The role of revascularization in celiac occlusion and pancreatoduodenectomy

Septo-optic dysplasia (or de Morsier syndrome) is a congenital disorder characterised by anomalies in cerebral midline structures, optic nerve hypoplasia, and hormonal deficiencies. Diagnosis should be made early, due to the possibility of treating the hormonal disturbances. We describe here a case with decreased visual acuity, one-sided hemianopia, nystagmus und agenesis of the septum pellucidum and discuss the heterogeneous appearance of this syndrome. There are two theories regarding its pathogenesis. The first postulates simultaneous damage to both cerebral structures and optic nerve development around the 6th week of gestation, while the other favours secondary degeneration of optic nerve fibres due to a cerebral lesion.     

Oculocerebral dysgenesis in the linear nevus sebaceous syndrome

PURPOSE: The authors document the association of peripapillary staphyloma and an atypical variant of hemimegalencephaly with the linear nevus sebaceous syndrome. BACKGROUND: Linear nevus sebaceous syndrome is an uncommon neurocutaneous disorder that has a propensity to involve the eyes. METHODS: Clinical, histopathologic, and neuroimaging findings are examined in a child with linear nevus sebaceous syndrome. RESULTS: In addition to bilateral peripapillary staphylomas, ophthalmologic abnormalities included a corneal dermoid, a complex conjunctival choristoma, macular hypoplasia, and optic nerve hypoplasia with contralateral optic atrophy. Magnetic resonance imaging disclosed a rare form of hemimegalencephaly characterized by hypoplasia of an optic radiation within the enlarged, dysgenetic cerebral hemisphere. CONCLUSION: The spectrum of oculocerebral dysgenesis in the linear nevus sebaceous syndrome can be expanded to include peripapillary staphyloma and atypical hemimegalencephaly with hypoplasia of an optic radiation.     

MR of the normal neonatal brain: assessment of deep structures

BACKGROUND AND PURPOSE: Recent work has shown that up to 50% of patients with congenital muscular dystrophies (CMDs) have abnormalities of the brain that can be detected by brain MR imaging. We attempted to determine whether brain MR imaging is useful for the diagnosis and classification of patients with CMDs. METHODS: The brain MR studies of 12 patients with biopsy-proved CMDs were reviewed retrospectively. Using information available in the literature regarding associated brain anomalies as a guide, an attempt was made to classify the patients in terms of "pure" CMD, CMD with occipital agyria, Fukuyama CMD, muscle-eye-brain disease, or Walker-Warburg syndrome. RESULTS: All the patients were easily classified into one of four groups: pure CMD (four patients), Fukuyama CMD (four patients), muscle-eye-brain disease (two patients), or Walker-Warburg syndrome (two patients). Patients with pure CMD had diffuse central cerebral hypomyelination with mild pontine and cerebellar hypoplasia. Patients with Fukuyama CMD had diffuse central cerebral hypomyelination, cerebellar polymicrogyria (with or without cysts), frontal polymicrogyria, a variable degree of hypoplasia of the pons and cerebellar vermis, and a variable occipital cobblestone cortex. Patients with muscle-eye-brain disease had cerebellar polymicrogyria (with or without cysts), absence of the septum pellucidum, diffuse cerebral cortical dysplasia, pontine and cerebellar vermian hypoplasia, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus. Patients with Walker-Warburg syndrome had diffuse cerebral cobblestone cortex, absence of cerebral and cerebellar myelin, cerebellar polymicrogyria (with or without cysts), pontine and cerebellar vermal hypoplasia, hydrocephalus, and variable callosal hypogenesis. CONCLUSION: MR imaging shows distinctive brain anomalies that allows patients with CMD to be classified into four distinct groups that are consistent with known disorders.     

Septo-optic dysplasia: report of 6 patients studied with MR and discussion on its pathogenesis

OBJECTIVE: Septo-optic dysplasia, which consists of the association of the hypoplasia of the optic nerves and the agenesis of the septum pellucidum, is frequently associated with deficiency of hypothalamic releasing factors. In Magnetic Resonance (MR) of these patients, anomalies in the form and size of the pituitary stalk, adenohypophysis and neurohypophysis are found. Some cases show schizencephaly and it has been proposed as an added component of the syndrome by some authors. This fact has been refuted by others. PATIENTS AND METHODS: We present the clinical and neuroanatomic revision of six children with septo-optic dysplasia studied by MR imaging over the last five years in our Department of Neuropediatrics. The aim was, that through the neuroembryological discussion of the morphopathological aspects of the patients, to determine the malformation and the time in which the injury, which was the underlying cause, occurred. RESULTS: From the six cases, in two only disruptive signs were evident with the optic nerves being affected asymmetrically, disruption of the corpus callosum, falx cerebri indemnity and effects in the cortex conformation. This was opposed to the dysgenic features in the other four cases which had no disruptive features. CONCLUSIONS: Our findings suggest that this entity could be the result of at least two different pathogenic processes, that is, a minor form of holoprosencephaly (dysgenesis) or a disruption which, therefore, occurs later in gestation.     

