Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hyperparathyroid crisis is a rare disease but should be suspected in acutely ill patients complaining of weakness, lethargy, nausea, vomiting, confusion and abdominal pain. Despite the variety of clinical manifestations, the syndrome forms a distinctive pattern which, in the presence of a serum calcium level greater than 16 mg/100 ml, should be recognized. The most difficult problem in diagnosis is the differentiation of hyperparathyroid crisis from ectopic parathyroid hormone-producing tumors. The disease is an endocrine emergency which requires prompt surgery after rapid correction of dehydration and hypercalcemia. The best results are achieved by removing offending parathyroid tissue within 72 hours after the onset of symptoms.
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PMID:Primary hyperparathyroidism: hyperparathyroid crisis. 730 6

A 29 year old male was admitted at the emergency room suffering from gradually worsening headache followed by nausea. In the hospital patient presented with lethargy, reduction of consciousness level and bilateral hypoacusis. Ophthalmic examination and fluorescein angiography showed retinal vasculitis. This finding was crucial to the diagnosis of Susac syndrome, a rare disease characterized by vasculopathy of retina, encephalic tissues and cochlea. Patient was treated with immunosuppressors to prevent him from developing severe sequelae of this disease.
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PMID:Retinal vasculitis in Susac syndrome: case report. 1966 76

Infant botulism is a rare disease that affects infants below the age of 12 months following absorption of neurotoxins produced by ingested Clostridium botulinum spores. The clinical manifestations are caused by symmetrical cranial nerve palsies followed by descending, symmetric flaccid paralysis of voluntary muscles. Presenting symptoms include constipation, lethargy, mydriasis and ptosis. The diagnosis is made on the basis of clinical examination and confirmed by isolating the toxin in serum or stools. Treatment consists of supportive intensive care and treatment with antitoxins.
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PMID:[Infant botulism]. 2056 59

Juvenile cobalamin deficiency is a rare disease in border collies and its diagnosis requires a high level of clinical suspicion. The goal of this study was to increase awareness of this disease by describing the clinical and laboratory findings in four young border collies with inherited cobalamin deficiency. The median age of the dogs was 11.5 mo (range, 8-42 mo), and two of the four dogs were full siblings. Clinical signs included intermittent lethargy (n = 4), poor body condition (n = 4), odynophagia (n = 2), glossitis (n = 1), and bradyarrhythmia (n = 1). Pertinent laboratory abnormalities were mild to moderate normocytic nonregenerative anemia (n = 3), increased aspartate aminotransferase (AST) activity (n = 3), and mild proteinuria (n = 3). All of the dogs had serum cobalamin levels below the detection limit of the assay, marked methylmalonic aciduria, and hyperhomocysteinemia. Full clinical recovery was achieved in all dogs with regular parenteral cobalamin supplementation, and laboratory abnormalities resolved, except the proteinuria and elevated AST activity persisted. This case series demonstrates the diverse clinical picture of primary cobalamin deficiency in border collies. Young border collies presenting with ambiguous clinical signs should be screened for cobalamin deficiency.
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PMID:Clinical and laboratory findings in border collies with presumed hereditary juvenile cobalamin deficiency. 2353 54

Neonatal primary hyperparathyroidism (NPHP) is a rare disease that presents in the first 6 months of life. It is almost invariably fatal unless a prompt diagnosis is made and urgent surgical intervention is instituted. Patients with hyperparathyroidism require special preoperative considerations. They require proper work-up from cardiac, renal and neurological point of view, correction of intravenous volume and electrolytes irregularities. We are presenting a case of an infant who started to have cyanosis and lethargy at 21st day of life. Initial diagnosis of pneumonia was made but later on diagnosed as hyperparathyroidism. He was planned for parathyroidectomy under general anaesthesia. He was induced with sevoflurane followed by fentanyl and atracurium and intubated with size 3.5 mm endotracheal tube (ETT). Later, he was maintained with isoflurane and O2/NO2. He was successfully extubated at the end of operation and was shifted to intensive care unit (ICU) for close monitoring.
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PMID:Anaesthetic management of neonatal primary hyperparathyroidism. 2386 56

