Richard W. Leech

Cerebral abnormalities in thanatophoric dysplasia.

Neuropathologic evaluation of two infants with thanatophoric dysplasra displayed typical gross morphologic characteristics and a distinct pattern of brain malformations, including anomalies of the temporal lobe gyri and hippocampus, neuroglial heterotopias, fiber tract hypoplasia, and dysplasia of deep nuclei. Increased numbers of horizontal cells of Cajal-Retzius were striking in frequency and distrbution. The pattern of abnormalities suggests arrest of cerebral cortical ontogeny late in development. As with the mucopolysaccharidoses, a shared common metabolic pathway is a potential mechanism for development of widespread bony and somatic abnormalities and associated central nervous system anomalies.

Massive brain stem necrosis in the human neonate: presentation of three cases with review of the literature.

In neonates suffering hypotensive or asphyxial episodes, the brain stem is particularly vulnerable to selective neuronal necrosis. Typically, the pattern is one of generalized neuronal necrosis within well-defined brain stem cranial nerve nuclei, or random neuronal degeneration within the reticular formation. More recently, isolated cases of severe partial or total cystic necrosis of the brain stem reticular formation have been recorded. The pathogenesis is poorly understood at this time, but may be similar to the less severe (but more often recognized) nuclear or focal neuronal loss. Three infants are presented in which severe necrosis of the brain stem occurred. In each, the clinical setting was one of sudden and abrupt worsening of the patients cardiovascular status. (J Child Neurol 1988;3:258-262).

Midline Telencephalic Dysgenesis: Report of Three Cases:

A series of three complex cerebral malformations is presented. The series was characterized by incomplete development of the commissural and chiasmatic plate of the developing forebrain. Associated anomalies included hypoplasia of the hippocampus, heterotopias, and nonfusion of the cerebellum. Mild facial anomalies were present, as were somatic anomalies of the heart and kidneys. Emphasis is placed on the order and classification of similar cerebral anomalies. (J Child Neurol 1986;1:224-232)

Primary primitive neuroectodermal tumor of the leptomeninges.

Case Report A previously healthy 19-month-old male infant, who had been the product of an uncomplicated delivery with subsequent normal development, had an upper respiratory tract infection (punctuated by 1 day of fever) that resolved over a 10-day period approximately 1 week before hospitalization. Several days after resolution of the symptoms of the upper respiratory tract infection, he began to have episodes of emesis after feeding and was more irritable than usual. The evening before admission, the child had an episode of rapid, shallow breathing for 1 or 2 minutes before falling asleep. The next morning he awoke with a left gaze preference and decreased left-sided movement. The parents brought the child to the local clinic, where he had a generalized tonic-clonic seizure, which was stopped after 30 minutes by lorazepam injection. Subsequently, he was transported

Neural Tube Defects: Epidemiology

occurred on a year-to-year basis. Neural tube defects occur in one to two of every 1000 births in the United States, and of the approximately 6000 affected infants born each year, the majority are evenly divided between anencephaly and spina bifida.13,14 Despite the magnitude of this problem, in 1985 Lorber and Ward thought the virtual elimination of neural tube defects possible if current screening and diagnostic methodologies were used to the fullest.l5

Absence of β-Amyloid Immunoreactivity in Mesial Temporal Lobe in Cockayne's Syndrome

Cockaynes syndrome is associated with dementia and other physical signs of premature senescence. Death usually occurs in the first or second decade of life. Because previous neuropathologic descriptions have included neurofibrillary tangles and calcific and dystrophic cerebrovascular changes, we examined the mesial temporal lobes of three children with Cockaynes syndrome (confirmed by 254-nm ultraviolet light studies). Immunohistochemistry was used to determine if β-amyloid immunoreactivity was present in the parenchyma or cerebral blood vessels. Tissues from the mesial temporal lobe of patients with Alzheimers disease and Down syndrome were used as controls. None of the three temporal lobes from patients with Cockaynes syndrome contained β-amyloid immunoreactive material in either the parenchyma or vessels; all of the Alzheimers disease and Down syndrome controls had β-amyloid immunoreactivity. (J Child Neurol 1991;6:32-34).

Memories of a Sea Horse

Received March 28, 1996. Accepted for publication April 2, 1996. From the Departments of Pathology (Drs Brumback and Leech), Neurology (Dr Brumback), and Pediatrics (Dr Brumback), University of Oklahoma College of Medicine, and Pathology and Laboratory Medicine Service (Dr Brumback), Veterans Affairs Medical Center, Oklahoma City, OK. Address correspondence to Dr Roger A. Brumback, Department of Pathology, University of Oklahoma Health Sciences Center, BMSB Room 451, 940 Stanton L. Young Blvd., Oklahoma City, OK 73104. In the late 1500s, the anatomist Arantius sliced through the temporal lobe to expose a convoluted structure lying on the floor of the inferior horn of the lateral ventricle. This he called

An adult-onset myopathy characterized by a double ring appearance of muscle fibers

We report a 33-yr-old man with an unusual neuromuscular disorder characterized by progressive generalized weakness of 3 yr duration whose muscle biopsy showed a double ring appearance in most muscle fibers. This double ring appearance was due to a peripheral outer sarcoplasmic mass and an inner ring of annular myofibrils surrounding a core of normal longitudinally oriented myofibrils. Nerve conduction studies were normal. Electromyography showed fibrillations, positive waves, and increased brief duration, low amplitude, polyphasic potentials.