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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We refer in the present article, the first case found in our laboratory of Monoclonal gammapathy of the IgD type. A 47-year-old man presented at the emergency department with a history of malaise, lethargy, tiredness, thirstiness and obscure depositions. Clinical examination revealed a normocytic anaemia. The plasma urea was 423 mg/dl and the plasma creatinine was 15, 3 mg/dl. He was admitted to hospital with a diagnosis of acute renal failure. The later electrophoresis in serum revealed a little monoclonal band that was identified as IgD-lambda type by immunofixation electrophoresis. In urine electrophoresis was observed a beta-band. Bone marrow biopsy revealed a 20% of plasmocytic cells. Renal biopsy was compatible with myelomatose lesions. Osteolytic lesions were observed.
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PMID:[A case of monoclonal gammapathy type IgD]. 901 14

The authors report the case of a patient who developed hyperammonemia and coma during therapy with valproic acid for affective disorder. Onset of the coma was gradual and initially interpreted as a therapeutic reduction in the patient's anxiety. In a psychiatric setting, treatment of hyperammonemia may be delayed if a patient's increasing lethargy is interpreted as a therapeutic response. Staff may need to be educated about the potential for hyperammonemia, and patients whose tolerance for valproic acid is unknown may need to be monitored for liver function and blood levels of urea and ammonia.
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PMID:Hyperammonemia and coma developed by a woman treated with valproic acid for affective disorder. 977 13

Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. A practical clinical approach to the recognition of inborn errors of metabolism in the young infant is presented in this review. Indications for specific laboratory studies are discussed. Guidelines are provided for the stabilization and emergency treatment of critically ill infants. This approach will identify those infants who will benefit from additional evaluation and specific treatment. Many of the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disorders of amino acid metabolism, present in the young infant with symptoms of an acute or chronic metabolic encephalopathy. Typical symptoms include lethargy, poor feeding, apnea or tachypnea, and recurrent vomiting. Metabolic acidosis and/or hyperammonemia are observed in many of these conditions, but there are notable exceptions, including nonketotic hyperglycinemia and molybdenum co-factor deficiency. Therefore, appropriate laboratory testing for metabolic disorders should be performed in any infant who exhibits these findings. Although sepsis may be the initial consideration in a neonate with these symptoms, inborn errors of metabolism should always be in the differential diagnosis, particularly in a full-term infant with no specific risk factors. Hypoglycemia may be the predominant finding in a number of inborn errors of metabolism, including glycogen storage disorders, defects in gluconeogenesis, and fatty acid oxidation defects. The latter disorders, among the most common encountered, exhibit marked clinical variability and also may present as a sudden death, a Reye's-like episode, or a cardiomyopathy. Jaundice or other evidence of hepatic dysfunction is the mode of presentation of another important group of inborn errors of metabolism including galactosemia, hereditary tyrosinemia, neonatal hemochromatosis, and a number of other conditions. A subset of lysosomal storage disorders may present very early with coarse facial features, organomegaly, or even hydrops fetalis. Specific patterns of dysmorphic features and congenital anomalies characterize yet another group of inherited metabolic disorders, such as Zellweger syndrome and the Smith-Lemli-Opitz syndrome. Each of these symptom complexes, and the appropriate evaluation of the affected infants, is discussed in more detail in this review.
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PMID:Inborn errors of metabolism in infancy: a guide to diagnosis. 983 97

Gastroenteritis in children is a common reason for visits to family physicians. Most cases of gastroenteritis have a viral etiology and are self-limited. However, more severe or prolonged cases of gastroenteritis can result in dehydration with significant morbidity and mortality. This is often the scenario in third-world countries, where gastroenteritis results in 3 million deaths annually. A proper clinical evaluation will allow the physician to estimate the percentage of dehydration and determine appropriate therapy. In some situations, laboratory studies such as determination of blood urea nitrogen and serum electrolytes may be helpful. Stool studies are indicated if a child is having bloody diarrhea or if an unusual etiology is suspected, such as Escherichia coli O157:H7 or Cryptosporidium. Most children with gastroenteritis can be treated with physiologically balanced oral rehydration solutions. In children who are hypovolemic, lethargic and estimated to be more than 5 percent dehydrated, initial treatment with intravenous boluses of isotonic saline or Ringer's lactate may be required. Children with severe diarrhea need nutrition to restore digestive function and, generally, food should not be withheld.
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PMID:Gastroenteritis in children: principles of diagnosis and treatment. 1020 99

