Papers by Joel Herskowitz
The Journal of the Maine Medical Association
Developmental Medicine & Child Neurology
Pediatric Clinics of North America
Head trauma in childhood may result in brain injury stemming directly from impact as with contusi... more Head trauma in childhood may result in brain injury stemming directly from impact as with contusion, injury derived directly from impact but occurring in delayed fashion as with subdural hemorrhage, or injury occurring as a complication of impact as with bacterial meningitis. History should ascertain relevant particulars in each patient. Examination should focus on pertinent general physical and neurologic signs, with close attention to possible coexisting trauma to the neck, spine, chest, abdomen, and limbs. CT scanning has revolutionized the radiologic assessment of intracranial injury and elucidated greatly the stages of evolution of a variety of post-traumatic intracranial pathologic conditions. Plain radiography continues to be of greater value than CT scanning in detecting and defining abnormalities of the cranium. With rare exceptions, we feel that any child who is referred for CT scan should first have plain radiographs of the skull. In the first few hours to days after inju...
American Journal of Psychiatry
JAMA Neurology
A 2-year-old boy of above-average intelligence experienced seizures, manifested by ticlike turnin... more A 2-year-old boy of above-average intelligence experienced seizures, manifested by ticlike turning movements of the head, which were induced consistently by his own singing--not by listening to or imagining music. His seizures were also induced by his recitation and by his use of silly or witty language such as punning. The neurologic examination showed only a right-sided Babinski's sign. Seizure activity on an EEG was present in both temporocentral regions, especially on the right side, and was correlated with clinical attacks. A computed tomographic scan was normal. Phenobarbital therapy did not reduce seizure frequency.
Pediatric Research, 1978
ABSTRACT Persistent hypermethioninemia unassociated with homocystinuria, cystathioninuria, or liv... more ABSTRACT Persistent hypermethioninemia unassociated with homocystinuria, cystathioninuria, or liver disease has been reported in a clinically normal infant (Science 186:59, 1974). We know of two unreported cases and have recently encountered a fourth case in a 9-month-old infant evaluated for apparent blindness and developmental delay.Pregnancy was complicated in the first trimester by excessive alcohol intake, ten-pound weight loss, and ingestion of diethylpropion HC1 (Tenuate). Birth weight was 2460 gm., small for gestational age of 39 weeks, with APGAR's of 71 and 105 following fetal distress. Family history was not contributory. At nine months the baby was unable to fixate or follow and had roving, nystagmoid eye movements with poor pupillary reactions to light. Optic discs were less than one-half the normal size for age. A 3-4 month lag was seen in motor and language development. EEG showed occipital spike discharges. CT scan demonstrated enlarged occipital horns of the lateral ventricles. Serum methionine value was 164 μmoles/dl (normal 2.7 ± 0.5). All other serum amino acid concentrations were normal. Urine amino acids and organic acids were normal except for elevated methionine. Spinal fluid methionine was 14.5 μmoles/dl (normal 0.26 ± 0.16). The ratio of serum to spinal fluid methionine was 11.3 (normal 9-13).A link between the findings of isolated hypermethioninemia and optic nerve hypoplasia is suggested by the association of hyperornithinemia and gyrate atrophy of the retina as well as homocystinuria and ectopia lentis.
Neurology, 1985
Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are dispropor... more Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. It has been considered to result from localized outpocketing of the ventricular cavity due to failure of thickening of overlying brain. Four new cases are presented here, including a child of near-normal development who appears to be the first reported case of colpocephaly with an associated chromosomal anomaly. Our patients support the view that colpocephaly is a disorder of diverse causation that can arise from a variety of degenerative or encephaloclastic insults to the developing brain.
The Journal of Pediatrics, 1975
The Journal of Pediatrics, Volume 87, Issue 2, Pages 227-230, August 1975, Authors:David W. Teele... more The Journal of Pediatrics, Volume 87, Issue 2, Pages 227-230, August 1975, Authors:David W. Teele, MD; Stephen I. Pelton, MD; Myles JA Grant, MBCh.B.; Joel Herskowitz, MD; Dennis J. Rosen, MD; Carole E. Allen, MD; Robert S. Wimmer, MD; Jerome O. Klein, MD.
The Journal of Pediatrics, 1979
Journal of Child Neurology, 1986
Six children who sustained head trauma of varying degrees experienced self-limited cortical blind... more Six children who sustained head trauma of varying degrees experienced self-limited cortical blindness--complete bilateral visual loss associated with normal pupillary responses to light. In five cases associated with relatively minor head trauma, full visual function returned within 24 hours. In the other case, associated with parietal and occipital contusions, the period of complete blindness was prolonged, lasting 1 week, followed by a striking recovery over an additional week. A bilateral inferior altitudinal visual field deficit has persisted over 6 years, with emergence of a complicated migraine syndrome. Sequential computed tomographic (CT) scans over a 4-year period demonstrate bioccipital and right parietal injury, correlating clinical and anatomic findings. This case is the first description of prolonged transient post-traumatic cortical blindness in a child with CT correlation. It underscores the clinical, radiographic, and pathophysiologic differences between syndromes of brief and prolonged transient post-traumatic cortical blindness in childhood.
Journal of Child Neurology, 2005
Archives of Neurology, 1978
An arachnoid cyst lying anterior to the cervical cord at level C6-7 was found in a 28-year-old wo... more An arachnoid cyst lying anterior to the cervical cord at level C6-7 was found in a 28-year-old woman believed to have syringomyelia. This diagnosis was based both on previous findings at laminectomy and on computerized tomography. The diagnosis of arachnoid cyst was suspected because of clinical features atypical for classical syringomyelia and a history of arachnoid cysts found during childhood. Air myelography demonstrated an extramedullary intradural mass anteriorly that proved to be an arachnoid cyst. Drainage and subtotal resection resulted in marked clinical improvement. This case illustrates the need for reevaluation when a patient with "known" syringomyelia presents an atypical clinical picture. Anterior cervical arachnoid cyst, which may accompany or succeed posterior arachnoid cysts, should be considered.
American Journal of Medical Genetics, 1993
We report the first case of a 46,XYl47,XYY mosaic male with fragile X [Fra(X)] expression in both... more We report the first case of a 46,XYl47,XYY mosaic male with fragile X [Fra(X)] expression in both cell lines. Cytogenetic analysis, DNA linkage analysis, and direct detection of the pre-and full mutation for the affected individual and his at-risk female relatives were performed. Southern analysis of PstI-digested DNA with probe pX6 clearly distinguished the normal genotype, the premutation, and the full mutation in various individuals in the patient's family. F'ra(X) carriers who had normal cytogenetic results were clearly identified by direct mutation analysis. 0 1993 Wiley-Liss, Inc.
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Papers by Joel Herskowitz