Diffuse Brainstem Lesions Research Articles

10 Comprehensive Neuropsychological Findings in Erdheim-Chester Disease: Case Report

Objective:Erdheim-Chester disease (ECD) is a rare disorder characterized by excessive production and accumulation of histiocytes within multiple tissues and organs. ECD primarily affects adults, and symptoms vary depending upon the specific location and severity. Etiology is not always known, but some patients with ECD may have a non-inherited genetic change that allows histiocytes to reproduce uncontrollably. Currently, the cognitive outcomes of ECD are not well understood, and there are no previous neuropsychological findings in the literature. Thus, the objective of this case study was to describe the neuropsychological presentation and findings of an ECD case to inform diagnosis and treatment better.Participants and Methods:The patient was a 64-year-old white, non-Hispanic, right-handed man diagnosed with ECD in 2017. ECD accounted for a constellation of medical problems, including diabetes insipidus, hypogonadism, and interstitial lung disease. A brain MRI in 2018 revealed orbital nodularities and pituitary infiltration thought to be consistent with ECD. The patient first noticed cognitive functioning difficulties in 2020 primarily related to short-term memory. Approximately two years later, he noted significant cognitive changes, including difficulties recalling recent events, dates, and conversations, problem-solving, and planning. He had difficulty driving and had two recent car accidents when leaving his driveway. Physically, he reported increased fatigue, unsteadiness, and occasional falls. In 2022, he had a brain MRI that demonstrated a progression of multiple diffuse cerebral, cerebellum, and brainstem lesions and cerebral volume loss compared to prior imaging. He was referred for a neuropsychological assessment to rule out a neurodegenerative disorder.Results:Neuropsychological data demonstrated moderate-to-severe deficits on tests of basic spatial working memory, visually based processing speed, visual memory, letter verbal fluency, and semantic verbal fluency. He demonstrated mild-to-moderate deficits on tests of basic auditory attention, verbal memory, higher-level visuospatial processing, abstract nonverbal reasoning, multistep, organization and planning, self-monitoring of performance quality, and fine hand and motor dexterity. He demonstrated variable initial learning of new information across modalities, although he did benefit from structured verbal material. Recognition was variable, with difficulty demonstrated in discriminating visual information presented, from similar competing information, along with availability recalling visual information. He showed average auditory-based divided attention, confrontational object naming, and abstract verbal reasoning. Regarding his emotional functioning, he reported mild depressive and anxiety symptoms.Conclusions:To the best of our knowledge, this is the first report documenting detailed neuropsychological data on this rare disease. The case study documents widespread cognitive deficits with greater difficulty with visually based abilities than verbal abilities. Specifically, patients with ECD may present with cognitive difficulties in visual learning and memory, processing speed, visuospatial processing, select areas of executive/frontal systems, letter and semantic verbal fluency, and fine motor dexterity.

Brain Magnetic Resonance Imaging Findings of Pediatric Hemophagocytic Lymphohistiocytosis Could Be Diagnostic and Life-Saving

BackgroundHemophagocytic lymphohistiocytosis (HLH) is a rare and fatal disease and may also present with central nervous system findings at the beginning without specific diagnostic criteria. Brain magnetic resonance imaging (MRI) findings are diverse and can also be diagnostic. We aimed to emphasize the importance of brain MRI findings in the early diagnosis of this fatal disease. MethodsMRI findings, clinical presentations, treatment response, and prognosis of seven patients with HLH were described. ResultsThere were seven pediatric patients who were initially diagnosed with HLH with neurological findings without systemic signs of HLH: four as primary, two as secondary, and one as possible primary HLH. All patients had contrast-enhancing diffuse cerebellar and brainstem lesions; patchy periventricular and callosal cerebral lesions were observed. Thalamus involvement was found in three (42.8%), corpus callosum involvement in six (85.7%), and cervical spinal involvement in one (14.2%). Patients were followed up with these MRI findings, with prediagnoses of toxic, metabolic, infectious, vascular, and demyelinating diseases. Not all patients met the HLH diagnostic criteria due to incomplete systemic/laboratory findings; therefore, only two were immediately directed for hematopoietic stem cell therapy. Four died shortly after admission, one patient could not be followed up after HLH treatment, and two patients who fulfilled the HLH diagnostic criteria underwent hematopoietic stem cell transplantation and survived. ConclusionsBrain MRI findings, especially in the presence of neurological findings, allow for early diagnosis, which can be life-saving. These common features in brain MRI findings should be evaluated with this suspicion and included in HLH diagnostic criteria.