The purpose of this study was to identify initial clinical characteristics that can lead to early diagnosis of renal abscess in the emergency department and predict poor prognosis. A retrospective review of 88 renal abscess patients, from April 1979 through January 1996, was conducted. Patients were categorized into two groups. In group 1, renal abscess was diagnosed by an emergency physician, whereas in group 2 renal abscess was not diagnosed by an emergency physician. Clinical characteristics included demographic data, predisposing medical problems, duration of illness before diagnosis, time spent in hospital diagnosis, initial signs and symptoms, laboratory tests, and radiology studies that may have been useful in the early diagnostic regimes. Clinical factors were also analyzed for their value in predicting poor prognosis. The mean age of 88 patients with renal abscess was 59.8 years. The most common predisposing disorder was diabetes mellitus, followed by renal calculi and ureteral obstruction. The duration of diagnosis by emergency physicians was shorter for group 1 patients (1.2 +/- .4 v group 2, 2.8 +/- 2.9 days; P < .01) and the blood urea nitrogen level was higher in group 1 (55.7 +/- 42.2 mg/dL, v group 2, 33.5 +/- 33.5 mg/dL; P = .02). In the early diagnosis of renal abscess, emergency physicians should focus on patients who have predisposing disorders, ie, diabetes mellitus, renal stones, immunosuppression, longer duration of symptoms of urinary tract infection, and renal failure, who should promptly be investigated with ultrasound in the emergency department. The cure rate after treatment with routine antibiotics plus percutaneous drainage was 64%. This therapy is recommended for initial treatment. Poor prognosis is associated with elderly patients with lethargy and with elevation of the serum blood urea nitrogen level.
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PMID:Renal abscess: early diagnosis and treatment. 1010 26

This paper describes the clinical and laboratory findings from 264 cases of toxic mastitis in cows in Northern Ireland between October 1995 and May 1997. Nearly all the cases occurred during the winter housing period, with 84 per cent occurring between November and March inclusive, and 30 per cent in March. Sixty per cent of the cases occurred within one month of calving, and 29 per cent within four days of calving. The most common clinical signs were lethargy (92 per cent), discoloured milk (90 per cent), anorexia (72 per cent), tachypnoea (23 per cent), diarrhoea (23 per cent), recumbency (18 per cent) and staggering (15 per cent). Severe pyrexia (18 per cent) and clinical dehydration (44 per cent) were relatively common findings. Pure growths of Escherichia coli were isolated from 50 per cent of the milk samples, but 11 per cent yielded no bacterial growth. In vitro sensitivity tests indicated that enrofloxacin was effective against 98 per cent of the bacteria isolated, and framycetin and amoxycillin/clavulanic acid against 91 per cent. Abnormally high blood urea levels were observed in 31 per cent of cases, high blood creatinine levels in 42 per cent, and severe leucopenia in 56 per cent. Of the cases which were followed up, 14 per cent died, 21 per cent were culled early and a further 22 per cent lost milk production from the affected quarter.
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PMID:Clinical and laboratory findings in cases of toxic mastitis in cows in Northern Ireland. 1095 33

Intracranial aneurysms (ICA) are a well-known feature of autosomal dominant polycystic kidney disease. There is only one report about ICA in an adult patient with autosomal recessive polycystic kidney disease (ARPKD). We observed a 2-year, 6-month old girl with ARPKD and multiple ICA. The family history is negative for kidney disease. The diagnosis of ARPKD was based on the typical findings in ultrasonography and computed tomography. Cystic ectasia of biliary ducts 6.3/4.8 cm in diameter was found in the liver. Arterial hypertension in a range of 140/100-170/120 mm Hg was registered. The child has polyuria, polydipsia and enuresis. Blood urea was 15 mmol/l, creatinine in a range of 120 to 75 micromol/l. One episode of vomiting, dizziness and lethargy was the reason for a brain magnetic resonance imaging. Multiple fusiform and saccular aneurysms in the branches of middle and posterior cerebral arteries were seen bilaterally. The girl is growing well without neurological symptoms during an observation period of 1.5 years. Blood pressure is well controlled with an ACE inhibitor (Enalapril 2.5 mg daily). It was concluded that ICA can be found in patients with ARPKD. Blood pressure control is essential to reduce the risk of intracranial hemorrhage.
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PMID:Intracranial aneurysms in a child with autosomal recessive polycystic kidney disease. 1179 94

