Death at High Altitude
Burkhard Madea in Asphyxiation, Suffocation,and Neck Pressure Deaths, 2020
High-altitude cerebral oedema (HACE) has been defined as a condition occurring in persons who have recently arrived at high altitude, usually secondary to AMS or HAPE, and marked by disturbances of consciousness potentially progressing to deep coma, psychiatric changes of varying degree, confusion and ataxia of gait [16]. It is mostly seen as an aggravatio per continuitatem of severe AMS and occurs commonly with HAPE. As in HAPE, reported incidences vary substantially and have been described (conceding obvious differences in study designs, ascent rates and data acquisition) ranging from 0.5 per cent (varying rates of ascent in 5355 visitors to 4555 m in Tibet) [6] to 31 per cent (Vedic pilgrims at 4300 m in Nepal) [7]. HACE most commonly develops over 24–48 hours after initial symptoms of AMS have been detected. Typically, changes in consciousness with drowsiness, progressing lassitude and evident confusion are accompanied by ataxic gait [16]. The initial state of HACE has been compared to the state of mild drunkenness [8]. Patients presenting symptoms of HACE necessitating hospitalization should receive a complete evaluation including a complete history as well as a physical and laboratory examinations including serum electrolytes, blood cell count and renal function. Examination of cerebrospinal fluid may be used to rule out central nervous system (CNS) infections. CNS imaging using magnetic resonance (MR) tomography (e.g. FLAIR, DWI, SWI) may be helpful if available.
Human Erythroenzymopathies Of The Anaerobic Embden-Meyerhof Glycolytic And Associated Pathways
Ronald L. Nagel in Genetically Abnormal Red Cells, 2019
Recently, two siblings with severe TPI deficiency have been extensively evaluated in terms of their neurological dysfunction and the relevant available literature reviewed.68 It was concluded that lower motor neuron disease documented by EMG in five patients was responsible for weakness, often predominant in the legs, loss of tendon reflexes, and hypotonia. However, weakness of the diaphragm, laryngeal muscles, and facial diplegia have also been reported. Spasticity and pyramidal tract signs in certain patients and dystonia, tremor, and rhythmic jerky movements were considered to point to brainstem and basal ganglia involvement. The symptoms and signs are variable, and probably change from time to time as disease progresses. There is no convincing evidence of mental retardation or of cortical or sensory involvement. The computed tomagraphic (CT) scans of the brain, as well as EEG, were normal in two patients carefully studied. Cerebrospinal fluid has been normal in all cases where it has been examined. The nature and mechanism of the neurological disorder remain unknown.
Cognitive decline and Alzheimer’s disease
Claude Leray in Dietary Lipids for Healthy Brain Function, 2017
In neuropsychology, Alzheimer’s disease differs from mild cognitive decline by a movement toward a loss of autonomy followed by disability. In both cases, the first signs are identical, and the same psychometric tests, such as the MMSE and the TMT (Section 7.9), are often used to establish a diagnosis. Some patients have a rapid decline (loss of at least 3 MMSE points in 1 year) that has a poor prognosis, whereas others have a slower decline. The diagnosis of the disease may be established not only on the basis of an evolution of cognitive functions, by using, for example, the specific Alzheimer Disease Assessment Scale-cognitive (ADAS-cog, Section 7.9), but also more recently through imaging techniques (computerized tomography, MRI). These new procedures allow to appreciate a possible atrophy of specific brain areas, such as the hippocampus, but they will be soon complemented by positron emission tomography scans enabling the quantification of amyloid deposits and thus a more accurate diagnosis. Analysis of blood and cerebrospinal fluid may also be used. Research is nevertheless required to establish the validity of these promising new tools.
