An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications.

OBJECTIVE AND IMPORTANCE: We present and illustrate an unusual case of the complete familial Currarino triad (an association between a bony sacral defect, a presacral mass, and an anorectal malformation) in which the teratoma arose from the conus medullaris and contained mature neurons, glia, and branching ependymal canals that were in communication with a terminal syrinx. The embryogenic implications are discussed. CLINICAL PRESENTATION: The patient was a term neonate when discovered to have imperforate anus. Further workup revealed lumbosacral dysraphism with a presacral mass, a rectovaginal fistula, and a single pelvic kidney. The family pedigree revealed a familial transmission pattern; the patient had a second cousin with anal atresia and a first cousin with similar sacral anomalies. The motor level was L4 with trace L5, and there was absent sensation in the sacral dermatomes. INTERVENTION: A diverting colostomy was performed on Day 14, and the infant returned at 3 months of age to undergo near-total resection through the previous abdominal approach. Only a subtotal resection was possible because the mass arose from the low-lying conus and was firmly adherent to the sacral nerve roots and iliac vessel. Follow-up magnetic resonance imaging performed 18 months after surgery revealed that the residual tumor had not progressed. CONCLUSION: Complete Currarino triad is rare and is familial in half of the cases. The special features of the tumor in our case were the presence of mature neurons with ependymal canals and its origin from the conus. The possible embryogenesis may provide evidence that the caudal notochord is important for organized secondary neurulation.

Effect of hyperbaric oxygenation on peripheral nerve regeneration in adult male rabbits.

Oxygen environments were used to study the regenerative effects of hyperbaric oxygen on crushed sciatic nerves in 30 adult male rabbits. Six different oxygen environments were used, and treatments were initiated 4 days post injury. Transmission electron microscopy and light microscopy were used to evaluate the regenerative morphology of crushed nerves. The morphology of crushed nerves after 7 wk of treatment with compressed oxygen at 202, 242, and 303 kPa resembled normal uncrushed nerves, with nerve fibers uniformly distributed throughout the section. The treatment groups receiving 202 kPa compressed air, 100% normobaric oxygen, or ambient air did not display morphologies similar to normal uncrushed nerve. The nerves in these animals were edematous and contained disarrayed nerve fibers. Myelination in the animals receiving 100% O2 at high pressures resembled undamaged nerves. Collagen and blood vessels were more evident in the lower pressure/oxygen tension treatments than in the animals receiving 100% O2 at higher pressures. The neurofilamentous material inside the crushed control axons was dense, whereas in the axons of animals treated with compressed O2 it was loosely packed. These differences in morphology suggest that treatments consisting of 100% O2 under pressure can accelerate a peripheral nerve's recovery from a crush injury.

Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2.

Tomaculous neuropathy is the descriptive term for the "sausagelike" swellings of myelin characteristic of hereditary neuropathy with liability to pressure palsies (HNPP). A 1.5-Mb deletion in chromosome 17p11.2 is present in the majority but not all cases of HNPP. We reviewed the clinical and electrophysiological features of 18 patients with tomaculous neuropathy and compared these features between patients with and without the typical large deletion. Patients presented with a variety of pressure-induced nerve palsies and brachial plexopathies. Two patients presented with generalized symmetric sensorimotor polyneuropathies. Four patients were older than their respective probands but were as yet asymptomatic. Nerve conduction studies demonstrated prolonged distal latencies out of proportion to slowing of conduction velocities, suggesting a distally accentuated myelinopathy. DNA analysis revealed the 1.5-Mb deletion in all the familial cases and in 3 of the sporadic patients. The clinical and electrophysiological features were similar between patients with and without the 1.5-Mb deletion in chromosome 17p11.2.

Evaluation of histopathologic changes in an animal model of mechanical corpus callosum impingement as seen in hydrocephalus.