A rare case of undulatory rhythmic lingual myoclonus in a patient with intracranial hemorrhage and diffuse pontine lesion

We describe a 35-year-old man, who suffered a severe intraventricular hemorrhage and was admitted to the intensive care unit of our tertiary clinic. Two weeks after the incident, while in ICU, a neurological examination revealed persistent, undulating, rhythmic, myoclonic tongue movements. The diagnostic evaluation via CT scan, MRI and EEGs elicited a diffuse brainstem lesion as well as multiple corpus callosum lesions as a considerable underlying etiology. This case presentation attempts to update the current investigation of the rare phenomenon of lingual myoclonus.

Brainstem encephalitis caused by Coxiella burnetii

Coxiella burnetii is the causative agent of Q fever, which rarely causes neurologic symptoms. We describe a patient who presented with progressive sensory changes, dizziness, and motor weakness. The cerebrospinal fluid revealed pleocytosis, and MRI indicated the presence of a diffuse brain stem lesion. An indirect immunofluorescence test revealed antibodies against C. burnetii. The symptoms improved with antibiotics against C. burnetii. Q fever should be considered as a possible etiology of brainstem encephalitis.

Correlation among magnetic resonance imaging findings, prognostic factors for survival, and histological diagnosis of intrinsic brainstem lesions in children

The aim of this study was to compare MR imaging characteristics with histopathological findings of intrinsic brainstem lesions and also to show the prognostic factors in patients with diffuse brainstem glioma. Between February 1988 and August 2007, 44 brainstem biopsies were performed at the Roger Salengro Hospital in Lille, France, in children with intrinsic brainstem lesions not amenable to excision. Twenty-six were female and 18 male, and the mean age was 6 years. Histological evaluation revealed diffuse brainstem glioma in all patients with diffuse nonenhancing brainstem lesions. Diffuse brainstem glioma was found in 18 patients (90%) with diffuse enhancing brainstem lesions. Pathological entities different from diffuse glioma were verified in 2 patients (10%)-1 with ependymoma and 1 with ganglioglioma. In 4 of 5 patients with a focal nonenhancing brainstem lesion, the histopathological diagnosis was diffuse low-grade glioma. In 6 of 10 patients with focal enhancing brainstem lesion, the diagnosis was diffuse brainstem glioma, and pathological entities different from diffuse brainstem glioma were verified in 2 (20%), both with pilocytic astrocytoma. The mean 1-year actuarial survival rates for patients classified with low-grade and high-grade glioma were 80.4% ± 0.08% and 48.6% ± 0.14%, respectively. The impact of stereotactic biopsy on intrinsic brainstem lesions was greater in patients with MR imaging-documented enhancing lesions in whom the diagnosis of diffuse glioma was less frequent. Patients with low-grade glioma seem to have longer survival than those with high-grade glioma.

Differential Diagnosis of T2 Hyperintense Brainstem Lesions: Part 2. Diffuse Lesions

Diffuse brainstem lesions are poorly defined, often large abnormalities and include tumors (gliomas and lymphomas) vasculitis (Behçet's disease), traumatic brainstem injury, degenerative disorders (Wallerian degeneration), infections, processes secondary to systemic conditions (central pontine myelinolysis, hypertensive or hepatic encephalopathy), and ischemic pathology (leukoaraiosis). Magnetic resonance imaging is the most appropriate imaging modality to use in evaluating lesions of this type, but often findings are nonspecific. Therefore, radiologists need to bear in mind such additional information as patient age and clinical features in making a differential diagnosis.

