Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 4-week-old male infant was admitted to the hospital with acute gastrointestinal bleeding and marked coagulopathy secondary to vitamin K malabsorption in the presence of cholestasis. Physical examination revealed hepatomegaly and cutaneous haemangiomas. Ultrasonography, CT, and MRI demonstrated a multifocal vascular process and allowed the diagnosis of infantile hepatic haemangioendothelioma to be made without the use of more invasive diagnostic procedures. To avoid high-output congestive heart failure, the patient was treated with oral corticosteroids. After 5 months, rapid involution of the vascular malformations ensued. At age 2 years, a magnetic resonance scan confirmed complete resolution of the hepatic haemangioendothelioma.
 ...
PMID:Imaging diagnosis and follow-up of infantile hepatic haemangioendothelioma: a case report. 815 13

The association of celiac disease, epilepsy and occipital calcifications with initial clinical manifestations of epilepsy during the first two decades of life with an often progressive and variable course and clinical expression of malabsorption has recently been described. Two cases of celiac disease with occipital calcifications and a presentation with neurologic symptoms in adulthood are reported. The first case is that of a 40-year-old male who presented recurrent and alternating pure brachial monoparesis and later acute abdominal pain following which celiac sprue was diagnosed. The second case is that of a 53-year-old woman diagnosed with celiac sprue 20 years before, presenting permanent myoclonus in the lower limbs which were progressive in severity, ataxic march and generalized tonoclonic seizures. Both patients had bilateral occipital calcifications on CT and celiac disease was demonstrated on biopsy. The first case also showed marked signal alteration in the white matter on MRI. Celiac disease with cerebral calcifications presents also in adulthood with atypical clinical manifestations. Suspicion of celiac disease may be confirmed by non-invasive methods such as antigliadin and antiendomysium antibody determination. CT imaging is characteristic.
 ...
PMID:[Celiac disease with occipital calcifications: 2 late cases]. 855 80

We describe a patient with a progressive neurological disorder consisting of ataxia, loss of proprioception and pyramidal tract dysfunction in his sixth decade. He had severe vitamin E deficiency due to fat malabsorption secondary to chronic inflammatory bowel disease. Sural nerve biopsy revealed a reduced number of myelinated fibres. MRI of the cervical spine showed high-signal lesions on T2-weighted images in the posterior columns, correlating well with the clinical findings.
 ...
PMID:Spinal MRI in progressive myeloneuropathy associated with vitamin E deficiency. 881 95

The disease is named after George H. Whipple who, in 1907, was the first to describe an intestinal "lipodystrophy". Although Whipple's disease is generally recognized as a multisystem chronic granulomatous disease, primarily involving the digestive system, it can also appear as a primary neurological disorder in rare cases. Most often it is manifested with loss of weight, diarrhea, malabsorption, abdominal pain, lymphadenopathy, cardiopathy, hyperpigmentation and hypotension. The presence of periodic acid-Schiff (PAS)-positive macrophages in biopsy specimens (not only jejunal) and demonstration of "Whipple's bacilli" visible by electron microscopy, are diagnostic signs of active Whipple's disease. Whipple's disease confined to the CNS is rare. It is rarely found in the differential diagnosis of patients with progressive neurological deterioration. The most common neurological picture includes progressive dementia, external ophalmoplegia, myoclonus, seizures, ataxia, hypothalamic dysfunction (sleep disorders, hyperphagia, polydipsia) and meningitis. Oculofacial-skeletal myorhythmia as a movement disorder, associated with Whipple's disease, is reported. Fulminant course of cerebral Whipple's disease is unusual and unfavourable. The confusing and nonspecific clinical appearance is typical for primary CNS involvement. It has recently been suggested that CNS involvement occurs in all cases, although only 10-20% of patients may show it. The CNS is the most common site of disease relapse. The CT scans and MRI of the brain are often normal, but may show cortical/subcortical atrophy, hydrocephalus, focal or intracerebral mass lesions. The cerebrospinal fluid can sometimes contain PAS-positive macrophages. Brain biopsy is suggested as a diagnostic method in cases of high suspicion of CNS Whipple's disease. However, the lesions are frequently inaccessible and false negative. Without extended antibiotic therapy, the course of Whipple's disease is lethal. Now, the prognosis is good, although the optimal antimicrobial regimen is not clearly established. Initial parenteral therapy (tetracycline, penicilline, streptomycine, chloramphenicol, ampicilline) and peroral long-term treatment with trimetoprime-sulphametoxasole, are recommended. As CNS relapse of Whipple's disease may occur after several years, long-term treatment should include antibiotics that are able to cross the blood-brain barrier. The CNS relapse, in contrast to the systemic ones, is resistant to the treatment. Appropriate therapy instituted earlier in the course of the disease is associated with a better neurological outcome. Early recognition can be critical in Whipple's disease because of irreversible neurological sequelae seen later in the course of this potentially treatable condition. In cases with high clinical suspicion in which Whipple's disease cannot be diagnosed with procedures such as jejunal biopsy, antibiotic therapy is recommended. Recovery of an established neurological deficit may rarely occur. Longterm follow-up studies would help to identify the optimal antibiotic regimen and duration of treatment.
 ...
PMID:[Neurologic disorders in Whipple's disease]. 910 28

