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Biomedical subjects

Meredith R Golomb

Publications and source records attributed to Meredith R Golomb.

At least 19 recordsLinked to original sources

Accuracy and yield of ICD-9 codes for identifying children with ischemic stroke.

The medical records of all children at our hospital with International Classification of Diseases 9th revision (ICD-9) codes 342, 433 to 438, or 767 from May 1999 to May 2004 were reviewed to assess whether they had stroke (any type) or, specifically, arterial ischemic stroke (AIS). Code accuracy ranged from 37 to 88%; each code missed more than half of AIS identified by the combined code search. Studies are needed to determine whether other local and national ICD-9 databases have similar limitations.

Brain Ischemia↗

Cerebral sinovenous thrombosis in the neonate.

BACKGROUND: There are few studies on neonatal cerebral sinovenous thrombosis (SVT). OBJECTIVES: To describe the presentations, treatments, and outcomes of neonatal SVT and to assess infarction as a predictor of outcome. DESIGN: Retrospective chart study. SETTING: A tertiary pediatric hospital in Indianapolis, Ind. Patients Forty-two children with neonatal SVT identified using International Classification of Diseases, Ninth Revision code searches from 1986 through June 2005 and review of neurology clinic records. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Cognitive impairment, motor impairment, and epilepsy at last clinic visit. RESULTS: Gestational or delivery complications or risk factors and comorbid conditions such as dehydration, sepsis, and cardiac defects were common (gestational/delivery factors in 82% [31 of 38 with available maternal data]; comorbid conditions in 62% [26 of the 42]). Twenty-four (57%) presented with seizures. Twenty-five (60%) had infarcts, which were hemorrhagic in 22. Only 27 (64%) of 42 received prothrombotic evaluations; none had persistent deficiencies of protein C, protein S, or antithrombin III. Three (7%) received heparin sodium. All other children received only supportive care. One child died. Outcome data were available for 29 (71%) of the 41 survivors; of these, 23 (79%) had impairment(s). Two were known to be in early intervention, and no further information was available. Of the remaining 27, 16 (59%) had cognitive impairment, 18 (67%) had cerebral palsy, and 11 (41%) had epilepsy. Infarction was associated with the presence of later impairment (P = .03). CONCLUSIONS: The presentation of neonatal SVT is often nonspecific, the diagnosis can be difficult to make, treatment beyond supportive care is rarely used, and outcomes can be severe. Further work is needed to develop standardized guidelines for the evaluation and treatment of neonatal SVT.

Female↗

Family history is a poor screen for prothrombotic genes in children with stroke.

OBJECTIVE: To evaluate family history of early pathological thrombosis as a screen for genetic prothrombotic risk factors in children with stroke. STUDY DESIGN: A 5-year retrospective review of standardized pediatric stroke clinic evaluations of children with arterial ischemic stroke (AIS) or sinovenous thrombosis (SVT). A family history of early pathological thrombosis was defined as stroke, heart attack, or deep venous thrombosis before 50 years of age or multiple miscarriages in the parents or grandparents of the patient. We evaluated the association between family history and the presence of the Factor V Leiden mutation (FVL) and/or Prothrombin G20210A mutation (PTG) in these children. RESULTS: The study included 68 children. Thirteen (19.1%) had a positive family history of early pathological thrombosis, nine (13.2%) were heterozygous for FVL, and one (1.5%) was heterozygous for PTG. Family history was not associated with the presence of FVL (p = .36) or FVL combined with PTG (p = .40). For FVL, family history had a positive predictive value of 23.1% and a negative predictive value of 89.1%. CONCLUSION: A family history of early thrombosis is not associated with the presence of FVL or PTG in children with stroke. We recommend that all children with stroke receive a prothrombotic workup regardless of family history.

Adolescent↗

Outcomes of children with infantile spasms after perinatal stroke.