RATIONALE AND OBJECTIVES: We evaluated histologic changes associated with chronic impingement of the corpus callosum. Similar callosal impingement has been postulated to be responsible for some of the symptoms in people who have hydrocephalus. METHODS: Eight rats with callosal impingement produced by surgical implantation of a blunt blade in the interhemispheric fissure and four control animals with no callosal impingement were evaluated by magnetic resonance (MR) imaging and by direct histologic evaluation after autopsy. The histologic evaluations occurred 1 month after surgery in half the animals and 6 months after surgery in the other half. RESULTS: MR imaging results showed that the implanted blade was in a good position in all animals. Histologically, the corpus callosum appeared normal 1 month after implantation of the impingement blade. Six months after surgery, the experimental group demonstrated decreased callosal thickness and a loss of axonal fibers in the corpus callosum both near and remote to the blade. CONCLUSION: Chronic impingement of the corpus callosum was associated with callosal thinning and by loss of callosal axons. Further research will be required to investigate the possible relation of these histologic findings to the clinical findings in normal-pressure hydrocephalus.

Neonatal nemaline myopathy with abundant intranuclear rods.

A term hypotonic female infant was born to a primigravida mother. The infant required mechanical ventilation from birth until death at 5 weeks of age. An elevated serum creatine kinase of 1300 IU l-1 lead to a quadriceps muscle biopsy at 3 days of age. The biopsy showed numerous intranuclear inclusions on light microscopy. Electron microscopy revealed the inclusions to be rod (nemaline) bodies and were located in 80% of the muscle nuclei. Cytoplasmic rod bodies were also present in 50% of the muscle fibers, often arising from Z discs. The intranuclear rods were more than ten times larger than the cytoplasmic rods. There have been eight reported cases of abundant intranuclear rods in nemaline myopathy: three adult onset; one childhood onset; and four neonatal (including this case). Six of the cases (all of the neonatal and two adult onset) died due to respiratory failure and pneumonia. While intranuclear rods are unusual in nemaline myopathy, they occur in both adult and neonatal cases, and their presence is often associated with a fatal outcome.

Rostral transfontanel herniation.

Upward transtentorial herniation as a result of mass effect in the posterior fossa has been described in adults by several authors. We report the case of a premature infant, small for gestational age, who experienced rostral herniation of a portion of frontal lobe through the anterior fontanel as the result of a hemorrhagic cerebellar infarction followed by a large parieto-occipital intracerebral hemorrhage.

Congenital ceroid-lipofuscinosis.

A term infant, observed at birth to be microcephalic, developed status epilepticus and died 36 hours later. At autopsy a markedly atrophic brain was found which, by microscopic examination, demonstrated changes consistent with neuronal ceroid-lipofuscinosis. Cerebral lipidosis with microcephaly presenting at birth is extremely rare. Congenital neuronal ceroid-lipofuscinosis is an atypical form of ceroid-lipofuscinosis and should be considered in the differential diagnosis of the microcephalic neonate with seizures.

MRI of radiation induced spinal cord glioma.

Radiation induced neoplasms of the spinal cord are rare lesions. This report details the MR evaluation of a patient with radiation induced astrocytoma of the cervical cord. The diagnosis of second primary neoplasm should be considered in patients with prior radiation therapy when MRI demonstrates an intramedullary lesion.

Loss of heterozygosity on chromosome 10 in human glioblastoma multiforme.

Recessive mutations, revealed by loss of the wild-type allele, have been associated with the development of a variety of cancers in children and adults. Polymorphic chromosome 10 markers were used to screen paired tumor and lymphocyte DNA samples in 13 patients with glioblastoma multiforme. Ten patients showed loss of constitutional heterozygosity in the tumor samples. This finding suggests that a recessive gene involved in the development of glioblastoma multiforme is present on chromosome 10.

A microbiologic and clinical study of placental inflammation at term.

This study describes the relationships between histologically evident inflammation of the placenta, membranes, and umbilical cords, and correlates these lesions with clinical outcome and with amniotic fluid and amniotic membrane cultures in pregnancies at risk for clinical infection. The overall frequency of inflammation in 123 placentas was 85.45%. There were good interrelationships between inflammatory lesions at various sites. Membrane infiltrates of 3+ were seen in 90.9% of intra-amniotic infection cases, but in only 18.4% of asymptomatic patients (P less than .001). Conversely, 76.9% of patients with 3+ inflammation had intra-amniotic infection, whereas only 7% with lesser degrees of inflammation had intra-amniotic infection. Inflammation of any degree (1-3+) had a low specificity (28%) for febrile maternal outcome. Bacteria were recovered in 117 (95.1%) of the amniotic fluids. The grade of histologic lesions was associated with total colony count of bacteria in amniotic fluid (P less than .05) and with high-virulence bacteria in amniotic fluid (P less than .05), and Mycoplasma hominis in amniotic fluid (P less than .05). Bacteria were found in 67.6% and mycoplasmas in 18.6% of amniotic membrane cultures. Chlamydia trachomatis was not recovered in any of 35 amniotic membrane cultures. No significant correlation was seen between organisms in the amniotic membrane and histologic inflammation. Thus, positive amniotic fluid culture results are associated with histologic inflammation, and may cause the inflammatory response. A logistic regression model revealed that predictors of histologic inflammation include maternal diagnosis, amniotic fluid colony count, and M hominis in amniotic fluid.