Neurosarcoidosis As a Rare Differential Diagnosis for Single Or Multiple Lesions of the Nervous System
Published in British Journal of Neurosurgery, 2020
Christian Blume, Izabela Tuleta, Kay Nolte, Klaus W. Eichhorn, Mark Jakob, Hans Clusmann, Thorsten Send
For the evaluation of neurological manifestations, contrast-enhanced MRI is a very sensitive, but unspecific diagnostic tool.19 A basilar leptomeningeal involvement is the most frequent finding in neurosarcoidosis.20 However, MRI findings do not always correlate with the clinical symptoms.21 A further contribution to the diagnosis of neurosarcoidosis may come from the analysis of cerebrospinal fluid. Pleocytosis, high protein content and reduced glucose concentrations may support the diagnosis of neurosarcoidosis. Further changes in cerebrospinal fluid such as increased concentrations of ACE, IgG-index, oligoclonal bands, CD4/CD8 lymphocyte ratios, lysosomes and beta-2 microglobulin were reported in NS.20 However, about one third of NS patients have normal fluid results.13 Although fluid findings are not specific for NS, the analysis of cerebrospinal fluid is an important method to exclude other disorders, particularly infectious ones.18
Bone marrow involvement in sarcoidosis: an elusive extrapulmonary manifestation
Published in Journal of Community Hospital Internal Medicine Perspectives, 2019
J. Isaac Peña-Garcia, Sana Shaikh, Bhishma Barakoti, Christos Papageorgiou, Alexandre Lacasse
Further hematological studies revealed low iron (35 [50–170 μg/dL]), iron saturation (19 [20–50%]), transferrin (148 [250–380 mg/dl]) and total iron binding capacity (185 [240–450 mg/dL]) but normal ferritin (135 [10–291 ng/mL]). Serum folate (6.6 [3.1–17.5 ng/mL]), vitamin B12 (482 [211–911 pg/mL]) and copper (137 [72–166 μg/dL]) levels were normal. Angiotensin converting enzyme (147 [14–82 U/L] and immunoglobulin G (1855 [700–1600 mg/dL]) were raised. Other tests included human immunodeficiency virus (HIV) p24 antigen and HIV-1/2 antibody, QuantiFERON-TB Gold, Monospot, anti-myeloperoxidase and anti-proteinase 3 antibody, p-antineutrophil cytoplasmic antibody (ANCA) and c-ANCA and were unremarkable. Cerebrospinal fluid studies were normal. Contrast-enhanced computerized tomography (CT) of chest, abdomen and pelvis revealed diffuse lymphadenopathy along the esophagus, adjacent to the gastroesophageal junction and pancreatic tail, as well as in the periaortic and pericaval retroperitoneal regions. In addition to hepatosplenomegaly, a right upper lobe spiculated pulmonary nodule was described. Radiological findings were suggestive of a lymphoma or bronchogenic malignancy, though sarcoidosis remained a possibility.
Diaphragmatic palsy in a 10-month-old boy with infantile tremor syndrome causing respiratory failure with full response to vitamin B12 therapy
Published in Paediatrics and International Child Health, 2020
Neha Bidhuri, Vishal Kumar, Ruby Singh, Dhirendra Pratap Singh, Sheetal Agarwal, Devki Nandan
He was commenced on oxygen and nebulised salbutamol, parentral bronchodilators and antibiotics. On Day 2 of admission, he was intubated and commenced on mechanical ventilation (synchronised pressure control mode) owing to worsening of paradoxical breathing and bilaterally absent breath sounds. Following artificial ventilation, breath sounds improved markedly and were vesicular with no added sounds. However, when changed to spontaneous breathing, abdominal in-drawing on inspiratory phase (paradoxical breathing) returned which was aggravated by reducing ventilatory pressures. In view of this observation with the diaphragm domes remaining high on repeated chest radiographs, the possibility of diaphragmatic palsy was considered and confirmed by bedside ultrasonography. Ultrasonography (B-mode and M-mode) demonstrated complete absence of movement of both domes of the diaphragm. Renal and liver function tests and serum electrolytes including magnesium and calcium were normal. Thyroid function tests, blood gas analysis, serum ammonia, arterial blood lactate and urinary ketones were also normal. Cerebrospinal fluid analysis (cytology, biochemistry, microbiology) was normal. A bedside electro-encephalogram showed diffuse slow electrical activity. Magnetic resonance imaging (MRI) of the brain demonstrated diffuse cerebral atrophy with prominent sylvian fissure and a bilateral subdural fluid collection over the frontal area. MRI of the spine was normal. The mother’s vitamin B12 level was 138.7 pmol/L (182–672).