Human African trypanosomiasis (HAT), also referred to as "sleeping sickness", is caused by the parasite Trypanosoma brucei. Diagnosing imported HAT outside endemic areas is difficult and diagnosis is often delayed. We report a case of imported human African trypanosomiasis caused by Trypanosoma brucei gambiense with an unusually long incubation period of at least 7 years. A 33 year old male African patient, a former resident of Cameroon, presented with a 4-month history of progressive personality changes. A few weeks before presentation the patient had first been admitted to a psychiatric ward and received antidepressant treatment, until a lumbar puncture showed pleocytosis and then antibiotic treatment for suspected neuroborreliosis was initiated. The patient continued to deteriorate during antibiotic treatment and became increasingly lethargic. Under antiparasitic and anti-inflammatory treatment, the condition of the patient gradually improved over the following months and he recovered completely after 24 months of follow-up. This well-documented case illustrates typical difficulties in establishing the correct diagnosis outside endemic areas and provides an overview of typical clinical, neuropathological and neuroimaging findings in T. b. gambiense trypanosomiasis, guiding the clinician in establishing the correct diagnosis in this rare disease.
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PMID:Human African trypanosomiasis with 7-year incubation period: clinical, laboratory and neuroimaging findings. 2461 72

Tetanus is a rare disease in industrialized countries, largely due to the highly protective effect of immunization. We present a case of tetanus in a formerly preterm infant with myelomeningocele repaired in utero, who presented at 44 days of age with poor feeding, lethargy, and increased tone. His symptoms progressed despite a course of antibiotics for presumed meningitis. At 73 days of age (on 29th day of hospitalization), a clinical diagnosis of tetanus was made based on the presence of risus sardonicus, trismus, and generalized hypertonicity. Consequently, tetanus immune globulin, muscle relaxants, and metronidazole were administered. Five months later, the infant has had complete resolution of the hypertonicity, has regained normal jaw movement and swallowing, and is regaining oral feeding skills. This case involved a delay in diagnosis despite clinical symptoms and signs classic, in retrospect, for tetanus, highlighting the importance of recognizing the constellation of symptoms that should lead us to consider this rare diagnosis.
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PMID:Tetanus and Occam's Razor: Almost Forgotten but Not Gone: A Case Report. 2794 Jul 61

A 73-year-old man with a history of lethargy, fever and dyspnea was admitted to Tottori University Hospital. A computed tomography (CT) scan revealed splenomegaly and diffusely spreading ground-glass opacities (GGOs) in both lungs. A video-assisted thoracoscopic surgery (VATS)-guided lung biopsy revealed intravascular proliferation of large atypical lymphoid cells in the arteries, veins and alveolar walls. The patient was diagnosed with intravascular large B-cell lymphoma (IVLBCL); he received 6 cycles of rituximab, cyclophosphamide, doxorubicin, vincristine and prednisolone (R-CHOP) immunochemotherapy and has remained in complete remission for >1 year. Although IVLBCL is a rare disease, it should be considered in the differential diagnosis of pulmonary diffuse lesions that present with GGOs on CT scans.
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PMID:Pulmonary intravascular large B-cell lymphoma successfully treated with rituximab, cyclophosphamide, vincristine, doxorubicin and prednisolone immunochemotherapy: Report of a patient surviving for over 1 year. 2810 47

Non-ketotic hyperglycinemia (NKH) is a rare inborn error of metabolism and is caused by a glycine cleavage system deficiency. Eighty-five percent of patients present with the neonatal type of NKH, the infants initially develop lethargy, seizures, and episodes of apnea, and most often death. Between 60-90% of cases are caused by mutations in the glycine decarboxylase (GLDC). We believed that more mutation reports especially for rare disease as NKH help to evaluate the genotype-phenotype relationship in patients with GLDC. In this study, we describe a case of a neonate admitted to intensive care unit with hypotonia, respiratory failure, lethargy, poor feeding. Due to the history of 2 non-ketotic hyperglycinemia diagnosed male siblings, molecular prenatal diagnosis in patient was performed and a novel c.2963G>A (Arg998Gln) homozygous mutation within the GLDC gene has been detected. We aimed to contribute to mutation knowledge pool of GLDC gene with a novel mutation.
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PMID:A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia. 2841 85

Gallstone ileus is a rare disease that accounts for 1-4% of intestinal obstructions. Almost exclusively a condition in the older female population, it is a difficult diagnosis to make. We report the case of gallstone ileus in a 94-year-old Caucasian female, who presented to the emergency department with acute-onset nausea, coffee-ground emesis, lack of bowel movement, and abdominal distension. On CT scan, the diagnosis of gallstone ileus was made by the presence of a cholecystoduodenal fistula, pneumobilia, and small bowel obstruction. Emergent laparotomy with a one-stage procedure of enterolithotomy and stone removal by milking the bowel distal to the stone were performed. The postoperative course was uneventful until postoperative day 4 when the patient was found tachycardic, lethargic, and unresponsive. We reviewed the literature on the diagnosis and treatment of gallstone ileus.
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PMID:Gallstone Ileus: An Unlikely Cause of Mechanical Small Bowel Obstruction. 2903 57


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