Multiple pituitary hormone deficiencies in a patient with spinocerebellar ataxia: magnetic resonance imaging and hormonal studies

Degenerative spinocerebellar ataxia has a rare association with hypogonadotropic hypogonadism. In this report we present the results of the detailed endocrine evaluation and magnetic resonance imaging in one such patient. A 20-year-old male with progressive cerebellar ataxia, hypogonadism, and short stature was investigated. Basal testing revealed hypogonadotropic hypogonadism (LH < 5 mU/L, FSH < 5 mU/L, testosterone 2.5 nM/L). There was no rise in LH after stimulation with LHRH, peak LH level being < 5 mU/L. Insulin hypoglycemia testing was consistent with GH deficiency, with peak GH being 3.2 mU/L. On TRH stimulation, there was no significant rise in prolactin, though the TSH response was normal. Magnetic resonance imaging revealed cerebellar atrophy. The anterior pituitary was atrophic, with a height of 1.4 mm. The posterior pituitary and the pituitary stalk were normal in size and position. This patient with degenerative spinocerebellar ataxia had multiple pituitary hormone deficiencies. The results of our endocrine evaluation and MR imaging lead us to believe that these deficits may result from a lesion at the level of the pituitary gland.     

Juvenile pilocytic astrocytoma masquerading as amblyopia

PURPOSE: A healthy 13-year-old girl, previously diagnosed with amblyopia in her right eye, was seen in consultation after her vision continued to decrease. METHODS: A complete ophthalmologic examination including visual field testing and optic nerve photography was performed in the neuro-ophthalmologic clinic. Magnetic resonance imaging study was also obtained. RESULTS: Visual sensory deficits and pale optic nerves were noted on clinical examination. Visual field testing showed a chiasmatic junctional defect. Magnetic resonance imaging verified a large chiasmatic mass, histologically proven to be a juvenile pilocytic astrocytoma. CONCLUSION: Early recognition of signs and symptoms of chiasmatic lesions is essential for preventing visual loss.     

Application of genetic markers to the identification of recrudescent Plasmodium falciparum infections on the northwestern border of Thailand

PATIENTS AND METHODS: The role of cerebral magnetic resonance imaging (MRI) in the diagnosis of growth hormone (GH) deficiency in children has been studied in 100 children. The diagnosis of GH deficiency was assessed at a mean age of 6.7 +/- 4.1 years: morphological abnormalities of the hypothalamic-pituitary (HP) region have been studied in three different groups: in the first group (70 cases), the neurohypophysis was present and normally located; in the second group (ten cases) it was missing; in the third group (20 cases) the neurohypophysis was ectopic (truncated stalk syndrome with ectopic neurohypophysis, small antehypophysis, thin or non-visualized stalk). RESULTS: In the majority of cases, children presenting with only one morphological abnormality of the HP region (ectopic neurohypophysis or small antehypophysis or non-visualized or thin stalk) had an isolated GH deficiency. When multiple morphological abnormalities were present, anterior pituitary deficiency was multiple in more than half the cases. Cerebral midline anomalies (above all Chiari I malformation and basipharyngeal canal) had been observed in 20% of the children presenting with GH deficiency. In the majority of cases (95%), these anomalies were associated with one or more abnormalities of the HP region. A familial case is reported: morphological anomalies of the HP region were different for both siblings. Genetic factors are evoked. CONCLUSION: The severity of the hormone deficiency is correlated to the ectopic location of the neurohypophysis, the thin appearance or non visibility of the pituitary stalk and the associated midline anomalies.     

Nystagmus in periventricular leucomalacia

BACKGROUND/AIMS: Periventricular leucomalacia (PVL) is a lesion in the immature brain involving the optic radiation. Children with PVL have visual problems including crowding, visual field defects, strabismus, and visual perceptual/cognitive deficits, together with nystagmus. They often have optic nerve hypoplasia seen either as small discs or as large cupping of normal sized optic discs. This study aimed to perform eye movement recordings in a group of children with PVL in order to characterise and classify the nystagmus. METHODS: 19 children with PVL on cerebral imaging underwent eye movement recordings with the Ober-2 infrared reflection technique. RESULTS: 16 of the 19 subjects had horizontal nystagmus. CONCLUSION: The present study shows that nystagmus is commonly seen in children with PVL.     