Spontaneous remission of a diffuse brainstem lesion in a neonate

We describe here the spontaneous remission of a diffuse brainstem lesion found in an infant at the age of 7 weeks. Clinical and MRI characteristics strongly suggested a diffuse pontine glioma. Repeated MRI studies showed a continuous decrease in the size of the lesion, which was no longer visible by the age of 27 months. Spontaneous remission of diffuse pontine glioma is extremely rare; to our knowledge there are reports of only three similar cases.

Central Nervous System Hemangiosarcoma in a Horse

An 18-year-old 600-kg Percheron cross gelding presented with neurologic signs of 24-hour duration. The gelding had no history of illness. Initial physical examination showed abnormalities that included a small corneal ulcer in the left eye and periocular skin abrasions on the right side. The gelding had depressed mentation and right head turn. The horse circled to the right, had a tendency to lean and fall to the right, and was ataxic in all limbs. Cranial nerve dysfunction included bilateral facial paralysis, spontaneous horizontal nystagmus (fast phase to the left), diminished tongue tone (without appreciable atrophy), right nasofacial hypalgesia, and pharyngeal dysphagia. General proprioceptive deficits were present in the right thoracic and pelvic limbs, while extensor tone was present in the left thoracic and pelvic limb muscles. Neurologic examination findings were consistent with a diffuse brainstem lesion, mainly on the right side and extending from the rostral to the caudal medulla. A right telencephalic or diencephalic lesion could not be ruled out to explain the head turn and circling to the right. Based on the presence of a diffuse or multifocal lesion and neuroanatomic lesion localization, the primary differential diagnosis included infectious causes of meningoencephalitis (equine protozoal meningoencephalomyelitis [EPM], atypical presentation of equine herpes virus I, rabies, or West Nile virus), trauma, and neoplasia with associated mass effect. Although the clinical signs were acute in onset, trauma was not likely, given the multifocal nature and region of the brain involved. Neoplasia was considered possible due to brainstem involvement; however, acute onset is unlikely with brain tumors. Neoplasia remained on the list of possible causes, as some of the clinical signs may have been missed before presentation or if hemorrhage was associated with the tumor. The left facial nerve paralysis was attributed to trauma that occurred during transportation, as the referring veterinarian reported that the horse did not have evidence of the left corneal ulceration immediately before referral. Other than a mild lymphopenia (1,863 3 10 3 /mL; refer

Spontaneous regression of a diffuse brainstem lesion in the neonate

The authors present two cases of diffuse brainstem lesions that regressed without treatment. Two newborns presented with cranial nerve palsies and limb weakness at birth. Magnetic resonance (MR) images obtained in the 1st week of life revealed a large, expansive pontomedullary lesion in each patient. Findings of clinical and imaging examinations were highly consistent with the characteristics of diffuse brainstem glioma. After consultation with the parents of both infants, all parties agreed to forgo the treatment modalities available at the time. Neither patient underwent surgery, radiation treatment, or chemotherapy; both underwent routine neurological and MR imaging examinations. Within weeks the patient in Case 1 started to improve clinically and at 4 years of age has reached nearly all developmental milestones. Serial MR images demonstrated a steady decrease in the size of the lesion. The patient in Case 2 improved in a similar manner and is now 10 years old. The findings from these two cases should encourage families and clinicians to consider that a subcategory of diffuse lesions may exist, particularly in the neonatal period. It must be stressed, however, that nearly all patients with diffuse brainstem lesions experience a poor outcome, regardless of tumor grade or treatment. Brainstem gliomas, spontaneous regression of central nervous system tumors, and the differential diagnoses of brainstem lesions are discussed.

Pediatric Surgical Neuro-Oncology: Current Best Care Practices and Strategies

Significant advances have been made in the diagnosis and treatment of childhood brain tumors. Gross total surgical resection combined with appropriate adjuvant therapies can achieve a high rate of disease control for low grade gliomas, ependymomas and medulloblastomas. High grade gliomas, tumors involving the optic apparatus or diencepahalic structures, diffuse brainstem lesions, and recurrent or metastatic disease still pose considerable therapeutic challenges. We review the current treatment strategies of the three most common types of pediatric brain tumors: gliomas, medulloblastomas and ependymomas, and discuss current and future diagnostic and therapeutic modalities.

