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 58 year old Chinese male, one week after arriving in Canada from Hong Kong, presented with acute abdominal pain and diarrhoea which was rapidly followed by Escherichia coli infection causing septicaemia and meningitis. His past history revealed bronchial asthma for 15 years treated with steroids. At laparotomy, 7 days after the onset of symptoms, he was found to have extensive haemorrhagic infarction of the small bowel and right colon. Examination of the fibrosed mesenteric vessels revealed numerous filariform larvae of Strongyloides stercoralis, within the walls, and in all layers of bowel wall. The role of the parasite in the production of obliterative arteritis in this fatal case of haemorrhagic enteropathy is discussed. Clinical strongyloidiasis, in uncomplicated cases, varies from mild to severe with gastroenteritis, nausea, colicky abdominal pain, electrolyte imbalance and symptoms of malabsorption syndrome (MARCIAL-ROJAS, 1971). In malnourished individuals and patients with debilitating infections, either newly acquired or asymptomatic latent infection with S. stercoralis can assume severe dimensions (BROWN and PERNA, 1958; HUGHTON and HORN, 1959). Similarly, in patients on steroid (CRUZ et al., 1966; WILLIS and MWOKOLO, 1966; NEEFE et al., 1973) and immunosuppressive therapy for lymphomatous diseases or deficient in immune response (ROGERS and NELSON, 1966; RIVERA et al., 1970), systemic strongyloidiasis is often fatal. The increased frequency of auto-infection in such patients with a breached immune barrier is, however, unclear. Further complications of this infection due to severe enterocolitis result in sepsis, bacteraemia and meningitis (BROWN and PERNA, 1958; HUGHTON and HORN, 1959). This paper presents a fatal case of S. stercoralis infection which illustrates an uncommon if not unique, mechanism in its production of haemorrhagic enteropathy leading to sepsis and death.
 ...
PMID:Fatal bowel infarction and sepsis: an unusual complication of systemic strongyloidiasis. 122 84

A previously undescribed fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys occurred in sibs. They both presented during early childhood with cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. Later, they developed recurrent pneumonia (one was shown to have immotile bronchial cilia) and progressive azotemia leading to end-stage renal disease (ESRD) by late childhood. Both died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance is proposed since the normal parents were distant cousins, and 4 other sibs were normal.
 ...
PMID:New syndrome involving the visual, auditory, respiratory, gastrointestinal, and renal systems. 144 88

Vertigo in children is rarer than in adults and the examiner in cases showing these symptoms must rely on the parents' or relatives' observations and details. Besides the equilibrium disorders caused by hereditary malabsorption or lesions in the peripheral or central vestibular structures, e.g. ototoxic drugs, tumours in the brain, meningitis, encephalitis, otitis, labyrinthine fistulas or head trauma, we only known of typical diseases, associated with vertigo, that develop during childhood. These are: so-called benign paroxysmal vertigo of childhood, benign paroxysmal torticollis, basilar migraine, spasmus nutans, visual-cliff phenomenon, and kinetosis. Careful examinations are necessary to differentiate these illnesses from vestibular epilepsy, brain tumours, and hereditary episodic vertigo. Neuro-otologic examination in children, especially small children, is a kind of "stepchild" in ENT departments. The reasons are the time-consuming examination necessary in the case of children and by problems connected with a plethora of troublesome individual tests. Additional difficulties arise in cases of sensory, mental, and other impairments. - The paper gives an overview of vestibular disturbances during childhood and diagnostic procedures for determination by means of Frenzel glasses, electronystagmography, cranio-corpography, and posturography.
 ...
PMID:[Equilibrium disorders and their diagnosis in childhood]. 174 79

The authors investigated the hydrodynamics in normal pressure hydrocephalus (NPH) and suggested surgical indication for identifying cases suitable for shunt operation. 48 patients with presumed NPH who underwent CT scanning, CT cisternography, and continuous monitoring of intracranial pressure for 24 hours were studied for assessing the correlation of incidence of B wave with clinicopathological features of the normal pressure hydrocephalus syndromes. The causes of NPH consisted of idiopathic of primary origin in 24 patients, subarachnoid hemorrhage in 9, head injury in 8, cerebrovascular occlusion in 3, meningitis in 2, intracerebral hematoma in one and craniotomy in one. The incidence of B waves in term of percentage of time with B waves did not correlate with the age of the patients and presence or absence of CT evidence of brain atrophy. There was a good correlation between incidence of B waves and the degree of ventriculomegaly, the presence of periventricular lucency on CT, and the grade of CSF circulation disturbance as evaluated by CT cisternography. The pathogenesis of B waves may be related to increased malabsorption of CSF in the major pathways and episodic pressure response promoting CSF absorption in the lesser pathways. Those patients who exhibit the type IV or type V on CT cisternography and B waves for more than 20% of the time monitored on continuous monitoring of intracranial pressure (ICP) responded to shunting in more than 90%. Patients showing type III-b on CT cisternography and B waves for more than 5% on ICP monitoring benefited from a shunt in about 70%. On the other hand, patients with type III-a on CTC and B waves for less than 5% of the time monitored could not be expected to respond to shunting. Incidence of B waves on continuous ICP monitoring correlated closely with response to CSF shunting. Therefore continuous ICP monitoring, combined with CT cisternography, provide a reliable indication of the potential of a patient with NPH to recover after shunting.
 ...
PMID:[Continuous intracranial pressure monitoring in normal pressure hydrocephalus--with special reference to clinical significance of B wave and prognostic criteria for CSF shunting]. 684 9

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

Strongyloidiasis in an immunocompromised patient has the potential to be life threatening. We describe a boy who was on steroids for acute demyelinating myelitis and receiving antibiotics for E. coli UTI and meningitis. He developed anasarca, malabsorption, malnutrition and left ventricular failure. Duodenal biopsy revealed abundant rhabditiform larvae of Strongyloides stercoralis. The diagnosis went unsuspected and proved fatal. This emphasizes the need to have a high index of suspicion and early intervention for S. stercoralis in immunosuppressed persons who present with refractory gastrointestinal symptoms.
 ...
PMID:Disseminated strongyloidiasis in a immunocompromised host. 2225 57

Case report of a male patient with a five-decade follow-up history in a tertiary care hospital distinguished for malabsorption syndrome, failure-to-thrive, meningitis and recurrent bacterial, fungal and mycobacterial pulmonary infections. Additionally, he developed epidermodysplasia verruciformis, several in situ spinocellular carcinomas and an uncharacteristic parenchymal lung disease. Surgical lung biopsy suggested pulmonary alveolar proteinosis with fibrotic change. Retrospectively, severe monocytopenia had been overlooked in the past, as well as low B and NK cell blood counts. Flow cytometry confirmed the absence of the previous cell subsets along with an undetectable population of dendritic blood cells. Dendritic cell, monocyte, B and NK lymphoid Human Deficiency Syndrome (DCMLS) is a novel rare immunodeficiency described in 2010, linked to GATA-2 mutation. This syndrome should be highlighted as a rare cause of acquired PAP, with a radiological pattern encompassing potential fibrotic change. Failure to recognize monocytopenia may impede the chance to diagnose.
...
PMID:A novel immunodeficiency syndrome as a rare cause of secondary pulmonary alveolar proteinosis: a diagnosis after 5 decades. 2472 85