Inhibition of bFGF activity by complement C1s: covalent binding of C1s with bFGF

Several recent studies have reported an association between midline cerebral malformations (e.g., corpus callosum, cavum septum pellucidum) and schizophrenia. The authors investigated whether absence of the adhesio interthalamica (AI), a midline structure that develops in concert with prominent features of the ventricular system soon after the bridge from the late embryonic stages to early fetal life, might constitute a marker of early developmental neuropathologic changes in schizophrenia. Eighty-two patients (54 men, 28 women) with a diagnosis of first-episode schizophrenia (FES) were recruited from consecutive admissions to a psychiatric inpatient service. Fifty-two healthy control subjects (30 men, 22 women) were recruited and matched to the patient sample on distributions of sex and age. Magnetic resonance imaging studies were performed, and the presence versus absence of the AI was determined for each subject. The length and volume of the third ventricle were measured for each subject. The AI was found to be absent more often among patients with FES compared with control subjects, and patients without an observable AI also had larger third-ventricle volumes. These differences in presence or absence of the AI observed in vivo (but not in a comparable postmortem sample of histologically fixed and prepared brain slices), which are likely related to third-ventricle enlargement, may represent yet another early developmental marker of cerebral malformation among patients with FES.     

Diagnosis of cerebral venous thrombosis with routine magnetic resonance: an update

Magnetic resonance imaging and angiography is the technique of choice in the diagnosis and follow-up of cerebral venous thrombosis: Thrombosis appears as an absence of flow void on spin echo images and lack of signal in angiographic techniques. The thrombus signal intensity is different on T1 and T2 spin echo weighted images and evolves according to hemoglobin degradation. Recognition of pitfalls and artefacts related to the different magnetic resonance imaging techniques employed is essential to interpret dural venous sinus thrombosis. In this paper the imaging of 27 patients with cerebral venous thromboses is reviewed. We describe the type of signal abnormalities, the different types of clot- and flow-related artefacts, and the indirect signs of cerebral venous thrombosis.     

Isolated partial growth hormone deficient short stature with syringomyelia not associated with birth injury

A 59-year-old female with 20-year history of slowly progressing muscle atrophy and sensory disturbance of upper extremities showed short stature, scoliosis, hunger type of sensory dissociation of the upper extremities and pyramidal tract sign of the lower extremities. Magnetic resonance imaging (MRI) clarified hypoplasia of the anterior pituitary lobe, Arnold-Chiari malformation and cervical syringomyelia. Insulin and arginine stimulating tests revealed partial type of isolated growth hormone (GH) deficiency but GH gene analysis detected no defects of GH genes. It was considered to be a rare case of non-hereditary hypopituitarism with Chiari malformation and syringomyelia not associated with perinatal injury, namely a midline anomaly syndrome.     

Magnetic resonance imaging of the musculoskeletal system. Part 4. The knee

Since its introduction to musculoskeletal imaging in the early 1980s, magnetic resonance imaging has proven to be an excellent technique for evaluating patients with knee problems. Studies have shown it to be accurate in the identification of abnormalities of the menisci, ligaments, patellofemoral joints, and other soft tissue and osseous structures in the knee. The main advantages of magnetic resonance imaging are its noninvasive nature and its high accuracy and negative predictive value in evaluating the menisci and anterior cruciate ligament. Magnetic resonance imaging has been shown to be useful in the detection and diagnosis of various traumatic and nontraumatic knee abnormalities. It has also proved useful in the diagnosis of occult or unsuspected bone lesions. Magnetic resonance imaging can therefore help in the selection of those patients who need therapeutic arthroscopy. There is evidence that magnetic resonance imaging of the knee is a cost effective screening technique when used in conjunction with the clinical findings in patients who are candidates for arthroscopy. Magnetic resonance imaging of the knee is still a relatively expensive modality.     