Stereotactic biopsies of focal brainstem lesions

Background Stereotactic biopsies of the brainstem (SBB) are a selected group of stereotactic operations owing to the lower incidence of brainstem lesions requiring biopsy, the greater complexity, and the higher risks of these procedures. Usually, the lower the lesion in the brainstem, the greater the risks involved. The approach of the different target locations by distinct routes, transcerebral and transcerebellar, is still a matter of debate. Moreover, pure medullary lesions are seldom biopsied, whereas diffuse brainstem lesions, typical of children's brainstem gliomas and rather frequent in most published series, depend less and less on the histopathological confirmation for treatment. In this study, the authors present their own experience on SBB aiming to discuss mainly their indications, approach routes choice, and procedure techniques. Methods The authors reviewed a series of 30 SBB (27 adults and 3 children) out of 450 stereotactic biopsies of the central nervous system performed for the last 10 years. All cases but one presented as focal brainstem masses, 19 mainly in the pons and 10 in the midbrain. Eleven lesions (10 in the midbrain and one midbrain-pontine) were approached by a transfrontal route. All the others were approached by a suboccipital transcerebellar route. Results Twenty-six (87%) out of the 28 cases (93%) where a positive histopathological result was obtained had a specific diagnosis: 18 tumors (14 astrocytomas, 2 primary brain lymphomas, 1 oligodendroglioma, and 1 ganglioglioma), 2 toxoplasmosis, 2 sarcoidosis, 1 aspergillus abscess, 1 vasculitis, 1 acute inflammatory demyelinating disease, and 1 progressive multifocal leucoencephalopathy. Four nontumoral lesions arose in patients with AIDS. Morbidity was restricted to 2 cases consisting of transient cranial nerve deficits. Conclusions Stereotactic biopsies are specially useful for the diagnosis of focal brainstem lesions. Midbrain and midline lesions should be approached through the cerebrum, whereas most of the pontine lesions through the cerebellum. Overall, this procedure should be performed with “functional-like” precision and require some technical refinements to reach maximal accuracy with minimal morbidity.

The management of brainstem gliomas in patients with neurofibromatosis 1.

The appropriate management of brainstem tumors in patients with neurofibromatosis 1 (NF1) has been problematic because the natural history of these lesions remains poorly defined. To formulate rational guidelines for the evaluation and treatment of these tumors, we reviewed the outcome of 21 patients with brainstem mass lesions followed in our NF clinic during the last 9 years. We subdivided the imaging features of these lesions into four groups: (1) diffuse enlargement of the brainstem with hypointensity on T1-weighted MR images and hyperintensity on T2-weighted images (n = 9); (2) focal enhancing masses (n = 7); (3) intrinsic tectal tumors (n = 5); and (4) focal nonenhancing areas of hypointensity on T1-weighted MR images (n = 2). Two cases exhibited two types of lesions. Twelve patients presented with, or developed, symptoms that were referable to the mass; in nine, the lesion was asymptomatic. A distinguishing feature of these tumors was their generally indolent biological behavior. With a median follow-up of 3.75 years, only 10 patients have had radiographic (n = 9) or clinical (n = 3) evidence of disease progression. In seven of these patients, the tumor subsequently stabilized in size or regressed without intervention. Only four patients, each with a focal enhancing tumor, received specific therapy for the tumor; this consisted of biopsy (n = 1), excision (n = 3), and adjuvant radiotherapy (n = 2). Each of these lesions was a low-grade glioma histologically and each remained stable in size after treatment (median follow-up = 4.25 years). Four patients with tectal tumors underwent insertion of a CSF shunt for hydrocephalus, but required no specific treatment for the tumor. None of the patients with diffuse brainstem lesions or focal areas of hypointensity required any intervention for the tumor. All 21 patients are presently alive and well. We conclude that the biological behavior of brainstem lesions in patients with NF1 differs significantly from that of lesions with a similar appearance in patients without this disorder. Although these lesions may at some time in their course exhibit clinical and radiographic progression, most do not require specific intervention. The lesions that are most likely to progress and require therapy are focal enhancing tumors; however, even lesions in this subgroup may stabilize in size or regress spontaneously without intervention. Based on these results, we recommend that intervention be limited to those lesions that exhibit rapid or unrelenting growth on serial images or that produce significant clinical deterioration.