Wernicke's encephalopathy is an uncommon disorder caused by a thiamine deficiency which is clinically characterized by the triad of ophthalmoplegia, ataxia and disturbances of consciousness, each finding being variably present. The disease is caused by malnutrition or malabsorption, and is often associated with prolonged alcohol intake, neoplasm and extensive inflammatory processes of the digestive tract and parenteral hyperalimentation-induced gastrointestinal mucosal atrophy. Clinical diagnosis can be elusive and MRI may be the only imaging technique able to detect the cerebral lesions, whose type and distribution are characteristic of the Wernicke's encephalopathy, whereas CT is positive only in exceptional cases. We report a case of a 56-year-old woman who developed a Wernicke's encephalopathy 1 month after a colonic resection with signal intensity changes located in the mammillary bodies and in the medial thalamic nuclei.
 ...
PMID:Magnetic resonance imaging in a case of Wernicke's encephalopathy. 968 4

In Crohn's disease, some concomitant neurological illnesses such as cerebral ischemia following arterial or venous thrombosis, subacute combined degeneration of the spinal cord following malabsorption of vitamin B12 or folic acid, opticus neuropathy, and polyneuropathy have been described. Cerebral vasculitis secondary to Crohn's disease seems to be a very rare phenomenon. We report on three such cases in three female patients (aged 26, 29, and 61 years). All patients became symptomatic with a hemiparesis; one complained additionally of a speech disorder, headache, and intermittent loss of orientation. In CT and MRI scans, multiple lesions were detected; cerebral angiography showed multiple stenoses of middle- and large-sized vessels that were compatible with cerebral vasculitis. Serologic tests concerning vasculitis were inconspicuous at that time. Under anticoagulation (in two cases) and immunosuppressive therapy, neurologic symptoms disappeared. In the following 6 to 12 months, no new neurological symptoms appeared. In two cases, Doppler sonographic controls showed stationary and, in one case, progressive intracranial stenoses. Since autoimmunologically caused inflammatory bowel diseases might be associated with vasculitis of other organs, the appearance of cerebral vasculitis secondary to Crohn's disease is a possible organ manifestation by inflamed vessels.
 ...
PMID:[Cerebral vasculitis as a concomitant neurological illness in Crohn's disease]. 1079 98