Maleylated-BSA induces hydrolysis of PIP2, fluxes of Ca2+, NF-kappaB binding, and transcription of the TNF-alpha gene in murine macrophages

Magnetic resonance imaging brain scans and neuropsychological assessments of 17 children who met the NIH consensus diagnostic criteria for neurofibromatosis Type 1 were carried out in order to determine if there is a relationship between presence of high intensity signal abnormalities on MRI scans and nonverbal cognitive deficits. Cranial MRI scans in 10 patients (58.8%) demonstrated high intensity signal abnormalities, most frequently in the cerebral peduncles. Fifteen patients had nonverbal cognitive deficits (88.2%), including difficulty judging the orientation of lines, matching complex visual stimulus configurations, recalling pictures of faces, as well as copying and drawing from memory a complex geometric figure. There was not a significant association between nonverbal neuropsychological deficits and presence of high intensity signal abnormalities on MRI scans, possibly because the location of these hyperintense abnormalities was typically below the level of the basal ganglia. These findings suggest that the high intensity signal lesions seen on the MRI scans of children with neurofibromatosis Type 1 do not predict or explain their nonverbal cognitive deficits.     

CMA leads drive to improve physicians'' management skills

PURPOSE: To report bilateral aplasia of the optic nerves, chiasm, and tracts in an otherwise healthy infant. METHOD: Case report. RESULTS: Ophthalmologic examination disclosed bilateral microphthalmos and optic nerve aplasia. Physical, neurologic, and genetic evaluations were otherwise normal. Magnetic resonance imaging of the brain and orbits disclosed bilateral aplasia of the optic nerves, chiasm, and tracts. CONCLUSION: Bilateral aplasia of the optic nerves, chiasm, and tracts may occur in an otherwise healthy infant.     

"Born from the flank"--discussion concerning "cesarean section" in animals in the Talmud

We determined growth hormone (GH) and insulin-like growth factor I (IGF-I) levels after a 3 h infusion of escalating doses of growth hormone-releasing hormone (GHRH(1-29)) followed by a bolus injection in hypopituitary patients with marked differences in pituitary features at magnetic resonance imaging (MRI) in order to evaluate further the contribution of MRI in the definition of pituitary GH reserve in GH-deficient patients. Twenty-nine patients (mean age 14.5 +/- 4.0 years) were studied. Group I comprised 13 patients: seven with isolated GH deficiency (IGHD) (group Ia) and six with multiple pituitary hormone deficiency (MPHD) (group Ib) who had anterior pituitary hypoplasia, unidentified pituitary stalk and ectopic posterior pituitary at MRI, Group II consisted of eight patients with IGHD and small anterior pituitary/empty sella, while in group III eight had IGHD and normal morphology of the pituitary gland. Growth hormone and IGF-I levels were measured during saline infusion at 08.30-09.00 h, as well as after infusion of GHRH (1-29) at escalating doses for 3h: 0.2 micrograms/kg at 09.00-10.00 h, 0.4 micrograms/kg at 10.00-11.00 h, 0.6 micrograms/kg at 11.00-12.00 h and an intravenous bolus of 2 micrograms/ kg at 12.00 h. In the group I patients, the peak GH response to GHRH(1-29) was delayed (135-180 min) and extremely low (median 2mU/l). In group II it was delayed (135-180 min), high (median 34.8 mU/l) and persistent (median 37.4 mU/l at 185-210 min). In group III the peak response was high (median 30.8 mU/l) and relatively early (75-120 min) but it declined rapidly (median 14.4 mU/l at 185-210 min). In one group I patient, GH response increased to 34.6 mU/l. The mean basal value of IGF-I levels was significantly lower in group I (0.23 +/- 0.05 U/ml) than in groups II (0.39 +/- 0.13U/ ml, p < 0.01) and III (1.54 +/- 0.46 U/ml, p < 0.001) and did not vary significantly during the GHRH(1-29) infusion. The present study demonstrates that the impaired GH response to 3 h of continuous infusion of escalating doses of GHRH(1-29) was strikingly indicative for pituitary stalk abnormality, strengthening the case for use of GHRH in the differential diagnosis of GH deficiency. The low GH response, more severe in MPHD patients, might be dependent on the residual somatotrope cells, while the better response (34.6 mU/l) in the group Ia patients might suggest that prolonged GHRH infusion could help in evaluating the amount of residual GH pituitary tissue. Pituitary GH reserve, given the GH response to GHRH infusion in GH-deficient patients with small anterior pituitary/empty sella, seems to be maintained.     