The object of this study was to describe the outcomes of children with infantile spasms resulting from perinatal stroke. We used International Classification of Diseases, Ninth Revision (ICD-9) searches of billing records to identify 110 children with infantile spasms examined at our hospital from 1998 through 2005. Five of the 99 with symptomatic spasms (5%) had perinatal stroke. An additional five children with spasms caused by perinatal stroke were identified from pediatric stroke clinic records. Seven of the 10 children with spasms due to perinatal stroke presented with stroke as neonates. Three initially appeared healthy but were diagnosed with "presumed perinatal stroke" after radiographic imaging for their spasms evaluation. Median age at last follow-up was 6.3 years: 9 (90%) had epilepsy, 8 (80%) manifested cognitive impairment, and all (100%) had cerebral palsy. The three children who had delayed presentation of "presumed perinatal stroke" had better epilepsy and cognitive outcomes than the seven with neonatal presentation (P = 0.03). Perinatal stroke accounts for 5% of symptomatic spasms and results in high rates of chronic disability similar to those observed with other types of symptomatic spasms. However, a subgroup of children with spasms caused by delayed presentation of "presumed perinatal stroke" appears to have better epilepsy and cognitive outcomes.

Adolescent↗

Chiari in the family: inheritance of the Chiari I malformation.

This report presents three families with Chiari malformation type I that became symptomatic during childhood: a mother and son; a set of monozygotic twins; and two half-siblings and their two maternal cousins. These children presented with various symptoms, including headache, stiff neck, and swallowing difficulty. A review of the relevant literature is presented, with an emphasis on familial examples and proposed inheritance. Less common presentations of Chiari malformation type I are discussed, as well as the possible pathogenesis of Chiari malformation type I and associated syringomyelia.

Adult↗

Perinatal stroke in twins without co-twin demise.

Perinatal stroke in twins without co-twin demise has not been well-described. In this study, the International Classification of Diseases- 9th edition code searches and medical record review were used to identify all children with arterial ischemic stroke examined in a pediatric stroke clinic over a 2-year period. Four of the 35 children (11.4%) with perinatal arterial ischemic stroke were twins; none had co-twin demise. No co-twin had any clinical evidence of perinatal stroke. The most common findings on prothrombotic evaluation were elevated antiphospholipid antibodies (2), elevated lipoprotein a (2), and elevated Factor VIIIc (2). Twin gestation without co-twin demise may be a risk factor for perinatal stroke, and might help explain the higher incidence of cerebral palsy in twins.

Child, Preschool↗

A child with coexistent hemihypotrophy and parapontine epidermoid.

This report describes a 10-year-old female who presented with poor growth and right hemihypotrophy. She had crossed sensory findings on neurologic examination consistent with a lateral medullary syndrome with no discernible cranial nerve findings, ataxia, or vertigo. Magnetic resonance imaging of the brainstem revealed a large right parapontine epidermoid. The possible relationship between the hemihypotrophy and the epidermoid is discussed.

Cerebellar Diseases↗

Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association.

PHACE association is a rare neurocutaneous syndrome that may include posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal defects. The arterial abnormalities may be developmental or acquired and usually involve the cervical and cerebral vasculature. We believe that infants with PHACE association are at increased risk of arterial ischemic stroke and describe 5 infants with facial hemangiomas and structural and acquired arterial anomalies, all of whom suffered an arterial ischemic stroke during infancy.

Central Nervous System Vascular Malformations↗

Perinatal stroke in baby, prothrombotic gene in mom: does this affect maternal health insurance?

BACKGROUND: Maternal prothrombotic disorders may contribute to stroke in the fetus before and during birth. Many of the mothers of children with perinatal stroke have no previous history of pathologic thrombosis. OBJECTIVE: To determine if finding the Factor V Leiden mutation, prothrombin 20210 G-A gene defect, or methylene tetrahydrofolate reductase C677T mutation in an asymptomatic mother of a child with perinatal stroke would affect that mother's ability to obtain health insurance. METHODS: 1) The authors reviewed the literature on genetic prothrombotic risk factors and health insurance. 2) The authors surveyed the 17 largest insurance carriers in Indiana to find if diagnosing genetic prothrombotic risk factors in asymptomatic mothers of children with perinatal stroke would affect the mothers' health insurance status. RESULTS: Three articles on genetic prothrombotic risk factors and insurance were identified. Twelve of 17 insurance companies responded to our survey; three had policies on genetic testing. Most companies refused to provide clear, useful information on their policies regarding these risk factors. CONCLUSIONS: The authors are currently unable to counsel their patients' families on the long-term insurance implications of screening for genetic prothrombotic risk factors. The insurance implications of diagnosing healthy women with genetic prothrombotic risk factors need further study.