Urea Cycle Disorders (UCD) is an inborn error of urea synthesis in which ammonium and other nitrogenous precursors of urea accumulate leading to episodic coma and a high mortality rate. Therapy with peritoneal dialysis, essential amino acids or their nitrogen-free analogues has increased survival. The authors report 5 cases of urea cycle disorders, all of whom developed and were rescued from hyperammonemic coma. However, the eventual outcome was quite variable. Argininosuccinate lyase deficiency (ALD) Case 1. A 2 month old male infant, a product of a consanguineous marriage (Suphanburi province); developed poor feeding on day 7, lethargy, convulsion, hepatomegaly and respiratory alkalosis leading to respiratory failure and coma. Hyperammonemia, elevation of glutamic acid and argininosuccinic acid and its anhydrides confirmed the diagnosis of ALD. He is now 9 years old and severely retarded. Case 2. A male infant with history of lethargy, poor feeding on day 3, treated as sepsis and required respiratory support for 6 days; subsequently readmitted at age 2 weeks with vomitting, lethargy, seizure activity and hyperammonemia, and was treated by a local pediatrician in Songkhla province. There was a history of parental consanguinity and he was referred to Siriraj Hospital on day 64 with severe essential amino acid deficiency and acrodermatitis enteropathica with markedly elevated plasma citrulline level. In spite of aggressive treatment; the patient developed sepsis and he expired on day 78. Ornithine transcarbamylase deficiency (OTC) Case 3. An eleven-month-old male infant, the product of a non-consanguineous marriage, developed neonatal onset of hyperammonemia on day 5 after poor feeding, lethargy, hypothermia, seizure, apnea and coma. He was rescued from neonatal hyperammonemic coma on day 9 after aggressive treatment, but expired at eleven months of age after overwhelming sepsis. Case 4. A male infant, sibling of case 3 was referred to Siriraj Hospital on day 8 with hyperammonemia and coma. In spite of intensive genetic counseling given after the birth of their first child with OTC, the couple chose to have another baby without informing any physician. The baby developed vomiting and lethargy on day 2; subsequently hyperammonemia was noted. In spite of aggressive treatment given; hepatic dysfunction, renal failure and disseminated intravascular coagulation defects occurred on day 15. He expired on day 18 after parental permission for discontinuation of all treatment. Argininosuccinate synthetase deficiency (ASS) or Citrullinemia. Case 5. A seven week old female infant, the product of a consanguineous marriage and of Pakistani ethnic origin; developed intermittent vomiting from day 6. Initial diagnoses included ruminations, sepsis and pyloric stenosis for which she was operated on (day 30); however, vomiting continued; subsequently seizures, hyperammonemic coma developed and she was rescued from hyperammonemic coma within 30 hours. Significant elevations of citrulline and L-glutamine were demonstrated. She was discharged in excellent condition to her home in Dubai, the United Arab Emirates.
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PMID:Urea cycle disorders in Thai infants: a report of 5 cases. 1240 52

Ornithine transcarbamylase deficiency (OTCD) is an X-linked inherited disease and the most common inborn error in urea synthesis in human patients. In adult heterozygous patients, OTCD can be responsible for life-threatening hyperammonemic coma. We report the case of a 32-year-old woman admitted to our hospital with seizures after a recent high protein load. Her parents related a history of recurrent episodes of vomiting, meat refusal, lethargy, and convulsions since childhood, and measurement of plasma ammonemia levels was the key to early diagnosis of OTCD. We report the pathophysiologic characteristics, clinical features, clinical course, and differential diagnosis of OTCD and discuss the therapeutic options, including continuous venovenous hemodiafiltration and pharmacologic therapy for reduction of plasma ammonemia levels. A diagnosis of OTCD should be considered in adult nonhepatic patients with hyperammonemic coma, particularly if they have a history of protein avoidance and neurologic symptoms. Early recognition and appropriate treatment are critical to avoid severe brain damage and death.
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PMID:Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma. 1251 90

OBJECTIVE: To drive pediatrician's attention to a urea cycle enzyme deficiency. The prognosis is directly related to the early diagnosis and treatment. METHODS: We describe a newborn patient who present lethargy, vomitus and seizures 48 hours afther birth. We investigated this patient and the diagnosis of ornithine transcarbamylase deficiency was made. Treatment was started immediately. RESULTS: We followed the patient until he was 1 year old, when he had liver transplant with a good outcome of the disease. CONCLUSION: The ornithine transcarbamylase deficiency is a rare and very serious disease. Any newborn whose evolution is similar to that of a septic patient without any infection must be investigated for this disease. The prognosis is directly related to the early diagnosis and treatment.
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PMID:[Ornithine transcarbamylase deficiency: neonatal diagnostic] 1468 53


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