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Biomedical subjects

M I Shevell

Publications and source records attributed to M I Shevell.

62 records · Page 4Linked to original sources
PubMed1992

The neurology of cobalamin.

The following review indicates that the impact of cobalamin on neurologic disease extends far beyond the traditional myelopathy of classical pernicious anemia. The delineation of a broad spectrum of inherited disorders of cobalamin processing has served to illustrate and precisely define each step in the normal absorption, transport and intracellular metabolism of this essential vitamin. Recent clinical work has extended the boundaries of acquired cobalamin deficiency to encompass a variety of neuropsychiatric disturbances without identifiable concomitant hematologic derangements and emphasized the utility and sensitivity of new laboratory tests. These findings will demand increased vigilance from clinicians so that atypical and subtle cobalamin deficiency states will be readily diagnosed. The wide range of neurologic dysfunction observed in both inherited and acquired disorders of cobalamin metabolism challenges basic scientists to delineate cobalamin's presumed important role in the normal development and homeostasis of the nervous system.

Anemia, Pernicious↗
PubMedDate not supplied

Benign familial neonatal seizures: clinical and electroencephalographic characteristics.

Two families with benign familial neonatal seizures evident over three generations are presented with emphasis on clinical and electroencephalographic features. Benign familial neonatal seizures represent a disorder with the onset of frequent generalized seizures during the first weeks of life. Family history reveals autosomal dominant inheritance of this disorder. The neonates are neurologically normal and outcomes are usually benign. In our families, none of the patients had seizures after the first ten months of life, with long-term follow-up ranging from 10 months to 56 years. The use of antiepileptic medication seems to have little effect on course or eventual outcome. The electroencephalograms, both initially and subsequently, ranged from normal to epileptiform and did not correlate with risk for further seizures in infancy or subsequent epilepsy. Benign familial neonatal seizures are a distinct clinical entity whose key features and favorable prognosis should be appreciated by all those caring for sick neonates. This recognition would result in an early diagnosis and conservative treatment.

Electroencephalography↗
PubMedDate not supplied

Neonatal dural sinus thrombosis.

Dural sinus thrombosis in the newborn period has been infrequently documented and its clinical presentation remains obscure. Seventeen patients, all of whom were born at term with dural sinus thrombosis diagnosed in the neonatal period, were retrospectively identified and reviewed. Diagnosis was determined by unenhanced computed tomography which demonstrated a dense sagittal sinus with concomitant small ventricles. Two patients had ancillary studies (i.e., cerebral angiography and nuclear flow scan) which confirmed the diagnosis. Only 4 patients had evidence of perinatal asphyxia. Three patients were identified as having associated conditions known to predispose them to dural sinus thrombosis. None of the patients tested had an identifiable hypercoagulable state. Neonatal seizures were the initial presentation in 15 patients. Seizure onset predominantly occurred during the first week of life. Subsequent examinations were available in all 17 patients and ranged up to 6 years. Only 3 patients had seizures beyond the neonatal period. In 11 of 12 infants with no history of perinatal asphyxia, neurodevelopmental outcomes were normal. Two of 4 infants with perinatal asphyxia had neurologic sequelae. Dural sinus thrombosis represents an important and under-recognized cause of neonatal seizures in term infants. In the absence of perinatal asphyxia, normal neuro-developmental outcome is likely and the risk of seizure recurrence is low.

Cerebral Veins↗
PubMedDate not supplied

Developmental bilateral perisylvian dysplasia.

Acquired bilateral anterior opercular lesions result in the characteristic Foix-Chavany-Marie syndrome that features expressive dysphasia and pseudobulbar palsy. A developmental congenital variant that represents a restricted disorder of neuronal migration was recently reported. We report a newborn with autopsy-confirmed developmental bilateral perisylvian dysplasia. Polymicrogyria was found on detailed histologic study confirming the only prior pathologic study of this syndrome. The clinical heterogeneity of this disorder with neonatal and childhood modes of presentation is reviewed. Speculation regarding pathogenesis focuses on either a genetically determined selective aberration of neuronal migration or an in utero postmigration vascular accident.

Abnormalities, Multiple↗
PubMedDate not supplied

Transient oculosympathetic paresis (group II Raeder paratrigeminal neuralgia) of childhood: migraine variant.

Although a recognized migrainous phenomenon in adults, transient oculosympathetic paresis in childhood has been rarely observed. Six pediatric patients are reported with transient oculosympathetic paresis occurring within the context of characteristic vascular headaches. The clinical profiles of the patients suggest transient dysfunction of third-order ocular sympathetic pathways and represent most likely a benign, self-limited variant of pediatric migrainous neuralgia.

Adolescent↗
PubMedDate not supplied

Agreement between the neonatal neurological examination and a standardized assessment of neurobehavioural performance in a group of high-risk newborns.

The degree of agreement between the neonatal neurological examination and a standardized neurobehavioural assessment was investigated in a group of 32 newborns with congenital heart defects. A paediatric neurologist performed a neurological examination, and an occupational therapist administered the Einstein Neonatal Neurobehavioural Assessment Scale on all subjects. Both examiners independently evaluated each subject, and were blinded to the diagnosis, to perinatal status and to each other's clinical findings. Statistical analysis demonstrated a significant association between the overall impression between both examiners (p < .0001), with a crude agreement of 96.9%. Sixteen neonates were determined to be normal and 15 abnormal by both examiners, with disagreement in only one subject. Although two distinct approaches were employed in the neurological assessment of high-risk newborns, both assessments evaluate the maturity and integrity of the immature central nervous system. The results demonstrate a strong agreement between these two approaches, suggesting that the neonatal neurological examination is consistent and valid.

Acoustic Stimulation↗