Four patients, three women aged 49, 47 and 74 years, and a man aged 64 years, presented with progressive sensory deficit, pyramidal tract symptoms and postural instability. Tests revealed megaloblastic anaemia and low vitamin B12 levels. Two of the female patients had undergone gynaecological surgery with nitrous oxide anaesthesia, and the male patient had undergone a gastric resection. Subacute combined degeneration of the spinal cord is a neurological disease based on vitamin B12 deficiency. It involves the posterior and lateral columns of the spinal cord, and sometimes the peripheral nerves, the optic nerve or the brain. An MRI scan of the cervical cord revealed abnormalities for three of the four patients. Following parenteral supplementation of vitamin B12, the symptoms and the MRI abnormalities either disappeared or significantly improved. Vitamin B12 deficiency can cause subacute combined degeneration of the cord by interfering with myelin synthesis. As vitamin B12 deficiency is caused by malabsorption in the gastrointestinal tract, oral supplementation is insufficient. It is essential to recognise this treatable disease at an early stage, and not to reject the possible diagnosis if the MRI findings are abnormal. Simple blood tests can lead to the diagnosis and to effective treatment.
 ...
PMID:[Subacute combined degeneration of the spinal cord: easy diagnosis, effective treatment]. 1172 22

The traditional theory of communicating hydrocephalus has implicated the bulk flow component of CSF motion; that is, hydrocephalus is generally understood as an imbalance between CSF formation and absorption. The theory that the cause of communicating hydrocephalus is malabsorption of CSF at the arachnoid villi is not substantiated by experimental evidence or by physical reasoning. Flow-sensitive MRI has shown that nearly all CSF motion is pulsatile, and there is substantial evidence that hyperdynamic choroid plexus pulsations are necessary and sufficient for ventricular dilation in communicating hydrocephalus. We have developed a model of intracranial pulsations based on the analogy between the pulsatile motion of electrons in an electrical circuit and the pulsatile motion of blood and CSF in the cranium. Increased impedance to the flow of CSF pulsations in the subarachnoid space redistributes the flow of pulsations into the ventricular CSF and into the capillary and venous circulation. The salient features of communicating hydrocephalus, such as ventricular dilation, intracranial pressure waves, narrowing of the CSF-venous pressure gradient, diminished cerebral blood flow, elevated resistive index and malabsorption of CSF, emerge naturally from the model. We propose that communicating hydrocephalus is the result of a redistribution of CSF pulsations in the cranium.
 ...
PMID:A model of pulsations in communicating hydrocephalus. 1207 74

Two sisters developed gastrointestinal malabsorption with pain and unsteady gait due to polyneuropathy at age 15. Both had ophthalmoplegia, neurogenic EMG, and COX-negative muscle fibers. One patient had low muscle complex I-IV activity, multiple mtDNA deletions, and depletion, but no thymidine phosphorylase (TP) or dNT-2 gene mutations. TP activity and brain MRI were normal. The condition resembles mitochondrial neurogastrointestinal encephalomyopathy, except for the absence of leukoencephalopathy, and is likely caused by a nuclear DNA mutation that disrupts intergenomic signaling.
 ...
PMID:Multiple mtDNA deletions with features of MNGIE. 1229 82

A remarkable, intermittent sudden-onset vigilance and movement disorder in an exclusively breast-fed infant is reported, which was caused by cobalamin depletion due to maternal vitamin B12 malabsorption. The lack of cobalamin caused a severe encephalopathy in the infant, whose brain displayed a striking loss of volume and a delay of myelination. Proton magnetic resonance spectroscopy revealed an accumulation of lactate in the gray and white matter of the brain and a sustained depletion of choline-containing compounds in the white matter, reflecting a reversible disturbance of oxidative energy metabolism in brain cells and a long-lasting hypomyelination disorder. The clinical picture in conjunction with MRI and spectroscopic data of this case study yields more insight into the functions of cobalamin in the cerebral metabolism.
 ...
PMID:Infantile cobalamin deficiency with cerebral lactate accumulation and sustained choline depletion. 1459 32


1 2 3 Next >>