Fetal alcohol syndrome

The most notable features of fetal alcohol syndrome involve the face and eyes, and include microcephaly, short palpebral fissures, an underdeveloped philtrum and a thin upper lip. Evidence of intrauterine or postnatal growth retardation, mental retardation or other neurologic abnormalities, and at least two of the typical facial features are necessary to make the diagnosis. Newborns with the syndrome may be irritable, with hypotonia, severe tremors and withdrawal symptoms. Mild mental retardation, the most common and serious deficit, and a variety of other anomalies may accompany fetal alcohol syndrome. Sensory deficits include optic nerve hypoplasia, poor visual acuity, hearing loss, and receptive and expressive language delays. Atrial and ventricular septal defects, as well as renal hypoplasia, bladder diverticula and other genitourinary tract abnormalities, may occur. Complete abstinence during pregnancy is recommended, since alcohol consumption in each trimester has been associated with abnormalities, and the lowest innocuous dose of alcohol is not known.     

Dysgenesis of thyroid is the common type of childhood hypothyroidism in environmentally iodine deficient areas of north India

Forty-five children (28 girls and 17 boys; mean age 4.5 years) with hypothyroidism referred to us from January 1989 to November 1990 were evaluated prospectively for the pattern of hypothyroidism by hormone assays, scintiscan and urinary iodine estimation. Among the 6 children from non-endemic areas, athyreosis and/or hypoplasia were seen in 3, ectopia in 2 and dyshormonogenesis in 1. Of 39 children from moderate to severe environmentally iodine deficient regions, 18 (46%) had athyreosis and/or hypoplasia and 10 (26%) ectopic thyroid. Iodine deficiency was seen in 4, dyshormonogenesis in 4, secondary/tertiary hypothyroidism in 2 and thyroiditis in 1. The mean age of these children at the onset of symptoms was 1.4 years and at clinical presentation 4.5 years. There was significant growth retardation with 54% of children being below the 5th centile of Indian standards. There was no significant difference in the age at onset of symptoms and presentation, clinical features and bone age for the different types. The levels of serum total T4 were significantly low in dysgenesis (athyreosis, hypoplasia and ectopia, p < 0.001). Dysgenesis of the thyroid is the most common type of childhood hypothyroidism in iodine deficiency endemias. We postulate that severe iodine deficiency in the intrauterine and early neonatal period may lead to dysgenesis of the thyroid.     

Profile of some risk factors for coronary heart disease in a developing country: Nigeria

We examined visual evoked potentials and pattern electroretinograms in a patient with Tolosa-Hunt syndrome associated with optic nerve involvement. The 82-year-old woman developed unilateral painful ophthalmoplegia and visual loss in the right eye. Magnetic resonance imaging showed an abnormal soft-tissue area in the right cavernous sinus and the right orbital apex. Symptoms responded rapidly to treatment with corticosteroid. Visual evoked potentials to flash and pattern stimuli were both remarkably reduced and delayed in the right eye in the acute stage; however they improved to almost normal after steroid therapy. The pattern electroretinogram recorded in the acute stage was normal bilaterally. These results indicate that optic nerve involvement in Tolosa-Hunt syndrome can be mild and reversible.     

''Dual positivity'' for neural tube defects and down syndrome at maternal serum screening: gestational outcome

The pattern of anatomical features of the brain revealed by magnetic resonance imaging (MRI) is described in six patients incidentally identified as having acallosal brains. The complex of morphological features associated with complete agenesis of the corpus callosum included lateral displacement of slitlike anterior horns of the lateral ventricles (bullhorn-like shape), dilatation of the posterior horns of the lateral ventricles, absence of the septum pellucidum, lateral displacement of the cingulate gyri, complete separation of fornices and the presence of the anterior commissure and longitudinal callosal bundles (Probst's bundles). No compensatory enlargement of the anterior commissure was seen in the patients. The planimetrically measured cross-sectional areas of the anterior commissures were between 2.0 and 4.2 mm2 (mean 3.1) (in ten normal subjects they were 4.5, SD 0.4; range 3.8-5.2 mm2) and were reduced in four and normal in two patients. Inconstant morphological features were an absence of the posterior commissure and a radial pattern of the sulci and gyri on the medial aspect of the hemispheres. Conventional clinical testing revealed no abnormalities except a slight impairment of walking heel-to-toe in two patients. None of the patients had subjective restrictions of activities of daily life, which shows the efficacy of unknown compensatory processes.     

MRI of lightning injury: early white matter changes associated with cerebral dysfunction

A previously healthy male was struck by lightning. He developed neurologic deficits, including mild cerebral brain dysfunction. Magnetic resonance imaging (MRI) showed numerous foci of hyperintensity on long TR images, scattered throughout the supratentorial white matter. To our knowledge, the early MRI findings of lightning injury have not been previously reported.