Evoked potentials and brain stem reflexes.

The recording of evoked potentials (EPs) has become one of the most useful functional diagnostic techniques in the neurosciences during recent years. In combination with the neurophysiological investigation of brain stem reflexes (BSRs) EPs provide good information concerning circumscribed and diffuse brain and brain stem lesions. In this article the role of EPs and BSRs will be pointed out with special regard to their use in neurosurgery concerning awake and comatose patients as well. Pathological findings caused by extracerebral factors or due to neurological (systemic) and otological diseases will be discussed from the aspect of differential diagnosis only. Evoked potentials described in this paper are short latency potentials which are related to more or less defined generators in the peripheral and central nervous system. EPs of long latency seem to play a role in cognitive, affective and integrative functions of the central nervous system and they will not be dealt with in this article. In recent years an increasing number of review articles and monographs dealing with several aspects of evoked potentials has appeared [16, 17, 18, 25, 69, 80, 84, 122, 123, 124, 127, 130].

Characteristics and surgical management of respiratory complications accompanying pathologic lesions of the brain stem.

Three life-threatening respiratory complications are regularly encountered in patients who survive the initial insult from a diffuse brain stem lesion--central alveolar hypoventilation, upper airway obstruction, and aspiration pneumonitis. From treating 13 patients who did survive, a surgical plan for managing the respiratory sequelae of such injuries has evolved and consists of: 1)Diaphragm pacing to correct hypoventilation; 2) tracheostomy for bypass of the upper airway obstruction; 3) gastrostomy for bypass of the impaired structures of swallowing; 4) surgical closure of the larynx to prevent aspiration. All 13 patients manifested central apnea, which was controlled in five by bilateral phrenic nerve stimulation and in eight by unilateral stimulation. All patients required tracheostomy to provide an airway for artificial ventilation and for secretion removal. In ten patients aspiration necessitated gastrostomy. The spontaneous recovery of the ability to swallow allowed closure of the gastrostoma in three but in others aspiration remained a serious complication. One patient died of massive aspiration after discharge from the hospital. Three patients had surgical closure of the larynx to prevent aspiration. Seven patients are alive; six of them are leading productive lives, though several have severe disability due to paresis or ataxia. Six died after discharge from the hospital. Three deaths were not related to the basic problem but the three others may have been.

Cultural Aspects of Delusion

The analysis of symbolic behavior and communication, which was first described by Sapir and Whorf, is extended by Dr. Weinstein in clarifying the role of psychotic processes as a mode of adaptation in the social field. In previous publications the author described brain damaged patients, including those with diffuse injury or brain stem lesions, who then developed obscure language and gestural patterns which were nevertheless integrated patterns with social and dynamic significance. The thesis of this research is that symbols and symbolic behavior are structured early and provide one with a sense of reality. Under the stress of illness, whether it is organic (brain damage) or functional (schizophrenia), we select early learned preferred systems of intimate communication. The author chose the Virgin Islands to investigate the significance of cultural factors in delusions. There are four subcultures extant in these islands: native (British and American Virgin Islanders), continentals, French, and Puerto

Factors influencing the prognosis of cerebral thrombosis and infarction due to atherosclerosis

A prospective study was made of the survival of 100 patients with cerebral infarction or ischemia due to atherosclerosis. During the initial hospitalization, 10 patients died as a result of the acute infarction or its complications. In the ensuing 2 years, 23 additional patients died—usually from cerebral or systemic vascular disease. Increased mortality was found in patients having a history of previous cerebral infarction, signs of diffuse or bilateral brain stem lesions, or severe hypertension. Approximately one-fourth of the survivors returned to work. The serious prognosis of cerebral infarction is demonstrated by this study, and attention is directed to the high rate of recurrence (20 per cent) of cerebral infarction among the immediate survivors. Although treatment of the generalized atherosclerosis and its thromboembolic complications may be successful in decreasing the over-all mortality, a more definitive therapeutic approach to the cerebral vasculature by surgery or other means appears necessary to reduce the high mortality and morbidity caused by recurrent strokes.