ABSTRACT
Neuropathologic examination of two autopsied patients with Jarcho-Levin syndrome showed no pathologic changes in the brain, spinal cord, or nerve roots of one and diastematomyelia of the thoracolumbar spinal cord in the other. The abnormalities of the spinal cord in one of our patients and in another patient described in the literature establish neural defects as a component of the Jarcho-Levin syndrome.
Subject(s)
Neural Tube Defects/complications , Spine/abnormalities , Female , Humans , Infant , Male , Spine/diagnostic imaging , Spine/pathology , Syndrome , Tomography, X-Ray ComputedABSTRACT
Biopsy of the deltoid muscle of a 4-day-old baby boy with congenital hypotonia and weakness showed zebra bodies and other myopathic changes. Our patient and an other patient reported in the literature establish zebra body myopathy as an ultrastructurally distinct benign congenital myopathy.
Subject(s)
Inclusion Bodies/ultrastructure , Muscle Hypotonia/congenital , Neuromuscular Diseases/congenital , Biopsy , Humans , Infant, Newborn , Male , Microscopy, Electron , Muscle Hypotonia/pathology , Muscles/pathology , Neuromuscular Diseases/pathologyABSTRACT
Ocular dipping and deafness as presenting manifestations in a patient with pinealoblastoma are highly unusual. Presence of a discrete lesion allows us to postulate a mechanism to explain ocular dipping in light of the present understanding of vertical eye movement control. A mechanism for deafness, probably a false localizing sign of raised intracranial pressure, is proposed also.
Subject(s)
Brain Neoplasms/complications , Deafness/etiology , Eye Movements , Movement Disorders/etiology , Pineal Gland , Pinealoma/complications , Child , Female , HumansABSTRACT
Fifty-five infants participated in a double-blind study of indomethacin therapy for the closure of patent ductus arteriosus. Seventeen infants died. There was no significant difference in autopsy findings between the groups with respect to pneumonia, disseminated intravascular coagulopathy, necrotizing enterocolitis, sepsis, intraventricular hemorrhage, hydrocephalus, kernicterus, brain softening, and renal damage. For those infants who survived and returned for follow-up at approximately 1 year of age, there was no significant difference between the control (n = 17) and indomethacin (n = 13) groups with respect to physical growth, Bayley scores, respiratory infection, abnormal eye ground, neurological defects, and abnormal EEG. Four in the control group (24%) and three in the indomethacin group (23%) had moderate to severe neurological defects and/or scored less than 80 on the Bayley Mental Development Index or Psychomotor Development Index. It appeared that indomethacin therapy did not have a long-term adverse effect on premature infants.
Subject(s)
Ductus Arteriosus, Patent/drug therapy , Indomethacin/therapeutic use , Infant, Premature, Diseases/drug therapy , Double-Blind Method , Ductus Arteriosus, Patent/complications , Follow-Up Studies , Humans , Indomethacin/administration & dosage , Indomethacin/adverse effects , Infant, Newborn , Infusions, Parenteral , Intelligence Tests , Neurologic ExaminationABSTRACT
We report a 4 1/2-year-old boy who presented with a 4-week history of frontal headaches and fever, and generalized convulsion 5 months previously. Papilledema, an abnormal EEG and a brain scan with a frontal mass and 'doughnut' sign were found. The association of the clinical history with brain scan findings strongly suggested a brain abscess. At surgery the lesion proved to be an encapsulated hematoma; Histological findings suggest underlying microangiomata.
