of 6 months and had relatively mild developmental delays. Plasma or urinary S-sulfocysteine levels were elevated in all cases. Urinary sulfite was detected in all except 1 case. Cerebral atrophy and cystic encephalomalacia were observed with neuroradiologic imaging and were noted in all 3 postmortem reports of isolated sulfite oxidase deficiency. The main alternative in the differential diagnosis of isolated sulfite oxidase deficiency is molybdenum cofactor deficiency.

Since 2012, the United States has experienced a biennial spike in pediatric acute flaccid myelitis (AFM). 1-6 Epidemiologic evidence suggests non-polio enteroviruses (EVs) are a potential etiology, yet EV RNA is rarely detected in cerebrospinal fluid (CSF). 2 We interrogated CSF from children with AFM (n=42) and pediatric other neurologic disease controls (n=58) for intrathecal anti-viral antibodies using a phage display library expressing 481,966 overlapping peptides derived from all known vertebrate and arboviruses (VirScan). We also performed metagenomic next-generation sequencing (mNGS) of AFM CSF RNA (n=20 cases), both unbiased and with targeted enrichment for EVs. Using VirScan, the only viral family significantly enriched by the CSF of AFM cases relative to controls was Picornaviridae, with the most enriched Picornaviridae peptides belonging to the genus Enterovirus (n=29/42 cases versus 4/58 controls). EV VP1 ELISA confirmed this finding (n=22/26 cases versus 7/50 controls). mNGS did not detect additional EV RNA. Despite rare detection of EV RNA, pan-viral serology identified frequently high levels of CSF EV-specific antibodies in AFM compared to controls, providing further evidence for a causal role of non-polio EVs in AFM.