Mitochondrial myopathy presenting as temporomandibular dysfunction.

Three patients, all of whom presented with orofacial pain, were initially diagnosed as having temporomandibular dysfunction. Subsequent muscle biopsies proved they had an underlying pathologic abnormality. It is not inconceivable that a number of patients who present with facial pain, whether or not they respond to traditional therapeutic modalities, have an underlying systemic myopathy. The myopathy may be hereditary and the mode of inheritance may be unusual. Practitioners who treat patients with facial pain are cautioned to be aware of this possibility. Mitochondrial myopathy is probably one of a series of pathologic abnormalities that may be present.

Brainstem subarachnoid respiratory epithelial cysts: report of two cases and review of the literature.

Two cystic lesions that were lined by pseudostratified ciliated columnar epithelium containing goblet cells are described. Both lesions were found in the subarachnoid space between the vertebrobasilar arterial system and the brainstem. One cyst was an incidental finding in a patient who died of orbital phycomycosis. The cyst was filled with clear mucinous material. The second cyst presented as a mass adjacent to the brainstem in a woman who had progressive brainstem dysfunction. This lesion showed transition from pseudostratified ciliated columnar epithelium with goblet cells to papillary stratified squamous epithelium, histologic features essentially identical to those of squamous papillomas of the nasal cavity. This lesion was filled with squamous debris. The proposed origin of these lesions is discussed.

Cerebral computed tomography in drowning victims.

Computed tomography in two patients who had drowned revealed bilateral basal ganglia and medial temporal lobe low densities. Postmortem examination in one case showed these areas to be necrotic, probably secondary to the hypoxia and hypotension associated with drowning.

Perinatal mortality in a large perinatal center: five-year review of 31,000 births.

The perinatal mortality rate for 30,928 babies born at Medical Center Hospital, San Antonio, Texas, between 1978 and 1982, was 20.3/1,000 births. Neonatal and fetal mortality rates were, respectively, 10.1/1,000 live births and 10.4/1,000 births. Exclusion of babies who weighed less than 500 gm yielded adjusted fetal, neonatal, and perinatal mortality rates of, respectively, 9.2, 9.8, and 17.9. Birth weight-specific mortality rates were calculated by groups of 250 gm birth weight for all neonates and by increments of 100 gm for babies who weighed 500 to 1,499 gm. Male infants, intrauterine growth-retarded babies, and babies whose mothers were less than 15 years old contributed more deaths than would be expected from the characteristics of the obstetric population. Presumptive cause of fetal death was unknown in 32%, fetal anoxia in 21%, maternal pathologic conditions in 20%, inappropriate fetal growth in 13%, congenital malformations in 8%, and systemic fetal infections in 6%. Leading presumptive causes of neonatal death were immaturity (29%), congenital malformations (18%), hemorrhages (16%), and systemic infections (10%). Hyaline membrane disease and necrotizing enterocolitis contributed, respectively, 7% and 6% of deaths. Past and future trends of perinatal mortality are discussed.

Duplication (5p13 leads to pter): prenatal diagnosis and review of the literature.

We describe a patient with a reciprocal translocation t(5,13) and her three offspring. The chromosome anomaly was ascertained after the birth of her first child, who had the cri-du-chat syndrome. Amniocentesis demonstrated the presence of a dup(5p). The anomalies affecting that fetus are described and compared with the reported phenotypes of dup(5p). The extent of clinical findings in the reported cases depends on the length of the duplicated portion. The larger the duplication (p11 leads to pter), the more pronounced are the clinical signs. Physical signs are nearly absent when 5p14 leads to ter is involved. Also, translocations affecting chromosome 5 have an increased abnormal outcome when compared to D/D Robertsonian translocations. This is the first instance of antenatal diagnosis of trisomy 5p.