Blood Coagulation Disorders↗

A child with Friedreich's ataxia and epilepsy.

Epilepsy in Friedreich's ataxia is rare. We describe a 9-year-old boy with Friedreich's ataxia who had onset of symptoms in the second year of life and developed a generalized epilepsy at age 5 years. On cerebral magnetic resonance imaging, he has a subependymal gray-matter heterotopia. We suggest that his gray-matter heterotopia might be related to his diagnosis of Friedreich's ataxia and that his early onset of symptoms might be related to the length of his guanine-adenine-adenine (GAA) triplet repeat expansion.

Child↗

A 9-year-old boy with a history of large perinatal stroke, infantile spasms, and high academic achievement.

The prognosis for intellectual development in children with symptomatic infantile spasms is usually poor. We report a 9-year-old boy with a history of a large, presumed perinatal, left middle cerebral artery infarct discovered when he developed infantile spasms at 6 months of age. The infantile spasms responded to treatment with adrenocorticotropic hormone. He attained cognitive milestones at normal times, requiring only speech therapy for dysarthric speech. At 9 years of age, he has seizures and a severe right hemiparesis but is an articulate honor roll student in advanced English classes. The development of infantile spasms after large-branch middle cerebral artery stroke does not always predict future mental retardation.

Aptitude↗

A 10-year-old girl with coexistent moyamoya disease and Graves' disease.

There are rare reports of young women with moyamoya disease associated with Graves' disease; we are unaware of any previous reports of this association in prepubescent girls. We report a 10-year-old girl who presented with multiple bilateral strokes. Cerebral angiography demonstrated moderate to severe stenosis of her bilateral distal internal carotid arteries and proximal anterior and middle cerebral arteries, which was greater on the right. Thyroid function tests demonstrated suppressed thyroid-stimulating hormone and elevated thyroid hormone levels. Serum antiphospholipid antibody screen demonstrated mild elevations of antiocardiolipin IgG. Possible mechanisms predisposing individuals to concurrent moyamoya and Graves' disease are discussed.

Child↗

Effect of intracranial bleeds on the health and quality of life of boys with hemophilia.

OBJECTIVES: To compare the health, physical function, and quality of life (QoL) of boys with hemophilia with and without a history of intracranial hemorrhage (ICH). STUDY DESIGN: Of 172 patients with hemophilia A or B, 18 (10%) had at least one episode of ICH. For outcome assessments, 16 of 18 (89%) boys with ICH and 32 controls, matched (1:2) for age and severity of hemophilia, were available. The outcome measures were neurologic function, physical function, and QoL. RESULTS: The median age of the boys at the first ICH was 5.9 months (range, 1 day to 2.7 years). Boys with ICH had a higher incidence of inhibitors and lower mean household income. Neurologic examination was abnormal in seven of 16 (44%) boys with ICH and nine of 32 (28%) controls (P=.3). The mean physical function in boys with ICH was lower (82%+/-25%) compared with controls (93.5%+/-12%, P=.045). The QoL was decreased in boys with ICH compared with controls (6.8+/-3.2 vs 8.5+/-1.4, P=.02), whereas health-related QoL was not significantly different between groups. CONCLUSION: The poorer long-term outcomes of boys with hemophilia appropriately treated for ICH, especially in the domain of QoL, suggest that new strategies to prevent ICH and to manage ICH effectively in this population are needed.

Adolescent↗

Measuring gross motor recovery in young children with early brain injury.

Motor outcome measures may be used in both research and clinical practice. Although many motor outcome measures exist, only a small subset are suitable for use in children, and an even smaller subset is suitable for use in children under the age of 5 years who are undergoing rapid motor development. In this article, the issues involved in choosing an outcome measure are reviewed, and four of the most common gross motor outcomes measures used in young children are discussed.

Brain Diseases↗